SLC25A27

solute carrier family 25 member 27, the group of Solute carrier family 25

Basic information

Region (hg38): 6:46652914-46678190

Links

ENSG00000153291 ∙ NCBI:9481 ∙ OMIM:613725 ∙ HGNC:21065 ∙ Uniprot:O95847 ∙ 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 SLC25A27 gene.

• Inborn genetic diseases (14 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A27 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					1	1
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	1

Variants in SLC25A27

This is a list of pathogenic ClinVar variants found in the SLC25A27 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-46653219-G-C		not specified	Uncertain significance (Jan 26, 2022)
6-46653248-G-A		not specified	Uncertain significance (Jul 14, 2023)
6-46655906-G-C		not specified	Uncertain significance (May 11, 2022)
6-46655909-T-C		not specified	Uncertain significance (Sep 27, 2022)
6-46655916-C-T			Benign (Dec 26, 2018)
6-46655962-C-G		not specified	Uncertain significance (Dec 15, 2022)
6-46655966-G-A		not specified	Uncertain significance (Sep 16, 2021)
6-46656016-G-T		not specified	Uncertain significance (Jul 09, 2021)
6-46659031-A-G		not specified	Uncertain significance (Jun 16, 2023)
6-46662386-A-T		not specified	Uncertain significance (May 03, 2023)
6-46670178-G-A		not specified	Uncertain significance (Dec 02, 2022)
6-46671128-G-A		not specified	Uncertain significance (Apr 06, 2022)
6-46671158-T-C		not specified	Uncertain significance (Dec 19, 2022)
6-46671160-A-G		not specified	Uncertain significance (Mar 02, 2023)
6-46671189-G-T		not specified	Uncertain significance (Dec 13, 2023)
6-46676395-A-G		not specified	Uncertain significance (Sep 14, 2023)
6-46676418-A-C		not specified	Uncertain significance (Feb 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A27	protein_coding	protein_coding	ENST00000371347	9	25253

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000269	0.997	124759	0	36	124795	0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	127	177	0.717	0.00000874	2065
Missense in Polyphen		36	68.305	0.52705		807
Synonymous	-1.13	74	62.6	1.18	0.00000316	633
Loss of Function	2.60	10	23.7	0.422	0.00000148	238

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000285	0.000283
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000198	0.000194
Middle Eastern	0.00	0.00
South Asian	0.000199	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: UCP are mitochondrial transporter proteins that create proton leaks across the inner mitochondrial membrane, thus uncoupling oxidative phosphorylation from ATP synthesis. As a result, energy is dissipated in the form of heat. May play a role in thermoregulatory heat production and metabolism in brain.
• Pathway: Electron Transport Chain;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;The fatty acid cycling model;The proton buffering model;Mitochondrial Uncoupling Proteins;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• loftool: 0.495
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.73

Haploinsufficiency Scores

• pHI: 0.138
• hipred: Y
• hipred_score: 0.605
• ghis: 0.496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.531

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a27

Gene ontology

• Biological process: positive regulation of cell population proliferation;response to cold;negative regulation of mitochondrial membrane potential;cellular triglyceride homeostasis;negative regulation of apoptotic process;regulation of glucose import;inner ear development;negative regulation of mitochondrial calcium ion concentration;neuron death;proton transmembrane transport
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane;mitochondrial membrane;neuronal cell body;apical part of cell
• Molecular function: transmembrane transporter activity