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
| 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 | - | - | - |
