MTCH1

mitochondrial carrier 1, the group of Solute carrier family 25

Basic information

Region (hg38): 6:36965807-36986298

Links

ENSG00000137409 ∙ NCBI:23787 ∙ OMIM:610449 ∙ HGNC:17586 ∙ Uniprot:Q9NZJ7 ∙ 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 MTCH1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTCH1 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			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	0

Variants in MTCH1

This is a list of pathogenic ClinVar variants found in the MTCH1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-36970045-A-C		not specified	Uncertain significance (Jun 02, 2023)
6-36970449-G-A		not specified	Uncertain significance (Jun 07, 2023)
6-36972725-T-C		not specified	Uncertain significance (Jan 22, 2024)
6-36975706-C-A		not specified	Uncertain significance (Jan 03, 2024)
6-36978584-T-C		not specified	Uncertain significance (Dec 06, 2021)
6-36981638-G-A		not specified	Uncertain significance (Dec 27, 2022)
6-36985882-G-A		not specified	Uncertain significance (Oct 05, 2023)
6-36985963-C-T		not specified	Uncertain significance (May 21, 2024)
6-36986040-G-A		not specified	Uncertain significance (Dec 01, 2022)
6-36986098-C-A		not specified	Uncertain significance (Feb 07, 2023)
6-36986127-G-C		not specified	Uncertain significance (Oct 25, 2022)
6-36986131-C-A		not specified	Uncertain significance (Jul 25, 2023)
6-36986146-G-C		not specified	Uncertain significance (Mar 28, 2023)
6-36986154-T-A		not specified	Uncertain significance (Apr 25, 2022)
6-36986169-C-G		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTCH1	protein_coding	protein_coding	ENST00000373616	12	18158

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.651	0.349	125738	0	2	125740	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.45	100	197	0.509	0.0000109	2351
Missense in Polyphen		23	60.075	0.38285		688
Synonymous	1.22	64	77.6	0.824	0.00000395	781
Loss of Function	3.42	4	20.9	0.192	0.00000115	226

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential mitochondrial transporter. May play a role in apoptosis. {ECO:0000269|PubMed:12377771}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.318
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.157
• hipred: Y
• hipred_score: 0.783
• ghis: 0.508

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.665

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtch1

Gene ontology

• Biological process: apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;regulation of signal transduction;positive regulation of apoptotic process;neuronal ion channel clustering
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane
• Molecular function: protein binding