Description
achalasia, adrenocortical insufficiency, alacrimia [Source:HGNC Symbol;Acc:13666]
Gene Synonyms
AAA, AAASb, ADRACALA, ADRACALIN, ALADIN
Location
Chromosome 12: 53,701,240-53,718,648 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 20 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000209873.4 | AAAS-001 | 1840 | 546aa | ENSP00000209873.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8856 | D9DBT1 D9DBT3 Q9NRG9 | NM_015665.5 | 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, |
| ENST00000394384.3 | AAAS-002 | 1703 | 513aa | ENSP00000377908.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53797 | D9DBT1 D9DBT3 F8VUB6 Q9NRG9 | NM_001173466.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000550286.1 | AAAS-004 | 1652 | 422aa | ENSP00000446885.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D9DBT1 D9DBT3 F8VZ44 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000548931.1 | AAAS-020 | 1075 | 358aa | ENSP00000457518.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D9DBT1 D9DBT3 H3BU82 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000547757.1 | AAAS-012 | 949 | 277aa | ENSP00000448020.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VUB6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000549983.1 | AAAS-021 | 860 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000547761.2 | AAAS-010 | 827 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000549821.1 | AAAS-011 | 596 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000549450.1 | AAAS-009 | 581 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000551724.1 | AAAS-016 | 552 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548258.1 | AAAS-015 | 550 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000552876.1 | AAAS-003 | 2016 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000547238.1 | AAAS-018 | 1154 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550033.1 | AAAS-019 | 900 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000546393.2 | AAAS-013 | 832 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000547520.1 | AAAS-022 | 769 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000546562.1 | AAAS-005 | 627 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000552161.1 | AAAS-023 | 585 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000546572.1 | AAAS-014 | 582 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000548880.1 | AAAS-017 | 577 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
