FZD10

frizzled class receptor 10, the group of CD molecules|G protein-coupled receptors, Class F frizzled

Basic information

Region (hg38): 12:130162459-130165740

Links

ENSG00000111432

∙ NCBI:11211 ∙ OMIM:606147 ∙ HGNC:4039 ∙ Uniprot:Q9ULW2 ∙ 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 FZD10 gene.

not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FZD10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007197.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			72 clinvar			72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FZD10	protein_coding	protein_coding	ENST00000229030	1	3282

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000528	0.974	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0587	358	361	0.991	0.0000192	3812
Missense in Polyphen		178	193.77	0.91863		2113
Synonymous	-0.217	164	161	1.02	0.00000924	1178
Loss of Function	1.98	8	16.7	0.478	7.28e-7	170

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for Wnt proteins. Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). The canonical Wnt/beta-catenin signaling pathway leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin and activation of Wnt target genes. A second signaling pathway involving PKC and calcium fluxes has been seen for some family members, but it is not yet clear if it represents a distinct pathway or if it can be integrated in the canonical pathway, as PKC seems to be required for Wnt-mediated inactivation of GSK-3 kinase. Both pathways seem to involve interactions with G-proteins. May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). {ECO:0000250|UniProtKB:Q8BKG4, ECO:0000305}.;
Pathway: Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Breast cancer - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Basal cell carcinoma - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Hippo signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Wnt signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Association Between Physico-Chemical Features and Toxicity Associated Pathways;Wnt Signaling Pathway and Pluripotency;EMT transition in Colorectal Cancer;Wnt Signaling Pathway;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;Wnt Canonical;Wnt signaling network;Wnt Mammals (Consensus)

Recessive Scores

pRec: 0.155

Intolerance Scores

loftool: 0.317
rvis_EVS: -0.91
rvis_percentile_EVS: 9.9

Haploinsufficiency Scores

pHI: 0.387
hipred
hipred_score
ghis: 0.601

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.333

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Fzd10
Phenotype: normal phenotype;

Zebrafish Information Network

Gene name: fzd10
Affected structure: Kupffer's vesicle
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;neuron differentiation;regulation of actin cytoskeleton organization;negative regulation of GTPase activity;non-canonical Wnt signaling pathway;non-canonical Wnt signaling pathway via JNK cascade;positive regulation of JUN kinase activity;positive regulation of GTPase activity;canonical Wnt signaling pathway;cellular response to retinoic acid
Cellular component: nucleoplasm;cytoplasm;plasma membrane;integral component of plasma membrane;cell surface
Molecular function: G protein-coupled receptor activity;protein binding;Wnt-protein binding;Wnt-activated receptor activity