Description

exostosin glycosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:3512]

Synonyms

LGCR, LGS, ttv

INSDC coordinates

chromosome:GRCh38:CM000670.2:117794490:118111853:1

About this gene

This gene has 3 transcripts (splice variants), 77 orthologues, 4 paralogues, is a member of 2 Ensembl protein families and is associated with 8 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
EXT1-001ENST000003782048270746aaENSP00000367446
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS6324Q16394 NM_000127
NP_000118
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.

EXT1-003ENST00000436216700207aaENSP00000400372
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C1H6 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

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.

EXT1-004ENST00000437196144641aaENSP00000407299
 
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.
-F8WF54 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an 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.

Gene-based displays