SLC16A6

solute carrier family 16 member 6, the group of Solute carrier family 16

Basic information

Region (hg38): 17:68267025-68291267

Links

ENSG00000108932 ∙ NCBI:9120 ∙ OMIM:603880 ∙ HGNC:10927 ∙ Uniprot:O15403 ∙ 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 SLC16A6 gene.

• Inborn genetic diseases (16 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A6 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				1	2	3
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	2

Variants in SLC16A6

This is a list of pathogenic ClinVar variants found in the SLC16A6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-68269116-C-T		not specified	Likely benign (Oct 05, 2022)
17-68269191-G-A		not specified	Uncertain significance (Jan 17, 2024)
17-68270850-G-A		not specified	Uncertain significance (Jul 13, 2021)
17-68271064-C-T		not specified	Uncertain significance (Jan 24, 2024)
17-68271216-A-C		not specified	Uncertain significance (Aug 21, 2023)
17-68271229-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-68271256-G-T		not specified	Uncertain significance (Aug 17, 2022)
17-68271344-G-C			Benign (Dec 31, 2019)
17-68271426-G-A		not specified	Uncertain significance (Dec 06, 2021)
17-68271465-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-68271484-G-C		not specified	Uncertain significance (Nov 15, 2021)
17-68271495-G-A		not specified	Likely benign (Feb 28, 2024)
17-68271504-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-68271513-T-C		not specified	Uncertain significance (Mar 01, 2023)
17-68271579-A-C		not specified	Uncertain significance (Oct 12, 2022)
17-68271583-T-C		not specified	Uncertain significance (Sep 27, 2021)
17-68271593-T-C			Benign (Apr 04, 2018)
17-68271611-G-A			Likely benign (Dec 01, 2022)
17-68272660-C-T		not specified	Uncertain significance (Sep 26, 2022)
17-68272683-A-G		not specified	Uncertain significance (Mar 01, 2023)
17-68272761-C-T		not specified	Uncertain significance (Mar 01, 2024)
17-68273945-C-T		not specified	Likely benign (Jan 23, 2024)
17-68273953-A-G		not specified	Uncertain significance (Dec 17, 2023)
17-68273969-G-T		not specified	Uncertain significance (Oct 10, 2023)
17-68274038-C-T		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A6	protein_coding	protein_coding	ENST00000327268	5	24242

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00191	0.978	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	211	301	0.701	0.0000172	3399
Missense in Polyphen		62	122.45	0.50635		1448
Synonymous	-0.400	124	118	1.05	0.00000755	1067
Loss of Function	2.04	7	15.7	0.445	7.65e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000163	0.000163
Finnish	0.000879	0.000878
European (Non-Finnish)	0.0000528	0.0000439
Middle Eastern	0.000163	0.000163
South Asian	0.000166	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.532
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.69

Haploinsufficiency Scores

• pHI: 0.252
• hipred: Y
• hipred_score: 0.725
• ghis: 0.482

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.455

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a6

Zebrafish Information Network

• Gene name: slc16a6a
• Affected structure: hepatocyte
• Phenotype tag: abnormal
• Phenotype quality: increased amount

Gene ontology

• Biological process: monocarboxylic acid transport;transmembrane transport
• Cellular component: integral component of plasma membrane;membrane
• Molecular function: monocarboxylic acid transmembrane transporter activity;symporter activity