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SMARCA4

Basic information

Official gene symbol
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Conventional gene symbol
BAF190, BAF190A, BRG1, CSS4, MRD16, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b
Classification
Tumor suppressor gene
Official gene ID
6597(Refseq)
6597 (KEGG)
Transcript ID
NM_001128844
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
19p13.2 (chr19:11094828..11172492)
Protein length
1,647

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
chr19:11098473 C T 7 / 36 p.Q331* c.991C>T COSV60790052 Tier2 1 / 207
chr19:11098485 C T 7 / 36 p.Q335* c.1003C>T   Tier2 1 / 207
chr19:11101958 C T 9 / 36 p.Q460* c.1378C>T COSV60797130 Tier2 1 / 207
chr19:11105546 G T 10 / 36 p.E488* c.1462G>T   Tier2 1 / 207
chr19:11105618 G T 10 / 36 p.E512* c.1534G>T COSV60805053 Tier2 1 / 207
chr19:11105651 G T 10 / 36 p.E523* c.1567G>T COSV60801645 Tier2 1 / 207
chr19:11107030 G T 11 / 36 p.E579* c.1735G>T   Tier2 1 / 207
chr19:11114057 C G 14 / 36 p.S662* c.1985C>G   Tier2 1 / 207
chr19:11118581 G T 15 / 36 p.E669* c.2005G>T COSV60785914 Tier2 1 / 207
chr19:11132513 C T 20 / 36 p.T910M c.2729C>T COSV60785486 Tier2 4 / 207
chr19:11132527 C T 20 / 36 p.Q915* c.2743C>T COSV60810758 Tier2 1 / 207
chr19:11134217 CA C 21 / 36 p.I962fs c.2884delA   Tier2 1 / 207
chr19:11134269 C T 21 / 36 p.R979* c.2935C>T COSV60800521 Tier2 1 / 207
chr19:11135046 C T 22 / 36 p.R1005* c.3013C>T COSV60786701 Tier2 1 / 207
chr19:11135092 ATGGCTCCGAGAAGGACAAGAAGG A 22 / 36 p.S1022fs c.3063_3081+4delCTCCGAGAAGGACAAGAAGGTGG   Tier2 1 / 207
chr19:11145653 G T 30 / 36 p.E1339* c.4015G>T COSV60788531 Tier2 1 / 207
chr19:11152028 C T 31 / 36 p.Q1406* c.4216C>T   Tier2 1 / 207
chr19:11152162 ACT A 31 / 36 p.S1452fs c.4354_4355delTC   Tier2 1 / 207
chr19:11169530 C T 33 / 36 p.Q1534* c.4600C>T   Tier2 1 / 207
chr19:11172467 C CA 36 / 36 p.G1641fs c.4920dupA   Tier2 1 / 207