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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000550286.1 | AAAS-004 | 1652 | 422aa | ENSP00000446885.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D9DBT1 D9DBT3 F8VZ44 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
