SLC22A10

solute carrier family 22 member 10, the group of Solute carrier family 22

Basic information

Region (hg38): 11:63268022-63311783

Links

ENSG00000184999 ∙ NCBI:387775 ∙ OMIM:607580 ∙ HGNC:18057 ∙ Uniprot:Q63ZE4 ∙ 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 SLC22A10 gene.

• not_specified (75 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039752.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			71	4		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC22A10	protein_coding	protein_coding	ENST00000332793	10	231852

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.89e-19	0.000890	30557	34513	60668	125738	0.507

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.835	339	298	1.14	0.0000154	3493
Missense in Polyphen		71	67.807	1.0471		862
Synonymous	-2.07	133	106	1.26	0.00000521	1124
Loss of Function	-0.546	27	24.1	1.12	0.00000132	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.803	0.804
Ashkenazi Jewish	0.448	0.447
East Asian	0.422	0.420
Finnish	0.606	0.603
European (Non-Finnish)	0.576	0.569
Middle Eastern	0.422	0.420
South Asian	0.452	0.445
Other	0.531	0.526

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.700
• rvis_EVS: 1.85
• rvis_percentile_EVS: 97.12

Haploinsufficiency Scores

• pHI: 0.0259
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0699

Gene Damage Prediction

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

Gene ontology

• Biological process: transmembrane transport
• Cellular component: integral component of membrane
• Molecular function: transmembrane transporter activity