SLC25A51

solute carrier family 25 member 51, the group of Solute carrier family 25

Basic information

Region (hg38): 9:37879400-37904353

Previous symbols: [ "MCART1" ]

Links

ENSG00000122696 ∙ NCBI:92014 ∙ OMIM:619153 ∙ HGNC:23323 ∙ Uniprot:Q9H1U9 ∙ 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 SLC25A51 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A51 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in SLC25A51

This is a list of pathogenic ClinVar variants found in the SLC25A51 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-37887879-C-A		not specified	Uncertain significance (Dec 14, 2022)
9-37888006-C-T		not specified	Uncertain significance (Jul 11, 2023)
9-37888010-A-G		not specified	Uncertain significance (Oct 29, 2021)
9-37888054-C-T		not specified	Uncertain significance (Oct 05, 2021)
9-37888193-T-C		not specified	Uncertain significance (Oct 06, 2022)
9-37888226-G-A		not specified	Uncertain significance (Feb 13, 2023)
9-37888286-T-A		not specified	Uncertain significance (Nov 14, 2023)
9-37888307-G-A		not specified	Uncertain significance (Sep 07, 2022)
9-37888318-C-T		not specified	Uncertain significance (Mar 26, 2024)
9-37888355-G-A		not specified	Uncertain significance (Feb 06, 2024)
9-37888472-T-C		not specified	Uncertain significance (Jan 30, 2024)
9-37888488-T-C		not specified	Uncertain significance (Apr 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A51	protein_coding	protein_coding	ENST00000377716	1	24951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00328	0.840	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.00	93	165	0.563	0.00000916	1945
Missense in Polyphen		15	50.304	0.29819		636
Synonymous	0.481	56	60.8	0.921	0.00000324	610
Loss of Function	1.18	5	8.77	0.570	6.51e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000163	0.000163
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.260
• hipred: N
• hipred_score: 0.269
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a51

Gene ontology

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