Description

nibrin [Source:HGNC Symbol;Acc:HGNC:7652]

Synonyms

AT-V1, AT-V2, NBS, ATV, NBS1

Location

Chromosome 8: 89,933,336-90,003,228 reverse strand.

GRCh38:CM000670.2

About this gene

This gene has 11 transcripts (splice variants), 85 orthologues, is a member of 1 Ensembl protein family and is associated with 7 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NBN-201ENST00000265433.74666754aaENSP00000265433
 
Protein coding
CCDS6249O60934 NM_002485
NP_002476
TSL:1GENCODE basicAPPRIS P1
NBN-203ENST00000409330.54523672aaENSP00000386924
 
Protein coding
CCDS43753A0A0C4DG07 NM_001024688
NP_001019859
TSL:5GENCODE basic
NBN-211ENST00000613033.1786124aaENSP00000484487
 
Protein coding
-A0A087X1V5 -CDS 5' incompleteTSL:3
NBN-207ENST00000517772.5701164aaENSP00000428717
 
Protein coding
-E5RGR7 -CDS 3' incompleteTSL:3
NBN-206ENST00000517337.156592aaENSP00000429971
 
Protein coding
-E5RGN7 -CDS 3' incompleteTSL:4
NBN-208ENST00000519426.5535159aaENSP00000430983
 
Protein coding
-E5RGU1 -CDS 3' incompleteTSL:4
NBN-202ENST00000396252.6490758aaENSP00000379551
 
Nonsense mediated decay
-E2QRP0 -TSL:5
NBN-210ENST00000523444.159358aaENSP00000428252
 
Nonsense mediated decay
-E2QRP0 -TSL:4
NBN-205ENST00000494804.1593No protein-
 
Retained intron
---TSL:3
NBN-204ENST00000474821.1503No protein-
 
Retained intron
---TSL:2
NBN-209ENST00000520325.1494No protein-
 
Retained intron
---TSL:5

Gene-based displays