Description
aprataxin [Source:HGNC Symbol;Acc:15984]
Gene Synonyms
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157
Location
Chromosome 9: 32,973,374-33,001,639 reverse strand.
About this transcript
This transcript has 7 exons, is annotated with 10 domains and features, is associated with 12849 variant alleles and maps to 368 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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, | |
| ENST00000379813.3 | APTX-202 | 1200 | 342aa | ENSP00000369141.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47956 | 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, |
| 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 | - | - | - |