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SOX9

Basic information

Official gene symbol
SRY-box transcription factor 9
Conventional gene symbol
CMD1, CMPD1, SRA1, SRXX2, SRXY10
Classification
Oncogene / Tumor suppressor gene
Official gene ID
6662(Refseq)
6662 (KEGG)
Transcript ID
NM_000346
Functional classification
Differentiation
Signaling pathway
WNT
Chromosomal location
17q24.3 (chr17:70117533..70120528)
Protein length
509

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
chr17:70117599 AGC A 1 / 3 p.S23fs c.68_69delGC   Tier2 1 / 117
chr17:70117614 G T 1 / 3 p.E28* c.82G>T COSV55422908 Tier2 1 / 117
chr17:70117635 T TG 1 / 3 p.C35fs c.104dupG   Tier2 1 / 117
chr17:70117738 T TA 1 / 3 p.F69fs c.206_207insA   Tier2 1 / 117
chr17:70117807 C CGG 1 / 3 p.V93fs c.276_277dupGG   Tier2 1 / 117
chr17:70117835 C CAA 1 / 3 p.P103fs c.304_305dupAA   Tier2 1 / 117
chr17:70117848 A T 1 / 3 p.K106* c.316A>T COSV55430122 Tier2 1 / 117
chr17:70117853 GCCCATGAACGCCTTCAT G 1 / 3 p.P108fs c.322_338delCCCATGAACGCCTTCAT   Tier2 1 / 117
chr17:70117911 T TC 1 / 3 p.Y127fs c.379_380insC   Tier2 1 / 117
chr17:70117944 A ACG 1 / 3 p.L139fs c.414_415dupGC   Tier2 1 / 117
chr17:70117960 G A 1 / 3 p.W143* c.428G>A COSV55423111 Tier2 1 / 117
chr17:70118959 G GC 2 / 3 p.R178fs c.532dupC   Tier2 1 / 117
chr17:70118970 C A 2 / 3 p.S181* c.542C>A   Tier2 1 / 117
chr17:70118996 G T 2 / 3 p.E190* c.568G>T COSV55430562 Tier2 1 / 117
chr17:70118999 G T 2 / 3 p.E191* c.571G>T   Tier2 1 / 117
chr17:70119011 C T 2 / 3 p.Q195* c.583C>T   Tier2 1 / 117
chr17:70119072 CCTCCG C 2 / 3 p.S216fs c.645_649delCTCCG   Tier2 1 / 117
chr17:70119696 GCCCACCGACCCCA G 3 / 3 p.T236fs c.705_717delGACCCCACCCACC   Tier2 1 / 117
chr17:70119699 CACCGACCCCACCCACCACCCCCAAA C 3 / 3 p.P237fs c.708_732delCCCACCCACCACCCCCAAAACCGAC   Tier2 1 / 117
chr17:70119740 G GGC 3 / 3 p.K249fs c.743_744dupGC COSV55424964 Tier2 1 / 117
chr17:70119746 G GCTGAC 3 / 3 p.K253fs c.753_757dupCCTGA   Tier2 1 / 117
chr17:70119752 C CTG 3 / 3 p.K253fs c.755_756dupTG   Tier2 1 / 117
chr17:70119758 C T 3 / 3 p.R254* c.760C>T COSV55424668 Tier2 2 / 117
chr17:70119758 CGA C 3 / 3 p.E255fs c.764_765delAG COSV55424287 Tier2 1 / 117
chr17:70119761 G T 3 / 3 p.E255* c.763G>T   Tier2 1 / 117
chr17:70119765 G GGC 3 / 3 p.P258fs c.770_771dupGC COSV55424143 Tier2 1 / 117
chr17:70119769 C CG 3 / 3 p.P258fs c.771_772insG   Tier2 1 / 117
chr17:70119779 G T 3 / 3 p.E261* c.781G>T COSV55427494 Tier2 1 / 117
chr17:70119791 C T 3 / 3 p.Q265* c.793C>T COSV55423080 Tier2 3 / 117
chr17:70119814 C CGT 3 / 3 p.D274fs c.818_819dupTG COSV55422681 Tier2 1 / 117
chr17:70119820 CA C 3 / 3 p.I275fs c.823delA   Tier2 1 / 117
chr17:70119829 G GC 3 / 3 p.L278fs c.832dupC   Tier2 1 / 117
chr17:70119831 T TCCGC 3 / 3 p.S279fs c.833_834insCCGC   Tier2 1 / 117
chr17:70119842 G GTC 3 / 3 p.I283fs c.845_846dupTC   Tier2 1 / 117
chr17:70119851 A AACATCGAG 3 / 3 p.F289fs c.856_863dupATCGAGAC   Tier2 1 / 117
chr17:70119853 CAT C 3 / 3 p.I286fs c.856_857delAT   Tier2 1 / 117
chr17:70119855 TC T 3 / 3 p.I286fs c.858delC   Tier2 1 / 117
chr17:70119855 T TC 3 / 3 p.E287fs c.858dupC   Tier2 1 / 117
chr17:70119856 C CGA 3 / 3 p.T288fs c.861_862dupGA   Tier2 1 / 117
chr17:70119857 G T 3 / 3 p.E287* c.859G>T COSV55422733 Tier2 1 / 117
chr17:70119889 C A 3 / 3 p.Y297* c.891C>A COSV55430013 Tier2 1 / 117
chr17:70119928 C CG 3 / 3 p.Q312fs c.932dupG   Tier2 1 / 117
chr17:70119935 G GTC 3 / 3 p.T314fs c.938_939dupTC   Tier2 1 / 117
chr17:70119941 T TA 3 / 3 p.Y315fs c.944dupA   Tier2 1 / 117
chr17:70119952 C CT 3 / 3 p.Y319fs c.955dupT   Tier2 1 / 117
chr17:70119955 C A 3 / 3 p.Y319* c.957C>A   Tier2 1 / 117
chr17:70120016 C T 3 / 3 p.Q340* c.1018C>T COSV55426963 Tier2 1 / 117
chr17:70120067 C T 3 / 3 p.Q357* c.1069C>T COSV55429202(SNP) Tier2 1 / 117
chr17:70120124 C T 3 / 3 p.Q376* c.1126C>T   Tier2 1 / 117
chr17:70120130 C T 3 / 3 p.Q378* c.1132C>T   Tier2 1 / 117
chr17:70120282 C G 3 / 3 p.Y428* c.1284C>G   Tier2 1 / 117
chr17:70120294 C A 3 / 3 p.Y432* c.1296C>A   Tier2 1 / 117
chr17:70120311 C G 3 / 3 p.S438* c.1313C>G   Tier2 1 / 117
chr17:70120370 C T 3 / 3 p.Q458* c.1372C>T COSV55428140 Tier2 1 / 117
chr17:70120381 CCT C 3 / 3 p.Y463fs c.1386_1387delCT   Tier2 1 / 117
chr17:70120430 ACC A 3 / 3 p.P479fs c.1436_1437delCC   Tier2 1 / 117
chr17:70120446 CCT C 3 / 3 p.S484fs c.1451_1452delCT COSV55423201 Tier2 1 / 117
chr17:70120460 TC T 3 / 3 p.I489fs c.1464delC   Tier2 1 / 117