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CDKN2A

Basic information

Official gene symbol
cyclin dependent kinase inhibitor 2A
Conventional gene symbol
ARF, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16
Classification
Tumor suppressor gene
Official gene ID
1029(Refseq)
1029 (KEGG)
Transcript ID
NM_000077
Functional classification
Cell cycle
Signaling pathway
Cell cycle
Chromosomal location
9p21.3 (chr9:21968228..21974826, complement)
Protein length
156

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
chr9:21974677 C A 1 / 3 p.Q50H c.150G>T COSV58692109 Tier2 1 / 159
chr9:21974679 G A 1 / 3 p.Q50* c.148C>T COSV58683786 Tier1 1 / 159
chr9:21974684 G A 1 / 3 p.P48L c.143C>T COSV58683273 Tier1 2 / 159
chr9:21974695 G C 1 / 3 p.Y44* c.132C>G COSV58696346 Tier2 2 / 159
chr9:21974730 C A 1 / 3 p.E33* c.97G>T COSV58682729 Tier2 2 / 159
chr9:21974732 A G 1 / 3 p.L32P c.95T>C COSV58685103 Tier1 1 / 159
chr9:21974735 AGCGCCCGCACCTCCTCTACCCGACCCCGGGCC A 1 / 3 p.R22fs c.60_91delGGCCCGGGGTCGGGTAGAGGAGGTGCGGGCGC   Tier2 1 / 159
chr9:21974759 CCCCGGGCCGCGGCCGTGGCCAG C 1 / 3 p.L16fs c.46_67delCTGGCCACGGCCGCGGCCCGGG   Tier2 1 / 159
chr9:21974776 GGCCA G 1 / 3 p.L16fs c.47_50delTGGC COSV58683946 Tier2 1 / 159
chr9:21974782 C T 1 / 3 p.W15* c.45G>A COSV58683123 Tier2 1 / 159
chr9:21974787 C CT 1 / 3 p.D14fs c.39_40insA   Tier2 1 / 159
chr9:21974792 G T 1 / 3 p.S12* c.35C>A COSV58689693 Tier2 1 / 159
chr9:21974799 C A 1 / 3 p.E10* c.28G>T COSV58705987 Tier2 3 / 159
chr9:21970971 G T 2 / 3 p.Y129* c.387C>A COSV58684005 Tier2 2 / 159
chr9:21971000 C A 2 / 3 p.E120* c.358G>T COSV58683444 Tier2 3 / 159
chr9:21971005 GC G 2 / 3 p.A118fs c.352delG   Tier2 1 / 159
chr9:21971017 G A 2 / 3 p.P114L c.341C>T COSV58683051 Tier1 2 / 159
chr9:21971028 C T 2 / 3 p.W110* c.330G>A COSV58682827 Tier2 7 / 159
chr9:21971029 C T 2 / 3 p.W110* c.329G>A COSV58682976 Tier2 4 / 159
chr9:21971036 C G 2 / 3 p.D108H c.322G>C COSV58690035 Tier2 2 / 159
chr9:21971036 C A 2 / 3 p.D108Y c.322G>T COSV58682998 Tier2 1 / 159
chr9:21971057 C A 2 / 3 p.G101W c.301G>T COSV58692144 Tier1 1 / 159
chr9:21971068 A C 2 / 3 p.L97R c.290T>G COSV58684740 Tier1 1 / 159
chr9:21971069 G GCACC 2 / 3 p.L97fs c.285_288dupGGTG   Tier2 1 / 159
chr9:21971096 C A 2 / 3 p.E88* c.262G>T COSV58683071 Tier2 2 / 159
chr9:21971099 G A 2 / 3 p.R87W c.259C>T COSV58718452 Tier1 2 / 159
chr9:21971108 C A 2 / 3 p.D84Y c.250G>T COSV58683210 Tier1 1 / 159
chr9:21971108 C T 2 / 3 p.D84N c.250G>A COSV58683289 Tier2 1 / 159
chr9:21971110 T C 2 / 3 p.H83R c.248A>G COSV58689512 Tier2 2 / 159
chr9:21971111 G A 2 / 3 p.H83Y c.247C>T COSV58682852 Tier1 6 / 159
chr9:21971111 G C 2 / 3 p.H83D c.247C>G COSV58690009 Tier2 1 / 159
chr9:21971118 TC T 2 / 3 p.R80fs c.239delG COSV58729341 Tier2 1 / 159
chr9:21971120 G A 2 / 3 p.R80* c.238C>T COSV58682746 Tier2 16 / 159
chr9:21971123 TGA T 2 / 3 p.L78fs c.233_234delTC COSV58687173 Tier2 1 / 159
chr9:21971127 AGTGG A 2 / 3 p.A76fs c.227_230delCCAC   Tier2 1 / 159
chr9:21971138 C T 2 / 3 p.D74N c.220G>A COSV58688841 Tier1 2 / 159
chr9:21971139 GGC G 2 / 3 p.A73fs c.217_218delGC   Tier2 1 / 159
chr9:21971142 G T 2 / 3 p.C72* c.216C>A COSV58683179 Tier2 1 / 159
chr9:21971150 GC G 2 / 3 p.E69fs c.207delG   Tier2 1 / 159
chr9:21971150 GCT G 2 / 3 p.E69fs c.206_207delAG   Tier2 1 / 159
chr9:21971155 GC G 2 / 3 p.A68fs c.202delG   Tier2 1 / 159
chr9:21971174 GCTCCGCCACT G 2 / 3 p.V59fs c.174_183delAGTGGCGGAG   Tier2 1 / 159
chr9:21971177 C A 2 / 3 p.E61* c.181G>T COSV58683250 Tier2 4 / 159
chr9:21971179 GCCACT G 2 / 3 p.V59fs c.174_178delAGTGG COSV58693461 Tier2 1 / 159
chr9:21971186 G A 2 / 3 p.R58* c.172C>T COSV58682666 Tier2 14 / 159
chr9:21971197 A ATCAT 2 / 3 p.M54fs c.157_160dupATGA   Tier2 1 / 159
chr9:21971198 T TCA 2 / 3 p.M54fs c.158_159dupTG   Tier2 1 / 159