Transcript: ENST00000366942.3 USH2A-001

Description

Usher syndrome 2A (autosomal recessive, mild) [Source:HGNC Symbol;Acc:12601]

Gene Synonyms

RP39, US2, USH2, dJ1111A8.1

Location

About this transcript

This transcript has 21 exons, is annotated with 96 domains and features, is associated with 111968 variant alleles and maps to 608 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000366943.2	USH2A-201	18955	5226aa	ENSP00000355910.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O75445	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000307340.3	USH2A-002	18883	5202aa	ENSP00000305941.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS31025	O75445	NM_206933.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000366942.3	USH2A-001	6320	1546aa	ENSP00000355909.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1516	O75445	NM_007123.5	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000481786.1	USH2A-003	626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463147.1	USH2A-004	618	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: 21, Coding exons: 20, Transcript length: 6,320 bps, Translation length: 1,546 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: O75445

CCDS

This transcript is a member of the Human CCDS set: CCDS1516

Incomplete CDS

5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete

Version

ENST00000366942.3

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000090016 (version 3)

GENCODE basic gene

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