FZD7
frizzled class receptor 7, the group of G protein-coupled receptors, Class F frizzled
Basic information
Region (hg38): 2:202033855-202038441
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 FZD7 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 | 22 | 23 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 22 | 1 | 2 |
Variants in FZD7
This is a list of pathogenic ClinVar variants found in the FZD7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-202034761-G-C | not specified | Uncertain significance (Jun 07, 2024) | ||
| 2-202034777-C-T | not specified | Uncertain significance (Nov 22, 2023) | ||
| 2-202034780-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
| 2-202034811-C-A | not specified | Uncertain significance (Aug 17, 2021) | ||
| 2-202034972-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
| 2-202035177-C-A | not specified | Uncertain significance (Nov 03, 2023) | ||
| 2-202035185-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
| 2-202035219-C-G | not specified | Uncertain significance (Mar 31, 2022) | ||
| 2-202035234-G-A | Benign (Feb 12, 2018) | |||
| 2-202035255-G-A | not specified | Uncertain significance (Feb 16, 2023) | ||
| 2-202035260-G-C | not specified | Uncertain significance (Jun 18, 2021) | ||
| 2-202035383-A-G | not specified | Uncertain significance (Feb 21, 2024) | ||
| 2-202035404-G-A | not specified | Uncertain significance (Aug 22, 2023) | ||
| 2-202035436-G-A | Likely benign (Dec 31, 2018) | |||
| 2-202035461-G-A | not specified | Uncertain significance (Dec 16, 2021) | ||
| 2-202035594-T-C | not specified | Uncertain significance (Jan 05, 2022) | ||
| 2-202035744-G-A | not specified | Uncertain significance (Jul 12, 2023) | ||
| 2-202035774-C-T | not specified | Uncertain significance (Jul 15, 2021) | ||
| 2-202035809-G-T | not specified | Uncertain significance (Aug 08, 2023) | ||
| 2-202035874-G-A | Benign (Jul 21, 2018) | |||
| 2-202035905-G-T | not specified | Uncertain significance (Jun 07, 2023) | ||
| 2-202035998-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
| 2-202036064-G-A | not specified | Uncertain significance (May 09, 2024) | ||
| 2-202036238-A-G | not specified | Uncertain significance (Sep 26, 2023) | ||
| 2-202036245-A-C | not specified | Uncertain significance (Jan 03, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FZD7 | protein_coding | protein_coding | ENST00000286201 | 1 | 3851 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0883 | 0.910 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.03 | 257 | 367 | 0.701 | 0.0000195 | 3703 |
| Missense in Polyphen | 58 | 123.64 | 0.4691 | 1363 | ||
| Synonymous | -2.14 | 210 | 174 | 1.21 | 0.0000104 | 1253 |
| Loss of Function | 2.75 | 5 | 17.4 | 0.288 | 7.53e-7 | 169 |
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. Most of frizzled receptors are coupled to the beta-catenin canonical signaling pathway, which 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.;
- 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;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;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;Asymmetric localization of PCP proteins;PCP/CE pathway;Beta-catenin independent WNT signaling;Noncanonical Wnt signaling pathway;GPCR signaling-G alpha i;Wnt;Wnt Canonical;Wnt signaling network;Wnt Mammals;Syndecan-4-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.200
Intolerance Scores
- loftool
- 0.107
- rvis_EVS
- -0.47
- rvis_percentile_EVS
- 23.43
Haploinsufficiency Scores
- pHI
- 0.849
- hipred
- Y
- hipred_score
- 0.853
- ghis
- 0.543
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.942
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fzd7
- 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); growth/size/body region phenotype; craniofacial phenotype; embryo phenotype; pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); 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); 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); limbs/digits/tail phenotype; digestive/alimentary phenotype;
Zebrafish Information Network
- Gene name
- fzd7a
- Affected structure
- ceratobranchial cartilage
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- regulation of transcription, DNA-templated;G protein-coupled receptor signaling pathway;negative regulation of cell-substrate adhesion;skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration;stem cell population maintenance;neuron differentiation;T cell differentiation in thymus;substrate adhesion-dependent cell spreading;non-canonical Wnt signaling pathway;non-canonical Wnt signaling pathway via JNK cascade;positive regulation of phosphorylation;negative regulation of ectodermal cell fate specification;positive regulation of transcription, DNA-templated;positive regulation of JNK cascade;somatic stem cell division;positive regulation of epithelial cell proliferation involved in wound healing;canonical Wnt signaling pathway;Wnt signaling pathway, planar cell polarity pathway;mesenchymal to epithelial transition;regulation of canonical Wnt signaling pathway;cellular response to retinoic acid;negative regulation of cardiac muscle cell differentiation
- Cellular component
- plasma membrane;integral component of membrane;recycling endosome membrane
- Molecular function
- G protein-coupled receptor activity;frizzled binding;protein binding;phosphatidylinositol-4,5-bisphosphate binding;Wnt-protein binding;PDZ domain binding;Wnt-activated receptor activity