Description

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

Synonyms

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

Location
About this transcript

This transcript has 19 exons, is annotated with 2 domains and features, is associated with 14 variations and maps to 20 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NBN-001ENST000002654334666754aaENSP00000265433
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS6249O60934 NM_002485
NP_002476
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PI1APPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
NBN-003ENST000004093304523672aaENSP00000386924
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-O60934 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
NBN-014ENST00000613033786124aaENSP00000484487
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087X1V5 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-011ENST00000517772701165aaENSP00000428717
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5RGR7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-013ENST0000051733756592aaENSP00000429971
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5RGN7 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-010ENST00000519426535159aaENSP00000430983
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5RGU1 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-002ENST00000396252490758aaENSP00000379551
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E2QRP0 -TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-009ENST0000052344459358aaENSP00000428252
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E2QRP0 -TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-006ENST00000494804593No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-008ENST00000474821503No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NBN-012ENST00000520325494No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Statistics

Exons: 19 Coding exons: 3 Transcript length: 4,907 bps Translation length: 58 residues

Transcript Support Level (TSL)

TSL:5

Ensembl version

ENST00000396252.5

Type

Known nonsense mediated decay

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:

Transcript-based displays