Human (GRCh38.p14)
Description

aprataxin [Source:HGNC Symbol;Acc:HGNC:15984]

Gene Synonyms

AOA, AOA1, AXA1, EAOH, EOAHA, FLJ20157

Location
About this transcript

This transcript has 7 exons, is annotated with 13 domains and features, is associated with 13093 variant alleles and maps to 563 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000379817.7APTX-2031977342aaENSP00000369145.2
 
Protein coding
CCDS47956Q7Z2E3-7 NM_001195248.2MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000673416.1APTX-2533202254aaENSP00000500738.1
 
Protein coding
CCDS47957Q7Z2E3-4 -GENCODE basic
ENST00000379825.7APTX-2052023292aaENSP00000369153.3
 
Protein coding
CCDS6532Q7Z2E3-9 -GENCODE basicTSL:2
ENST00000379819.6APTX-2041938342aaENSP00000369147.2
 
Protein coding
CCDS47956Q7Z2E3-7 -GENCODE basicAPPRIS P1TSL:1
ENST00000673248.1APTX-2501880254aaENSP00000500601.1
 
Protein coding
CCDS47957Q7Z2E3-4 -GENCODE basic
ENST00000436040.7APTX-2071846288aaENSP00000400806.4
 
Protein coding
CCDS75827Q7Z2E3-5 -GENCODE basicTSL:1
ENST00000672438.1APTX-2381805254aaENSP00000499997.1
 
Protein coding
CCDS47957Q7Z2E3-4 -GENCODE basic
ENST00000309615.8APTX-2011742288aaENSP00000311547.4
 
Protein coding
CCDS75827Q7Z2E3-5 -GENCODE basicTSL:1
ENST00000397172.8APTX-2061740270aaENSP00000380357.4
 
Protein coding
CCDS94395A0A5K1VW64 -GENCODE basicTSL:1
ENST00000673598.1APTX-2561394168aaENSP00000499991.1
 
Protein coding
Q7Z2E3-2 -GENCODE basic
ENST00000463596.6APTX-2101345342aaENSP00000419846.1
 
Protein coding
CCDS47956Q7Z2E3-7 -GENCODE basicAPPRIS P1TSL:1
ENST00000468275.6APTX-2141213292aaENSP00000420263.2
 
Protein coding
CCDS6532Q7Z2E3-9 -GENCODE basicTSL:1
ENST00000379813.7APTX-2021121336aaENSP00000369141.4
 
Protein coding
A0A0A0MRW7 -GENCODE basicTSL:5
ENST00000476858.6APTX-2181068288aaENSP00000419042.2
 
Protein coding
CCDS75827Q7Z2E3-5 -GENCODE basicTSL:1
ENST00000477119.2APTX-2191031303aaENSP00000417649.2
 
Protein coding
C9J8U3 -GENCODE basicTSL:3
ENST00000672519.1APTX-241425649aaENSP00000500320.1
 
Nonsense mediated decay
Q7Z2E3-12 --
ENST00000673360.1APTX-252296668aaENSP00000500360.1
 
Nonsense mediated decay
F8WBM3 --
ENST00000672244.1APTX-2352728138aaENSP00000499875.1
 
Nonsense mediated decay
A0A5F9ZGW5 --
ENST00000673487.1APTX-255210149aaENSP00000500943.1
 
Nonsense mediated decay
Q7Z2E3-12 --
ENST00000494649.5APTX-228209949aaENSP00000417634.1
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000479656.6APTX-221205749aaENSP00000420071.1
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000483148.6APTX-224202285aaENSP00000419723.1
 
Nonsense mediated decay
Q6JV79 -TSL:1
ENST00000472896.6APTX-215196252aaENSP00000417804.2
 
Nonsense mediated decay
F8WBD6 -TSL:1
ENST00000467331.6APTX-213193849aaENSP00000418733.1
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000465003.6APTX-212191449aaENSP00000419430.2
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000672846.1APTX-245189749aaENSP00000500396.1
 
Nonsense mediated decay
Q7Z2E3-12 --
ENST00000672535.1APTX-242186149aaENSP00000499872.1
 
Nonsense mediated decay
Q7Z2E3-12 --
ENST00000482687.6APTX-223182249aaENSP00000419289.2
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000485479.6APTX-225181449aaENSP00000418144.1
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000460940.6APTX-208172549aaENSP00000418311.1
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000495360.6APTX-230118460aaENSP00000419623.2
 
Nonsense mediated decay
A0A5K1VW80 -TSL:5
ENST00000474658.7APTX-21795268aaENSP00000417750.3
 
Nonsense mediated decay
F8WBM3 -TSL:5
ENST00000478279.6APTX-22068485aaENSP00000419597.2
 
Nonsense mediated decay
Q6JV79 -TSL:1
ENST00000464632.6APTX-21167949aaENSP00000418069.2
 
Nonsense mediated decay
Q7Z2E3-12 -TSL:1
ENST00000480031.6APTX-22267252aaENSP00000417684.1
 
Nonsense mediated decay
F8WBD6 -TSL:5
ENST00000671912.1APTX-233650104aaENSP00000500871.1
 
Nonsense mediated decay
A0A5F9ZI51 --
ENST00000671774.1APTX-2321782No protein-
 
Protein coding CDS not defined
---
ENST00000672281.1APTX-2361348No protein-
 
Protein coding CDS not defined
---
ENST00000473270.1APTX-216645No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000486724.5APTX-226556No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000489583.1APTX-227397No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000672493.1APTX-2403108No protein-
 
Retained intron
---
ENST00000673114.1APTX-2462284No protein-
 
Retained intron
---
ENST00000673333.1APTX-2512178No protein-
 
Retained intron
---
ENST00000673485.1APTX-2542106No protein-
 
Retained intron
---
ENST00000672476.1APTX-2392101No protein-
 
Retained intron
---
ENST00000672286.1APTX-2372032No protein-
 
Retained intron
---
ENST00000673211.1APTX-2491991No protein-
 
Retained intron
---
ENST00000672615.1APTX-2441986No protein-
 
Retained intron
---
ENST00000672152.1APTX-2341879No protein-
 
Retained intron
---
ENST00000673171.1APTX-2471759No protein-
 
Retained intron
---
ENST00000673181.1APTX-2481657No protein-
 
Retained intron
---
ENST00000496030.2APTX-2311458No protein-
 
Retained intron
--TSL:3
ENST00000672553.1APTX-2431214No protein-
 
Retained intron
---
ENST00000460945.6APTX-2091152No protein-
 
Retained intron
--TSL:4
ENST00000494973.1APTX-229547No protein-
 
Retained intron
--TSL:4
Statistics

Exons: 7, Coding exons: 6, Transcript length: 1,742 bps, Translation length: 288 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q7Z2E3

CCDS

This transcript is a member of the Human CCDS set: CCDS75827

Transcript Support Level (TSL)

TSL:1

Version

ENST00000309615.8

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Annotation Attributes

RNA-Seq supported only [Definitions]

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.