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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)