SLC25A41
protein-codingsolute carrier family 25 member 41, the group of Solute carrier family 25
Gene summary
SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~7.7 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 SLC25A41 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_173637.4. 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 | 0 | |||||
| missense | 80 | 4 | 84 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 81 | 4 | 0 | 85 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_775908.2 | 7 | MANE Select | |
| Ensembl | ENSP00000322649.5 | 7 | MANE Select | |
| RefSeq | NP_001308227.1 | 5 | Standard | |
| Ensembl | ENSP00000405411.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- ATP transport
- transmembrane transport
Molecular Function
- ATP transmembrane transporter activity
Cellular Component
- mitochondrial inner membrane
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000321510
- Coding exons
- 7
- Length
- 7743
- Individuals with no LoFs
- 124354
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 732
- Defined
- 125087
- p
- 0.00293
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.179 | 236 | 228 | 1.03 | 0.0000141 | 2345 |
| Missense (PolyPhen) | 89 | 87.87 | 1.0129 | 961 | ||
| Synonymous | 0.629 | 95 | 103 | 0.921 | 0.00000703 | 785 |
| Loss of Function | -0.0683 | 17 | 16.7 | 1.02 | 7.97e-7 | 184 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.020 | 0.020 | notable |
| Latino/Admixed American | 0.0013 | 0.0013 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00017 | 0.00017 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00035 | 0.00034 | rare |
| South Asian | 0.011 | 0.011 | notable |
| Other | 0.00067 | 0.00066 | rare |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- LoFtool
- 0.512
- RVIS EVS
- 1.42
- RVIS percentile EVS
- 94.93
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.141
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |