MARCHF5

membrane associated ring-CH-type finger 5, the group of Ring finger proteins|Membrane associated ring-CH-type fingers

Basic information

Region (hg38): 10:92291167-92353964

Previous symbols: [ "RNF153", "MARCH5" ]

Links

ENSG00000198060

∙ NCBI:54708 ∙ OMIM:610637 ∙ HGNC:26025 ∙ Uniprot:Q9NX47 ∙ 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 MARCHF5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCHF5 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in MARCHF5

This is a list of pathogenic ClinVar variants found in the MARCHF5 region.

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

Position	Phenotype	Significance	ClinVar
10-92311157-A-G	not specified	Uncertain significance (Dec 27, 2023)	3235490
10-92311274-A-G	not specified	Uncertain significance (Mar 20, 2024)	3293297
10-92349449-A-G	not specified	Uncertain significance (May 30, 2023)	3235489

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCHF5	protein_coding	protein_coding	ENST00000358935	6	62802

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.893	0.107	125724	0	3	125727	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	59	150	0.393	0.00000750	1800
Missense in Polyphen		4	40.473	0.098831		447
Synonymous	-0.0202	49	48.8	1.00	0.00000244	539
Loss of Function	3.25	2	16.1	0.125	9.17e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000298	0.0000298
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000343	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission. May play a role in the prevention of cell senescence acting as a regulator of mitochondrial quality control. Promotes ubiquitination of FIS1, DNM1L and MFN1. {ECO:0000269|PubMed:16874301, ECO:0000269|PubMed:17606867, ECO:0000269|PubMed:19741096, ECO:0000269|PubMed:20103533}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

loftool: 0.143
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.554
hipred: Y
hipred_score: 0.768
ghis: 0.632

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: E
gene_indispensability_pred: N
gene_indispensability_score: 0.342

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: March5
Phenotype: growth/size/body region phenotype;

Gene ontology

Biological process: protein polyubiquitination;protein autoubiquitination;protein localization to mitochondrion;regulation of mitochondrial fission;positive regulation of mitochondrial fission;negative regulation of cell aging
Cellular component: mitochondrion;mitochondrial outer membrane;endoplasmic reticulum;endoplasmic reticulum membrane;membrane;integral component of membrane
Molecular function: ubiquitin-protein transferase activity;protein binding;zinc ion binding;GTPase binding