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MITF

Basic information

Official gene symbol
melanocyte inducing transcription factor
Conventional gene symbol
CMM8, COMMAD, MI, WS2, WS2A, bHLHe32
Classification
Oncogene / Tumor suppressor gene
Official gene ID
4286(Refseq)
4286 (KEGG)
Transcript ID
NM_198159
Functional classification
Transcriptional regulation
Signaling pathway
Transcriptional regulation
Chromosomal location
3p13 (chr3:69788749..70014399)
Protein length
520

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
chr3:70005611 C T 8 / 10 p.R315* c.943C>T COSV58832470 Tier2 1 / 64
chr3:70008521 C T 9 / 10 p.R371* c.1111C>T COSV58833666 Tier2 2 / 64
chr3:70014064 GATTTGGTGAATCGGATCATCAAGCAA G 10 / 10 p.D410fs c.1229_1254delATTTGGTGAATCGGATCATCAAGCAA   Tier2 1 / 64
chr3:70014091 G T 10 / 10 p.E419* c.1255G>T   Tier2 1 / 64