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 6 exons, is annotated with 1 domain and feature, is associated with 13612 variant alleles and maps to 471 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: 6, Coding exons: 4, Transcript length: 2,728 bps, Translation length: 138 residues

Version

ENST00000672244.1

Type

Nonsense mediated decay

Annotation Method

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

Annotation Attributes

RNA-Seq supported only [Definitions]