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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- macular corneal dystrophy Monarch
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)