SLC25A35

solute carrier family 25 member 35, the group of Solute carrier family 25

Basic information

Region (hg38): 17:8287763-8295400

Links

ENSG00000125434 ∙ NCBI:399512 ∙ OMIM:610818 ∙ HGNC:31921 ∙ Uniprot:Q3KQZ1 ∙ 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 SLC25A35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A35 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			3	2	1	6
missense			23	4		27
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			2	3		5
non coding			69	56	9	134
Total	0	0	95	63	10

Variants in SLC25A35

This is a list of pathogenic ClinVar variants found in the SLC25A35 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8288380-G-A			Likely benign (Jul 05, 2018)
17-8288435-GTCAA-G			Likely benign (Mar 04, 2020)
17-8288435-G-GTCAA			Likely benign (Sep 23, 2019)
17-8288620-C-T			Benign (Jun 27, 2018)
17-8288633-A-G			Benign (Jun 27, 2018)
17-8288744-A-C		not specified	Likely benign (Dec 22, 2016)
17-8288770-A-C		not specified	Likely benign (Jan 11, 2017)
17-8288787-C-T			Likely benign (Oct 24, 2022)
17-8288790-T-A		Cardiac arrhythmia	Uncertain significance (Jun 01, 2021)
17-8288793-A-G		Cardiac arrhythmia	Uncertain significance (Oct 22, 2023)
17-8288799-C-G		Cardiac arrhythmia	Uncertain significance (Jul 25, 2022)
17-8288799-CGA-C		Cardiac arrhythmia	Uncertain significance (Mar 03, 2023)
17-8288800-G-A		Cardiac arrhythmia	Likely benign (Jul 07, 2023)
17-8288802-G-A		not specified	Uncertain significance (Aug 17, 2024)
17-8288808-G-T		Cardiac arrhythmia	Uncertain significance (Apr 16, 2023)
17-8288809-C-T		Cardiac arrhythmia	Likely benign (Jun 14, 2022)
17-8288815-G-C		Cardiac arrhythmia	Likely benign (Jan 24, 2024)
17-8288823-G-A		Cardiac arrhythmia	Uncertain significance (Jul 05, 2022)
17-8288838-T-A		Cardiac arrhythmia	Uncertain significance (Nov 27, 2023)
17-8288840-C-A		Cardiac arrhythmia	Uncertain significance (Sep 24, 2020)
17-8288840-C-T		Cardiac arrhythmia	Uncertain significance (Jan 02, 2024)
17-8288845-C-T		Cardiac arrhythmia	Likely benign (Dec 31, 2023)
17-8288846-A-T		Cardiac arrhythmia	Uncertain significance (Dec 28, 2018)
17-8288847-T-C		Cardiac arrhythmia	Uncertain significance (Mar 07, 2021)
17-8288847-T-TG		Cardiac arrhythmia	Uncertain significance (Sep 10, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A35	protein_coding	protein_coding	ENST00000380067	6	7581

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.85e-8	0.245	125688	0	59	125747	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.270	164	174	0.942	0.00000941	1886
Missense in Polyphen		76	76.165	0.99783		828
Synonymous	0.0301	74	74.3	0.996	0.00000426	635
Loss of Function	0.482	13	15.0	0.866	8.97e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000304	0.000304
Ashkenazi Jewish	0.00	0.00
East Asian	0.000870	0.000870
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000231	0.000229
Middle Eastern	0.000870	0.000870
South Asian	0.000163	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.659
• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

• pHI: 0.140
• hipred: N
• hipred_score: 0.144
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.202

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a35

Gene ontology

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