+This track shows annotations from MITOMAP. +MITOMAP is a database of human mitochondrial DNA (mtDNA) information containing +a compilation of mtDNA variation. It allows users to look up human mitochondrial gene +loci, search for public mitochondrial sequences, and browse or search for reported +general population nucleotide variants as well as those reported in clinical disease. +
+ +
+These data are separated into two tracks:
+MITOMAP Control and Coding Variants
+This data track contains variants, including mini insertions and deletions, in the
+complete mtDNA. The item colors correspond to the variant type:
+control region vs.
+coding region.
+MITOMAP Disease Mutations
+This data track contains disease-annotated mutations (variants) in the
+complete mtDNA. The item colors correspond to the variant type:
+coding/control vs.
+rRNA/tRNA.
+For both tracks, item names correspond to the +variant nucleotide change, and mousing over features displays all available +metadata for MITOMAP. Linkouts to the specific MITOMAP datasets are available from +the item description pages, however, you must input the variant on MITOMAP.
+ ++All source data can be found on the +MITOMAP site. +
+The MITOMAP data on the UCSC Genome Browser can be explored interactively with the +Table Browser or the +Data Integrator. +For automated download and analysis, the genome annotation is stored at UCSC in bigBed +files that can be downloaded from the respective file, e.g. +MITOMAP Variants, on our download server. +The data may also be explored interactively using our +REST API.
+ +
+The file for this track may also be locally explored using our tools bigBedToBed
+which can be compiled from the source code or downloaded as a precompiled
+binary for your system. Instructions for downloading source code and binaries can be found
+here.
+The tools can also be used to obtain features confined to a given range, e.g.,
+
+bigBedToBed -chrom=chr1 -start=100000 -end=100500 http://hgdownload.soe.ucsc.edu/gbdb/$db/bbi/mitoMapVars.bb stdout
+The data were downloaded from the +MITOMAP resource. For the Control and Coding Variants track, the following +datasets were combined: +
+And for the Disease Mutations track, the following two were combined: + ++
+For all the details on how the data were processed and combined, see +the +MITOMAP makedoc. +
+ ++Thanks to the MITOMAP resource +for making these annotations available.
+ ++MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2023 +
++Lott, M.T., Leipzig, J.N., Derbeneva, O., Xie, H.M., Chalkia, D., Sarmady, M., Procaccio, V., +and Wallace, D.C. 2013. mtDNA variation and analysis using MITOMAP and MITOMASTER. Current +Protocols in Bioinformatics 1(123):1.23.1-26. PMID: 25489354 URL: http://www.mitomap.org +