ATM

Basic information

Official gene symbol: ATM serine/threonine kinase
Conventional gene symbol: AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
Classification: Tumor suppressor gene
Official gene ID: 472(Refseq)

472 (KEGG)
Transcript ID: NM_000051

Functional classification: Genome maintenance
Signaling pathway: TP53
Chromosomal location: 11q22.3 (chr11:108098352..108236235)
Protein length: 3,056

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
chr11:108098418	C	T	2 / 63	p.R23*	c.67C>T	COSV53733622	Tier2	2 / 237
chr11:108115600	C	T	7 / 63	p.R250*	c.748C>T	COSV53725394	Tier2	6 / 237
chr11:108115621	G	T	7 / 63	p.E257*	c.769G>T	COSV104592378	Tier2	1 / 237
chr11:108115637	T	A	7 / 63	p.L262*	c.785T>A		Tier2	1 / 237
chr11:108115681	G	T	7 / 63	p.E277*	c.829G>T	COSV53735564	Tier2	1 / 237
chr11:108115693	G	T	7 / 63	p.E281*	c.841G>T	COSV53764392	Tier2	1 / 237
chr11:108115747	G	T	7 / 63	p.E299*	c.895G>T		Tier2	1 / 237
chr11:108117852	C	T	8 / 63	p.Q355*	c.1063C>T	COSV53753546	Tier2	1 / 237
chr11:108121561	C	T	10 / 63	p.R457*	c.1369C>T	COSV53731268	Tier2	2 / 237
chr11:108124602	C	T	13 / 63	p.Q654*	c.1960C>T		Tier2	1 / 237
chr11:108124665	C	T	13 / 63	p.Q675*	c.2023C>T		Tier2	1 / 237
chr11:108124692	C	T	13 / 63	p.Q684*	c.2050C>T		Tier2	1 / 237
chr11:108124757	C	G	13 / 63	p.Y705*	c.2115C>G		Tier2	1 / 237
chr11:108127004	C	A	14 / 63	p.Y729*	c.2187C>A	COSV53770925	Tier2	1 / 237
chr11:108129749	C	T	16 / 63	p.R805*	c.2413C>T	COSV53736642	Tier2	2 / 237
chr11:108139170	C	G	18 / 63	p.S891*	c.2672C>G		Tier2	1 / 237
chr11:108139305	TA	T	18 / 63	p.E937fs	c.2808delA		Tier2	1 / 237
chr11:108139307	G	T	18 / 63	p.E937*	c.2809G>T		Tier2	1 / 237
chr11:108142105	C	T	20 / 63	p.Q1017*	c.3049C>T		Tier2	1 / 237
chr11:108159742	C	A	28 / 63	p.S1383*	c.4148C>A		Tier2	1 / 237
chr11:108163407	C	T	30 / 63	p.Q1500*	c.4498C>T	COSV53763817	Tier2	1 / 237
chr11:108165673	C	A	32 / 63	p.S1599*	c.4796C>A		Tier2	1 / 237
chr11:108165783	C	T	32 / 63	p.Q1636*	c.4906C>T	COSV53754554	Tier2	1 / 237
chr11:108170560	C	T	34 / 63	p.Q1709*	c.5125C>T		Tier2	1 / 237
chr11:108172385	C	T	35 / 63	p.R1730*	c.5188C>T	COSV53730827	Tier2	2 / 237
chr11:108173607	GAA	G	36 / 63	p.N1784fs	c.5350_5351delAA		Tier2	1 / 237
chr11:108175528	C	T	37 / 63	p.R1875*	c.5623C>T	COSV53739340	Tier2	3 / 237
chr11:108175549	C	T	37 / 63	p.R1882*	c.5644C>T		Tier2	1 / 237
chr11:108181013	TAAGAAAAG	T	39 / 63	p.K1964fs	c.5890_5897delAAGAAAAG		Tier2	1 / 237
chr11:108183157	G	T	40 / 63	p.G1980*	c.5938G>T		Tier2	1 / 237
chr11:108186742	C	T	42 / 63	p.R2034*	c.6100C>T	COSV53736160	Tier2	2 / 237
chr11:108186787	T	TA	42 / 63	p.Y2049fs	c.6146dupA		Tier2	1 / 237
chr11:108190748	G	T	44 / 63	p.E2139*	c.6415G>T	COSV53731701	Tier2	1 / 237
chr11:108192035	G	T	45 / 63	p.E2154*	c.6460G>T		Tier2	1 / 237
chr11:108192134	G	T	45 / 63	p.E2187*	c.6559G>T	COSV53764245	Tier2	1 / 237
chr11:108196055	ACT	A	46 / 63	p.S2199fs	c.6596_6597delCT		Tier2	1 / 237
chr11:108196079	G	A	46 / 63	p.W2205*	c.6615G>A		Tier2	1 / 237
chr11:108196784	G	GC	47 / 63	p.L2270fs	c.6808dupC		Tier2	1 / 237
chr11:108202672	GCAAA	G	52 / 63	p.N2567fs	c.7699_7702delAACA		Tier2	1 / 237
chr11:108203492	C	T	53 / 63	p.R2598*	c.7792C>T	COSV53725297	Tier2	1 / 237
chr11:108205708	G	T	55 / 63	p.G2675*	c.8023G>T		Tier2	1 / 237
chr11:108213957	CCT	C	57 / 63	p.Q2762fs	c.8283_8284delTC	COSV53731684	Tier2	1 / 237
chr11:108213967	C	T	57 / 63	p.R2763*	c.8287C>T	COSV53734668	Tier2	1 / 237
chr11:108216545	C	T	58 / 63	p.R2832C	c.8494C>T	COSV53732886	Tier2	3 / 237
chr11:108218075	TTGTACATATAGATCTAGG	T	59 / 63	p.H2887fs	c.8656_8671+2delGTACATATAGATCTAGGT		Tier2	1 / 237
chr11:108224504	G	T	60 / 63	p.E2895*	c.8683G>T		Tier2	1 / 237
chr11:108235893	G	T	62 / 63	p.E2979*	c.8935G>T		Tier2	1 / 237
chr11:108235935	C	T	62 / 63	p.R2993*	c.8977C>T	COSV53732836	Tier2	1 / 237
chr11:108236086	C	T	63 / 63	p.R3008C	c.9022C>T	COSV53730980	Tier1	1 / 237