SLC25A14

solute carrier family 25 member 14, the group of Solute carrier family 25

Basic information

Region (hg38): X:130339888-130373361

Links

ENSG00000102078

∙ NCBI:9016 ∙ OMIM:300242 ∙ HGNC:10984 ∙ Uniprot:O95258 ∙ 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 SLC25A14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A14 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in SLC25A14

This is a list of pathogenic ClinVar variants found in the SLC25A14 region.

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

Position	Phenotype	Significance	ClinVar
X-130349297-A-G		Uncertain significance (Apr 13, 2023)	2572328
X-130359090-T-C	EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)	2681550
X-130359121-C-G	EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)	2681551

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A14	protein_coding	protein_coding	ENST00000218197	10	33462

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.988	0.0118	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.50	53	135	0.394	0.0000106	2124
Missense in Polyphen		8	51.033	0.15676		813
Synonymous	0.610	41	46.3	0.886	0.00000365	635
Loss of Function	3.39	0	13.4	0.00	0.00000104	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Participates in the mitochondrial proton leak measured in brain mitochondria.;
Pathway: Electron Transport Chain;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;The fatty acid cycling model;The proton buffering model;Mitochondrial Uncoupling Proteins;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

pRec: 0.129

Intolerance Scores

loftool
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.576
hipred: Y
hipred_score: 0.662
ghis: 0.638

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.475

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Slc25a14
Phenotype

Gene ontology

Biological process: mitochondrial transport;sulfate transport;aerobic respiration;thiosulfate transport;oxaloacetate transport;phosphate ion transmembrane transport;succinate transmembrane transport;malate transmembrane transport;oxaloacetate(2-) transmembrane transport;sulfate transmembrane transport;proton transmembrane transport
Cellular component: mitochondrion;mitochondrial inner membrane;integral component of plasma membrane
Molecular function: sulfate transmembrane transporter activity;thiosulfate transmembrane transporter activity;oxaloacetate transmembrane transporter activity;malate transmembrane transporter activity;succinate transmembrane transporter activity;antiporter activity