BAP1 gene homepage

General information
Gene symbol BAP1
Gene name BRCA1 associated protein 1
Chromosome 3
Chromosomal band p21.1
Imprinted Unknown
Genomic reference LRG_529
Transcript reference NM_004656.3
Associated with diseases TPDS
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 206
Unique public DNA variants reported 71
Individuals with public variants 196
Hidden variants 0
Date created May 20, 2020
Date last updated June 29, 2020
Version BAP1:200629

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 950
Entrez Gene 8314
PubMed articles BAP1
OMIM - Gene 603089
OMIM - Diseases TPDS (Tumor Predisposition Syndrome)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000008 3 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) NM_004656.3 NP_004647.1 206


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2020. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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