Transcript: ENST00000409330.1 NBN-003

Description

nibrin [Source:HGNC Symbol;Acc:7652]

Gene Synonyms

AT-V1, AT-V2, ATV, NBS, NBS1, P95

Location

Chromosome 8: 90,945,712-90,996,632 reverse strand.

About this transcript

This transcript has 16 exons, is annotated with 6 domains and features, is associated with 23675 variant alleles and maps to 748 oligo probes.

Gene

This transcript is a product of gene ENSG00000104320.9 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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

Summary

Statistics

Exons: 16, Coding exons: 14, Transcript length: 4,523 bps, Translation length: 672 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O60934

Version

ENST00000409330.1

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000331585 (version 2)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

EMBL-EBI User Survey 2024

Favourite species

All species

Recent locations

Transcript: ENST00000409330.1 NBN-003

Summary