SLC25A47

solute carrier family 25 member 47, the group of Solute carrier family 25

Basic information

Region (hg38): 14:100323339-100330421

Previous symbols: [ "C14orf68" ]

Links

ENSG00000140107 ∙ NCBI:283600 ∙ OMIM:609911 ∙ HGNC:20115 ∙ Uniprot:Q6Q0C1 ∙ 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 SLC25A47 gene.

• not_specified (68 variants)
• not_provided (4 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A47 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207117.4. 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				2		2
missense			65	6		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A47	protein_coding	protein_coding	ENST00000361529	6	7042

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.22e-15	0.00489	125645	0	102	125747	0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.377	213	229	0.930	0.0000172	1912
Missense in Polyphen		96	94.539	1.0155		862
Synonymous	-0.910	114	102	1.11	0.00000791	689
Loss of Function	-0.614	20	17.2	1.16	0.00000108	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00124	0.00121
Ashkenazi Jewish	0.00	0.00
East Asian	0.00158	0.00158
Finnish	0.00	0.00
European (Non-Finnish)	0.000246	0.000237
Middle Eastern	0.00158	0.00158
South Asian	0.000636	0.000621
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Uncoupling protein which may catalyze the physiological 'proton leak' in liver. Overexpression induces the dissipation of mitochondrial membrane potential. {ECO:0000269|PubMed:15322095}.

Recessive Scores

• pRec: 0.0892

Intolerance Scores

• rvis_EVS: 0.47
• rvis_percentile_EVS: 78.8

Haploinsufficiency Scores

• pHI: 0.124
• hipred: N
• hipred_score: 0.197
• 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

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

Mouse Genome Informatics

• Gene name: Slc25a47

Gene ontology

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