SLC25A17

solute carrier family 25 member 17, the group of Solute carrier family 25|MicroRNA protein coding host genes

Basic information

Region (hg38): 22:40769630-40819399

Links

ENSG00000100372 ∙ NCBI:10478 ∙ OMIM:606795 ∙ HGNC:10987 ∙ Uniprot:O43808 ∙ 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 SLC25A17 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A17 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006358.4. 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			42	2		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A17	protein_coding	protein_coding	ENST00000435456	9	49770

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000275	0.934	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.538	152	172	0.885	0.00000929	1968
Missense in Polyphen		59	67.974	0.86798		819
Synonymous	0.349	59	62.5	0.944	0.00000312	628
Loss of Function	1.70	10	17.8	0.563	9.82e-7	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000326	0.000325
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000786	0.000786
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000218	0.000217
South Asian	0.000101	0.0000980
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'- diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter- exchange mechanism. Inhibited by pyridoxal 5'-phosphate and bathophenanthroline in vitro. {ECO:0000269|PubMed:12445829, ECO:0000269|PubMed:22185573}.
• Pathway: Peroxisome - Homo sapiens (human);Metabolism of lipids;Alpha-oxidation of phytanate;Purine metabolism;Peroxisomal lipid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.574
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.106
• hipred: Y
• hipred_score: 0.505
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.857

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a17

Gene ontology

• Biological process: fatty acid alpha-oxidation;fatty acid beta-oxidation;ADP transport;ATP transport;fatty acid transport;coenzyme A transmembrane transport;FAD transmembrane transport;NAD transmembrane transport;AMP transport
• Cellular component: peroxisome;peroxisomal membrane;integral component of peroxisomal membrane;membrane
• Molecular function: adenine nucleotide transmembrane transporter activity;ATP transmembrane transporter activity;protein binding;ADP transmembrane transporter activity;coenzyme A transmembrane transporter activity;FAD transmembrane transporter activity;FMN transmembrane transporter activity;chaperone binding;NAD transmembrane transporter activity;AMP transmembrane transporter activity