MARCHF10

membrane associated ring-CH-type finger 10, the group of Membrane associated ring-CH-type fingers|Ring finger proteins

Basic information

Region (hg38): 17:62701314-62808344

Previous symbols: [ "RNF190", "MARCH10" ]

Links

ENSG00000173838 ∙ NCBI:162333 ∙ OMIM:613337 ∙ HGNC:26655 ∙ Uniprot:Q8NA82 ∙ 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 MARCHF10 gene.

• not_specified (91 variants)
• MARCHF10-related_disorder (23 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCHF10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152598.4. 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				5	5	10
missense			81	14	8	103
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	19	13

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCHF10	protein_coding	protein_coding	ENST00000311269	10	107031

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.30e-24	0.000266	125594	1	153	125748	0.000613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.702	374	414	0.903	0.0000214	5319
Missense in Polyphen		61	77.306	0.78907		1059
Synonymous	-0.755	176	164	1.08	0.00000935	1528
Loss of Function	-0.269	35	33.3	1.05	0.00000162	433

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000215	0.000214
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00610	0.00572
Finnish	0.000237	0.000231
European (Non-Finnish)	0.000207	0.000202
Middle Eastern	0.00610	0.00572
South Asian	0.000299	0.000294
Other	0.000844	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase (Probable). 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:0000305}.

Intolerance Scores

• loftool: 0.971
• rvis_EVS: 1.8
• rvis_percentile_EVS: 96.94

Haploinsufficiency Scores

• pHI: 0.0415
• hipred: N
• hipred_score: 0.123
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0392

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: March10

Gene ontology

• Biological process: protein ubiquitination
• Molecular function: protein binding;zinc ion binding;transferase activity