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PBRM1

Basic information

Official gene symbol
polybromo 1
Conventional gene symbol
BAF180, PB1
Classification
Tumor suppressor gene
Official gene ID
55193(Refseq)
55193 (KEGG)
Transcript ID
NM_018313
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
3p21.1 (chr3:52582079..52713727, complement)
Protein length
1,582

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
chr3:52696220 G A 5 / 30 p.Q153* c.457C>T COSV56303401 Tier2 1 / 113
chr3:52696241 G A 5 / 30 p.R146* c.436C>T COSV56288194 Tier2 2 / 113
chr3:52692235 G A 6 / 30 p.Q209* c.625C>T COSV56262814 Tier2 1 / 113
chr3:52678727 G A 9 / 30 p.R298* c.892C>T COSV56261697 Tier2 1 / 113
chr3:52676016 CA C 11 / 30 p.M347fs c.1040delT   Tier2 1 / 113
chr3:52668619 G A 12 / 30 p.R434* c.1300C>T COSV56260075 Tier2 1 / 113
chr3:52662984 C A 13 / 30 p.E457* c.1369G>T COSV56280985 Tier2 1 / 113
chr3:52663018 TAA T 13 / 30 p.L445fs c.1333_1334delTT   Tier2 1 / 113
chr3:52651496 G A 15 / 30 p.R534* c.1600C>T COSV56261082 Tier2 1 / 113
chr3:52643348 G A 17 / 30 p.R850* c.2548C>T COSV56273176 Tier2 1 / 113
chr3:52643408 C A 17 / 30 p.E830* c.2488G>T   Tier2 1 / 113
chr3:52643615 T A 17 / 30 p.R761* c.2281A>T   Tier2 1 / 113
chr3:52643768 G A 17 / 30 p.R710* c.2128C>T COSV56260264 Tier2 6 / 113
chr3:52643796 AAT A 17 / 30 p.I700fs c.2098_2099delAT   Tier2 1 / 113
chr3:52643921 G A 17 / 30 p.Q659* c.1975C>T   Tier2 1 / 113
chr3:52637546 C A 18 / 30 p.E924* c.2770G>T COSV56273269 Tier2 1 / 113
chr3:52637555 G A 18 / 30 p.R921* c.2761C>T COSV56262126 Tier2 3 / 113
chr3:52637676 GC G 18 / 30 p.C880fs c.2639delG   Tier2 1 / 113
chr3:52623261 CTT C 19 / 30 p.K930fs c.2788_2789delAA   Tier2 1 / 113
chr3:52620448 AAG A 21 / 30 p.L1102fs c.3303_3304delCT   Tier2 1 / 113
chr3:52613111 GAC G 22 / 30 p.V1139fs c.3415_3416delGT   Tier2 1 / 113
chr3:52613209 C A 22 / 30 p.E1107* c.3319G>T COSV56265618 Tier2 1 / 113
chr3:52610557 C A 23 / 30 p.G1206* c.3616G>T COSV56309324 Tier2 1 / 113
chr3:52610678 A C 23 / 30 p.Y1165* c.3495T>G   Tier2 1 / 113
chr3:52610695 G A 23 / 30 p.R1160* c.3478C>T COSV56264314 Tier2 3 / 113
chr3:52598169 C A 24 / 30 p.E1233* c.3697G>T   Tier2 1 / 113
chr3:52597433 C A 25 / 30 p.E1293* c.3877G>T   Tier2 1 / 113
chr3:52597493 G A 25 / 30 p.Q1273* c.3817C>T COSV56270502 Tier2 1 / 113
chr3:52588857 G A 27 / 30 p.Q1391* c.4171C>T   Tier2 1 / 113
chr3:52584827 A AT 28 / 30 p.M1432fs c.4294dupA   Tier2 1 / 113
chr3:52584512 CTGAG C 29 / 30 p.H1499fs c.4497_4500delCTCA COSV56305977 Tier2 1 / 113
chr3:52582217 C CTT 30 / 30 p.E1538fs c.4610_4611insAA   Tier2 1 / 113