MARCHF7

membrane associated ring-CH-type finger 7, the group of Ring finger proteins|Membrane associated ring-CH-type fingers

Basic information

Region (hg38): 2:159712457-159771027

Previous symbols: [ "AXOT", "MARCH7" ]

Links

ENSG00000136536

∙ NCBI:64844 ∙ OMIM:613334 ∙ HGNC:17393 ∙ Uniprot:Q9H992 ∙ 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 MARCHF7 gene.

not_specified (83 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCHF7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001282805.2. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			80 clinvar	3 clinvar		83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	80	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCHF7	protein_coding	protein_coding	ENST00000259050	9	58539

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.662	0.338	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.236	348	361	0.965	0.0000181	4526
Missense in Polyphen		148	155.48	0.95191		1966
Synonymous	-0.0579	133	132	1.01	0.00000664	1384
Loss of Function	4.31	7	34.2	0.205	0.00000197	444

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.00	0.00
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase which may specifically enhance the E2 activity of HIP2. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. {ECO:0000269|PubMed:16868077}.;

Recessive Scores

pRec: 0.244

Intolerance Scores

loftool: 0.472
rvis_EVS: 0.73
rvis_percentile_EVS: 86.3

Haploinsufficiency Scores

pHI: 0.245
hipred: Y
hipred_score: 0.530
ghis: 0.528

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.921

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: March7
Phenotype: homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: regulation of tolerance induction;positive regulation of cell population proliferation;negative regulation of T cell proliferation;negative regulation of DNA damage response, signal transduction by p53 class mediator;protein stabilization;protein autoubiquitination;negative regulation of proteasomal protein catabolic process;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;positive regulation of protein polyubiquitination;negative regulation of protein autoubiquitination
Cellular component: nucleus;cytosol;plasma membrane
Molecular function: protein binding;zinc ion binding;transferase activity;ubiquitin conjugating enzyme binding;ubiquitin binding;MDM2/MDM4 family protein binding