SLC25A43

solute carrier family 25 member 43, the group of Solute carrier family 25

Basic information

Region (hg38): X:119399336-119454478

Links

ENSG00000077713 ∙ NCBI:203427 ∙ OMIM:300641 ∙ HGNC:30557 ∙ Uniprot:Q8WUT9 ∙ 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 SLC25A43 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A43 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	0

Variants in SLC25A43

This is a list of pathogenic ClinVar variants found in the SLC25A43 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-119399420-G-T		not specified	Uncertain significance (Apr 22, 2024)
X-119399458-G-T		not specified	Uncertain significance (Jul 12, 2022)
X-119399460-T-C		SLC25A43-related disorder	Benign (Oct 28, 2019)
X-119399518-C-G		not specified	Uncertain significance (Jan 28, 2025)
X-119399522-C-T		not specified	Uncertain significance (Feb 15, 2023)
X-119399537-T-C		not specified	Uncertain significance (Nov 09, 2023)
X-119399570-G-A		not specified	Uncertain significance (Jan 09, 2024)
X-119399587-G-A		not specified	Uncertain significance (Aug 01, 2024)
X-119399627-C-T		not specified	Uncertain significance (Dec 03, 2021)
X-119406462-T-C		not specified	Uncertain significance (Apr 13, 2022)
X-119406512-A-G		SLC25A43-related disorder	Likely benign (Jun 15, 2022)
X-119406525-G-T		not specified	Uncertain significance (Mar 05, 2024)
X-119406530-G-A		not specified	Uncertain significance (Feb 16, 2023)
X-119410205-C-T		not specified	Uncertain significance (Jan 29, 2024)
X-119410222-G-A		not specified	Uncertain significance (Aug 04, 2024)
X-119410252-G-A		not specified	Uncertain significance (Apr 19, 2023)
X-119410273-C-T		not specified	Uncertain significance (Jun 26, 2024)
X-119410312-G-A		not specified	Uncertain significance (May 23, 2024)
X-119410341-G-T		not specified	Likely benign (Jan 18, 2025)
X-119410344-C-T		SLC25A43-related disorder	Likely benign (Aug 08, 2019)
X-119410345-G-A		not specified	Uncertain significance (Mar 08, 2025)
X-119452079-G-A		not specified	Uncertain significance (Oct 04, 2024)
X-119452109-G-A		not specified	Uncertain significance (Jun 25, 2024)
X-119452127-C-T		not specified	Uncertain significance (May 26, 2023)
X-119452893-G-T		not specified	Uncertain significance (Jun 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A43	protein_coding	protein_coding	ENST00000217909	5	55419

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0896	0.874	125716	14	16	125746	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	68	104	0.656	0.00000754	2163
Missense in Polyphen		23	38.601	0.59584		793
Synonymous	0.582	39	43.9	0.888	0.00000339	725
Loss of Function	1.79	3	8.69	0.345	6.80e-7	146

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000144	0.000109
Finnish	0.000250	0.000185
European (Non-Finnish)	0.000282	0.000202
Middle Eastern	0.000144	0.000109
South Asian	0.0000525	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.463
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.0695
• hipred: N
• hipred_score: 0.253
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a43

Gene ontology

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