SLC25A48

solute carrier family 25 member 48, the group of Solute carrier family 25

Basic information

Region (hg38): 5:135476913-135889770

Links

ENSG00000145832NCBI:153328OMIM:616150HGNC:30451Uniprot:Q6ZT89AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC25A48 gene.

  • not_specified (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A48 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001349336.2. 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
16
clinvar
2
clinvar
18
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 16 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC25A48protein_codingprotein_codingENST00000412661 553989
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001520.4451247520261247780.000104
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.787861090.7880.000007221023
Missense in Polyphen2838.4840.72758397
Synonymous0.6053944.10.8840.00000306318
Loss of Function0.23666.660.9012.83e-774

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001400.000123
Ashkenazi Jewish0.000.00
East Asian0.0005050.000445
Finnish0.0001710.000139
European (Non-Finnish)0.0001180.000106
Middle Eastern0.0005050.000445
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
0.53
rvis_percentile_EVS
80.73

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.440
ghis
0.409

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slc25a48
Phenotype

Gene ontology

Biological process
acyl carnitine transport;acyl carnitine transmembrane transport
Cellular component
mitochondrial inner membrane;integral component of membrane
Molecular function
protein binding;acyl carnitine transmembrane transporter activity