da323191c57c36932ad1751af87b59b71b836501 markd Fri Jul 25 23:20:00 2025 -0700 fixed issues created by the pain of parsing gene2accession #36073 diff --git src/hg/makeDb/outside/hgnc/tests/expected/hg38Test.bed src/hg/makeDb/outside/hgnc/tests/expected/hg38Test.bed new file mode 100644 index 00000000000..2eeda5e8a60 --- /dev/null +++ src/hg/makeDb/outside/hgnc/tests/expected/hg38Test.bed @@ -0,0 +1,120 @@ +chr1 12644084 12667076 HGNC:32038 0 + 12644084 12667076 13,20,118 AADACL4 arylacetamide deacetylase like 4 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001889 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2023-01-20 343066 ENSG00000204518 OTTHUMG00000001889 uc001auf.3 NM_001013630 CCDS30590 Q5VUY2 MGI:2685282|MGI:2685284|MGI:2685880|MGI:3650257|MGI:3650721|MGI:3652194 RGD:1565761 HGNC:32038 ENST00000376221.2|NM_001013630.2 +chr1 12716109 12728760 HGNC:32037 0 + 12716109 12728760 13,20,118 AADACL3 arylacetamide deacetylase like 3 protein-coding gene gene with protein product Approved 1p36.21 01p36.21 OTTHUMG00000001887 Arylacetamide deacetylase family 465 2006-06-30 2016-05-26 2023-03-15 126767 ENSG00000188984 OTTHUMG00000001887 uc057ckc.1 NM_001103170 CCDS41253 Q5VUY0 MGI:2685281 RGD:1563257 HGNC:32037 ENST00000359318.8|NM_001103170.3 +chr1 33306765 33321098 HGNC:30005 0 - 33306765 33321098 13,20,118 A3GALT2 alpha 1,3-galactosyltransferase 2 protein-coding gene gene with protein product Approved 1p35.1 01p35.1 IGBS3S|IGB3S iGb3 synthase|isoglobotriaosylceramide synthase A3GALT2P alpha 1,3-galactosyltransferase 2, pseudogene Glycosyltransferase family 6 429 2005-05-06 2013-03-11 2013-03-11 2023-01-20 127550 ENSG00000184389 OTTHUMG00000004125 uc031plq.1 NM_001080438 CCDS60080 U3KPV4 10854427|18630988 MGI:2685279 RGD:727913 619850 HGNC:30005 ENST00000442999.3|NM_001080438.1 +chr1 93992833 94121148 HGNC:34 0 - 93992833 94121148 13,20,118 ABCA4 ATP binding cassette subfamily A member 4 protein-coding gene gene with protein product Approved 1p22.1 01p22.1 FFM|ARMD2|CORD3 Stargardt disease STGD1|ABCR|RP19|STGD ATP-binding cassette transporter, retinal-specific|ATP-binding cassette, sub-family A (ABC1), member 4 ATP binding cassette subfamily A 805 1994-07-14 2015-11-13 2024-09-16 24 ENSG00000198691 OTTHUMG00000010622 uc001dqh.4 U88667 NM_000350 CCDS747 P78363 9490294 MGI:109424 RGD:1309445 Mutations of the ATP-binding Cassette Transporter Retina|http://www.retina-international.org/files/sci-news/abcrmut.htm 601691 117623 objectId:759 7.6.2.1 HGNC:34 ENST00000370225.4|NM_000350.3 HGNC:34 +chr1 94418388 94518666 HGNC:67 0 + 94418388 94518666 13,20,118 ABCD3 ATP binding cassette subfamily D member 3 protein-coding gene gene with protein product Approved 1p21.3 01p21.3 PMP70|ZWS2 peroxisomal membrane protein 70 kDa PXMP1 ATP-binding cassette, sub-family D (ALD), member 3|peroxisomal membrane protein 1 (70kD, Zellweger syndrome) ATP binding cassette subfamily D|GOLD domain containing 808|1062 1992-03-03 2015-11-13 2023-01-20 5825 ENSG00000117528 OTTHUMG00000010717 uc001dqn.5 M81182 NM_002858 P28288 1301993|8449508 MGI:1349216 RGD:2007 170995 469898 objectId:790 HGNC:67 ENST00000370214.9|NM_002858.4 HGNC:67 +chr1 229516581 229558707 HGNC:41 0 - 229516581 229558707 13,20,118 ABCB10 ATP binding cassette subfamily B member 10 protein-coding gene gene with protein product Approved 1q42.13 01q42.13 EST20237|M-ABC2|MTABC2 ATP-binding cassette sub-family B member 10, mitochondrial|ATP-binding cassette transporter 10|ABC transporter 10 protein|mitochondrial ATP-binding cassette 2 ATP-binding cassette, sub-family B (MDR/TAP), member 10 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 23456 ENSG00000135776 OTTHUMG00000039471 uc001htp.4 U18237 NM_012089 CCDS1580 Q9NRK6 7766993 MGI:1860508 RGD:1311222 605454 objectId:777 HGNC:41 ENST00000344517.5|NM_012089.3 +chr10 38601417 38605609 HGNC:63 0 + 38601417 38605609 253,66,253 ABCD1P2 ATP binding cassette subfamily D member 1 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 bA453N3.6 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 1999-12-17 2015-11-13 2015-11-13 26983 ENSG00000215151 OTTHUMG00000018003 U90288 NG_001270 9215666 PGOHUM00000238740 HGNC:63 +chr10 50799408 50885675 HGNC:24086 0 - 50799408 50885675 13,20,118 A1CF APOBEC1 complementation factor protein-coding gene gene with protein product Approved 10q11.23 10q11.23 ACF|ASP|ACF64|ACF65|APOBEC1CF RNA binding motif containing 725 2007-11-23 2023-01-20 29974 ENSG00000148584 OTTHUMG00000018240 uc057tgv.1 AF271790 NM_014576 Q9NQ94 11815617|11072063 MGI:1917115 RGD:619834 618199 HGNC:24086 ENST00000373997.8|NM_014576.4 +chr10 99782639 99852594 HGNC:53 0 + 99782639 99852594 13,20,118 ABCC2 ATP binding cassette subfamily C member 2 protein-coding gene gene with protein product Approved 10q24.2 10q24.2 DJS|MRP2|cMRP CMOAT canalicular multispecific organic anion transporter 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ATP binding cassette subfamily C 807 1997-05-09 2015-11-13 2024-09-16 1244 ENSG00000023839 OTTHUMG00000018895 uc001kqf.3 U63970 NM_000392 CCDS7484 Q92887 8797578|9284939 MGI:1352447 RGD:2366 LRG_1208|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1208.xml 601107 117652 objectId:780 7.6.2.2|7.6.2.3 HGNC:53 ENST00000647814.1|NM_000392.5 HGNC:53 +chr10_ML143354v1_fix 274484 278676 HGNC:63 0 + 274484 278676 253,66,253 ABCD1P2 ATP binding cassette subfamily D member 1 pseudogene 2 pseudogene pseudogene Approved 10p11.1 10p11.1 bA453N3.6 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 2 1999-12-17 2015-11-13 2015-11-13 26983 ENSG00000215151 OTTHUMG00000018003 U90288 NG_001270 9215666 PGOHUM00000238740 HGNC:63 +chr11 17392497 17476894 HGNC:59 0 - 17392497 17476894 13,20,118 ABCC8 ATP binding cassette subfamily C member 8 protein-coding gene gene with protein product Approved 11p15.1 11p15.1 HI|PHHI|SUR1|MRP8|ABC36|HHF1|TNDM2 sulfonylurea receptor (hyperinsulinemia) SUR|HRINS ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ATP binding cassette subfamily C 807 1995-01-10 2015-11-13 2023-01-20 6833 ENSG00000006071 OTTHUMG00000166316 uc001mnc.4 L78207 NM_000352 Q09428 7920639|7716548 MGI:1352629 RGD:3786 LRG_790|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_790.xml 600509 117665 objectId:2594 HGNC:59 ENST00000389817.8|NM_000352.6 HGNC:59 +chr11 77821108 77918432 HGNC:30205 0 + 77821108 77918432 13,20,118 AAMDC adipogenesis associated Mth938 domain containing protein-coding gene gene with protein product Approved 11q14.1 11q14.1 PTD015|FLJ21035|CK067 C11orf67 chromosome 11 open reading frame 67 2006-03-27 2012-10-08 2016-06-21 2023-01-20 28971 ENSG00000087884 OTTHUMG00000166651 uc058fuq.1 BC016854 NM_024684 Q9H7C9 22279136 MGI:1913523 RGD:1561459 620474 HGNC:30205 ENST00000393427.7|NM_024684.4 +chr11 106075500 106098699 HGNC:14235 0 + 106075500 106098699 13,20,118 AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase protein-coding gene gene with protein product Approved 11q22.3 11q22.3 LYS5|CGI-80|AASD-PPT|ACPS holo ACP synthase|holo-[acyl-carrier-protein] synthase 2000-12-21 2023-01-20 60496 ENSG00000149313 OTTHUMG00000166253 uc001pjc.2 AF302110 NM_015423 CCDS31664 Q9NRN7 12815048|11286508|18022563 MGI:1914868 RGD:1311360 607756 2.7.8.7 HGNC:14235 ENST00000278618.9|NM_015423.3 +chr12 8776218 8830947 HGNC:41022 0 - 8776218 8830947 9,99,11 A2ML1-AS1 A2ML1 antisense RNA 1 non-coding RNA long non-coding RNA Approved 12p13.31 12p13.31 A2ML1 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 100874108 ENSG00000256661 OTTHUMG00000168273 uc058kxy.1 NR_046715 URS00005F9A07 A2ML1-AS1 +chr12 8819815 8820713 HGNC:41523 0 - 8819815 8820713 9,99,11 A2ML1-AS2 A2ML1 antisense RNA 2 non-coding RNA long non-coding RNA Approved 12p13.31 12p13.31 A2ML1 antisense RNA 2 (non-protein coding) Antisense RNAs 1987 2011-05-05 2012-08-15 2014-11-19 106478979 ENSG00000256904 OTTHUMG00000168274 uc058kyb.1 URS00001BFF15 A2ML1-AS2 +chr12 8822620 8887001 HGNC:23336 0 + 8822620 8887001 13,20,118 A2ML1 alpha-2-macroglobulin like 1 protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FLJ25179|p170 CPAMD9 C3 and PZP-like, alpha-2-macroglobulin domain containing 9 Alpha-2-macroglobulin family 2148 2005-07-20 2005-09-01 2016-03-07 2023-01-20 144568 ENSG00000166535 OTTHUMG00000128499 uc001quz.6 AK057908 NM_144670 CCDS8596|CCDS73439 A8K2U0 16298998 610627 410627 I39.007 HGNC:23336 ENST00000299698.12|NM_144670.6 HGNC:23336 +chr12 9065162 9068689 HGNC:27057 0 + 9065162 9068689 9,99,11 A2M-AS1 A2M antisense RNA 1 non-coding RNA long non-coding RNA Approved 12p13.31 12p13.31 A2M antisense RNA 1 (non-protein coding)|A2M antisense RNA 1 Antisense RNAs 1987 2012-06-23 2018-03-21 2018-03-21 144571 ENSG00000245105 OTTHUMG00000168289 uc009zgj.2 NR_026971 URS00001F234A A2M-AS1 HGNC:27057 +chr12 9067663 9116229 HGNC:7 0 - 9067663 9116229 13,20,118 A2M alpha-2-macroglobulin protein-coding gene gene with protein product Approved 12p13.31 12p13.31 FWP007|S863-7|CPAMD5 Alpha-2-macroglobulin family 2148 1986-01-01 2023-01-20 2 ENSG00000175899 OTTHUMG00000150267 uc001qvk.2 BX647329|X68728|M11313 NM_000014 CCDS44827 P01023 2408344|9697696 MGI:2449119 RGD:2004 LRG_591|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_591.xml 103950 I39.001 HGNC:7 ENST00000318602.12|NM_000014.6 HGNC:7 +chr12 9229375 9275817 HGNC:8 0 - 9229375 9275817 253,66,253 A2MP1 alpha-2-macroglobulin pseudogene 1 pseudogene pseudogene Approved 12p13.31 12p13.31 A2MP alpha-2-macroglobulin pseudogene 1991-09-12 2010-02-24 2010-02-24 2016-08-22 3 ENSG00000256069 OTTHUMG00000168334 M24415 NG_001067 2478422 PGOHUM00000291221 HGNC:8 +chr12 21797388 21942543 HGNC:60 0 - 21797388 21942543 13,20,118 ABCC9 ATP binding cassette subfamily C member 9 protein-coding gene gene with protein product Approved 12p12.1 12p12.1 SUR2|CMD1O sulfonylurea receptor 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-03-15 10060 ENSG00000069431 OTTHUMG00000169094 uc001rfi.2 AF061323 NM_005691 CCDS8693|CCDS8694 O60706 9457174|15034580 MGI:1352630 RGD:3787 LRG_377|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_377.xml 601439 117673 objectId:2746 HGNC:60 ENST00000261200.9|NM_020297.4 HGNC:60 +chr12 39550032 39619803 HGNC:66 0 - 39550032 39619803 13,20,118 ABCD2 ATP binding cassette subfamily D member 2 protein-coding gene gene with protein product Approved 12q12 12q12 ALDR|ALDRP ALDL1 ATP-binding cassette, sub-family D (ALD), member 2 ATP binding cassette subfamily D 808 1997-10-10 2015-11-13 2023-01-20 225 ENSG00000173208 OTTHUMG00000169337 uc001rmb.3 U28150 NM_005164 CCDS8734 Q9UBJ2 8577752 MGI:1349467 RGD:69244 601081 469896 objectId:789 HGNC:66 ENST00000308666.4|NM_005164.4 +chr12 53307455 53324864 HGNC:13666 0 - 53307455 53324864 13,20,118 AAAS aladin WD repeat nucleoporin protein-coding gene gene with protein product Approved 12q13.13 12q13.13 aladin|Allgrove, triple-A|adracalin achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)|achalasia, adrenocortical insufficiency, alacrimia WD repeat domain containing|Nucleoporins 362|1051 2000-11-08 2015-12-14 2024-06-07 8086 ENSG00000094914 OTTHUMG00000169729 uc001scr.5 AJ289841 NM_001173466 Q9NRG9 11062474|12196509 MGI:2443767 RGD:1308701 605378 117613 HGNC:13666 ENST00000209873.9|NM_015665.6 HGNC:13666 +chr12 122920950 122981649 HGNC:50 0 - 122920950 122981649 13,20,118 ABCB9 ATP binding cassette subfamily B member 9 protein-coding gene gene with protein product Approved 12q24.31 12q24.31 EST122234 ATP-binding cassette, sub-family B (MDR/TAP), member 9 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-03-15 23457 ENSG00000150967 OTTHUMG00000168769 uc058upb.1 U66676 NM_019624 Q9NP78 8894702 MGI:1861729 RGD:620254 605453 objectId:776 HGNC:50 ENST00000280560.13|NM_019625.4 +chr12 125065433 125143333 HGNC:21298 0 + 125065433 125143333 13,20,118 AACS acetoacetyl-CoA synthetase protein-coding gene gene with protein product Approved 12q24.31 12q24.31 FLJ12389|SUR-5|ACSF1 acyl-CoA synthetase family member 1 Acyl-CoA synthetase family 40 2003-06-02 2023-01-20 65985 ENSG00000081760 OTTHUMG00000168550 uc001uhc.4 AK022451 NM_023928 CCDS9263 Q86V21 12623130|17762044 MGI:1926144 RGD:708522 614364 6.2.1.16 HGNC:21298 ENST00000316519.11|NM_023928.5 +chr12_MU273372v1_fix 31205 48614 HGNC:13666 0 - 31205 48614 13,20,118 AAAS aladin WD repeat nucleoporin protein-coding gene gene with protein product Approved 12q13.13 12q13.13 aladin|Allgrove, triple-A|adracalin achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)|achalasia, adrenocortical insufficiency, alacrimia WD repeat domain containing|Nucleoporins 362|1051 2000-11-08 2015-12-14 2024-06-07 8086 ENSG00000094914 OTTHUMG00000169729 uc001scr.5 AJ289841 NM_001173466 Q9NRG9 11062474|12196509 MGI:2443767 RGD:1308701 605378 117613 HGNC:13666 ENST00000209873.9|NM_015665.6 HGNC:13666 +chr13 95019834 95301475 HGNC:55 0 - 95019834 95301475 13,20,118 ABCC4 ATP binding cassette subfamily C member 4 (PEL blood group) protein-coding gene gene with protein product Approved 13q32.1 13q32.1 MRP4|EST170205|MOAT-B|MOATB canalicular multispecific organic anion transporter (ABC superfamily)|bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)|multidrug resistance-associated protein 4|multispecific organic anion transporter B ATP-binding cassette, sub-family C (CFTR/MRP), member 4|ATP binding cassette subfamily C member 4 Blood group antigens|ATP binding cassette subfamily C 454|807 1999-10-26 2023-11-02 2023-11-02 10257 ENSG00000125257 OTTHUMG00000017216 uc001vmd.5 U66682 NM_005845 O15439 8894702|9661885 MGI:2443111 RGD:620266 LRG_1183|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1183.xml 605250 469894 objectId:782 HGNC:55 ENST00000645237.2|NM_005845.5 HGNC:55 +chr14 18998859 19000587 HGNC:31819 0 + 18998859 19000587 253,66,253 ACTBP10 ACTB pseudogene 10 pseudogene pseudogene Approved 14q11.2 14q11.2 actin, beta pseudogene 10 2004-09-07 2019-01-10 2019-01-10 446207 NG_032756 HGNC:31819 +chr14 74285268 74303055 HGNC:68 0 - 74285268 74303055 13,20,118 ABCD4 ATP binding cassette subfamily D member 4 protein-coding gene gene with protein product Approved 14q24.3 14q24.3 PMP69|P70R|EST352188 Lysosomal cobalamin transporter ABCD4 PXMP1L ATP-binding cassette, sub-family D (ALD), member 4 ATP binding cassette subfamily D 808 1997-10-27 2015-11-13 2024-09-16 5826 ENSG00000119688 OTTHUMG00000171207 uc001xpr.3 AF009746 NM_005050 CCDS9828 O14678 9266848|9302272|33845046 MGI:1349217 RGD:1307273 603214 315413 7.6.2.8 HGNC:68 ENST00000356924.9|NM_005050.4 HGNC:68 +chr15 23179868 23182049 HGNC:14114 0 + 23179868 23182049 253,66,253 ABCB10P1 ABCB10 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 M-ABC2|MABC2 ABCB10P|ABCB10P2 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1|ATP binding cassette subfamily B member 10 pseudogene 1 2001-07-13 2008-09-09 2018-05-23 2018-05-23 56476 ENSG00000274099 OTTHUMG00000188344 AF218417 NG_005041 7766993|10922475 PGOHUM00000293137 HGNC:14114 +chr15 28402867 28405033 HGNC:31129 0 + 28402867 28405033 253,66,253 ABCB10P3 ABCB10 pseudogene 3 pseudogene pseudogene Approved 15q13.1 15q13.1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3|ATP binding cassette subfamily B member 10 pseudogene 3 2010-06-17 2018-05-23 2018-05-23 728248 ENSG00000261524 OTTHUMG00000175874 NG_022122 PGOHUM00000293151 HGNC:31129 +chr15 28506624 28508808 HGNC:31130 0 - 28506624 28508808 253,66,253 ABCB10P4 ABCB10 pseudogene 4 pseudogene pseudogene Approved 15q13.1 15q13.1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4|ATP binding cassette subfamily B member 10 pseudogene 4 2010-06-17 2018-05-23 2018-05-23 100132289 ENSG00000260053 OTTHUMG00000175877 NG_022102 PGOHUM00000292862 HGNC:31130 +chr15 67200666 67255195 HGNC:25662 0 - 67200666 67255195 13,20,118 AAGAB alpha and gamma adaptin binding protein protein-coding gene gene with protein product Approved 15q23 15q23 FLJ11506|p34 2009-07-20 2017-06-13 2023-01-20 79719 ENSG00000103591 OTTHUMG00000172246 uc002aqk.6 AL136715 NM_024666 CCDS42050|CCDS61679 Q6PD74 11230166|10477754 MGI:1914189 RGD:621601 614888 317366 HGNC:25662 ENST00000261880.10|NM_024666.5 HGNC:25662 +chr15_GL383554v1_alt 206203 208386 HGNC:31130 0 - 206203 208386 253,66,253 ABCB10P4 ABCB10 pseudogene 4 pseudogene pseudogene Approved 15q13.1 15q13.1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4|ATP binding cassette subfamily B member 10 pseudogene 4 2010-06-17 2018-05-23 2018-05-23 100132289 ENSG00000260053 OTTHUMG00000175877 NG_022102 PGOHUM00000292862 HGNC:31130 +chr15_KI270848v1_alt 280376 282557 HGNC:14114 0 + 280376 282557 253,66,253 ABCB10P1 ABCB10 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 M-ABC2|MABC2 ABCB10P|ABCB10P2 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1|ATP binding cassette subfamily B member 10 pseudogene 1 2001-07-13 2008-09-09 2018-05-23 2018-05-23 56476 ENSG00000274099 OTTHUMG00000188344 AF218417 NG_005041 7766993|10922475 PGOHUM00000293137 HGNC:14114 +chr15_KI270905v1_alt 649963 652126 HGNC:31129 0 + 649963 652126 253,66,253 ABCB10P3 ABCB10 pseudogene 3 pseudogene pseudogene Approved 15q13.1 15q13.1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 3|ATP binding cassette subfamily B member 10 pseudogene 3 2010-06-17 2018-05-23 2018-05-23 728248 ENSG00000261524 OTTHUMG00000175874 NG_022122 PGOHUM00000293151 HGNC:31129 +chr15_KI270905v1_alt 782423 784605 HGNC:31130 0 - 782423 784605 253,66,253 ABCB10P4 ABCB10 pseudogene 4 pseudogene pseudogene Approved 15q13.1 15q13.1 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 4|ATP binding cassette subfamily B member 10 pseudogene 4 2010-06-17 2018-05-23 2018-05-23 100132289 ENSG00000260053 OTTHUMG00000175877 NG_022102 PGOHUM00000292862 HGNC:31130 +chr15_KI270906v1_alt 149378 151559 HGNC:14114 0 + 149378 151559 253,66,253 ABCB10P1 ABCB10 pseudogene 1 pseudogene pseudogene Approved 15q11.2 15q11.2 M-ABC2|MABC2 ABCB10P|ABCB10P2 ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 2|ATP-binding cassette, sub-family B (MDR/TAP), member 10 pseudogene 1|ATP binding cassette subfamily B member 10 pseudogene 1 2001-07-13 2008-09-09 2018-05-23 2018-05-23 56476 ENSG00000274099 OTTHUMG00000188344 AF218417 NG_005041 7766993|10922475 PGOHUM00000293137 HGNC:14114 +chr16 2275880 2340746 HGNC:33 0 - 2275880 2340746 13,20,118 ABCA3 ATP binding cassette subfamily A member 3 protein-coding gene gene with protein product Approved 16p13.3 16p13.3 ABC-C|EST111653|LBM180 ABC3 ATP-binding cassette, sub-family A (ABC1), member 3 ATP binding cassette subfamily A 805 1996-08-08 2015-11-13 2024-09-16 21 ENSG00000167972 OTTHUMG00000128845 uc002cpy.2 U78735 NM_001089 CCDS10466 Q99758 8706931 MGI:1351617 RGD:1307174 601615 140560 objectId:758 7.6.2.1 HGNC:33 ENST00000301732.10|NM_001089.3 HGNC:33 +chr16 2339108 2426699 HGNC:32972 0 + 2339108 2426699 253,66,253 ABCA17P ATP binding cassette subfamily A member 17, pseudogene pseudogene pseudogene Approved 16p13.3 16p13.3 ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene ATP binding cassette subfamily A 805 2006-09-19 2015-11-13 2020-08-13 650655 ENSG00000238098 OTTHUMG00000154348 DQ266102 NR_003574 16968533 MGI:3625331 PGOHUM00000250669 HGNC:32972 +chr16 8674595 8784575 HGNC:23 0 + 8674595 8784575 13,20,118 ABAT 4-aminobutyrate aminotransferase protein-coding gene gene with protein product Approved 16p13.2 16p13.2 GABAT|GABA-T 4-aminobutyrate transaminase|gamma-aminobutyrate aminotransferase|GABA transaminase 1996-03-13 2023-01-20 18 ENSG00000183044 OTTHUMG00000048201 uc002czc.5 L32961 NM_020686 P80404 7721088 MGI:2443582 RGD:620948 137150 117617 2.6.1.19 HGNC:23 ENST00000268251.13|NM_020686.6 HGNC:23 +chr16 14810086 14825208 HGNC:33353 0 - 14810086 14825208 253,66,253 ABCC6P2 ATP binding cassette subfamily C member 6 pseudogene 2 pseudogene pseudogene Approved 16p13.11 16p13.11 ATP-binding cassette, sub-family C, member 6 pseudogene 2 2007-02-23 2015-11-13 2016-08-22 730013 ENSG00000255277 OTTHUMG00000166266 NR_023387 22873774 PGOHUM00000293430 HGNC:33353 +chr16 15949137 16143257 HGNC:51 0 + 15949137 16143257 13,20,118 ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) protein-coding gene gene with protein product Approved 16p13.11 16p13.11 GS-X glutathione S-conjugate export pump MRP|MRP1 multidrug resistance associated protein 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1|ATP binding cassette subfamily C member 1 Blood group antigens|ATP binding cassette subfamily C 454|807 1993-06-29 2023-11-02 2023-11-02 4363 ENSG00000103222 OTTHUMG00000048267 uc010bvi.4 L05628 NM_004996 CCDS42122|CCDS45427 P33527 8098549|1360704 MGI:102676 RGD:3112 158343 469890 objectId:779 HGNC:51 ENST00000399410.8|NM_004996.4 HGNC:51 +chr16 16149564 16223522 HGNC:57 0 - 16149564 16223522 13,20,118 ABCC6 ATP binding cassette subfamily C member 6 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 MRP6|EST349056|MLP1|URG7 ARA|PXE pseudoxanthoma elasticum|ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ATP binding cassette subfamily C 807 1997-10-27 2015-11-13 2023-01-20 368 ENSG00000091262 OTTHUMG00000129967 uc002den.5 AF076622 NM_001079528 O95255 9721217|11439001 MGI:1351634 RGD:620268 Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)|http://www.retina-international.org/files/sci-news/abcc6mut.htm|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6|LRG_1115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1115.xml 603234 117658 objectId:784 HGNC:57 ENST00000205557.12|NM_001171.6 HGNC:57 +chr16 18570870 18598328 HGNC:33352 0 + 18570870 18598328 253,66,253 ABCC6P1 ATP binding cassette subfamily C member 6 pseudogene 1 pseudogene pseudogene Approved 16p12.3 16p12.3 ATP-binding cassette, sub-family C, member 6 pseudogene 1|ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)|ATP binding cassette subfamily C member 6 pseudogene 1 (functional) 2007-02-23 2016-01-29 2016-08-22 653190 ENSG00000256340 OTTHUMG00000177192 BC075833 NR_003569 18405356|22873774 PGOHUM00000307541 HGNC:33352 +chr16 21315910 21339037 HGNC:34405 0 + 21315910 21339037 253,66,253 ABCA15P ATP binding cassette subfamily A member 15, pseudogene pseudogene pseudogene Approved 16p12.2 16p12.2 FLJ41766 NCRNA00169|CRYM-AS1 non-protein coding RNA 169|CRYM antisense RNA 1 (non-protein coding)|CRYM antisense RNA 1 2009-01-26 2022-06-16 2022-06-16 2023-03-15 400508 ENSG00000189149 OTTHUMG00000156701 uc010bwr.2 NR_026675 35414504 MGI:2388709 CRYM-AS1 HGNC:34405 +chr16 21938864 21944958 HGNC:55707 0 + 21938864 21944958 253,66,253 ABCA3P1 ABCA3 pseudogene 1 pseudogene pseudogene Approved 16p12.2 16p12.2 2021-07-05 2021-07-05 342293 ENSG00000257408 NG_022511 +chr16 32475050 32478250 HGNC:64 0 - 32475050 32478250 253,66,253 ABCD1P3 ATP binding cassette subfamily D member 1 pseudogene 3 pseudogene pseudogene Approved 16p11.2 16p11.2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 3 1999-12-17 2015-11-13 2015-11-13 26982 ENSG00000261233 OTTHUMG00000176500 U90289 NG_001269 9215666 PGOHUM00000259051 HGNC:64 +chr16 48080881 48156018 HGNC:14640 0 - 48080881 48156018 13,20,118 ABCC12 ATP binding cassette subfamily C member 12 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP9 ATP-binding cassette, sub-family C (CFTR/MRP), member 12 ATP binding cassette subfamily C 807 2001-08-16 2015-11-13 2023-03-15 94160 ENSG00000140798 OTTHUMG00000133143 uc002efc.1 AY040220 NM_033226 CCDS92153|CCDS92154|CCDS92155 Q96J65 11435397|11483364 MGI:2441679 RGD:735100 607041 objectId:787 HGNC:14640 ENST00000311303.8|NM_001393797.1 +chr16 48165772 48247568 HGNC:14639 0 - 48165772 48247568 13,20,118 ABCC11 ATP binding cassette subfamily C member 11 protein-coding gene gene with protein product Approved 16q12.1 16q12.1 MRP8 ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ATP binding cassette subfamily C 807 2001-06-01 2015-11-13 2024-09-16 85320 ENSG00000121270 OTTHUMG00000133146 uc059txd.1 AF367202 NM_032583 CCDS10732|CCDS10733 Q96J66 11483364|11435397 607040 objectId:786 7.6.2.2|7.6.2.3 HGNC:14639 ENST00000356608.7|NM_001370497.1 +chr16 70251982 70289707 HGNC:20 0 - 70251982 70289707 13,20,118 AARS1 alanyl-tRNA synthetase 1 protein-coding gene gene with protein product Approved 16q22.1 16q22.1 CMT2N|AlaRS alanine tRNA ligase 1, cytoplasmic AARS alanyl-tRNA synthetase Aminoacyl tRNA synthetases, Class II 132 1995-07-11 2019-07-15 2019-07-15 2023-01-20 16 ENSG00000090861 OTTHUMG00000177042 uc002eyn.2 D32050 NM_001605 CCDS32474 P49588 8595897 MGI:2384560 RGD:1304832 LRG_359|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_359.xml 601065 232194 6.1.1.7 HGNC:20 ENST00000261772.13|NM_001605.3 HGNC:20 +chr16_KI270853v1_alt 962182 966093 HGNC:33353 0 + 962182 966093 253,66,253 ABCC6P2 ATP binding cassette subfamily C member 6 pseudogene 2 pseudogene pseudogene Approved 16p13.11 16p13.11 ATP-binding cassette, sub-family C, member 6 pseudogene 2 2007-02-23 2015-11-13 2016-08-22 730013 ENSG00000255277 OTTHUMG00000166266 NR_023387 22873774 PGOHUM00000293430 HGNC:33353 +chr16_KI270853v1_alt 1607546 1800966 HGNC:51 0 + 1607546 1800966 13,20,118 ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) protein-coding gene gene with protein product Approved 16p13.11 16p13.11 GS-X glutathione S-conjugate export pump MRP|MRP1 multidrug resistance associated protein 1|ATP-binding cassette, sub-family C (CFTR/MRP), member 1|ATP binding cassette subfamily C member 1 Blood group antigens|ATP binding cassette subfamily C 454|807 1993-06-29 2023-11-02 2023-11-02 4363 ENSG00000103222 OTTHUMG00000048267 uc010bvi.4 L05628 NM_004996 CCDS42122|CCDS45427 P33527 8098549|1360704 MGI:102676 RGD:3112 158343 469890 objectId:779 HGNC:51 ENST00000399410.8|NM_004996.4 HGNC:51 +chr16_KI270853v1_alt 1806847 1881517 HGNC:57 0 - 1806847 1881517 13,20,118 ABCC6 ATP binding cassette subfamily C member 6 protein-coding gene gene with protein product Approved 16p13.11 16p13.11 MRP6|EST349056|MLP1|URG7 ARA|PXE pseudoxanthoma elasticum|ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ATP binding cassette subfamily C 807 1997-10-27 2015-11-13 2023-01-20 368 ENSG00000091262 OTTHUMG00000129967 uc002den.5 AF076622 NM_001079528 O95255 9721217|11439001 MGI:1351634 RGD:620268 Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)|http://www.retina-international.org/files/sci-news/abcc6mut.htm|LOVD at NCBI|http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6|LRG_1115|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1115.xml 603234 117658 objectId:784 HGNC:57 ENST00000205557.12|NM_001171.6 HGNC:57 +chr17 36948924 37056871 HGNC:19235 0 + 36948924 37056871 13,20,118 AATF apoptosis antagonizing transcription factor protein-coding gene gene with protein product Approved 17q12 17q12 DED|CHE-1|CHE1|BFR2 MicroRNA protein coding host genes 1691 2002-09-13 2023-01-20 26574 ENSG00000275700 OTTHUMG00000188458 uc002hni.3 AF083208 NM_012138 Q9NY61 11027528|10783144 MGI:1929608 RGD:620685 608463 HGNC:19235 ENST00000619387.5|NM_012138.4 +chr17 42950525 42964498 HGNC:28417 0 - 42950525 42964498 13,20,118 AARSD1 alanyl-tRNA synthetase domain containing 1 protein-coding gene gene with protein product Approved 17q21.31 17q21.31 MGC2744|AlaXp 2005-11-15 2023-01-20 80755 ENSG00000266967 OTTHUMG00000153515 uc031raq.2 BC004172 NM_001261434 CCDS58552 Q9BTE6 26884463 MGI:1916934 RGD:1561650 613212 HGNC:28417 ENST00000427569.7|NM_001261434.2 +chr17 50634776 50692253 HGNC:54 0 + 50634776 50692253 13,20,118 ABCC3 ATP binding cassette subfamily C member 3 protein-coding gene gene with protein product Approved 17q21.33 17q21.33 MRP3|cMOAT2|EST90757|MLP2|MOAT-D canalicular multispecific organic anion transporter 2 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 8714 ENSG00000108846 OTTHUMG00000162245 uc002isl.4 Y17151 NM_020038 O15438 8894702|9827529 MGI:1923658 RGD:71101 604323 469892 objectId:781 HGNC:54 ENST00000285238.13|NM_003786.4 +chr17 68867288 68955392 HGNC:38 0 - 68867288 68955392 13,20,118 ABCA8 ATP binding cassette subfamily A member 8 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 KIAA0822 ATP-binding cassette, sub-family A (ABC1), member 8 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10351 ENSG00000141338 OTTHUMG00000180192 uc002jhq.5 AB020629 NM_007168 O94911 12379217|23560799 MGI:1351668|MGI:2386846 RGD:1307069 612505 objectId:763 HGNC:38 ENST00000586539.6|NM_001288985.2 +chr17 68944530 69042784 HGNC:39983 0 + 68944530 69042784 9,99,11 ABCA9-AS1 ABCA9 antisense RNA 1 non-coding RNA long non-coding RNA Approved 17q24.2 17q24.2 ABCA9 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-04-20 2012-08-15 2014-11-19 104355297 ENSG00000231749 OTTHUMG00000140370 uc060jgk.1 NR_126414 URS000018F63F ABCA9-AS1 HGNC:39983 +chr17 68974487 69060949 HGNC:39 0 - 68974487 69060949 13,20,118 ABCA9 ATP binding cassette subfamily A member 9 protein-coding gene gene with protein product Approved 17q24.2 17q24.2 EST640918 ATP-binding cassette, sub-family A (ABC1), member 9 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-03-15 10350 ENSG00000154258 OTTHUMG00000140371 uc002jhu.4 AF423307 NM_172386 CCDS11681 Q8IUA7 12150964 MGI:2386796 RGD:1305931 612507 objectId:764 HGNC:39 ENST00000340001.9|NM_080283.4 +chr17 69078701 69141895 HGNC:36 0 - 69078701 69141895 13,20,118 ABCA6 ATP binding cassette subfamily A member 6 protein-coding gene gene with protein product Approved 17q24.2-q24.3 17q24.2-q24.3 EST155051 ATP-binding cassette, sub-family A (ABC1), member 6 ATP binding cassette subfamily A|MicroRNA protein coding host genes 805|1691 1999-10-26 2015-11-13 2023-01-20 23460 ENSG00000154262 OTTHUMG00000180258 uc002jhw.2 U66680 NM_080284 CCDS11683 Q8N139 8894702 MGI:1923434 RGD:1308998 612504 objectId:761 HGNC:36 ENST00000284425.7|NM_080284.3 +chr17 69147213 69244846 HGNC:30 0 - 69147213 69244846 13,20,118 ABCA10 ATP binding cassette subfamily A member 10 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST698739 ATP-binding cassette, sub-family A (ABC1), member 10 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2023-01-20 10349 ENSG00000154263 OTTHUMG00000164716 uc010dfa.2 AY247065 NM_080282 CCDS11684 Q8WWZ4 12821155|11435397 RGD:1307333 612508 469886 objectId:765 HGNC:30 ENST00000690296.1|NM_001377321.1 +chr17 69244310 69327244 HGNC:35 0 - 69244310 69327244 13,20,118 ABCA5 ATP binding cassette subfamily A member 5 protein-coding gene gene with protein product Approved 17q24.3 17q24.3 EST90625 ATP-binding cassette, sub-family A (ABC1), member 5 ATP binding cassette subfamily A 805 1999-10-26 2015-11-13 2023-01-20 23461 ENSG00000154265 OTTHUMG00000180303 uc002jig.3 U66672 NM_018672 CCDS11685 Q8WWZ7 8894702 MGI:2386607 RGD:628661 612503 404800 objectId:760 HGNC:35 ENST00000392676.8|NM_172232.4 HGNC:35 +chr17 76453350 76470117 HGNC:19 0 + 76453350 76470117 13,20,118 AANAT aralkylamine N-acetyltransferase protein-coding gene gene with protein product Approved 17q25.1 17q25.1 SNAT serotonin N-acetyltransferase arylalkylamine N-acetyltransferase GCN5 related N-acetyltransferases 1134 1995-12-13 2010-05-07 2023-01-20 15 ENSG00000129673 OTTHUMG00000180179 uc002jro.4 U40347 NM_001088 Q16613 8661026 MGI:1328365 RGD:2006 600950 469884 2.3.1.87 HGNC:19 ENST00000392492.8|NM_001088.3 +chr17 81110486 81166221 HGNC:21 0 - 81110486 81166221 13,20,118 AATK apoptosis associated tyrosine kinase protein-coding gene gene with protein product Approved 17q25.3 17q25.3 AATYK|KIAA0641|LMTK1|LMR1|AATYK1|PPP1R77 lemur tyrosine kinase 1|protein phosphatase 1, regulatory subunit 77 Receptor tyrosine kinases|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes 321|694|1691 1999-09-16 2016-06-09 2023-01-20 9625 ENSG00000181409 OTTHUMG00000132717 uc010dia.4 AB014541 NM_004920 Q6ZMQ8 9734811|10083745|22573681 MGI:1197518 RGD:1590980 605276 HGNC:21 ENST00000326724.9|NM_001080395.3 +chr17_KI270857v1_alt 1185239 1293236 HGNC:19235 0 + 1185239 1293236 13,20,118 AATF apoptosis antagonizing transcription factor protein-coding gene gene with protein product Approved 17q12 17q12 DED|CHE-1|CHE1|BFR2 MicroRNA protein coding host genes 1691 2002-09-13 2023-01-20 26574 ENSG00000275700 OTTHUMG00000188458 uc002hni.3 AF083208 NM_012138 Q9NY61 11027528|10783144 MGI:1929608 RGD:620685 608463 HGNC:19235 ENST00000619387.5|NM_012138.4 +chr18 59693045 59693473 HGNC:136 0 - 59693045 59693473 253,66,253 ACTBP3 ACTB pseudogene 3 pseudogene pseudogene Approved 18q21.33 18q21.33 actin, beta pseudogene 3 1986-01-01 2019-01-10 2019-01-10 63 NG_016990 3837182 HGNC:136 +chr19 1039996 1065572 HGNC:37 0 + 1039996 1065572 13,20,118 ABCA7 ATP binding cassette subfamily A member 7 protein-coding gene gene with protein product Approved 19p13.3 19p13.3 ABCX ATP-binding cassette, sub-family A (ABC1), member 7 ATP binding cassette subfamily A 805 1999-06-11 2015-11-13 2024-09-16 10347 ENSG00000064687 OTTHUMG00000167547 uc002lqw.5 AF328787 NM_019112 CCDS12055 Q8IZY2 10873640|11435699|12917409 MGI:1351646 RGD:1303134 605414 objectId:762 7.6.2.1 HGNC:37 ENST00000263094.11|NM_019112.4 HGNC:37 +chr19 58345177 58353492 HGNC:5 0 - 58345177 58353492 13,20,118 A1BG alpha-1-B glycoprotein protein-coding gene gene with protein product Approved 19q13.43 19q13.43 Immunoglobulin like domain containing 594 1989-06-30 2023-01-20 1 ENSG00000121410 OTTHUMG00000183507 uc002qsd.5 NM_130786 CCDS12976 P04217 2591067 MGI:2152878 RGD:69417 138670 I43.950 HGNC:5 ENST00000263100.8|NM_130786.4 +chr19 58347717 58355455 HGNC:37133 0 + 58347717 58355455 9,99,11 A1BG-AS1 A1BG antisense RNA 1 non-coding RNA long non-coding RNA Approved 19q13.43 19q13.43 FLJ23569 NCRNA00181|A1BGAS|A1BG-AS non-protein coding RNA 181|A1BG antisense RNA (non-protein coding)|A1BG antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2009-07-20 2010-11-25 2012-08-15 2013-06-27 503538 ENSG00000268895 OTTHUMG00000183508 uc002qse.3 BC040926 NR_015380 URS00007E4F6E A1BG-AS1 HGNC:37133 +chr2 69457996 69674349 HGNC:19679 0 - 69457996 69674349 13,20,118 AAK1 AP2 associated kinase 1 protein-coding gene gene with protein product Approved 2p13.3 02p13.3 KIAA1048|DKFZp686K16132 Small nucleolar RNA protein coding host genes 1835 2003-07-21 2023-01-20 22848 ENSG00000115977 OTTHUMG00000129648 uc002sfp.3 AB028971 NM_014911 CCDS1893 Q2M2I8 11877461|12471243 MGI:1098687 RGD:1305520 616405 HGNC:19679 ENST00000409085.9|NM_014911.5 +chr2 89763172 89767368 HGNC:62 0 - 89763172 89767368 253,66,253 ABCD1P1 ATP binding cassette subfamily D member 1 pseudogene 1 pseudogene pseudogene Approved 2p11.2 02p11.2 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 1 1999-10-29 2015-11-13 2020-04-07 23785 U90290 NG_001246 8829626|9215666 PGOHUM00000297984 HGNC:62 +chr2 91840600 91843802 HGNC:42662 0 + 91840600 91843802 253,66,253 ABCD1P5 ATP binding cassette subfamily D member 1 pseudogene 5 pseudogene pseudogene Approved 2p11.1 02p11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 5 2011-08-12 2015-11-13 2015-11-13 642762 ENSG00000214330 OTTHUMG00000155089 NG_006974 PGOHUM00000240771 HGNC:42662 +chr2 168915497 169031324 HGNC:42 0 - 168915497 169031324 13,20,118 ABCB11 ATP binding cassette subfamily B member 11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 ABC16|SPGP|PFIC-2|PGY4 ABC member 16, MDR/TAP subfamily BSEP|PFIC2 progressive familial intrahepatic cholestasis 2|bile salt export pump|ATP-binding cassette, sub-family B (MDR/TAP), member 11 ATP binding cassette subfamily B 806 1998-09-25 2015-11-13 2023-01-20 8647 ENSG00000073734 OTTHUMG00000154039 uc002ueo.2 AF091582 NM_003742 CCDS46444 O95342 9806540 MGI:1351619 RGD:619930 CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=ABCB11|LRG_1199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1199.xml 603201 117631 objectId:778 HGNC:42 ENST00000650372.1|NM_003742.4 HGNC:42 +chr2 214931541 215138626 HGNC:14637 0 - 214931541 215138626 13,20,118 ABCA12 ATP binding cassette subfamily A member 12 protein-coding gene gene with protein product Approved 2q35 02q35 DKFZP434G232|LI2 ICR2B ichthyosis congenita II, lamellar ichthyosis B|ATP-binding cassette, sub-family A (ABC1), member 12 ATP binding cassette subfamily A 805 2001-08-16 2015-11-13 2024-09-16 26154 ENSG00000144452 OTTHUMG00000154801 uc002vew.3 AF418105 NM_173076 CCDS33372|CCDS33373 Q86UK0 11435397|12915478|8845852|10094194 MGI:2676312 RGD:1304586 607800 117620 objectId:766 7.6.2.1 HGNC:14637 ENST00000272895.12|NM_173076.3 HGNC:14637 +chr2 218264128 218270178 HGNC:18 0 - 218264128 218270178 13,20,118 AAMP angio associated migratory cell protein protein-coding gene gene with protein product Approved 2q35 02q35 WD repeat domain containing 362 1996-11-13 2015-12-08 2023-01-20 14 ENSG00000127837 OTTHUMG00000155202 uc002vhk.4 AB209790 NM_001087 Q13685 7743515 MGI:107809 RGD:1306281 603488 HGNC:18 ENST00000248450.9|NM_001087.5 +chr2 219209771 219218994 HGNC:47 0 - 219209771 219218994 13,20,118 ABCB6 ATP binding cassette subfamily B member 6 (LAN blood group) protein-coding gene gene with protein product Approved 2q35 02q35 EST45597|umat|MTABC3 ATP-binding cassette half-transporter ATP-binding cassette, sub-family B (MDR/TAP), member 6|ATP binding cassette subfamily B member 6 (Langereis blood group) Blood group antigens|ATP binding cassette subfamily B 454|806 1999-10-26 2024-01-22 2024-09-16 10058 ENSG00000115657 OTTHUMG00000133131 uc002vkc.3 AF070598 NM_005689 Q9NP58 8894702|9110174 MGI:1921354 RGD:71077 LRG_824|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_824.xml 605452 291794 objectId:773 7.6.2.5 HGNC:47 ENST00000265316.9|NM_005689.4 HGNC:47 +chr20 31721506 31723409 HGNC:49667 0 + 31721506 31723409 9,99,11 ABALON apoptotic BCL2L1-antisense long non-coding RNA non-coding RNA long non-coding RNA Approved 20q11.21 20q11.21 INXS apoptotic BCL-X-associated long ncRNA|intronic BCL-XS-inducing lncRNA Long non-coding RNAs with non-systematic symbols 1992 2014-03-13 2024-10-03 103021294 ENSG00000281376 OTTHUMG00000189574 KC505631 NR_131907 URS000047716D HGNC:49667 +chr20 36236130 36270918 HGNC:15886 0 + 36236130 36270918 13,20,118 AAR2 AAR2 splicing factor protein-coding gene gene with protein product Approved 20q11.23 20q11.23 bA234K24.2 C20orf4 chromosome 20 open reading frame 4|AAR2 splicing factor homolog (S. cerevisiae)|AAR2 splicing factor homolog 2001-06-21 2012-07-20 2019-02-18 2023-01-20 25980 ENSG00000131043 OTTHUMG00000032380 uc002xfc.4 NM_015511 CCDS13273 Q9Y312 26527271 MGI:1915545 RGD:1311066 617365 HGNC:15886 ENST00000320849.9|NM_001271874.2 HGNC:15886 +chr21 14274091 14362754 HGNC:16022 0 + 14274091 14362754 253,66,253 ABCC13 ATP binding cassette subfamily C member 13 (pseudogene) pseudogene pseudogene Approved 21q11.2 21q11.2 PRED6|C21orf73|ABCC13P ATP-binding cassette, sub-family C (CFTR/MRP), member 13 ATP binding cassette subfamily C 807 2002-11-11 2016-01-06 2023-03-15 150000 ENSG00000243064 OTTHUMG00000074257 AF418600 NR_003087 12445816|15203202 608835 PGOHUM00000258120 HGNC:16022 +chr21 43805757 43812567 HGNC:51526 0 - 43805757 43812567 9,99,11 AATBC apoptosis associated transcript in bladder cancer non-coding RNA long non-coding RNA Approved 21q22.3 21q22.3 apoptosis-associated transcript in bladder cancer Long non-coding RNAs with non-systematic symbols 1992 2015-02-13 2023-03-15 284837 ENSG00000215458 OTTHUMG00000086882 NR_026961 25473900 URS000075DB22 AATBC HGNC:51526 +chr22 16387693 16390887 HGNC:65 0 + 16387693 16390887 253,66,253 ABCD1P4 ATP binding cassette subfamily D member 1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 1999-12-17 2015-11-13 2015-11-13 26957 ENSG00000225293 OTTHUMG00000030330 U90291 NG_001265 9215666|10591208 PGOHUM00000246377 HGNC:65 +chr22 42692120 42721298 HGNC:18149 0 - 42692120 42721298 13,20,118 A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) protein-coding gene gene with protein product Approved 22q13.2 22q13.2 A14GALT|Gb3S|P(k) Gb3 synthase|CD77 synthase|globotriaosylceramide synthase|lactosylceramide 4-alpha-galactosyltransferase P1 alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)|P one antigen (P blood group)|alpha 1,4-galactosyltransferase (P blood group) Alpha 1,4-glycosyltransferases|Blood group antigens 442|454 2002-02-06 2023-11-07 2023-11-07 53947 ENSG00000128274 OTTHUMG00000150744 uc062ewl.1 NM_017436 CCDS14041 Q9NPC4 10854428|20971946 MGI:3512453 RGD:621583 LRG_795|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_795.xml 607922 2.4.1.228 HGNC:18149 ENST00000642412.2|NM_017436.7 +chr22_ML143378v1_fix 359699 362893 HGNC:65 0 + 359699 362893 253,66,253 ABCD1P4 ATP binding cassette subfamily D member 1 pseudogene 4 pseudogene pseudogene Approved 22q11.1 22q11.1 ATP-binding cassette, sub-family D (ALD), member 1, pseudogene 4 1999-12-17 2015-11-13 2015-11-13 26957 ENSG00000225293 OTTHUMG00000030330 U90291 NG_001265 9215666|10591208 PGOHUM00000246377 HGNC:65 +chr2_GL383522v1_alt 109564 123060 HGNC:42 0 - 109564 123060 13,20,118 ABCB11 ATP binding cassette subfamily B member 11 protein-coding gene gene with protein product Approved 2q31.1 02q31.1 ABC16|SPGP|PFIC-2|PGY4 ABC member 16, MDR/TAP subfamily BSEP|PFIC2 progressive familial intrahepatic cholestasis 2|bile salt export pump|ATP-binding cassette, sub-family B (MDR/TAP), member 11 ATP binding cassette subfamily B 806 1998-09-25 2015-11-13 2023-01-20 8647 ENSG00000073734 OTTHUMG00000154039 uc002ueo.2 AF091582 NM_003742 CCDS46444 O95342 9806540 MGI:1351619 RGD:619930 CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=ABCB11|LRG_1199|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1199.xml 603201 117631 objectId:778 HGNC:42 ENST00000650372.1|NM_003742.4 HGNC:42 +chr3 138123712 138132390 HGNC:17968 0 - 138123712 138132390 13,20,118 A4GNT alpha-1,4-N-acetylglucosaminyltransferase protein-coding gene gene with protein product Approved 3q22.3 03q22.3 alpha4GnT Alpha 1,4-glycosyltransferases 442 2004-07-12 2023-01-20 51146 ENSG00000118017 OTTHUMG00000159820 uc003ers.2 AF141315 NM_016161 CCDS3097 Q9UNA3 10430883 MGI:2143261 RGD:1590210 616709 HGNC:17968 ENST00000236709.4|NM_016161.3 +chr3 151552377 151928178 HGNC:50301 0 - 151552377 151928178 9,99,11 AADACL2-AS1 AADACL2 antisense RNA 1 non-coding RNA long non-coding RNA Approved 3q25.1 03q25.1 Antisense RNAs 1987 2014-04-07 2014-04-07 101928142 ENSG00000242908 OTTHUMG00000159877 NR_110202 URS000075D0ED AADACL2-AS1 HGNC:50301 +chr3 151733915 151761339 HGNC:24427 0 + 151733915 151761339 13,20,118 AADACL2 arylacetamide deacetylase like 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 MGC72001 Arylacetamide deacetylase family 465 2005-03-18 2016-05-26 2023-01-20 344752 ENSG00000197953 OTTHUMG00000155914 uc003ezc.4 BC065724 NM_207365 CCDS3161 Q6P093 25715734 MGI:3646333 RGD:1563197 HGNC:24427 ENST00000356517.4|NM_207365.4 +chr3 151770473 151784421 HGNC:50305 0 + 151770473 151784421 253,66,253 AADACP1 arylacetamide deacetylase pseudogene 1 pseudogene pseudogene Approved 3q25.1 03q25.1 2014-04-07 2016-08-22 201651 ENSG00000240602 OTTHUMG00000159879 NR_026915 PGOHUM00000299631 HGNC:50305 +chr3 151814072 151828488 HGNC:17 0 + 151814072 151828488 13,20,118 AADAC arylacetamide deacetylase protein-coding gene gene with protein product Approved 3q25.1 03q25.1 DAC|CES5A1 arylacetamide deacetylase (esterase) Lipases|Arylacetamide deacetylase family 464|465 1996-12-27 2012-07-13 2023-01-20 13 ENSG00000114771 OTTHUMG00000159876 uc003eze.4 L32179 NM_001086 CCDS33877 P22760 8063807|9299245 MGI:1915008 RGD:631440 600338 S09.991 3.1.1.3 HGNC:17 ENST00000232892.12|NM_001086.3 HGNC:17 +chr3 183919933 184017939 HGNC:56 0 - 183919933 184017939 13,20,118 ABCC5 ATP binding cassette subfamily C member 5 protein-coding gene gene with protein product Approved 3q27.1 03q27.1 MRP5|SMRP|EST277145|MOAT-C ATP-binding cassette, sub-family C (CFTR/MRP), member 5 ATP binding cassette subfamily C 807 1999-10-26 2015-11-13 2023-01-20 10057 ENSG00000114770 OTTHUMG00000156871 uc003fmg.4 AF104942 NM_005688 CCDS33898|CCDS43176 O15440 8894702|9827529 MGI:1351644 RGD:70913 605251 objectId:783 HGNC:56 ENST00000334444.11|NM_005688.4 +chr3 184006337 184011419 HGNC:40055 0 + 184006337 184011419 9,99,11 ABCC5-AS1 ABCC5 antisense RNA 1 non-coding RNA long non-coding RNA Approved 3q27.1 03q27.1 ABCC5 antisense RNA 1 (non-protein coding) Antisense RNAs 1987 2011-07-27 2012-08-15 2014-11-18 100873982 ENSG00000223882 OTTHUMG00000156870 uc031scp.1 NR_046570 URS0000221CD6 ABCC5-AS1 HGNC:40055 +chr3_GL383526v1_alt 155088 180671 HGNC:24427 0 + 155088 180671 13,20,118 AADACL2 arylacetamide deacetylase like 2 protein-coding gene gene with protein product Approved 3q25.1 03q25.1 MGC72001 Arylacetamide deacetylase family 465 2005-03-18 2016-05-26 2023-01-20 344752 ENSG00000197953 OTTHUMG00000155914 uc003ezc.4 BC065724 NM_207365 CCDS3161 Q6P093 25715734 MGI:3646333 RGD:1563197 HGNC:24427 ENST00000356517.4|NM_207365.4 +chr3_GL383526v1_alt 172615 176304 HGNC:50301 0 - 172615 176304 9,99,11 AADACL2-AS1 AADACL2 antisense RNA 1 non-coding RNA long non-coding RNA Approved 3q25.1 03q25.1 Antisense RNAs 1987 2014-04-07 2014-04-07 101928142 ENSG00000242908 OTTHUMG00000159877 NR_110202 URS000075D0ED AADACL2-AS1 HGNC:50301 +chr4 425772 427882 HGNC:31 0 - 425772 427882 253,66,253 ABCA11P ATP binding cassette subfamily A member 11, pseudogene pseudogene pseudogene Approved 4p16.3 04p16.3 EST1133530|FLJ14297 ABCA11 ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene ATP binding cassette subfamily A 805 1999-06-11 2008-09-09 2015-11-13 2023-03-15 79963 ENSG00000251595 OTTHUMG00000159884 AK024359 NR_002451.2 PGOHUM00000245425 HGNC:31 +chr4 56338286 56387508 HGNC:23993 0 - 56338286 56387508 13,20,118 AASDH aminoadipate-semialdehyde dehydrogenase protein-coding gene gene with protein product Approved 4q12 04q12 NRPS998|LYS2|ACSF4 acyl-CoA synthetase family member 4|Beta-alanine-activating enzyme Acyl-CoA synthetase family 40 2007-10-17 2023-01-20 132949 ENSG00000157426 OTTHUMG00000128841 uc003hbn.5 AF516672 NM_181806 Q4L235 15865210|12712191|17762044 MGI:2442517 RGD:1311135 614365 1.2.1.31 HGNC:23993 ENST00000205214.11|NM_181806.4 +chr4 132592083 132592536 HGNC:49894 0 + 132592083 132592536 253,66,253 AARS1P1 alanyl-tRNA synthetase 1 pseudogene 1 pseudogene pseudogene Approved 4q28.3 04q28.3 AARSP1 alanyl-tRNA synthetase pseudogene 1 2014-03-18 2019-07-15 2019-07-15 2020-04-20 106480683 ENSG00000249038 OTTHUMG00000161188 NG_043271 PGOHUM00000246081 HGNC:49894 +chr4 145098287 145129524 HGNC:69 0 + 145098287 145129524 13,20,118 ABCE1 ATP binding cassette subfamily E member 1 protein-coding gene gene with protein product Approved 4q31.21 04q31.21 RLI|OABP|RLI1 RNase L inhibitor 1 RNASEL1|RNASELI|RNS4I ATP-binding cassette, sub-family E (OABP), member 1 ATP binding cassette subfamily E 809 1995-11-01 2015-11-13 2023-01-20 6059 ENSG00000164163 OTTHUMG00000161478 uc003ijy.4 X74987 NM_002940 CCDS34071 P61221 7539425 MGI:1195458 RGD:1305301 601213 HGNC:69 ENST00000296577.9|NM_002940.3 +chr4 170060221 170091699 HGNC:17929 0 - 170060221 170091699 13,20,118 AADAT aminoadipate aminotransferase protein-coding gene gene with protein product Approved 4q33 04q33 KATII|KAT2|KYAT2 kynurenine aminotransferase II|L kynurenine/alpha aminoadipate aminotransferase 2002-01-16 2023-01-20 51166 ENSG00000109576 OTTHUMG00000160912 uc032udw.1 AF097994 NM_016228 CCDS3814|CCDS75209 Q8N5Z0 12126930|10441733|18056995 MGI:1345167 RGD:2948 611754 2.6.1.39|2.6.1.7 HGNC:17929 ENST00000337664.9|NM_016228.4 +chr5 178764860 178818435 HGNC:18226 0 - 178764860 178818435 253,66,253 AACSP1 acetoacetyl-CoA synthetase pseudogene 1 pseudogene pseudogene Approved 5q35.3 05q35.3 AACSL acetoacetyl-CoA synthetase-like 2004-06-04 2010-09-29 2010-09-29 2020-04-20 729522 ENSG00000250420 OTTHUMG00000163584 NR_024035 HGNC:18226 +chr6 30571392 30597179 HGNC:70 0 + 30571392 30597179 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6 43427365 43450430 HGNC:52 0 + 43427365 43450430 13,20,118 ABCC10 ATP binding cassette subfamily C member 10 protein-coding gene gene with protein product Approved 6p21.1 06p21.1 EST182763|MRP7|SIMRP7 ATP-binding cassette, sub-family C (CFTR/MRP), member 10 ATP binding cassette subfamily C|MicroRNA protein coding host genes 807|1691 1999-10-26 2015-11-13 2024-09-16 89845 ENSG00000124574 OTTHUMG00000014733 uc003ouz.1 U66684 NM_033450 Q5T3U5 8894702 MGI:2386976 RGD:1306696 612509 objectId:785 7.6.2.2|7.6.2.3 HGNC:52 ENST00000372530.9|NM_001198934.2 +chr6 44298730 44313347 HGNC:21022 0 - 44298730 44313347 13,20,118 AARS2 alanyl-tRNA synthetase 2, mitochondrial protein-coding gene gene with protein product Approved 6p21.1 06p21.1 KIAA1270|bA444E17.1 alanine tRNA ligase 2, mitochondrial AARSL alanyl-tRNA synthetase like|alanyl-tRNA synthetase 2, mitochondrial (putative) Aminoacyl tRNA synthetases, Class II 132 2003-05-08 2007-02-23 2012-10-26 2023-01-20 57505 ENSG00000124608 OTTHUMG00000014766 uc010jza.2 AB033096 NM_020745 CCDS34464 Q5JTZ9 15779907|21549344 MGI:2681839 RGD:1310617 612035 269639 6.1.1.7 HGNC:21022 ENST00000244571.5|NM_020745.4 HGNC:21022 +chr6_GL000251v2_alt 2051097 2076903 HGNC:70 0 + 2051097 2076903 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6_GL000252v2_alt 1827202 1853009 HGNC:70 0 + 1827202 1853009 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6_GL000253v2_alt 1881604 1907409 HGNC:70 0 + 1881604 1907409 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6_GL000254v2_alt 1915421 1941226 HGNC:70 0 + 1915421 1941226 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6_GL000255v2_alt 1826462 1852267 HGNC:70 0 + 1826462 1852267 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr6_GL000256v2_alt 1872132 1897937 HGNC:70 0 + 1872132 1897937 13,20,118 ABCF1 ATP binding cassette subfamily F member 1 protein-coding gene gene with protein product Approved 6p21.33 06p21.33 EST123147 ABC50 ATP-binding cassette, sub-family F (GCN20), member 1 ATP binding cassette subfamily F|MicroRNA protein coding host genes 810|1691 1998-04-07 2015-11-13 2023-01-20 23 ENSG00000204574 OTTHUMG00000031094 uc003nql.4 AF027302 NM_001025091 CCDS34380|CCDS34381 Q8NE71 9790762 MGI:1351658 RGD:620286 603429 HGNC:70 ENST00000326195.13|NM_001025091.2 +chr7 20615666 20777038 HGNC:46 0 + 20615666 20777038 13,20,118 ABCB5 ATP binding cassette subfamily B member 5 protein-coding gene gene with protein product Approved 7p21.1 07p21.1 EST422562|ABCB5beta|ABCB5alpha P-glycoprotein ABCB5|ATP-binding cassette protein ATP-binding cassette, sub-family B (MDR/TAP), member 5 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2024-09-16 340273 ENSG00000004846 OTTHUMG00000094789 uc010kuh.4 U66692 NM_178559 Q2M3G0 8894702|12960149 MGI:1924956 RGD:1566342 611785 objectId:772 7.6.2.2 HGNC:46 ENST00000404938.7|NM_001163941.2 +chr7 48171457 48647497 HGNC:14638 0 + 48171457 48647497 13,20,118 ABCA13 ATP binding cassette subfamily A member 13 protein-coding gene gene with protein product Approved 7p12.3 07p12.3 FLJ33876|FLJ33951 ATP-binding cassette, sub-family A (ABC1), member 13 ATP binding cassette subfamily A 805 2004-12-21 2015-11-13 2023-01-20 154664 ENSG00000179869 OTTHUMG00000155840 uc003toq.2 AY204751 NM_152701 CCDS47584 Q86UQ4 12697998 MGI:2388707 RGD:1305895 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCA13 607807 objectId:767 HGNC:14638 ENST00000435803.6|NM_152701.5 HGNC:14638 +chr7 87401695 87480435 HGNC:45 0 - 87401695 87480435 13,20,118 ABCB4 ATP binding cassette subfamily B member 4 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 MDR2|PFIC-3|GBD1 PGY3|MDR3 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ATP binding cassette subfamily B 806 1988-05-11 2015-11-13 2024-09-16 5244 ENSG00000005471 OTTHUMG00000023396 uc003uix.1 M23234 NM_000443 P21439 2892668|11313316 MGI:97569 RGD:620248 171060 117639 objectId:771 7.6.2.1 HGNC:45 ENST00000649586.2|NM_000443.4 HGNC:45 +chr7 87503016 87713323 HGNC:40 0 - 87503016 87713323 13,20,118 ABCB1 ATP binding cassette subfamily B member 1 protein-coding gene gene with protein product Approved 7q21.12 07q21.12 P-gp|CD243|GP170|ABC20|p-170|PGY1 multidrug resistance protein 1|P-glycoprotein PGY1|MDR1|CLCS colchicin sensitivity|ATP-binding cassette, sub-family B (MDR/TAP), member 1 CD molecules|ATP binding cassette subfamily B 471|806 1986-01-01 2015-11-13 2024-09-16 5243 ENSG00000085563 OTTHUMG00000023393 uc003uiz.3 M14758 NM_000927 CCDS5608 P08183 3027054 MGI:97570|MGI:97568 RGD:619951 171050 318801 objectId:768 CD243 7.6.2.1 HGNC:40 ENST00000622132.5|NM_001348946.2 +chr7 122064582 122144308 HGNC:17366 0 - 122064582 122144308 13,20,118 AASS aminoadipate-semialdehyde synthase protein-coding gene gene with protein product Approved 7q31.32 07q31.32 LORSDH|LKRSDH|LKR/SDH alpha-aminoadipic semialdehyde synthase|lysine ketoglutarate reductase/saccharopine dehydrogenase|saccharopine dehydrogenase (NAD(+), L-glutamate-forming)|saccharopine dehydrogenase (NADP(+), L-lysine-forming) 2002-01-09 2024-06-14 10157 ENSG00000008311 OTTHUMG00000157058 uc003vkb.4 AF229180 NM_005763 CCDS5783 Q9UDR5 10775527|36128717 MGI:1353573 RGD:1310811 605113 123389 1.5.1.8|1.5.1.9 HGNC:17366 ENST00000417368.7|NM_005763.4 HGNC:17366 +chr7 151028421 151047782 HGNC:49 0 + 151028421 151047782 13,20,118 ABCB8 ATP binding cassette subfamily B member 8 protein-coding gene gene with protein product Approved 7q36.1 07q36.1 EST328128|M-ABC1|MABC1|MITOSUR mitochondrial ABC protein ATP-binding cassette, sub-family B (MDR/TAP), member 8 ATP binding cassette subfamily B 806 1999-10-26 2015-11-13 2023-01-20 11194 ENSG00000197150 OTTHUMG00000158686 uc003wik.6 AF047690 NM_007188 Q9NUT2 8894702 MGI:1351667 RGD:1307655 605464 469888 objectId:775 HGNC:49 ENST00000358849.9|NM_007188.5 +chr8 116938206 116944487 HGNC:33842 0 + 116938206 116944487 13,20,118 AARD alanine and arginine rich domain containing protein protein-coding gene gene with protein product Approved 8q24.11 08q24.11 LOC441376 Alanine and arginine-rich domain-containing protein C8orf85 chromosome 8 open reading frame 85 2009-01-23 2012-04-19 2012-04-19 2023-01-20 441376 ENSG00000205002 OTTHUMG00000164961 uc003yof.4 AB181519|BC140924 NM_001025357 CCDS34935 Q4LEZ3 27959439 MGI:2181621 RGD:631378 621042 HGNC:33842 ENST00000378279.4|NM_001025357.3 +chr9 104781005 104928155 HGNC:29 0 - 104781005 104928155 13,20,118 ABCA1 ATP binding cassette subfamily A member 1 protein-coding gene gene with protein product Approved 9q31.1 09q31.1 TGD Tangier disease ABC1|HDLDT1 ATP-binding cassette, sub-family A (ABC1), member 1 ATP binding cassette subfamily A 805 2005-03-17 2015-11-13 2024-09-16 19 ENSG00000165029 OTTHUMG00000020417 uc004bcl.4 AJ012376 NM_005502 CCDS6762 O95477 8088782|10431236|10431237|10431238 MGI:99607 RGD:631344 LRG_542|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_542.xml 600046 159528 objectId:756 7.6.2.1 HGNC:29 ENST00000374736.8|NM_005502.4 HGNC:29 +chr9 137007233 137028915 HGNC:32 0 - 137007233 137028915 13,20,118 ABCA2 ATP binding cassette subfamily A member 2 protein-coding gene gene with protein product Approved 9q34.3 09q34.3 ABC2 ATP-binding cassette, sub-family A (ABC1), member 2 ATP binding cassette subfamily A 805 1994-03-16 2015-11-13 2023-01-20 20 ENSG00000107331 OTTHUMG00000020958 uc064xhf.1 U18235 NM_001606 CCDS43909|CCDS94538|CCDS94539 Q9BZC7 8088782 MGI:99606 RGD:620238 600047 objectId:757 HGNC:32 ENST00000341511.11|NM_001606.5 HGNC:32 +chrX 74069275 74070832 HGNC:54994 0 + 74069275 74070832 253,66,253 AARSD1P1 AARSD1 pseudogene 1 pseudogene pseudogene Approved Xq13.2 Xq13.2 2020-05-15 2020-11-24 117981788 ENSG00000234969 NG_070706 PGOHUM00000305150 +chrX 75051047 75156732 HGNC:48 0 - 75051047 75156732 13,20,118 ABCB7 ATP binding cassette subfamily B member 7 protein-coding gene gene with protein product Approved Xq13.3 Xq13.3 EST140535|Atm1p|ASAT ABC7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ATP binding cassette subfamily B 806 1997-09-12 2015-11-13 2023-01-20 22 ENSG00000131269 OTTHUMG00000021862 uc004ebz.5 AF038950 NM_004299 O75027 9143506 MGI:109533 RGD:1303086 Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCB7|LRG_1162|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1162.xml 300135 117646 objectId:774 HGNC:48 ENST00000373394.8|NM_001271696.3 HGNC:48 +chrX 153724855 153744755 HGNC:61 0 + 153724855 153744755 13,20,118 ABCD1 ATP binding cassette subfamily D member 1 protein-coding gene gene with protein product Approved Xq28 Xq28 AMN|ALDP|adrenoleukodystrophy ALD ATP-binding cassette, sub-family D (ALD), member 1 ATP binding cassette subfamily D 808 1986-01-01 2015-11-13 2023-01-20 215 ENSG00000101986 OTTHUMG00000024215 uc004fif.2 Z21876 NM_000033 CCDS14728 P33897 8441467|6795626 MGI:1349215 RGD:1562128 X-linked Adrenoleukodystrophy Database|http://www.x-ald.nl|Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/ABCD1|LRG_1017|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1017.xml 300371 117677 objectId:788 HGNC:61 ENST00000218104.6|NM_000033.4 HGNC:61