SLC26A10P

solute carrier family 26 member 10, pseudogene, the group of Solute carrier family 26

Basic information

Region (hg38): 12:57619527-57626036

Previous symbols: [ "SLC26A10" ]

Links

ENSG00000135502 ∙ NCBI:65012 ∙ ∙ HGNC:14470 ∙ Uniprot:Q8NG04 ∙ 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 SLC26A10P gene.

• not provided (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A10P 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	3		4
Total	0	0	1	3	0

Variants in SLC26A10P

This is a list of pathogenic ClinVar variants found in the SLC26A10P region.

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

Position	Type	Phenotype	Significance	ClinVar
12-57621734-C-T			Likely benign (Apr 10, 2018)
12-57624077-G-A		not specified	Conflicting classifications of pathogenicity (Nov 01, 2022)
12-57624885-T-G			Likely benign (Nov 01, 2022)
12-57625419-C-T		not specified	Uncertain significance (May 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC26A10P	protein_coding	protein_coding	ENST00000320442	14	6625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.10e-15	0.0156	122400	38	3310	125748	0.0134

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.208	291	301	0.966	0.0000154	3511
Missense in Polyphen		137	144.69	0.94688		1752
Synonymous	0.454	129	136	0.950	0.00000700	1249
Loss of Function	0.138	23	23.7	0.969	0.00000115	267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0770	0.0771
Ashkenazi Jewish	0.00478	0.00467
East Asian	0.00223	0.00223
Finnish	0.00583	0.00551
European (Non-Finnish)	0.0116	0.0115
Middle Eastern	0.00223	0.00223
South Asian	0.0105	0.0103
Other	0.0134	0.0133

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Chloride/bicarbonate exchanger. {ECO:0000250}.

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.201
• rvis_EVS: 2.22
• rvis_percentile_EVS: 98.16

Haploinsufficiency Scores

• pHI: 0.281
• hipred: N
• hipred_score: 0.238
• ghis: 0.388

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc26a10

Gene ontology

• Biological process: bicarbonate transport;oxalate transport;sulfate transmembrane transport;chloride transmembrane transport
• Cellular component: integral component of plasma membrane;basolateral plasma membrane
• Molecular function: secondary active sulfate transmembrane transporter activity;bicarbonate transmembrane transporter activity;chloride transmembrane transporter activity;sulfate transmembrane transporter activity;anion:anion antiporter activity;oxalate transmembrane transporter activity