SLC25A45

solute carrier family 25 member 45, the group of Solute carrier family 25

Basic information

Region (hg38): 11:65375192-65383701

Links

ENSG00000162241 ∙ NCBI:283130 ∙ OMIM:610825 ∙ HGNC:27442 ∙ Uniprot:Q8N413 ∙ 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 SLC25A45 gene.

• not_specified (47 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A45 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182556.4. 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			44	2		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A45	protein_coding	protein_coding	ENST00000398802	6	8510

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.23e-7	0.385	124565	0	236	124801	0.000946

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.134	178	183	0.972	0.0000116	1839
Missense in Polyphen		71	77.592	0.91504		823
Synonymous	0.329	72	75.6	0.952	0.00000454	614
Loss of Function	0.600	11	13.4	0.823	7.55e-7	134

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00943	0.00945
Ashkenazi Jewish	0.000895	0.000894
East Asian	0.000445	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.000347	0.000344
Middle Eastern	0.000445	0.000445
South Asian	0.000229	0.000229
Other	0.000826	0.000825

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0696

Intolerance Scores

• loftool: 0.546
• rvis_EVS: 1.55
• rvis_percentile_EVS: 95.62

Haploinsufficiency Scores

• pHI: 0.0407
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00353

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a45

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