MARCHF11

membrane associated ring-CH-type finger 11, the group of Ring finger proteins|Membrane associated ring-CH-type fingers

Basic information

Region (hg38): 5:16067139-16180762

Previous symbols: [ "MARCH11" ]

Links

ENSG00000183654 ∙ NCBI:441061 ∙ OMIM:613338 ∙ HGNC:33609 ∙ Uniprot:A6NNE9 ∙ 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 MARCHF11 gene.

• not_specified (68 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCHF11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001102562.3. 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			68	1		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCHF11	protein_coding	protein_coding	ENST00000332432	4	113624

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00311	0.951	124621	0	16	124637	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	80	132	0.606	0.00000673	2550
Missense in Polyphen		21	50.772	0.41361		711
Synonymous	-0.757	55	48.3	1.14	0.00000225	827
Loss of Function	1.74	6	12.7	0.472	7.11e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000130	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000556
Finnish	0.000187	0.000186
European (Non-Finnish)	0.0000713	0.0000708
Middle Eastern	0.0000558	0.0000556
South Asian	0.0000337	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that mediates polyubiquitination of CD4. 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. May play a role in ubuquitin-dependent protein sorting in developmenting spermatids. {ECO:0000250|UniProtKB:A6P320}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.227
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.438

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: March11
• Phenotype: normal phenotype

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: integral component of membrane;cytoplasmic vesicle membrane
• Molecular function: zinc ion binding;transferase activity