SLC25A53

solute carrier family 25 member 53, the group of Solute carrier family 25

Basic information

Region (hg38): X:104099214-104157009

Previous symbols: [ "MCART6" ]

Links

ENSG00000269743 ∙ NCBI:401612 ∙ OMIM:300941 ∙ HGNC:31894 ∙ Uniprot:Q5H9E4 ∙ 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 SLC25A53 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A53 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			15	1		16
Total	0	0	31	1	0

Variants in SLC25A53

This is a list of pathogenic ClinVar variants found in the SLC25A53 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-104104356-C-A		not specified	Uncertain significance (Mar 01, 2023)
X-104104356-C-T		not specified	Uncertain significance (Aug 21, 2023)
X-104104362-T-A		not specified	Uncertain significance (May 15, 2023)
X-104104395-G-A		not specified	Uncertain significance (Jun 02, 2023)
X-104104506-A-G		not specified	Uncertain significance (Oct 12, 2024)
X-104104661-G-C		not specified	Uncertain significance (Mar 29, 2022)
X-104104672-T-G		not specified	Uncertain significance (Dec 21, 2022)
X-104104752-C-T		not specified	Uncertain significance (May 23, 2023)
X-104104782-T-C		not specified	Uncertain significance (Jan 22, 2024)
X-104104783-T-C		not specified	Uncertain significance (Apr 07, 2022)
X-104104870-C-T		not specified	Uncertain significance (Jan 31, 2024)
X-104104909-G-A		not specified	Uncertain significance (Jan 29, 2024)
X-104104914-C-G		not specified	Uncertain significance (Jan 23, 2023)
X-104104915-C-T		not specified	Uncertain significance (Jan 23, 2023)
X-104105080-T-C		not specified	Likely benign (May 09, 2024)
X-104105084-A-T		not specified	Uncertain significance (Apr 08, 2024)
X-104105098-G-A		not specified	Uncertain significance (Jan 23, 2024)
X-104105142-A-G		not specified	Uncertain significance (Apr 23, 2024)
X-104105152-C-T		not specified	Likely benign (May 15, 2024)
X-104105199-G-T		not specified	Uncertain significance (Sep 26, 2024)
X-104105218-G-A		not specified	Uncertain significance (May 23, 2024)
X-104105219-C-A		not specified	Uncertain significance (Nov 17, 2022)
X-104105235-G-T		not specified	Uncertain significance (Nov 17, 2023)
X-104114119-G-C		not specified	Uncertain significance (Mar 04, 2024)
X-104114197-T-C		not specified	Uncertain significance (Apr 13, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.26

Haploinsufficiency Scores

• pHI: 0.286
• hipred: N
• hipred_score: 0.339

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Slc25a53

Gene ontology

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