Description
aprataxin [Source:HGNC Symbol;Acc:15984]
Gene Synonyms
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157
Location
Chromosome 9: 32,972,604-33,001,626 reverse strand.
About this transcript
This transcript has 8 exons, is annotated with 11 domains and features, is associated with 13173 variant alleles and maps to 661 oligo probes.
Gene
This transcript is a product of gene ENSG00000137074.14 Show transcript tableHide transcript table
| 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379817.2 | APTX-011 | 2106 | 342aa | ENSP00000369145.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000379825.2 | APTX-002 | 2023 | 306aa | ENSP00000369153.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q7Z2E3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000436040.2 | APTX-203 | 1873 | 192aa | ENSP00000400806.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q7Z2E3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000379819.1 | APTX-003 | 1820 | 356aa | ENSP00000369147.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000468275.1 | APTX-017 | 1455 | 342aa | ENSP00000420263.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5HRF8 Q7Z2E3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |