FRS3

fibroblast growth factor receptor substrate 3

Basic information

Region (hg38): 6:41770176-41786542

Links

ENSG00000137218NCBI:10817OMIM:607744HGNC:16970Uniprot:O43559AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FRS3 gene.

  • 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.

EffectPLPVUSLBBSum
synonymous
0
missense
75
clinvar
2
clinvar
2
clinvar
79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 75 2 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FRS3protein_codingprotein_codingENST00000373018 516367
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5500.449125727071257340.0000278
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9162763220.8560.00002103176
Missense in Polyphen69108.230.637531137
Synonymous-0.8841441311.100.000007951041
Loss of Function3.28419.70.2030.00000125175

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005790.0000579
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004750.0000462
European (Non-Finnish)0.00002700.0000264
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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