SLC13A4
Basic information
Region (hg38): 7:135681230-135729258
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 SLC13A4 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 | 23 | 26 | ||||
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 | 0 |
Variants in SLC13A4
This is a list of pathogenic ClinVar variants found in the SLC13A4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-135681573-T-C | not specified | Uncertain significance (May 25, 2022) | ||
7-135681642-T-C | not specified | Uncertain significance (Jan 30, 2024) | ||
7-135681659-T-C | not specified | Uncertain significance (Apr 28, 2023) | ||
7-135684126-T-A | not specified | Uncertain significance (Sep 17, 2021) | ||
7-135684137-T-C | not specified | Uncertain significance (Mar 29, 2022) | ||
7-135684159-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
7-135684162-T-C | not specified | Uncertain significance (Aug 09, 2021) | ||
7-135684230-G-A | not specified | Uncertain significance (Dec 14, 2021) | ||
7-135685655-T-G | not specified | Uncertain significance (Oct 12, 2022) | ||
7-135691238-A-G | not specified | Uncertain significance (Oct 05, 2023) | ||
7-135691259-A-G | not specified | Uncertain significance (Oct 25, 2022) | ||
7-135691635-G-A | not specified | Uncertain significance (Jan 10, 2023) | ||
7-135692381-C-T | not specified | Uncertain significance (Jul 27, 2022) | ||
7-135692420-G-A | not specified | Uncertain significance (Apr 13, 2022) | ||
7-135694189-G-C | not specified | Likely benign (May 22, 2023) | ||
7-135695393-T-C | not specified | Uncertain significance (Jul 12, 2022) | ||
7-135701717-G-A | not specified | Uncertain significance (Oct 10, 2023) | ||
7-135702847-C-T | not specified | Likely benign (Feb 10, 2022) | ||
7-135706182-C-T | not specified | Uncertain significance (Mar 15, 2023) | ||
7-135706215-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
7-135706232-G-A | not specified | Uncertain significance (Sep 22, 2022) | ||
7-135706283-A-G | not specified | Uncertain significance (Feb 07, 2023) | ||
7-135708147-C-G | not specified | Uncertain significance (Mar 22, 2022) | ||
7-135708147-C-T | not specified | Uncertain significance (Dec 06, 2022) | ||
7-135708205-C-A | not specified | Uncertain significance (Dec 26, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC13A4 | protein_coding | protein_coding | ENST00000354042 | 16 | 48022 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.816 | 0.184 | 125729 | 0 | 18 | 125747 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.01 | 256 | 364 | 0.703 | 0.0000204 | 4089 |
Missense in Polyphen | 110 | 169.67 | 0.6483 | 1904 | ||
Synonymous | -0.0397 | 161 | 160 | 1.00 | 0.0000105 | 1283 |
Loss of Function | 4.26 | 6 | 32.0 | 0.188 | 0.00000154 | 352 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000214 | 0.000213 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000140 | 0.000139 |
European (Non-Finnish) | 0.0000710 | 0.0000703 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000666 | 0.0000653 |
Other | 0.000177 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Sodium/sulfate cotransporter that mediates sulfate reabsorption in the high endothelial venules (HEV). {ECO:0000269|PubMed:10535998, ECO:0000269|PubMed:15607730}.;
- Pathway
- Bile salt and organic anion SLC transporters;Sodium-coupled sulphate, di- and tri-carboxylate transporters;Transport of bile salts and organic acids, metal ions and amine compounds;SLC-mediated transmembrane transport;Transport of small molecules;Methionine and cysteine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.161
Intolerance Scores
- loftool
- 0.379
- rvis_EVS
- -0.58
- rvis_percentile_EVS
- 18.72
Haploinsufficiency Scores
- pHI
- 0.110
- hipred
- Y
- hipred_score
- 0.728
- ghis
- 0.425
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.129
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc13a4
- Phenotype
- embryo 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; digestive/alimentary phenotype; skeleton phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype;
Gene ontology
- Biological process
- sodium ion transport;sulfate transport;citrate transport;succinate transmembrane transport;sulfate transmembrane transport
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- citrate transmembrane transporter activity;succinate transmembrane transporter activity;sodium:sulfate symporter activity;sodium:dicarboxylate symporter activity