FZD9
frizzled class receptor 9, the group of CD molecules|G protein-coupled receptors, Class F frizzled
Basic information
Region (hg38): 7:73433778-73436120
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 FZD9 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 | 1 | |||||
| missense | 31 | 31 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 31 | 1 | 0 |
Variants in FZD9
This is a list of pathogenic ClinVar variants found in the FZD9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-73434060-C-T | not specified | Uncertain significance (Nov 08, 2021) | ||
| 7-73434110-G-A | not specified | Uncertain significance (Oct 24, 2024) | ||
| 7-73434113-G-T | not specified | Uncertain significance (Jul 12, 2023) | ||
| 7-73434150-G-A | not specified | Uncertain significance (Dec 03, 2024) | ||
| 7-73434177-T-C | not specified | Uncertain significance (Dec 10, 2024) | ||
| 7-73434252-A-G | not specified | Uncertain significance (Nov 11, 2024) | ||
| 7-73434312-A-T | not specified | Uncertain significance (Nov 09, 2021) | ||
| 7-73434329-A-G | not specified | Uncertain significance (Feb 12, 2025) | ||
| 7-73434333-C-G | not specified | Uncertain significance (Oct 29, 2024) | ||
| 7-73434341-C-T | not specified | Uncertain significance (Nov 09, 2024) | ||
| 7-73434342-G-T | not specified | Uncertain significance (Jan 24, 2025) | ||
| 7-73434390-A-C | not specified | Uncertain significance (Apr 11, 2023) | ||
| 7-73434428-C-T | not specified | Uncertain significance (Sep 11, 2024) | ||
| 7-73434454-C-A | not specified | Uncertain significance (Jul 14, 2021) | ||
| 7-73434471-C-T | not specified | Uncertain significance (Jan 19, 2025) | ||
| 7-73434573-G-A | not specified | Uncertain significance (Jan 26, 2023) | ||
| 7-73434596-G-C | not specified | Uncertain significance (Nov 21, 2023) | ||
| 7-73434779-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
| 7-73434831-A-G | not specified | Uncertain significance (Sep 27, 2022) | ||
| 7-73434881-G-A | not specified | Uncertain significance (Oct 01, 2024) | ||
| 7-73434882-T-A | not specified | Uncertain significance (Oct 11, 2024) | ||
| 7-73434900-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
| 7-73434972-A-G | not specified | Uncertain significance (Jan 24, 2024) | ||
| 7-73434974-T-G | not specified | Uncertain significance (Dec 31, 2024) | ||
| 7-73435187-G-C | not specified | Uncertain significance (Aug 27, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FZD9 | protein_coding | protein_coding | ENST00000344575 | 1 | 2342 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00193 | 0.978 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.01 | 275 | 386 | 0.712 | 0.0000280 | 3730 |
| Missense in Polyphen | 120 | 180.69 | 0.6641 | 1759 | ||
| Synonymous | 1.64 | 160 | 189 | 0.848 | 0.0000157 | 1271 |
| Loss of Function | 2.05 | 7 | 15.8 | 0.444 | 6.82e-7 | 163 |
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 WNT2 that is 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 (By similarity). Plays a role in neuromuscular junction (NMJ) assembly by negatively regulating the clustering of acetylcholine receptors (AChR) through the beta-catenin canonical signaling pathway (By similarity). May play a role in neural progenitor cells (NPCs) viability through the beta-catenin canonical signaling pathway by negatively regulating cell cycle arrest leading to inhibition of neuron apoptotic process (PubMed:27509850). During hippocampal development, regulates neuroblast proliferation and apoptotic cell death. Controls bone formation through non canonical Wnt signaling mediated via ISG15. Positively regulates bone regeneration through non canonical Wnt signaling (By similarity). {ECO:0000250|UniProtKB:Q8K4C8, ECO:0000250|UniProtKB:Q9R216, ECO:0000269|PubMed:27509850}.;
- 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;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;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;Wnt Canonical;Wnt signaling network;Wnt Mammals
(Consensus)
Recessive Scores
- pRec
- 0.142
Intolerance Scores
- loftool
- 0.150
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.37
Haploinsufficiency Scores
- pHI
- 0.113
- hipred
- Y
- hipred_score
- 0.563
- ghis
- 0.499
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.974
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fzd9
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); hematopoietic system 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); immune system phenotype;
Gene ontology
- Biological process
- ossification;release of cytochrome c from mitochondria;G protein-coupled receptor signaling pathway;nervous system development;neuroblast proliferation;learning or memory;B cell differentiation;positive regulation of bone mineralization;non-canonical Wnt signaling pathway;positive regulation of apoptotic process;negative regulation of neuron apoptotic process;regulation of cytosolic calcium ion concentration;negative regulation of mitochondrial depolarization;canonical Wnt signaling pathway;negative regulation of necroptotic process;negative regulation of cell cycle arrest;positive regulation of canonical Wnt signaling pathway;postsynapse organization;regulation of postsynaptic cytosolic calcium ion concentration;negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;regulation of skeletal muscle acetylcholine-gated channel clustering;negative regulation of skeletal muscle acetylcholine-gated channel clustering;bone regeneration;positive regulation of neural precursor cell proliferation
- Cellular component
- cytoplasm;endoplasmic reticulum membrane;Golgi apparatus;plasma membrane;cell surface;integral component of membrane;filopodium membrane;mitochondrial membrane;perinuclear region of cytoplasm;postsynapse;glutamatergic synapse
- Molecular function
- G protein-coupled receptor activity;Wnt-protein binding;protein homodimerization activity;Wnt-activated receptor activity;protein heterodimerization activity