SLC25A41

solute carrier family 25 member 41, the group of Solute carrier family 25

Basic information

Region (hg38): 19:6426037-6433779

Links

ENSG00000181240 ∙ NCBI:284427 ∙ OMIM:610822 ∙ HGNC:28533 ∙ Uniprot:Q8N5S1 ∙ 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 SLC25A41 gene.

• not_specified (75 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A41 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173637.4. 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						0
missense			71	4		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	71	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A41	protein_coding	protein_coding	ENST00000321510	7	7743

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.86e-12	0.0356	124354	1	732	125087	0.00293

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.179	236	228	1.03	0.0000141	2345
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0216	0.0210
Ashkenazi Jewish	0.00	0.00
East Asian	0.000169	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.000351	0.000344
Middle Eastern	0.000169	0.000167
South Asian	0.0111	0.0108
Other	0.000668	0.000657

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.512
• rvis_EVS: 1.42
• rvis_percentile_EVS: 94.93

Haploinsufficiency Scores

• pHI: 0.0969
• hipred: N
• hipred_score: 0.180
• ghis: 0.440

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.141

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a41

Gene ontology

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