CHST7

carbohydrate sulfotransferase 7, the group of Sulfotransferases, membrane bound

Basic information

Region (hg38): X:46573765-46598496

Links

ENSG00000147119NCBI:56548OMIM:300375HGNC:13817Uniprot:Q9NS84AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CHST7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHST7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
2
clinvar
5
missense
23
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 23 3 2

Variants in CHST7

This is a list of pathogenic ClinVar variants found in the CHST7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
X-46573956-C-G not specified Uncertain significance (Jan 17, 2025)3833285
X-46574001-G-A not specified Uncertain significance (Sep 11, 2024)3492767
X-46574001-G-C not specified Uncertain significance (Nov 21, 2023)3144763
X-46574014-T-C not specified Uncertain significance (May 15, 2024)3267248
X-46574022-G-A not specified Uncertain significance (Sep 14, 2022)2312152
X-46574068-C-T not specified Uncertain significance (Mar 06, 2025)3833287
X-46574122-A-C not specified Uncertain significance (Oct 29, 2021)2233892
X-46574146-G-A not specified Uncertain significance (Jun 25, 2024)3492765
X-46574375-C-A not specified Uncertain significance (Nov 13, 2023)3144760
X-46574445-G-A not specified Uncertain significance (Mar 14, 2024)3144761
X-46574452-C-T not specified Uncertain significance (Jun 18, 2024)3267249
X-46574476-C-G not specified Uncertain significance (Jan 21, 2025)3833284
X-46574487-A-G not specified Uncertain significance (Dec 12, 2023)3144762
X-46574493-A-T not specified Uncertain significance (Apr 25, 2022)2285285
X-46574585-C-T Benign (May 25, 2018)722997
X-46574729-T-C Benign (May 30, 2018)773924
X-46574809-G-T Uncertain significance (Jun 01, 2023)2660382
X-46574889-G-C not specified Uncertain significance (Sep 01, 2021)2251638
X-46574898-C-T not specified Uncertain significance (Feb 08, 2025)3833286
X-46574924-G-T Likely benign (Mar 01, 2023)2660383
X-46574934-C-A not specified Uncertain significance (Dec 11, 2023)3144757
X-46574940-G-A not specified Uncertain significance (Oct 13, 2023)3144758
X-46574991-C-A not specified Uncertain significance (Mar 27, 2023)2530041
X-46575012-G-C not specified Uncertain significance (Mar 15, 2024)3267247
X-46575069-C-T not specified Conflicting classifications of pathogenicity (Aug 05, 2024)2660384

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CHST7protein_codingprotein_codingENST00000276055 124625
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.06870.878124944111249460.00000800
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.94971680.5790.00001142991
Missense in Polyphen3575.4760.463731400
Synonymous0.2197981.50.9690.000005661113
Loss of Function1.6337.970.3775.12e-7128

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.0001090.0000654
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N- acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc. {ECO:0000269|PubMed:10781596, ECO:0000269|PubMed:10913333, ECO:0000269|PubMed:10956661}.;
Pathway
Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate - Homo sapiens (human);Metapathway biotransformation Phase I and II;Metabolism of carbohydrates;Chondroitin sulfate biosynthesis;Chondroitin sulfate/dermatan sulfate metabolism;Glycosaminoglycan metabolism;chondroitin sulfate biosynthesis (late stages);Proteoglycan biosynthesis;chondroitin sulfate biosynthesis;Metabolism (Consensus)

Recessive Scores

pRec
0.142

Haploinsufficiency Scores

pHI
0.532
hipred
Y
hipred_score
0.530
ghis
0.430

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Chst7
Phenotype

Gene ontology

Biological process
polysaccharide metabolic process;N-acetylglucosamine metabolic process;sulfur compound metabolic process;chondroitin sulfate biosynthetic process
Cellular component
Golgi membrane;trans-Golgi network;integral component of membrane
Molecular function
N-acetylglucosamine 6-O-sulfotransferase activity;chondroitin 6-sulfotransferase activity