Transcript: ENST00000579243.1 USH1G-002

Description

Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol;Acc:16356]

Gene Synonyms

ANKS4A, FLJ33924, SANS, Sans

Location

About this transcript

This transcript has 3 exons, is annotated with 6 domains and features, is associated with 3105 variant alleles and maps to 152 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000319642.1	USH1G-001	3561	461aa	ENSP00000320076.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS32725	Q495M9	NM_173477.2	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,
ENST00000579243.1	USH1G-002	1673	115aa	ENSP00000462568.1	Nonsense mediated decay		J3KSN5	-	-

Summary

Statistics

Exons: 3, Coding exons: 2, Transcript length: 1,673 bps, Translation length: 115 residues

Version

ENST00000579243.1

Type

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:	OTTHUMT00000443677 (version 1)