CHST6
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CHST6 (HGNC:6938) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
carbohydrate sulfotransferase 6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MCDC1
Alias symbols
No aliases found
%HI
57.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.26(Read more about gnomAD pLI score)
LOEUF
1.71(Read more about gnomAD LOEUF score)
Cytoband
16q23.1
Genomic Coordinates
GRCh37/hg19: chr16:75505940-75529339 NCBI Ensembl UCSC
GRCh38/hg38: chr16:75472042-75495441 NCBI Ensembl UCSC
MANE Select Transcript
NM_021615.5 ENST00000332272.9 (Read more about MANE Select)
Function
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues of keratan (PubMed:11352640, PubMed:11278593, PubMed:12218059, PubMed:17690104). Cooperates with B4GALT4 galactosyltransferase and B3GNT7 N-acetylglucosaminyltransferase to construct and elongate the sulfated disaccharide unit [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer. Involved i... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29481
ClinGen Curation ID:
CCID:006867
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)