Description

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

Synonyms

ANKS4A, FLJ33924, Sans

Location
INSDC coordinates

chromosome:GRCh38:CM000679.2:74916084:74923256:1

About this gene

This gene has 2 transcripts (splice variants), 65 orthologues, 1 paralogue, is a member of 2 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
USH1G-001ENST000006143413558461aaENSP00000480279
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS32725Q495M9 NM_001282489
NM_173477
NP_001269418
NP_775748
TSL:1

Transcript Support Level 1, when transcripts 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 P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

USH1G-002ENST000005792431673115aaENSP00000462568
 
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.
-J3KSN5 -TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA 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.

Gene-based displays