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.
++The data in these tracks are automatically updated from MitoMap weekly.
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.
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 +The data were originally 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 +These tracks have since been updated to automatically fetch files from the MitoMap server. +For all the details on how the data are processed and combined, see the +href="https://github.com/ucscGenomeBrowser/kent/blob/master/src/hg/utils/otto/mitoMap/checkMitoMapUpdate.sh"> MITOMAP makedoc.
-Thanks to the MITOMAP resource +Thanks to Shiping Zhang and the entire 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