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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: NBN ENSG00000104320

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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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000265433.3	NBN-001	4666	754aa	ENSP00000265433.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6249	E5RGN7 E5RGR7 O60934	NM_002485.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409330.1	NBN-003	4523	672aa	ENSP00000386924.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7 E5RGR7 O60934	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000517772.1	NBN-011	701	164aa	ENSP00000428717.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7 E5RGR7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000517337.1	NBN-013	565	92aa	ENSP00000429971.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGN7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000519426.1	NBN-010	535	159aa	ENSP00000430983.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E5RGU1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.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	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000474821.1	NBN-008	503	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000520325.1	NBN-012	494	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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