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KMT2C

Basic information

Official gene symbol
lysine methyltransferase 2C
Conventional gene symbol
HALR, KLEFS2, MLL3
Classification
Tumor suppressor gene
Official gene ID
58508(Refseq)
58508 (KEGG)
Transcript ID
NM_170606
Functional classification
Epigenetic regulation
Signaling pathway
Epigenetic modification
Chromosomal location
7q36.1 (chr7:151833917..152132871, complement)
Protein length
4,911

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
chr7:152055756 G A 2 / 59 p.R56* c.166C>T COSV51288537 Tier2 1 / 290
chr7:152027816 C A 3 / 59 p.E87* c.259G>T COSV51522527 Tier2 1 / 290
chr7:152012318 GT G 4 / 59 p.N165fs c.494delA   Tier2 1 / 290
chr7:152009027 G A 5 / 59 p.R199* c.595C>T COSV51443293 Tier2 1 / 290
chr7:151949720 G GT 10 / 59 p.Y460fs c.1379dupA   Tier2 1 / 290
chr7:151949084 C A 11 / 59 p.G521* c.1561G>T   Tier2 1 / 290
chr7:151949110 T TAC 11 / 59 p.Y512fs c.1533_1534dupGT   Tier2 1 / 290
chr7:151946987 AG A 13 / 59 p.D597fs c.1786delC   Tier2 1 / 290
chr7:151946992 TTC T 13 / 59 p.E594fs c.1780_1781delGA   Tier2 1 / 290
chr7:151945339 TTC T 14 / 59 p.K727fs c.2178_2179delGA   Tier2 1 / 290
chr7:151945556 C CAA 14 / 59 p.V655fs c.1962_1963insTT   Tier2 1 / 290
chr7:151932952 G A 16 / 59 p.R907* c.2719C>T COSV100065173 Tier2 1 / 290
chr7:151932961 G A 16 / 59 p.R904* c.2710C>T COSV51286458 Tier2 1 / 290
chr7:151927358 TAG T 17 / 59 p.S939fs c.2816_2817delCT   Tier2 1 / 290
chr7:151921550 GTC G 19 / 59 p.Q1042fs c.3126_3127delGA   Tier2 1 / 290
chr7:151917611 G A 23 / 59 p.R1237* c.3709C>T COSV51498512 Tier2 1 / 290
chr7:151917668 G A 23 / 59 p.Q1218* c.3652C>T COSV51274756 Tier2 1 / 290
chr7:151902278 G A 25 / 59 p.R1292* c.3874C>T COSV51503916 Tier2 1 / 290
chr7:151900096 C A 26 / 59 p.E1339* c.4015G>T   Tier2 1 / 290
chr7:151884356 C A 33 / 59 p.E1667* c.4999G>T COSV51444130 Tier2 1 / 290
chr7:151882712 C T 34 / 59 p.W1671* c.5013G>A COSV51283916 Tier2 1 / 290
chr7:151877865 TG T 36 / 59 p.P2360fs c.7079delC   Tier2 1 / 290
chr7:151877881 AGTTGGGAG A 36 / 59 p.Q2354fs c.7056_7063delCTCCCAAC   Tier2 1 / 290
chr7:151878005 CAA C 36 / 59 p.F2313fs c.6938_6939delTT COSV51489526 Tier2 1 / 290
chr7:151878871 G C 36 / 59 p.S2025* c.6074C>G COSV51463274 Tier2 1 / 290
chr7:151879574 G A 36 / 59 p.Q1791* c.5371C>T COSV51427498 Tier2 1 / 290
chr7:151877196 C A 37 / 59 p.E2389* c.7165G>T   Tier2 1 / 290
chr7:151873387 G A 38 / 59 p.Q3051* c.9151C>T   Tier2 1 / 290
chr7:151873782 G C 38 / 59 p.S2919* c.8756C>G COSV51292121 Tier2 1 / 290
chr7:151873855 G A 38 / 59 p.Q2895* c.8683C>T COSV51298634 Tier2 1 / 290
chr7:151873942 C A 38 / 59 p.E2866* c.8596G>T   Tier2 1 / 290
chr7:151874286 G C 38 / 59 p.S2751* c.8252C>G   Tier2 1 / 290
chr7:151874479 C A 38 / 59 p.E2687* c.8059G>T   Tier2 1 / 290
chr7:151874713 G A 38 / 59 p.R2609* c.7825C>T COSV51419035 Tier2 1 / 290
chr7:151874856 AGTTCAATATATGC A 38 / 59 p.A2557fs c.7669_7681delGCATATATTGAAC   Tier2 1 / 290
chr7:151859413 GCTACAGCGTTTCCTTCTACCTTA G 43 / 59 p.K3743fs c.11226_11248delTAAGGTAGAAGGAAACGCTGTAG   Tier2 1 / 290
chr7:151860398 G A 43 / 59 p.Q3422* c.10264C>T   Tier2 1 / 290
chr7:151860854 G A 43 / 59 p.Q3270* c.9808C>T   Tier2 1 / 290
chr7:151855981 G T 44 / 59 p.Y3879* c.11637C>A   Tier2 1 / 290
chr7:151856070 G A 44 / 59 p.R3850* c.11548C>T COSV51426966 Tier2 1 / 290
chr7:151853329 C A 45 / 59 p.E3925* c.11773G>T   Tier2 1 / 290
chr7:151853002 C A 46 / 59 p.E3985* c.11953G>T   Tier2 2 / 290
chr7:151849994 G A 49 / 59 p.R4108* c.12322C>T COSV51471153 Tier2 1 / 290
chr7:151850031 GCTAATGTTCTA G 49 / 59 p.N4093fs c.12277-3_12284delTAGAACATTAG   Tier2 2 / 290
chr7:151848083 C A 51 / 59 p.E4226* c.12676G>T COSV51422895 Tier2 1 / 290
chr7:151845391 G A 52 / 59 p.R4541* c.13621C>T COSV51277066 Tier2 2 / 290
chr7:151845415 G A 52 / 59 p.R4533* c.13597C>T COSV51471125 Tier2 3 / 290
chr7:151845509 CAT C 52 / 59 p.M4501fs c.13501_13502delAT   Tier2 1 / 290
chr7:151845565 AAATG A 52 / 59 p.Y4483fs c.13443_13446delCATT   Tier2 1 / 290
chr7:151845580 G A 52 / 59 p.R4478* c.13432C>T COSV51419281 Tier2 1 / 290
chr7:151845957 C T 52 / 59 p.W4352* c.13055G>A   Tier2 1 / 290
chr7:151842335 G A 54 / 59 p.R4693* c.14077C>T   Tier2 2 / 290
chr7:151842344 G A 54 / 59 p.R4690* c.14068C>T COSV51439164 Tier2 1 / 290
chr7:151836804 G A 56 / 59 p.R4806* c.14416C>T COSV51308724 Tier2 1 / 290
chr7:151836835 GGT G 56 / 59 p.T4795fs c.14383_14384delAC   Tier2 1 / 290