GeneBe

SLC25A31

solute carrier family 25 member 31, the group of Solute carrier family 25

Basic information

Region (hg38): 4:127730400-127774292

Links

ENSG00000151475 ∙ NCBI:83447 ∙ OMIM:610796 ∙ HGNC:25319 ∙ Uniprot:Q9H0C2 ∙ 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 SLC25A31 gene.

  • not_specified (34 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A31 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031291.4. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
34
clinvar
 34
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 34 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC25A31protein_codingprotein_codingENST00000281154 643916
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.32e-100.14312558201661257480.000660
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6311681930.8720.00001192026
Missense in Polyphen6579.5480.81711873
Synonymous1.355872.60.7980.00000457641
Loss of Function0.3731516.60.9010.00000106180

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006630.000661
Ashkenazi Jewish0.0002070.000198
East Asian0.0002770.000272
Finnish0.0001400.000139
European (Non-Finnish)0.0001370.000132
Middle Eastern0.0002770.000272
South Asian0.004070.00406
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May serve to mediate energy generating and energy consuming processes in the distal flagellum, possibly as a nucleotide shuttle between flagellar glycolysis, protein phosphorylation and mechanisms of motility. {ECO:0000269|PubMed:17137571}.;
Pathway
Huntington,s disease - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Necroptosis - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.126

Intolerance Scores

loftool
0.584
rvis_EVS
-0.14
rvis_percentile_EVS
43.57

Haploinsufficiency Scores

pHI
0.380
hipred
N
hipred_score
0.327
ghis
0.430

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.605

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc25a31
Phenotype
reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process
ADP transport;ATP transport;transmembrane transport
Cellular component
nucleus;mitochondrion;mitochondrial inner membrane;integral component of membrane;motile cilium
Molecular function
ATP:ADP antiporter activity