FGFRL1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FGFRL1 (HGNC:3693) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
fibroblast growth factor receptor like 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FGFR5
%HI
61.34(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.16(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:1005414-1020686 NCBI Ensembl UCSC
GRCh38/hg38: chr4:1010212-1026898 NCBI Ensembl UCSC
MANE Select Transcript
NM_001004356.3 ENST00000510644.6 (Read more about MANE Select)
Function
Has a negative effect on cell proliferation. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16926
ClinGen Curation ID:
CCID:007140
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:
08/01/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Non-focal 4p16.3 deletions involving FGFRL1 have been reported in patients with Wolf-Hirschhorn syndrome (WHS) (MIM #194190) however this gene lies outside the current WHS critical region. Based on clinical studies, gene expression data, and studies of animal models, FGFRL1 was proposed as a candidate gene for certain aspects of the WHS phenotype [see PMIDs 18830230, 19056490, 19383940, 21792232], however haploinsufficiency for FGFRL1 alone has not been demonstrated. Furthermore, as deletions involving FGFRL1 have been reported in control populations [see DGV and PMID 21841781], additional studies will be necessary to determine the significance of FGFRL1 deletion.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

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