SLC25A43
protein-codingsolute carrier family 25 member 43, the group of Solute carrier family 25
Gene summary
This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~55.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SLC25A43 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_145305.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | 1 | 12 | |||
| missense | 57 | 2 | 59 | |||
| nonsense | 3 | 3 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 74 | 3 | 0 | 77 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_660348.2 | 5 | MANE Select | |
| Ensembl | ENSP00000217909.7 | 5 | MANE Select | |
| Ensembl | ENSP00000563029.1 | 5 | Standard | |
| Ensembl | ENSP00000563029.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- transmembrane transport
Molecular Function
- transmembrane transporter activity
Cellular Component
- mitochondrial inner membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000217909
- Coding exons
- 5
- Length
- 55419
- Individuals with no LoFs
- 125716
- Homozygous LoFs
- 14
- Heterozygous LoFs
- 16
- Defined
- 125746
- p
- 0.000119
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.25 | 68 | 104 | 0.656 | 0.00000754 | 2163 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00014 | 0.00011 | rare |
| Finnish | 0.00025 | 0.00018 | rare |
| European (Non-Finnish) | 0.00028 | 0.00020 | rare |
| South Asian | 0.000052 | 0.000033 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.463
- RVIS EVS
- 0.28
- RVIS percentile EVS
- 71.08
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |