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BAP1

Basic information

Official gene symbol
BRCA1 associated protein 1
Conventional gene symbol
HUCEP-13, UCHL2, hucep-6
Classification
Tumor suppressor gene
Official gene ID
8314(Refseq)
8314 (KEGG)
Transcript ID
NM_004656
Functional classification
Protein homeostasis
Signaling pathway
Protein homeostasis
Chromosomal location
3p21.1 (chr3:52436304..52443894, complement)
Protein length
729

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr3:52443595 AGATCTCCTCCACTTGCACCCCCTTGACACCTGC A 3 / 17 p.G23fs c.68-4_96delGCAGGTGTCAAGGGGGTGCAAGTGGAGGAGATC   Tier2 1 / 78
chr3:52442569 CGG C 4 / 17 p.R59fs c.174_175delCC   Tier2 1 / 78
chr3:52440295 G A 9 / 17 p.Q253* c.757C>T COSV56230964 Tier2 2 / 78
chr3:52439128 G A 11 / 17 p.Q372* c.1114C>T COSV56232669 Tier2 1 / 78
chr3:52438491 G A 12 / 17 p.Q410* c.1228C>T COSV56235483 Tier2 1 / 78
chr3:52438505 TC T 12 / 17 p.E405fs c.1213delG   Tier2 1 / 78
chr3:52438516 A C 12 / 17 p.Y401* c.1203T>G   Tier2 1 / 78
chr3:52438535 G C 12 / 17 p.S395* c.1184C>G COSV56237183 Tier2 1 / 78
chr3:52437561 C A 13 / 17 p.E534* c.1600G>T   Tier2 1 / 78
chr3:52437781 TGA T 13 / 17 p.S460fs c.1378_1379delTC   Tier2 1 / 78
chr3:52437886 CTTCCCTGTTCCCTTCCCCT C 13 / 17 p.K419fs c.1256_1274delAGGGGAAGGGAACAGGGAA   Tier2 1 / 78
chr3:52436867 CTT C 15 / 17 p.K637fs c.1909_1910delAA   Tier2 2 / 78
chr3:52436621 C A 16 / 17 p.E685* c.2053G>T COSV56233270 Tier2 1 / 78
chr3:52436627 CCAGCATGGAGATAAAGG C 16 / 17 p.T677fs c.2030_2046delCCTTTATCTCCATGCTG   Tier2 1 / 78