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MED12

Basic information

Official gene symbol
mediator complex subunit 12
Conventional gene symbol
ARC240, CAGH45, FGS1, HOPA, Kto, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230
Classification
Oncogene / Tumor suppressor gene
Official gene ID
9968(Refseq)
9968 (KEGG)
Transcript ID
NM_005120
Functional classification
Transcriptional regulation
Signaling pathway
Transcriptional regulation
Chromosomal location
Xq13.1 (chrX:70338605..70362068)
Protein length
2,177

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
chrX:70338612 C T 1 / 45 p.A3V c.8C>T   Tier2 1 / 152
chrX:70338671 G T 1 / 45 p.D23Y c.67G>T COSV61334558 Tier2 1 / 152
chrX:70338683 C G 1 / 45 p.Q27E c.79C>G COSV61336067 Tier2 1 / 152
chrX:70338699 A G 1 / 45 p.K32R c.95A>G   Tier2 1 / 152
chrX:70338701 G A 1 / 45 p.E33K c.97G>A COSV61329448 Tier2 1 / 152
chrX:70338702 A G 1 / 45 p.E33G c.98A>G COSV61333771 Tier2 2 / 152
chrX:70338703 G T 1 / 45 p.E33D c.99G>T COSV61336158 Tier2 1 / 152
chrX:70339230 T C 2 / 45 p.L36P c.107T>C COSV61331528 Tier2 2 / 152
chrX:70339230 T A 2 / 45 p.L36Q c.107T>A   Tier2 1 / 152
chrX:70339253 G A 2 / 45 p.G44S c.130G>A COSV61329567 Tier2 1 / 152
chrX:70339254 G T 2 / 45 p.G44V c.131G>T COSV61329428 Tier2 1 / 152
chrX:70339269 C A 2 / 45 p.P49H c.146C>A COSV61349777 Tier2 1 / 152
chrX:70339286 G C 2 / 45 p.E55Q c.163G>C   Tier2 1 / 152
chrX:70339328 G A 2 / 45   c.204+1G>A COSV61359729 Tier2 2 / 152
chrX:70342699 T A 10 / 45 p.L487* c.1460T>A   Tier2 1 / 152
chrX:70344077 C T 13 / 45 p.R605* c.1813C>T COSV61340440 Tier2 1 / 152
chrX:70348216 G T 23 / 45 p.G1094* c.3280G>T   Tier2 1 / 152
chrX:70349240 G T 26 / 45 p.G1218* c.3652G>T   Tier2 1 / 152
chrX:70349580 G T 27 / 45 p.E1248* c.3742G>T   Tier2 1 / 152
chrX:70352768 G T 32 / 45 p.E1497* c.4489G>T COSV61349986 Tier2 1 / 152
chrX:70355014 C T 36 / 45 p.R1646* c.4936C>T COSV61337116 Tier2 1 / 152
chrX:70357753 C T 41 / 45 p.Q2002* c.6004C>T   Tier2 1 / 152
chrX:70357768 G T 41 / 45 p.G2007* c.6019G>T   Tier2 1 / 152
chrX:70360666 C T 42 / 45 p.Q2076* c.6226C>T COSV61355709 Tier2 1 / 152
chrX:70361107 C T 43 / 45 p.Q2099* c.6295C>T   Tier2 1 / 152