FGFBP2
Basic information
Region (hg38): 4:15960245-15969309
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 47 | 48 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 47 | 1 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FGFBP2 | protein_coding | protein_coding | ENST00000259989 | 1 | 9067 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00389 | 0.426 | 125680 | 0 | 5 | 125685 | 0.0000199 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0413 | 132 | 131 | 1.01 | 0.00000720 | 1434 |
Missense in Polyphen | 24 | 30.791 | 0.77945 | 405 | ||
Synonymous | -0.694 | 59 | 52.6 | 1.12 | 0.00000298 | 454 |
Loss of Function | -0.481 | 3 | 2.23 | 1.35 | 9.47e-8 | 26 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000580 | 0.0000580 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000179 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000328 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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