EXT1: Gene Detail - Cancer Knowledgebase (CKB)

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Gene Symbol

EXT1

Synonyms

EXT | LGCR | LGS | TRPS2 | TTV

Gene Description

EXT1, exostosin glycosyltransferase 1, forms a hetero-oligomeric complex with EXT2 in the Golgi, which has glycosyltransferase activity (PMID: 10639137) and is involved in biosynthesis of heparan sulfate (PMID: 9756849, PMID: 11256613). Germline mutations in EXT1 and loss of heterozygosity are associated with hereditary multiple exostoses (PMID: 9463333, PMID: 8981950), and multiple osteochondromas (PMID: 24009674, PMID: 39336760), and have been identified in osteochondroma and chondrosarcoma (PMID: 10441575, PMID: 20418910).

NCBI Gene ID	Chromosome	Map Location	Canonical Transcript	Gene Role
2131	8	8q24.11	NM_000127	Unknown

Additional content available in

CKB BOOST

Gene Variants 8
Category Variants 0
Molecular Profiles 8
Evidence 0
Clinical Trials 0

KEY FEATURES

CKB CORE^TM

CKB BOOST^TM

CKB FLEX^TM

Access 50 genes & related content

Access 2000+ genes & related content

Scalable & flexible content integration for 2000+ genes

Genes

(50 Genes)

(2000+ Genes)

Gene Variants

Therapies

Limited

Global Drug Approvals

Drug Classes

Limited

Clinical Trials

Limited

Efficacy Evidence

Variant Tier Coding
(AMP/CAP/ASCO)

Advanced Search Capability

System Integration

More about our plans

The public access version, CKB CORE™, encompasses 50 cancer-related genes, and every quarter, a select group of genes are exchanged, focusing on a specific theme. Users can search CKB CORE™ via gene and gene variants. The web-based, subscription version, CKB BOOST™, includes more than 2000 cancer-related genes and is designed to interrogate the knowledgebase for specific data attributes while enabling a robust browse-like feature when the desired content is unknown.

Downloadable data from CKB is available using the FLEX version. CKB FLEX delivers CKB content as a flat file or JSON, enabling CKB data integration.

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EXT1 - Gene Detail

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