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.

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.

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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	0	0

Variants in FZD10

This is a list of pathogenic ClinVar variants found in the FZD10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-130162987-G-T		not specified	Uncertain significance (Oct 29, 2021)
12-130162992-C-T		not specified	Uncertain significance (Dec 28, 2022)
12-130163003-A-G		not specified	Uncertain significance (Oct 16, 2024)
12-130163020-G-A		not specified	Uncertain significance (Jan 16, 2024)
12-130163069-A-G		not specified	Uncertain significance (Jun 18, 2024)
12-130163129-G-A		not specified	Uncertain significance (Dec 21, 2022)
12-130163193-G-A		not specified	Uncertain significance (Oct 09, 2024)
12-130163214-A-T		not specified	Uncertain significance (May 17, 2023)
12-130163289-A-G		not specified	Uncertain significance (Dec 02, 2022)
12-130163305-G-C		not specified	Uncertain significance (Dec 22, 2023)
12-130163311-G-C		not specified	Uncertain significance (Mar 26, 2024)
12-130163332-C-G		not specified	Uncertain significance (Nov 14, 2024)
12-130163359-C-A		not specified	Uncertain significance (Jan 17, 2024)
12-130163401-C-A		not specified	Uncertain significance (Aug 28, 2024)
12-130163402-G-A		not specified	Uncertain significance (Dec 09, 2024)
12-130163442-C-T		not specified	Uncertain significance (Nov 09, 2024)
12-130163476-G-C		not specified	Uncertain significance (Nov 21, 2022)
12-130163480-C-T		not specified	Uncertain significance (Aug 10, 2021)
12-130163484-C-G		not specified	Uncertain significance (Aug 20, 2024)
12-130163486-C-A		not specified	Uncertain significance (Dec 19, 2023)
12-130163504-G-T		not specified	Uncertain significance (Apr 01, 2024)
12-130163543-G-A		not specified	Uncertain significance (Jun 16, 2024)
12-130163565-C-T		not specified	Uncertain significance (Oct 12, 2022)
12-130163606-G-A		not specified	Uncertain significance (Jun 21, 2023)
12-130163682-T-A		not specified	Uncertain significance (Apr 15, 2022)

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
• ghis: 0.601

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• 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