FZD1

frizzled class receptor 1, the group of G protein-coupled receptors, Class F frizzled

Basic information

Region (hg38): 7:91264432-91271326

Links

ENSG00000157240 ∙ NCBI:8321 ∙ OMIM:603408 ∙ HGNC:4038 ∙ Uniprot:Q9UP38 ∙ 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 FZD1 gene.

• Inborn genetic diseases (18 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FZD1 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					2	2
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	2

Variants in FZD1

This is a list of pathogenic ClinVar variants found in the FZD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-91264934-C-G		not specified	Uncertain significance (Sep 29, 2022)
7-91265022-C-A		not specified	Uncertain significance (Nov 10, 2023)
7-91265043-C-G		not specified	Uncertain significance (Jul 25, 2023)
7-91265055-C-T		not specified	Uncertain significance (Feb 15, 2023)
7-91265092-G-C		not specified	Uncertain significance (Feb 21, 2024)
7-91265118-G-C		not specified	Uncertain significance (Mar 13, 2023)
7-91265119-G-A		not specified	Uncertain significance (Sep 20, 2023)
7-91265127-C-T		not specified	Uncertain significance (Nov 28, 2023)
7-91265224-A-G		not specified	Uncertain significance (Jul 25, 2023)
7-91265406-G-A		not specified	Uncertain significance (Mar 24, 2023)
7-91265420-A-G			Benign (Jul 23, 2018)
7-91265454-G-C		not specified	Uncertain significance (Jan 26, 2022)
7-91265610-C-T		not specified	Uncertain significance (May 03, 2023)
7-91265623-C-G		not specified	Uncertain significance (Jan 23, 2024)
7-91265680-G-T		not specified	Uncertain significance (Jul 25, 2023)
7-91265733-T-G		not specified	Uncertain significance (Dec 28, 2023)
7-91265800-G-A		not specified	Uncertain significance (Dec 04, 2023)
7-91266065-G-C		not specified	Uncertain significance (Mar 07, 2024)
7-91266118-G-C		not specified	Uncertain significance (Jun 22, 2023)
7-91266147-C-G		not specified	Uncertain significance (Dec 15, 2022)
7-91266237-G-A		not specified	Uncertain significance (Nov 23, 2022)
7-91266237-G-T		not specified	Uncertain significance (Feb 27, 2024)
7-91266351-G-A		not specified	Uncertain significance (Jan 10, 2023)
7-91266417-C-T		not specified	Uncertain significance (Apr 08, 2023)
7-91266438-A-G		not specified	Uncertain significance (Jul 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FZD1	protein_coding	protein_coding	ENST00000287934	1	4341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0424	0.956	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	271	368	0.737	0.0000202	4153
Missense in Polyphen		54	120.53	0.448		1382
Synonymous	-1.71	200	172	1.17	0.0000107	1374
Loss of Function	2.86	6	19.7	0.305	9.07e-7	200

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 (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have been described for mouse (By similarity). Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:10557084). 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 (PubMed:10557084). 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:O70421, ECO:0000269|PubMed:10557084, 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);WNT-Core;MicroRNAs in cardiomyocyte hypertrophy;Adipogenesis;Hair Follicle Development- Induction (Part 1 of 3);Regulation of Wnt-B-catenin Signaling by Small Molecule Compounds;Association Between Physico-Chemical Features and Toxicity Associated Pathways;ESC Pluripotency Pathways;Wnt Signaling Pathway and Pluripotency;Wnt Signaling in Kidney Disease;EMT transition in Colorectal Cancer;Wnt Signaling Pathway;Signaling by GPCR;Signaling by WNT;Signal Transduction;wnt signaling pathway;segmentation clock;multi-step regulation of transcription by pitx2;wnt lrp6 signalling;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;Disassembly of the destruction complex and recruitment of AXIN to the membrane;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;Asymmetric localization of PCP proteins;PCP/CE pathway;Beta-catenin independent WNT signaling;GPCR signaling-G alpha i;Wnt;Wnt Canonical;Wnt signaling network;TCF dependent signaling in response to WNT;Wnt Mammals;Presenilin action in Notch and Wnt signaling (Consensus)

Recessive Scores

• pRec: 0.228

Intolerance Scores

• loftool: 0.126
• rvis_EVS: -0.91
• rvis_percentile_EVS: 9.9

Haploinsufficiency Scores

• pHI: 0.946
• hipred: Y
• hipred_score: 0.783
• ghis: 0.617

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.966

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fzd1
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; craniofacial phenotype; digestive/alimentary phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); pigmentation phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); normal phenotype; reproductive system phenotype; embryo phenotype; skeleton phenotype

Gene ontology

• Biological process: positive regulation of protein phosphorylation;membranous septum morphogenesis;muscular septum morphogenesis;outflow tract morphogenesis;G protein-coupled receptor signaling pathway;cell-cell signaling;positive regulation of neuron projection development;neuron differentiation;negative regulation of BMP signaling pathway;epithelial cell differentiation;autocrine signaling;non-canonical Wnt signaling pathway;response to drug;canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation;canonical Wnt signaling pathway involved in osteoblast differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of DNA-binding transcription factor activity;hard palate development;canonical Wnt signaling pathway;Wnt signaling pathway, planar cell polarity pathway;negative regulation of canonical Wnt signaling pathway;planar cell polarity pathway involved in neural tube closure;presynapse assembly;negative regulation of oxidative stress-induced neuron death;beta-catenin destruction complex disassembly;Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation;regulation of presynapse assembly
• Cellular component: plasma membrane;focal adhesion;cell surface;integral component of membrane;Wnt signalosome
• Molecular function: G protein-coupled receptor activity;signaling receptor binding;frizzled binding;protein binding;Wnt-protein binding;PDZ domain binding;Wnt-activated receptor activity