MARCHF8

membrane associated ring-CH-type finger 8, the group of Ring finger proteins|Membrane associated ring-CH-type fingers

Basic information

Region (hg38): 10:45454585-45594906

Previous symbols: [ "MIR", "MARCH8" ]

Links

ENSG00000165406

∙ NCBI:220972 ∙ OMIM:613335 ∙ HGNC:23356 ∙ Uniprot:Q5T0T0 ∙ 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 MARCHF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARCHF8 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARCHF8	protein_coding	protein_coding	ENST00000395771	6	140320

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.87e-7	0.447	125725	0	23	125748	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	124	161	0.770	0.00000861	1921
Missense in Polyphen		31	44.908	0.6903		530
Synonymous	0.746	56	63.6	0.881	0.00000401	531
Loss of Function	0.708	11	13.8	0.795	5.83e-7	181

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000131	0.0000992
East Asian	0.000166	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000143	0.000141
Middle Eastern	0.000166	0.000163
South Asian	0.0000677	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS. {ECO:0000269|PubMed:12582153, ECO:0000269|PubMed:14722266, ECO:0000269|PubMed:18389477, ECO:0000269|PubMed:19117940, ECO:0000269|PubMed:19566897}.;

Recessive Scores

pRec: 0.100

Intolerance Scores

loftool: 0.845
rvis_EVS: 0.68
rvis_percentile_EVS: 85.04

Haploinsufficiency Scores

pHI: 0.102
hipred: N
hipred_score: 0.309
ghis: 0.458

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.707

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: March8
Phenotype

Zebrafish Information Network

Gene name: march8
Affected structure: whole organism
Phenotype tag: abnormal
Phenotype quality: decreased length

Gene ontology

Biological process: protein polyubiquitination;adaptive immune response
Cellular component: lysosome;lysosomal membrane;endosome;integral component of membrane;cytoplasmic vesicle membrane;early endosome membrane
Molecular function: ubiquitin-protein transferase activity;zinc ion binding