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ARID1A

Basic information

Official gene symbol
AT-rich interaction domain 1A
Conventional gene symbol
B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1
Classification
Tumor suppressor gene
Official gene ID
8289(Refseq)
8289 (KEGG)
Transcript ID
NM_006015
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
1p36.11 (chr1:27022895..27107247)
Protein length
2,285

Chromosome ideogram

Pathway map

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
chr1:27023707 CGGGGCCATGGGGGGAGGCG C 1 / 20 p.G272fs c.815_833delGGGCCATGGGGGGAGGCGG   Tier2 1 / 277
chr1:27023747 G T 1 / 20 p.G285* c.853G>T   Tier2 1 / 277
chr1:27023796 C A 1 / 20 p.S301* c.902C>A   Tier2 1 / 277
chr1:27023815 CTACCAGGGCT C 1 / 20 p.Y308fs c.922_931delTACCAGGGCT   Tier2 1 / 277
chr1:27023830 C CA 1 / 20 p.G313fs c.936_937insA   Tier2 1 / 277
chr1:27023842 CA C 1 / 20 p.S317fs c.949delA   Tier2 1 / 277
chr1:27023848 CGGGCCCCAGGACGG C 1 / 20 p.P320fs c.959_972delCCCAGGACGGGGGC   Tier2 1 / 277
chr1:27023866 CG C 1 / 20 p.A325fs c.973delG   Tier2 1 / 277
chr1:27056248 ATGGG A 2 / 20 p.G416fs c.1246_1249delGGGT   Tier2 1 / 277
chr1:27056273 GTC G 2 / 20 p.S424fs c.1270_1271delTC   Tier2 1 / 277
chr1:27056307 C T 2 / 20 p.Q435* c.1303C>T COSV61370633 Tier2 1 / 277
chr1:27056319 C T 2 / 20 p.Q439* c.1315C>T COSV61387067 Tier2 1 / 277
chr1:27056336 CCT C 2 / 20 p.S446fs c.1337_1338delCT   Tier2 1 / 277
chr1:27056349 C T 2 / 20 p.Q449* c.1345C>T COSV61388110 Tier2 1 / 277
chr1:27057730 C T 3 / 20 p.Q480* c.1438C>T COSV61387510 Tier2 1 / 277
chr1:27057788 C A 3 / 20 p.S499* c.1496C>A   Tier2 1 / 277
chr1:27057799 C T 3 / 20 p.Q503* c.1507C>T   Tier2 1 / 277
chr1:27058075 C T 3 / 20 p.Q595* c.1783C>T COSV61374777 Tier2 3 / 277
chr1:27059204 C A 4 / 20 p.S614* c.1841C>A COSV61391065 Tier2 1 / 277
chr1:27087392 GCT G 5 / 20 p.L657fs c.1969_1970delCT COSV61375040 Tier2 1 / 277
chr1:27087437 G T 5 / 20 p.G671* c.2011G>T COSV104627701 Tier2 1 / 277
chr1:27087503 C T 5 / 20 p.R693* c.2077C>T COSV61375361 Tier2 5 / 277
chr1:27087565 ACT A 5 / 20 p.S715fs c.2143_2144delTC   Tier2 1 / 277
chr1:27087884 TGCCACCTCGGCCACCCAGTG T 6 / 20 p.P726fs c.2176_2195delCCTCGGCCACCCAGTGGCCA   Tier2 1 / 277
chr1:27087889 CCTCGGCCA C 6 / 20 p.R727fs c.2178_2185delTCGGCCAC   Tier2 1 / 277
chr1:27087955 C T 6 / 20 p.Q748* c.2242C>T COSV100253850 Tier2 1 / 277
chr1:27087961 C T 6 / 20 p.R750* c.2248C>T COSV61371935 Tier2 2 / 277
chr1:27088726 G T 7 / 20 p.G779* c.2335G>T   Tier2 2 / 277
chr1:27088787 A AT 7 / 20 p.Q799fs c.2396_2397insT   Tier2 1 / 277
chr1:27089574 C T 8 / 20 p.Q844* c.2530C>T COSV61375698 Tier2 1 / 277
chr1:27089632 T TAA 8 / 20 p.M863fs c.2588_2589insAA   Tier2 1 / 277
chr1:27089730 G T 8 / 20 p.E896* c.2686G>T COSV61371402 Tier2 1 / 277
chr1:27089744 CAT C 8 / 20 p.M901fs c.2701_2702delAT   Tier2 1 / 277
chr1:27089755 C CT 8 / 20 p.A905fs c.2712dupT   Tier2 1 / 277
chr1:27089769 C T 8 / 20 p.Q909* c.2725C>T   Tier2 1 / 277
chr1:27092827 AT A 9 / 20 p.M950fs c.2849delT   Tier2 1 / 277
chr1:27092952 GGCAGCCA G 10 / 20 p.A963fs c.2886_2892delAGCCAGC   Tier2 1 / 277
chr1:27092965 G T 10 / 20 p.E966* c.2896G>T COSV61375398 Tier2 1 / 277
chr1:27094360 G A 11 / 20 p.W1023* c.3068G>A COSV61372370 Tier2 1 / 277
chr1:27094406 G GA 11 / 20 p.T1039fs c.3115dupA   Tier2 1 / 277
chr1:27097634 G T 12 / 20 p.E1075* c.3223G>T   Tier2 2 / 277
chr1:27097699 TATCCA T 12 / 20 p.I1097fs c.3289_3293delATCCA   Tier2 1 / 277
chr1:27097790 C T 12 / 20 p.Q1127* c.3379C>T COSV61385668 Tier2 1 / 277
chr1:27097800 TC T 12 / 20 p.Q1131fs c.3391delC COSV61380004 Tier2 1 / 277
chr1:27098997 CA C 13 / 20 p.G1139fs c.3414delA   Tier2 1 / 277
chr1:27099314 C A 14 / 20 p.S1184* c.3551C>A   Tier2 1 / 277
chr1:27099859 GT G 15 / 20 p.S1247fs c.3739delT   Tier2 1 / 277
chr1:27099896 C CCCTACAGTCG 15 / 20 p.A1263fs c.3776_3785dupCCTACAGTCG   Tier2 1 / 277
chr1:27099901 C G 15 / 20 p.Y1260* c.3780C>G   Tier2 1 / 277
chr1:27099947 C T 15 / 20 p.R1276* c.3826C>T COSV61370466 Tier2 5 / 277
chr1:27100093 G T 16 / 20 p.E1297* c.3889G>T   Tier2 1 / 277
chr1:27100201 C T 16 / 20 p.Q1333* c.3997C>T   Tier2 1 / 277
chr1:27100204 C T 16 / 20 p.Q1334* c.4000C>T   Tier2 1 / 277
chr1:27100207 C T 16 / 20 p.R1335* c.4003C>T COSV61371872 Tier2 3 / 277
chr1:27100375 C T 17 / 20 p.Q1363* c.4087C>T COSV61381868 Tier2 1 / 277
chr1:27100384 C T 17 / 20 p.Q1366* c.4096C>T COSV61375213 Tier2 1 / 277
chr1:27100884 AC A 18 / 20 p.Y1389fs c.4167delC   Tier2 1 / 277
chr1:27100928 C T 18 / 20 p.Q1404* c.4210C>T COSV61379033 Tier2 1 / 277
chr1:27101054 C T 18 / 20 p.R1446* c.4336C>T COSV61370903 Tier2 2 / 277
chr1:27101099 C T 18 / 20 p.R1461* c.4381C>T COSV61376088 Tier2 2 / 277
chr1:27101188 G GA 18 / 20 p.V1491fs c.4470_4471insA   Tier2 1 / 277
chr1:27101195 C T 18 / 20 p.Q1493* c.4477C>T COSV61371210 Tier2 1 / 277
chr1:27101212 G A 18 / 20 p.W1498* c.4494G>A COSV61375153 Tier2 1 / 277
chr1:27101250 G GTC 18 / 20 p.R1511fs c.4532_4533insTC   Tier2 1 / 277
chr1:27101262 GC G 18 / 20 p.S1516fs c.4545delC   Tier2 1 / 277
chr1:27101273 C T 18 / 20 p.Q1519* c.4555C>T COSV61386977 Tier2 1 / 277
chr1:27101300 C T 18 / 20 p.R1528* c.4582C>T COSV61372105 Tier2 1 / 277
chr1:27101309 G T 18 / 20 p.E1531* c.4591G>T COSV61379364 Tier2 1 / 277
chr1:27101468 C T 18 / 20 p.Q1584* c.4750C>T COSV61370728 Tier2 1 / 277
chr1:27101525 A T 18 / 20 p.K1603* c.4807A>T COSV61377442 Tier2 1 / 277
chr1:27101558 C T 18 / 20 p.Q1614* c.4840C>T COSV61380458 Tier2 2 / 277
chr1:27101692 GCTCA G 18 / 20 p.L1659fs c.4976_4979delTCAC   Tier2 1 / 277
chr1:27102083 G A 19 / 20 p.W1670* c.5009G>A COSV61373865 Tier2 1 / 277
chr1:27102131 G A 19 / 20 p.W1686* c.5057G>A COSV61373123 Tier2 1 / 277
chr1:27102132 G A 19 / 20 p.W1686* c.5058G>A COSV61376283 Tier2 1 / 277
chr1:27105519 A AGG 20 / 20 p.L1712fs c.5132_5133dupGG   Tier2 1 / 277
chr1:27105550 C T 20 / 20 p.R1721* c.5161C>T COSV61371260 Tier2 2 / 277
chr1:27105553 C T 20 / 20 p.R1722* c.5164C>T COSV61371609 Tier2 3 / 277
chr1:27105586 G T 20 / 20 p.E1733* c.5197G>T COSV61373497 Tier2 1 / 277
chr1:27105588 GTA G 20 / 20 p.Y1734fs c.5201_5202delAT   Tier2 1 / 277
chr1:27105601 G GACCCAGGACAGAGA 20 / 20 p.L1744fs c.5215_5228dupCCAGGACAGAGAAC   Tier2 1 / 277
chr1:27105638 TC T 20 / 20 p.F1750fs c.5250delC COSV61383554 Tier2 1 / 277
chr1:27105647 TG T 20 / 20 p.S1754fs c.5259delG   Tier2 1 / 277
chr1:27105667 G T 20 / 20 p.E1760* c.5278G>T COSV61386958 Tier2 1 / 277
chr1:27105680 AAG A 20 / 20 p.E1765fs c.5293_5294delGA   Tier2 1 / 277
chr1:27105688 G T 20 / 20 p.E1767* c.5299G>T COSV61376778 Tier2 2 / 277
chr1:27105692 TTC T 20 / 20 p.L1769fs c.5305_5306delCT COSV61372044 Tier2 1 / 277
chr1:27105736 G T 20 / 20 p.E1783* c.5347G>T COSV61378583 Tier2 1 / 277
chr1:27105806 TC T 20 / 20 p.S1807fs c.5418delC   Tier2 1 / 277
chr1:27105807 CAGTA C 20 / 20 p.K1808fs c.5422_5425delAAGT   Tier2 1 / 277
chr1:27105881 TTGGG T 20 / 20 p.G1832fs c.5493_5496delTGGG   Tier2 1 / 277
chr1:27105892 C T 20 / 20 p.Q1835* c.5503C>T COSV61376714 Tier2 1 / 277
chr1:27105941 CCA C 20 / 20 p.T1852fs c.5554_5555delAC   Tier2 1 / 277
chr1:27105955 C T 20 / 20 p.Q1856* c.5566C>T COSV61370625 Tier2 1 / 277
chr1:27105967 G T 20 / 20 p.E1860* c.5578G>T COSV61386185 Tier2 1 / 277
chr1:27106128 CAT C 20 / 20 p.M1914fs c.5740_5741delAT COSV61383145 Tier2 1 / 277
chr1:27106140 TCGGTC T 20 / 20 p.R1918fs c.5752_5756delCGGTC   Tier2 1 / 277
chr1:27106177 TC T 20 / 20 p.S1930fs c.5789delC   Tier2 1 / 277
chr1:27106177 TCAGAGGCCATCAAGGAGAG T 20 / 20 p.E1931fs c.5792_5810delAGGCCATCAAGGAGAGCAG   Tier2 1 / 277
chr1:27106237 CGGAA C 20 / 20 p.R1950fs c.5849_5852delGGAA   Tier2 1 / 277
chr1:27106264 CCCCACAGTAAGGATGAG C 20 / 20 p.P1959fs c.5876_5892delCCCACAGTAAGGATGAG   Tier2 1 / 277
chr1:27106324 A T 20 / 20 p.K1979* c.5935A>T COSV100251324 Tier2 1 / 277
chr1:27106335 CTG C 20 / 20 p.S1985fs c.5952_5953delGT COSV61370842 Tier2 1 / 277
chr1:27106350 CA C 20 / 20 p.I1988fs c.5962delA   Tier2 1 / 277
chr1:27106354 C T 20 / 20 p.R1989* c.5965C>T COSV61370535 Tier2 10 / 277
chr1:27106354 CG C 20 / 20 p.R1989fs c.5966delG   Tier2 1 / 277
chr1:27106387 G T 20 / 20 p.E2000* c.5998G>T COSV104627712 Tier2 1 / 277
chr1:27106433 TC T 20 / 20 p.L2016fs c.6046delC COSV61387890 Tier2 2 / 277
chr1:27106456 G GA 20 / 20 p.R2024fs c.6069dupA   Tier2 1 / 277
chr1:27106483 G T 20 / 20 p.E2032* c.6094G>T COSV61375541 Tier2 1 / 277
chr1:27106536 G A 20 / 20 p.W2049* c.6147G>A   Tier2 1 / 277
chr1:27106549 G T 20 / 20 p.E2054* c.6160G>T COSV61378100 Tier2 1 / 277
chr1:27106597 C T 20 / 20 p.Q2070* c.6208C>T   Tier2 1 / 277
chr1:27106638 TGTCCTGGA T 20 / 20 p.V2084fs c.6250_6257delGTCCTGGA   Tier2 1 / 277
chr1:27106652 TC T 20 / 20 p.L2089fs c.6265delC   Tier2 1 / 277
chr1:27106732 CAG C 20 / 20 p.R2116fs c.6347_6348delGA COSV61372366 Tier2 2 / 277
chr1:27106732 C T 20 / 20 p.Q2115* c.6343C>T COSV61372565 Tier2 1 / 277
chr1:27106827 G GT 20 / 20 p.L2147fs c.6440dupT   Tier2 1 / 277
chr1:27106861 C T 20 / 20 p.R2158* c.6472C>T COSV61370611 Tier2 2 / 277
chr1:27106887 GGCTGTGGTACT G 20 / 20 p.V2168fs c.6503_6513delTGGTACTGCTG   Tier2 1 / 277
chr1:27106915 CAG C 20 / 20 p.Q2176fs c.6527_6528delAG COSV61371745 Tier2 1 / 277
chr1:27106946 CA C 20 / 20 p.V2187fs c.6558delA   Tier2 1 / 277
chr1:27107012 TC T 20 / 20 p.Q2209fs c.6625delC COSV61372280 Tier2 1 / 277
chr1:27107017 C T 20 / 20 p.Q2210* c.6628C>T COSV100252252 Tier2 2 / 277
chr1:27107087 GGGCT G 20 / 20 p.A2234fs c.6700_6703delGCTG COSV61372057 Tier2 1 / 277
chr1:27107091 TGCCC T 20 / 20 p.A2237fs c.6705_6708delCCGC COSV61376555 Tier2 1 / 277
chr1:27107093 CCCGCG C 20 / 20 p.R2236fs c.6706_6710delCGCGC   Tier2 1 / 277
chr1:27107094 CCG C 20 / 20 p.L2238fs c.6711_6712delGC COSV61371411 Tier2 2 / 277
chr1:27107135 CAG C 20 / 20 p.E2250fs c.6749_6750delAG COSV61380103 Tier2 2 / 277
chr1:27107152 G T 20 / 20 p.E2255* c.6763G>T COSV61386272 Tier2 1 / 277
chr1:27107223 ACT A 20 / 20 p.L2279fs c.6835_6836delCT   Tier2 1 / 277