Description

nuclear protein, ataxia-telangiectasia locus [Source:HGNC Symbol;Acc:HGNC:7896]

Synonyms

E14

Location

Chromosome 11: 108,157,215-108,222,642 reverse strand.

GRCh38:CM000673.2

About this gene

This gene has 6 transcripts (splice variants), 64 orthologues, is a member of 2 Ensembl protein families and is associated with 161 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NPAT-001ENST0000027861261171427aaENSP00000278612
 
Protein coding
CCDS41710Q14207 NM_002519
NP_002510
TSL:1GENCODE basicAPPRIS P2
NPAT-006ENST00000527296898300aaENSP00000436510
 
Protein coding
-H0YET3 -CDS 5' and 3' incompleteTSL:3APPRIS ALT2
NPAT-005ENST0000053138457560aaENSP00000433497
 
Nonsense mediated decay
-E9PKJ1 -TSL:5APPRIS ALT2
NPAT-003ENST000006102533959No protein-
 
Processed transcript
---TSL:2
NPAT-004ENST000005308591806No protein-
 
Retained intron
---TSL:2
NPAT-007ENST00000530926745No protein-
 
Retained intron
---TSL:3

Gene-based displays