MTFP1

mitochondrial fission process 1

Basic information

Region (hg38): 22:30425623-30429054

Links

ENSG00000242114 ∙ NCBI:51537 ∙ OMIM:610235 ∙ HGNC:26945 ∙ Uniprot:Q9UDX5 ∙ 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 MTFP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTFP1 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			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	6	1	1

Variants in MTFP1

This is a list of pathogenic ClinVar variants found in the MTFP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-30425904-G-A		not specified	Uncertain significance (Oct 17, 2023)
22-30425920-A-G		not specified	Uncertain significance (Jun 29, 2023)
22-30426803-G-T		not specified	Uncertain significance (Apr 15, 2024)
22-30426831-A-G		not specified	Uncertain significance (Apr 12, 2022)
22-30427161-C-T			Benign (Mar 28, 2018)
22-30427198-G-A		not specified	Likely benign (Nov 09, 2021)
22-30427280-G-A		not specified	Uncertain significance (Apr 25, 2022)
22-30428462-G-A		not specified	Likely benign (May 30, 2024)
22-30428508-A-G		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTFP1	protein_coding	protein_coding	ENST00000266263	4	3528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00795	0.800	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0570	98	99.6	0.984	0.00000611	1036
Missense in Polyphen		38	35.119	1.0821		354
Synonymous	-0.265	44	41.8	1.05	0.00000247	375
Loss of Function	1.01	4	6.86	0.583	2.94e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000880	0.0000879
Middle Eastern	0.000163	0.000163
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function induces the release of cytochrome c, which activates the caspase cascade and leads to apoptosis. {ECO:0000269|PubMed:15155745, ECO:0000269|PubMed:15985469}.

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.231
• ghis: 0.545

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Mouse Genome Informatics

• Gene name: Mtfp1

Gene ontology

• Biological process: mitochondrial fission;apoptotic process;response to muscle activity
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane