Gene: ATM ENSG00000149311

Description

ataxia telangiectasia mutated [Source:HGNC Symbol;Acc:795]

Gene Synonyms

AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1

Location

Chromosome 11: 108,093,211-108,239,829 forward strand.

GRCh37:CM000673.1

About this gene

This gene has 25 transcripts (splice variants) and is associated with 130 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000278616.4	ATM-201	13147	3056aa	ENSP00000278616.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31669	E9PIN0 E9PRG7 M0QXY8 Q13315	NM_000051.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000452508.2	ATM-003	12954	3056aa	ENSP00000388058.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31669	E9PIN0 E9PRG7 M0QXY8 Q13315	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000527805.1	ATM-001	4841	1369aa	ENSP00000435747.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIN0 E9PRG7 M0QXY8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000531525.2	ATM-012	1513	155aa	ENSP00000434327.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YDU7	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000527891.1	ATM-026	595	154aa	ENSP00000433955.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PIQ5 E9PRG7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000601453.1	ATM-027	582	135aa	ENSP00000469471.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PRG7 M0QXY8	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000532931.1	ATM-016	481	93aa	ENSP00000432318.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PRG7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000529588.1	ATM-014	502	77aa	ENSP00000435524.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000525178.1	ATM-023	880	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000533979.1	ATM-025	705	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000532765.1	ATM-019	610	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000419286.1	ATM-009	305	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000525012.1	ATM-005	258	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000533526.1	ATM-006	234	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000524792.1	ATM-011	5912	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000530958.1	ATM-002	5718	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000533690.1	ATM-015	3354	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000533733.1	ATM-010	1731	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000527181.1	ATM-024	740	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000534625.1	ATM-018	725	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000525056.1	ATM-022	657	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000525537.1	ATM-020	586	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000526567.1	ATM-004	560	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000531957.1	ATM-017	537	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000527389.1	ATM-021	402	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: ATM ENSG00000149311

Summary