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Human

Homo sapiens

Annotation progress

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chromosome 1 chromosome 2 chromosome 3 chromosome 4 chromosome 5 chromosome 6 chromosome 6 MHC Haplotypes chromosome 7 chromosome 8 chromosome 9 chromosome 10 chromosome 11 chromosome 12 chromosome 13 chromosome 14 chromosome 15 chromosome 16 chromosome 17 chromosome 18 chromosome 19 chromosome 19 LRC Haplotypes chromosome 20 chromosome 21 chromosome 22 chromosome X chromosome Y Karyotype selector

Shading indicates the karyotype bands

This Release

Release Date 23 Oct 2013
Datafreeze Date 22 July 2013
Havana Update Date 25 February 2014
As used in GENCODE 19; Ensembl 74 genebuild
Reference Assembly GRCh37.p8
Annotation Method Complete first pass Manual Annotation

Additional MHC and LRC Haplotypes

Region Haplotypes
MHC 6-COX, 6-QBL, 6-SSTO, 6-APD, 6-DBB, 6-MANN, 6-MCF.
LRC COX_1, COX_2, PGF_1, PGF_2, DM1A, DM1B, MC1A, MC1B.

Comparative Analysis

Region Available species / haplotypes / strains Examples
MHC dog, chimpanzee, gorilla, human (ref. plus 7 haplotypes), mouse (ref. plus 2 NOD strains), pig (Duroc & Large White), tasmanian devil, wallaby example
LRC pig, gorilla, human (ref. and 8 haplotypes). example
Auto­some human chr 1 and mouse chr 4; human chr 17 and mouse chr 11 1/4 17/11
Allo­some X: human, mouse and pig example
human chr 20, mouse chr 2 and approx 10 Mbp of pig chr 17 example

Loss of Function Variants

884 transcripts with SNVs, identified in human genomes as part of the pilot phase of the 1000 genome project, were manually annotated for their predicted functional effects. These are shown in a seperate track on Vega, and the names of the genes / transcripts are prefixed with 'LOF:'. Further information.

Havana Update

The Havana Update gene set presents updates to annotation outside of the regular release schedule.