MARCHF10

protein-coding

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

Gene summary

MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

Previous symbols:

RNF190
MARCH10

MANE transcript

NM_152598.4

Inheritance

—

ClinVar variants

U:102B:33

Top phenotype

MARCHF10-related disorder

gnomAD constraint

pLI —, LoF o/e 1.05

Max pathogenic AF

—

Genomic locus

chr17:62,701,314-62,808,344

External References & Databases

Ensembl (ENSG00000173838)

Transcript & Mutation Effects

hg38 • Region Span ~107.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MARCHF10 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 108

MARCHF10-related disorderTotal: 23

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152598.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	5 clinvar	5 clinvar	11
missense			99 clinvar	15 clinvar	8 clinvar	122
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	102	20	13	135

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 33 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152598.4	RefSeq	NP_689811.2	10	MANE Select
ENST00000311269.10	Ensembl	ENSP00000311496.5	10	MANE Select
NM_001100875.3	RefSeq	NP_001094345.1	10	Standard
NM_001288779.2	RefSeq	NP_001275708.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein ubiquitination

Molecular Function

protein binding
zinc ion binding
transferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000311269
Coding exons: 10
Length: 107031
Individuals with no LoFs: 125594
Homozygous LoFs: 1
Heterozygous LoFs: 153
Defined: 125748
p: 0.000613

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.702	374	414	0.903	0.0000214	5319
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.0061	0.0057	notable
Finnish	0.00024	0.00023	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00030	0.00029	rare
Other	0.00084	0.00081	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0392

Gene Damage Prediction

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