Human (GRCh37.p13)
Description

aprataxin [Source:HGNC Symbol;Acc:15984]

Gene Synonyms

AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, FLJ20157

Location
About this transcript

This transcript has 6 exons, is annotated with 4 domains and features, is associated with 5057 variant alleles and maps to 453 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000379817.2APTX-0112106342aaENSP00000369145.2
 
Protein coding
F5HRF8 Q7Z2E3 -GENCODE basic
ENST00000379825.2APTX-0022023306aaENSP00000369153.2
 
Protein coding
Q7Z2E3 -GENCODE basic
ENST00000309615.3APTX-2012018306aaENSP00000311547.3
 
Protein coding
CCDS6532Q7Z2E3 NM_175073.2GENCODE basic
ENST00000436040.2APTX-2031873192aaENSP00000400806.2
 
Protein coding
Q7Z2E3 -GENCODE basic
ENST00000379819.1APTX-0031820356aaENSP00000369147.1
 
Protein coding
F5HRF8 Q7Z2E3 -GENCODE basic
ENST00000397172.3APTX-0211740284aaENSP00000380357.3
 
Protein coding
F8W6G5 Q7Z2E3 NM_001195252.1GENCODE basic
ENST00000468275.1APTX-0171455342aaENSP00000420263.1
 
Protein coding
F5HRF8 Q7Z2E3 -GENCODE basic
ENST00000463596.1APTX-0071345342aaENSP00000419846.1
 
Protein coding
F5HRF8 Q7Z2E3 NM_001195249.1GENCODE basic
ENST00000379813.3APTX-2021200342aaENSP00000369141.3
 
Protein coding
CCDS47956F5HRF8 Q7Z2E3 -GENCODE basic
ENST00000476858.1APTX-0061068302aaENSP00000419042.1
 
Protein coding
CCDS56568C9J8U3 C9JZ40 Q7Z2E3
NM_001195250.1GENCODE basic
ENST00000473221.1APTX-025687216aaENSP00000419020.1
 
Protein coding
C9J8U3 C9JZ40 -CDS 3' incomplete
ENST00000379812.5APTX-030599198aaENSP00000369140.5
 
Protein coding
F8W6G5 -CDS 3' incomplete
ENST00000477119.1APTX-026568155aaENSP00000417649.1
 
Protein coding
C9J8U3 -CDS 3' incomplete
ENST00000467331.1APTX-012210149aaENSP00000418733.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000494649.1APTX-009209949aaENSP00000417634.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000465003.1APTX-001199185aaENSP00000419430.1
 
Nonsense mediated decay
Q6JV79 --
ENST00000485479.1APTX-010198649aaENSP00000418144.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000479656.1APTX-004188149aaENSP00000420071.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000482687.1APTX-0151879192aaENSP00000419289.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000460940.1APTX-016187449aaENSP00000418311.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000483148.1APTX-014176485aaENSP00000419723.1
 
Nonsense mediated decay
Q6JV79 --
ENST00000472896.1APTX-013175949aaENSP00000417804.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000495360.1APTX-008131349aaENSP00000419623.1
 
Nonsense mediated decay
Q7Z2E3 --
ENST00000474658.2APTX-02895274aaENSP00000417750.2
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000478279.1APTX-01968499aaENSP00000419597.1
 
Nonsense mediated decay
E7EVB7 Q6JV79 --
ENST00000464632.1APTX-01867963aaENSP00000418069.1
 
Nonsense mediated decay
E7EUY4 --
ENST00000480031.1APTX-02767452aaENSP00000417684.1
 
Nonsense mediated decay
F8WBD6 --
ENST00000473270.1APTX-023645No protein-
 
Processed transcript
---
ENST00000486724.1APTX-032556No protein-
 
Processed transcript
---
ENST00000460945.1APTX-022542No protein-
 
Processed transcript
---
ENST00000489583.1APTX-024397No protein-
 
Processed transcript
---
ENST00000496030.1APTX-031633No protein-
 
Retained intron
---
ENST00000494973.1APTX-029547No protein-
 
Retained intron
---
Statistics

Exons: 6, Coding exons: 2, Transcript length: 1,759 bps, Translation length: 49 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q7Z2E3

Version

ENST00000472896.1

Type

Nonsense mediated decay

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000355319 (version 1)