CHST7
Basic information
Region (hg38): X:46573765-46598496
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 5 | |||||
missense | 23 | 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) | ||
X-46574001-G-A | not specified | Uncertain significance (Sep 11, 2024) | ||
X-46574001-G-C | not specified | Uncertain significance (Nov 21, 2023) | ||
X-46574014-T-C | not specified | Uncertain significance (May 15, 2024) | ||
X-46574022-G-A | not specified | Uncertain significance (Sep 14, 2022) | ||
X-46574068-C-T | not specified | Uncertain significance (Mar 06, 2025) | ||
X-46574122-A-C | not specified | Uncertain significance (Oct 29, 2021) | ||
X-46574146-G-A | not specified | Uncertain significance (Jun 25, 2024) | ||
X-46574375-C-A | not specified | Uncertain significance (Nov 13, 2023) | ||
X-46574445-G-A | not specified | Uncertain significance (Mar 14, 2024) | ||
X-46574452-C-T | not specified | Uncertain significance (Jun 18, 2024) | ||
X-46574476-C-G | not specified | Uncertain significance (Jan 21, 2025) | ||
X-46574487-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
X-46574493-A-T | not specified | Uncertain significance (Apr 25, 2022) | ||
X-46574585-C-T | Benign (May 25, 2018) | |||
X-46574729-T-C | Benign (May 30, 2018) | |||
X-46574809-G-T | Uncertain significance (Jun 01, 2023) | |||
X-46574889-G-C | not specified | Uncertain significance (Sep 01, 2021) | ||
X-46574898-C-T | not specified | Uncertain significance (Feb 08, 2025) | ||
X-46574924-G-T | Likely benign (Mar 01, 2023) | |||
X-46574934-C-A | not specified | Uncertain significance (Dec 11, 2023) | ||
X-46574940-G-A | not specified | Uncertain significance (Oct 13, 2023) | ||
X-46574991-C-A | not specified | Uncertain significance (Mar 27, 2023) | ||
X-46575012-G-C | not specified | Uncertain significance (Mar 15, 2024) | ||
X-46575069-C-T | not specified | Conflicting classifications of pathogenicity (Aug 05, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CHST7 | protein_coding | protein_coding | ENST00000276055 | 1 | 24625 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0687 | 0.878 | 124944 | 1 | 1 | 124946 | 0.00000800 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.94 | 97 | 168 | 0.579 | 0.0000114 | 2991 |
Missense in Polyphen | 35 | 75.476 | 0.46373 | 1400 | ||
Synonymous | 0.219 | 79 | 81.5 | 0.969 | 0.00000566 | 1113 |
Loss of Function | 1.63 | 3 | 7.97 | 0.377 | 5.12e-7 | 128 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000109 | 0.0000654 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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