CHSY1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CHSY1 (HGNC:17198) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- chondroitin sulfate synthase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0990, CSS1
- %HI
- 54.01(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.71(Read more about gnomAD pLI score)
- LOEUF
- 0.41(Read more about gnomAD LOEUF score)
- Cytoband
- 15q26.3
- Genomic Coordinates
-
GRCh37/hg19: chr15:101715932-101792253 NCBI Ensembl UCSC GRCh38/hg38: chr15:101175727-101252048 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014918.5 ENST00000254190.4 (Read more about MANE Select)
- Function
- Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP- GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. {ECO:0000269|PubMed:11514575, ECO:0000269|PubMed:12716890, ECO:0000269|PubMed:21129727}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-18251
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:
- temtamy preaxial brachydactyly syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)