Description
aprataxin [Source:HGNC Symbol;Acc:15984]
Gene Synonyms
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157
Location
Chromosome 9: 32,972,604-33,025,166 reverse strand.
GRCh37:CM000671.1
About this gene
This gene has 33 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000379813.3 | APTX-202 | 1200 | 342aa | ENSP00000369141.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47956 | F5HRF8 Q7Z2E3 | - | 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, |
| ENST00000379817.2 | APTX-011 | 2106 | 342aa | ENSP00000369145.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000379825.2 | APTX-002 | 2023 | 306aa | ENSP00000369153.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q7Z2E3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000309615.3 | APTX-201 | 2018 | 306aa | ENSP00000311547.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6532 | Q7Z2E3 | NM_175073.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000436040.2 | APTX-203 | 1873 | 192aa | ENSP00000400806.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q7Z2E3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000379819.1 | APTX-003 | 1820 | 356aa | ENSP00000369147.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000397172.3 | APTX-021 | 1740 | 284aa | ENSP00000380357.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W6G5 Q7Z2E3 | NM_001195252.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000468275.1 | APTX-017 | 1455 | 342aa | ENSP00000420263.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000463596.1 | APTX-007 | 1345 | 342aa | ENSP00000419846.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | NM_001195249.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000476858.1 | APTX-006 | 1068 | 302aa | ENSP00000419042.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS56568 | C9J8U3 C9JZ40 Q7Z2E3 | NM_001195250.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000473221.1 | APTX-025 | 687 | 216aa | ENSP00000419020.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J8U3 C9JZ40 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000379812.5 | APTX-030 | 599 | 198aa | ENSP00000369140.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8W6G5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000477119.1 | APTX-026 | 568 | 155aa | ENSP00000417649.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J8U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000467331.1 | APTX-012 | 2101 | 49aa | ENSP00000418733.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000494649.1 | APTX-009 | 2099 | 49aa | ENSP00000417634.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000465003.1 | APTX-001 | 1991 | 85aa | ENSP00000419430.1 | Nonsense mediated decay | Q6JV79 | - | - | |
| ENST00000485479.1 | APTX-010 | 1986 | 49aa | ENSP00000418144.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000479656.1 | APTX-004 | 1881 | 49aa | ENSP00000420071.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000482687.1 | APTX-015 | 1879 | 192aa | ENSP00000419289.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000460940.1 | APTX-016 | 1874 | 49aa | ENSP00000418311.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000483148.1 | APTX-014 | 1764 | 85aa | ENSP00000419723.1 | Nonsense mediated decay | Q6JV79 | - | - | |
| ENST00000472896.1 | APTX-013 | 1759 | 49aa | ENSP00000417804.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000495360.1 | APTX-008 | 1313 | 49aa | ENSP00000419623.1 | Nonsense mediated decay | Q7Z2E3 | - | - | |
| ENST00000474658.2 | APTX-028 | 952 | 74aa | ENSP00000417750.2 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000478279.1 | APTX-019 | 684 | 99aa | ENSP00000419597.1 | Nonsense mediated decay | E7EVB7 Q6JV79 | - | - | |
| ENST00000464632.1 | APTX-018 | 679 | 63aa | ENSP00000418069.1 | Nonsense mediated decay | E7EUY4 | - | - | |
| ENST00000480031.1 | APTX-027 | 674 | 52aa | ENSP00000417684.1 | Nonsense mediated decay | F8WBD6 | - | - | |
| ENST00000473270.1 | APTX-023 | 645 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000486724.1 | APTX-032 | 556 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460945.1 | APTX-022 | 542 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000489583.1 | APTX-024 | 397 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000496030.1 | APTX-031 | 633 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494973.1 | APTX-029 | 547 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
