SLC25A34

solute carrier family 25 member 34, the group of Solute carrier family 25

Basic information

Region (hg38): 1:15736258-15741392

Links

ENSG00000162461 ∙ NCBI:284723 ∙ OMIM:610817 ∙ HGNC:27653 ∙ Uniprot:Q6PIV7 ∙ 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 SLC25A34 gene.

• not_specified (58 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A34 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207348.3. 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						0
missense			52	6		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A34	protein_coding	protein_coding	ENST00000294454	5	4992

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.71e-7	0.405	125500	0	187	125687	0.000744

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.221	181	173	1.05	0.0000109	1877
Missense in Polyphen		74	77.947	0.94936		880
Synonymous	-0.231	79	76.4	1.03	0.00000491	685
Loss of Function	0.635	11	13.5	0.814	7.40e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000695	0.000691
Ashkenazi Jewish	0.00	0.00
East Asian	0.00261	0.00256
Finnish	0.000150	0.000139
European (Non-Finnish)	0.000789	0.000774
Middle Eastern	0.00261	0.00256
South Asian	0.000864	0.000850
Other	0.000680	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.532
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.26

Haploinsufficiency Scores

• pHI: 0.196
• hipred: N
• hipred_score: 0.251
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.288

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a34

Gene ontology

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