FGFR3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FGFR3 (HGNC:3690) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
fibroblast growth factor receptor 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ACH
Alias symbols
CEK2, JTK4, CD333
%HI
6.4(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.46(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:1795020-1810594 NCBI Ensembl UCSC
GRCh38/hg38: chr4:1793293-1808867 NCBI Ensembl UCSC
MANE Select Transcript
NM_000142.5 ENST00000440486.8 (Read more about MANE Select)
Function
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34375
ClinGen Curation ID:
CCID:007139
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/09/2011

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
While gain of function mutations in FGFR3 contribute to several conditions (Muenke, Crouzon, etc.), there are no case reports with deletion/loss of function mutations to determine whether FGFR3 is a haploinsufficient locus.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:
  • PUBMED: 21815251
    Cyr (2011): Report of a de novo duplication including CRIPAK, SLBP,TACC3, FGFR3, and LETM1. It is not clear if FGFR3 triplosensitivity contributes to the phenotype observed.
  • PUBMED: 20197130
    Hannes (2010): Report of a de novo duplication including SLBP,TACC3, FGFR3, LETM1, and WHSCR1 (complicated also by an inversion in the region). It is not clear if FGFR3 triplosensitivity contributes to the phenotype observed.
TS Evidence Comments:
More publications of focal duplications are needed to determine triplosensitivity of FGFR3, specifically. The case reports found are listed here only for correlation with similar cases, not as conclusive evidence of triplosensitivity.

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)