SLC35B4
Basic information
Region (hg38): 7:134289331-134316930
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (13 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC35B4 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 | 0 | |||||
missense | 12 | 13 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 0 | |||||
Total | 0 | 0 | 12 | 1 | 0 |
Variants in SLC35B4
This is a list of pathogenic ClinVar variants found in the SLC35B4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-134294863-A-T | not specified | Uncertain significance (Jul 14, 2021) | ||
7-134295003-G-A | not specified | Uncertain significance (Nov 21, 2022) | ||
7-134295015-C-T | not specified | Uncertain significance (Apr 08, 2022) | ||
7-134295018-G-A | not specified | Uncertain significance (Jul 09, 2021) | ||
7-134295024-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
7-134295047-G-C | not specified | Uncertain significance (Feb 02, 2022) | ||
7-134295056-A-C | not specified | Uncertain significance (Jan 04, 2022) | ||
7-134295077-T-C | not specified | Uncertain significance (Mar 31, 2023) | ||
7-134296418-A-G | not specified | Uncertain significance (Jan 29, 2024) | ||
7-134296449-C-T | not specified | Uncertain significance (Jul 13, 2021) | ||
7-134296461-A-G | not specified | Uncertain significance (Apr 25, 2022) | ||
7-134299574-C-T | not specified | Likely benign (Dec 19, 2022) | ||
7-134309384-G-A | not specified | Uncertain significance (Oct 22, 2021) | ||
7-134316748-G-A | not specified | Uncertain significance (Mar 06, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC35B4 | protein_coding | protein_coding | ENST00000378509 | 10 | 27720 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000261 | 0.930 | 125702 | 0 | 45 | 125747 | 0.000179 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.20 | 140 | 186 | 0.752 | 0.00000967 | 2179 |
Missense in Polyphen | 37 | 53.004 | 0.69806 | 622 | ||
Synonymous | -0.320 | 75 | 71.6 | 1.05 | 0.00000411 | 628 |
Loss of Function | 1.68 | 10 | 17.6 | 0.567 | 9.42e-7 | 200 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000294 | 0.000294 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000285 | 0.000264 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000163 | 0.000163 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Sugar transporter that specifically mediates the transport of UDP-xylose (UDP-Xyl) and UDP-N-acetylglucosamine (UDP-GlcNAc) from cytosol into Golgi. {ECO:0000269|PubMed:15911612}.;
- Pathway
- Proteoglycan biosynthesis;Transport of vitamins, nucleosides, and related molecules;SLC-mediated transmembrane transport;Transport of small molecules;Galactose metabolism;Transport of nucleotide sugars
(Consensus)
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- 0.586
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.75
Haploinsufficiency Scores
- pHI
- 0.325
- hipred
- N
- hipred_score
- 0.389
- ghis
- 0.573
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.593
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc35b4
- Phenotype
- homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- regulation of gluconeogenesis;carbohydrate transport;UDP-xylose transmembrane transport;3'-phospho-5'-adenylyl sulfate transmembrane transport;UDP-N-acetylglucosamine transmembrane transport
- Cellular component
- Golgi membrane;endoplasmic reticulum;Golgi apparatus;integral component of Golgi membrane;integral component of endoplasmic reticulum membrane
- Molecular function
- UDP-N-acetylglucosamine transmembrane transporter activity;UDP-xylose transmembrane transporter activity;protein binding;transmembrane transporter activity