FGFBP2

fibroblast growth factor binding protein 2

Basic information

Region (hg38): 4:15960244-15969309

Links

ENSG00000137441 ∙ NCBI:83888 ∙ OMIM:607713 ∙ HGNC:29451 ∙ Uniprot:Q9BYJ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• Inborn genetic diseases (19 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in FGFBP2

This is a list of pathogenic ClinVar variants found in the FGFBP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-15962462-C-G		not specified	Uncertain significance (Jan 02, 2024)
4-15962465-C-T		not specified	Likely benign (Sep 14, 2023)
4-15962467-G-T		not specified	Uncertain significance (May 27, 2022)
4-15962514-A-T		not specified	Uncertain significance (Nov 07, 2022)
4-15962516-T-C		not specified	Uncertain significance (Mar 02, 2023)
4-15962523-A-G		not specified	Uncertain significance (Jan 02, 2024)
4-15962544-C-T		not specified	Uncertain significance (Sep 12, 2023)
4-15962545-A-T		not specified	Uncertain significance (Dec 19, 2023)
4-15962553-C-T		not specified	Uncertain significance (Nov 03, 2022)
4-15962591-C-T		not specified	Uncertain significance (Nov 22, 2021)
4-15962615-A-G		not specified	Uncertain significance (Jul 06, 2021)
4-15962658-G-C		not specified	Uncertain significance (Dec 08, 2023)
4-15962709-G-C		not specified	Uncertain significance (Oct 12, 2021)
4-15962723-C-T		not specified	Uncertain significance (Feb 15, 2023)
4-15962756-T-C		not specified	Uncertain significance (Feb 01, 2023)
4-15962762-T-C		not specified	Uncertain significance (Dec 17, 2023)
4-15962784-C-T		not specified	Uncertain significance (Jun 29, 2022)
4-15962801-G-T		not specified	Uncertain significance (Apr 22, 2022)
4-15962805-C-A		not specified	Uncertain significance (Aug 23, 2021)
4-15962816-G-T		not specified	Uncertain significance (Jan 23, 2024)
4-15962829-G-A		not specified	Uncertain significance (Dec 08, 2023)
4-15962835-G-T		not specified	Uncertain significance (Nov 22, 2023)
4-15962864-T-G		not specified	Uncertain significance (May 17, 2023)
4-15962940-G-A		not specified	Uncertain significance (Aug 19, 2023)
4-15962951-C-G		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

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: 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

	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