FZD1
frizzled class receptor 1, the group of G protein-coupled receptors, Class F frizzled
Basic information
Region (hg38): 7:91264433-91271326
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 28 | 28 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 28 | 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) | ||
| 7-91264966-G-A | not specified | Uncertain significance (Jun 18, 2024) | ||
| 7-91264995-G-T | not specified | Uncertain significance (May 30, 2024) | ||
| 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) |
GnomAD
Source:
| 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:
- 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