SLC16A10

solute carrier family 16 member 10, the group of Solute carrier family 16

Basic information

Region (hg38): 6:111087503-111231194

Links

ENSG00000112394

∙ NCBI:117247 ∙ OMIM:607550 ∙ HGNC:17027 ∙ Uniprot:Q8TF71 ∙ 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 SLC16A10 gene.

not_specified (55 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018593.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	2 clinvar	4
missense			51 clinvar	4 clinvar		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	6	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A10	protein_coding	protein_coding	ENST00000368851	6	143617

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.309	0.691	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	190	271	0.702	0.0000134	3350
Missense in Polyphen		72	126.64	0.56854		1474
Synonymous	1.42	83	101	0.820	0.00000522	1064
Loss of Function	2.93	4	17.0	0.235	9.03e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000408	0.000408
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000888	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000674	0.0000653
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Sodium-independent transporter that mediates the uptake of aromatic acids. Can function as a net efflux pathway for aromatic amino acids in the basosolateral epithelial cells (By similarity). {ECO:0000250, ECO:0000269|PubMed:11827462}.;
Pathway: Protein digestion and absorption - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Tyrosine metabolism;Biopterin metabolism;Amino acid transport across the plasma membrane;Amino acid and oligopeptide SLC transporters;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Tryptophan metabolism (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.417
rvis_EVS: -0.05
rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

pHI: 0.0808
hipred: Y
hipred_score: 0.637
ghis: 0.469

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0102

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Slc16a10
Phenotype: renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process: amino acid transmembrane transport;amino acid transport;aromatic amino acid transport;thyroid hormone transport
Cellular component: plasma membrane;integral component of plasma membrane;basolateral plasma membrane
Molecular function: amino acid transmembrane transporter activity;aromatic amino acid transmembrane transporter activity;thyroid hormone transmembrane transporter activity