SLC16A14

solute carrier family 16 member 14, the group of Solute carrier family 16

Basic information

Region (hg38): 2:230034982-230068993

Links

ENSG00000163053 ∙ NCBI:151473 ∙ ∙ HGNC:26417 ∙ Uniprot:Q7RTX9 ∙ 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 SLC16A14 gene.

• not_specified (47 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC16A14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152527.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			46	1		47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC16A14	protein_coding	protein_coding	ENST00000295190	4	34018

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0131	0.981	125718	0	28	125746	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	220	312	0.705	0.0000181	3343
Missense in Polyphen		92	148.92	0.61778		1660
Synonymous	-0.298	142	138	1.03	0.00000978	1031
Loss of Function	2.39	6	16.5	0.364	7.65e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000247	0.000247
Ashkenazi Jewish	0.000314	0.000298
East Asian	0.0000591	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.0000591	0.0000544
South Asian	0.000170	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane. {ECO:0000250}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.248
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.51

Haploinsufficiency Scores

• pHI: 0.123
• hipred: Y
• hipred_score: 0.699
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0910

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc16a14

Gene ontology

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