Description
nibrin [Source:HGNC Symbol;Acc:7652]
Gene Synonyms
AT-V1, AT-V2, ATV, NBS, NBS1, P95
Location
Chromosome 8: 90,945,564-91,015,456 reverse strand.
GRCh37:CM000670.1
About this gene
This gene has 10 transcripts (splice variants) and is associated with 75 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000265433.3 | NBN-001 | 4666 | 754aa | ENSP00000265433.3 | Protein coding | CCDS6249 | E5RGN7 E5RGR7 O60934 | NM_002485.4 | Ensembl Canonical, GENCODE Basic, |
| ENST00000409330.1 | NBN-003 | 4523 | 672aa | ENSP00000386924.1 | Protein coding | E5RGN7 E5RGR7 O60934 | - | GENCODE Basic, | |
| ENST00000517772.1 | NBN-011 | 701 | 164aa | ENSP00000428717.1 | Protein coding | E5RGN7 E5RGR7 | - | CDS 3' incomplete, | |
| ENST00000517337.1 | NBN-013 | 565 | 92aa | ENSP00000429971.1 | Protein coding | E5RGN7 | - | CDS 3' incomplete, | |
| ENST00000519426.1 | NBN-010 | 535 | 159aa | ENSP00000430983.1 | Protein coding | E5RGU1 | - | CDS 3' incomplete, | |
| ENST00000396252.2 | NBN-002 | 4907 | 58aa | ENSP00000379551.2 | Nonsense mediated decay | E2QRP0 | - | - | |
| ENST00000523444.1 | NBN-009 | 593 | 58aa | ENSP00000428252.1 | Nonsense mediated decay | E2QRP0 | - | - | |
| ENST00000494804.1 | NBN-006 | 593 | No protein | - | Retained intron | - | - | - | |
| ENST00000474821.1 | NBN-008 | 503 | No protein | - | Retained intron | - | - | - | |
| ENST00000520325.1 | NBN-012 | 494 | No protein | - | Retained intron | - | - | - |
