FGFBP2

fibroblast growth factor binding protein 2

Basic information

Region (hg38): 4:15960245-15969309

Links

ENSG00000137441NCBI:83888OMIM:607713HGNC:29451Uniprot:Q9BYJ0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGFBP2 gene.

  • not_specified (48 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGFBP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031950.4. 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
47
clinvar
1
clinvar
48
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 47 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FGFBP2protein_codingprotein_codingENST00000259989 19067
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.003890.426125680051256850.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.04131321311.010.000007201434
Missense in Polyphen2430.7910.77945405
Synonymous-0.6945952.61.120.00000298454
Loss of Function-0.48132.231.359.47e-826

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005800.0000580
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001790.0000176
Middle Eastern0.000.00
South Asian0.00003280.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
FGFR2b ligand binding and activation;FGFR2 ligand binding and activation;Signaling by FGFR2;Signal Transduction;Signaling by FGFR;Signaling by Receptor Tyrosine Kinases (Consensus)

Intolerance Scores

loftool
0.854
rvis_EVS
0.6
rvis_percentile_EVS
82.66

Haploinsufficiency Scores

pHI
0.113
hipred
N
hipred_score
0.146
ghis
0.378

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.444

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Zebrafish Information Network

Gene name
fgfbp2b
Affected structure
whole organism
Phenotype tag
abnormal
Phenotype quality
curved

Gene ontology

Biological process
cell-cell signaling
Cellular component
extracellular space
Molecular function
growth factor binding