FRS3
Basic information
Region (hg38): 6:41770176-41786542
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (77 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FRS3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006653.5. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 75 | 79 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 75 | 2 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FRS3 | protein_coding | protein_coding | ENST00000373018 | 5 | 16367 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.550 | 0.449 | 125727 | 0 | 7 | 125734 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.916 | 276 | 322 | 0.856 | 0.0000210 | 3176 |
Missense in Polyphen | 69 | 108.23 | 0.63753 | 1137 | ||
Synonymous | -0.884 | 144 | 131 | 1.10 | 0.00000795 | 1041 |
Loss of Function | 3.28 | 4 | 19.7 | 0.203 | 0.00000125 | 175 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000579 | 0.0000579 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000475 | 0.0000462 |
European (Non-Finnish) | 0.0000270 | 0.0000264 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2. {ECO:0000269|PubMed:15094036}.;
- Pathway
- Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;FRS-mediated FGFR2 signaling;Signaling by FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;Downstream signaling of activated FGFR3;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;Downstream signaling of activated FGFR4;Signaling by FGFR4;Signaling by FGFR;FGF;Signaling by NTRK2 (TRKB);Signaling by NTRKs;BDNF;EGFR1;SHP2 signaling;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Activated NTRK2 signals through FRS2 and FRS3;Signaling by Receptor Tyrosine Kinases;Neurotrophic factor-mediated Trk receptor signaling;Downstream signaling of activated FGFR1;FRS-mediated FGFR1 signaling;Signaling by FGFR1
(Consensus)
Recessive Scores
- pRec
- 0.138
Intolerance Scores
- loftool
- 0.440
- rvis_EVS
- 0.29
- rvis_percentile_EVS
- 71.57
Haploinsufficiency Scores
- pHI
- 0.958
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.525
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.978
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Frs3
- Phenotype
- cellular phenotype; craniofacial 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); vision/eye phenotype;
Gene ontology
- Biological process
- MAPK cascade;signal transduction;fibroblast growth factor receptor signaling pathway
- Cellular component
- plasma membrane
- Molecular function
- Ras guanyl-nucleotide exchange factor activity;fibroblast growth factor receptor binding;protein binding;identical protein binding