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KMT2A

Basic information

Official gene symbol
lysine methyltransferase 2A
Conventional gene symbol
ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
Classification
Oncogene / Tumor suppressor gene
Official gene ID
4297(Refseq)
4297 (KEGG)
Transcript ID
NM_005933
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
11q23.3 (chr11:118307228..118392887)
Protein length
3,969

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
chr11:118343093 C T 3 / 36 p.R407* c.1219C>T COSV63281620 Tier2 1 / 175
chr11:118344458 C T 3 / 36 p.R862* c.2584C>T COSV63282793 Tier2 2 / 175
chr11:118344930 C CT 3 / 36 p.D1020fs c.3057dupT   Tier2 1 / 175
chr11:118352465 G T 7 / 36 p.E1224* c.3670G>T   Tier2 1 / 175
chr11:118352585 C T 7 / 36 p.R1264* c.3790C>T COSV63282990 Tier2 1 / 175
chr11:118365075 A T 17 / 36 p.K1748* c.5242A>T COSV63285844 Tier2 1 / 175
chr11:118369217 C T 22 / 36 p.R1976* c.5926C>T COSV63294815 Tier2 1 / 175
chr11:118370570 TTAGGAATTCTAAA T 24 / 36 p.G2032fs c.6093_6105delAGGAATTCTAAAT   Tier2 1 / 175
chr11:118372512 C T 26 / 36 p.R2146* c.6436C>T COSV63292572 Tier2 1 / 175
chr11:118372554 C T 26 / 36 p.R2160* c.6478C>T COSV100627683 Tier2 1 / 175
chr11:118373178 C T 27 / 36 p.R2188* c.6562C>T COSV63281417 Tier2 2 / 175
chr11:118373604 A T 27 / 36 p.K2330* c.6988A>T   Tier2 1 / 175
chr11:118373678 CT C 27 / 36 p.S2355fs c.7063delT   Tier2 1 / 175
chr11:118374380 T A 27 / 36 p.Y2588* c.7764T>A COSV100628338 Tier2 1 / 175
chr11:118374702 C T 27 / 36 p.R2696* c.8086C>T COSV63284064 Tier2 1 / 175