SLC10A5

solute carrier family 10 member 5, the group of Solute carrier family 10

Basic information

Region (hg38): 8:81693630-81695058

Links

ENSG00000253598 ∙ NCBI:347051 ∙ OMIM:618582 ∙ HGNC:22981 ∙ Uniprot:Q5PT55 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC10A5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC10A5 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			30	2		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	0

Variants in SLC10A5

This is a list of pathogenic ClinVar variants found in the SLC10A5 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-81693672-C-T		not specified	Likely benign (Aug 16, 2022)
8-81693702-C-T		not specified	Uncertain significance (Aug 24, 2022)
8-81693710-C-A		not specified	Uncertain significance (Sep 29, 2023)
8-81693711-T-C		not specified	Uncertain significance (Dec 07, 2021)
8-81693747-C-A		not specified	Uncertain significance (May 23, 2023)
8-81693763-C-A		not specified	Uncertain significance (Sep 01, 2021)
8-81693826-C-T		not specified	Likely benign (Mar 31, 2024)
8-81693840-A-G		not specified	Uncertain significance (Jun 17, 2024)
8-81693891-G-A		not specified	Uncertain significance (Aug 12, 2021)
8-81693910-C-G		not specified	Uncertain significance (Nov 18, 2023)
8-81693945-A-T		not specified	Uncertain significance (Jan 16, 2024)
8-81694027-C-T		not specified	Uncertain significance (Dec 09, 2023)
8-81694028-G-C		not specified	Uncertain significance (Aug 04, 2023)
8-81694050-G-A		not specified	Uncertain significance (Jan 29, 2024)
8-81694058-T-C		not specified	Uncertain significance (Nov 15, 2021)
8-81694070-G-C		not specified	Uncertain significance (Jul 06, 2021)
8-81694098-T-C		not specified	Uncertain significance (Aug 03, 2022)
8-81694188-C-A		not specified	Uncertain significance (May 03, 2023)
8-81694203-T-C		not specified	Uncertain significance (Jun 23, 2023)
8-81694215-T-C		not specified	Uncertain significance (Mar 31, 2022)
8-81694224-A-G		not specified	Uncertain significance (Dec 27, 2023)
8-81694233-A-G		not specified	Uncertain significance (Sep 16, 2021)
8-81694272-A-G		not specified	Uncertain significance (Apr 20, 2023)
8-81694317-C-T		not specified	Uncertain significance (Sep 06, 2022)
8-81694350-C-A		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC10A5	protein_coding	protein_coding	ENST00000518568	1	2568

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.70e-8	0.0981	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.154	226	220	1.03	0.0000101	2844
Missense in Polyphen		63	50.402	1.25		669
Synonymous	-0.151	86	84.2	1.02	0.00000425	901
Loss of Function	-0.417	10	8.67	1.15	3.59e-7	145

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	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.907
• rvis_EVS: 0.95
• rvis_percentile_EVS: 90.06

Haploinsufficiency Scores

• pHI: 0.244
• hipred: N
• hipred_score: 0.146
• ghis: 0.451

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0127

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Slc10a5

Gene ontology

• Biological process: sodium ion transport;transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: symporter activity