FGFBP1

fibroblast growth factor binding protein 1

Basic information

Region (hg38): 4:15935576-15938740

Links

ENSG00000137440 ∙ NCBI:9982 ∙ OMIM:607737 ∙ HGNC:19695 ∙ Uniprot:Q14512 ∙ 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 FGFBP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGFBP1 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			15	4	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	5	1

Variants in FGFBP1

This is a list of pathogenic ClinVar variants found in the FGFBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-15936026-T-C		not specified	Likely benign (Mar 01, 2023)
4-15936088-G-A		not specified	Uncertain significance (Dec 20, 2023)
4-15936094-G-A		not specified	Likely benign (Jan 22, 2024)
4-15936094-G-C		not specified	Uncertain significance (May 16, 2022)
4-15936129-C-T		not specified	Uncertain significance (Sep 13, 2023)
4-15936220-A-G		not specified	Uncertain significance (Jul 13, 2021)
4-15936233-C-G		not specified	Likely benign (Aug 13, 2021)
4-15936239-T-A		not specified	Likely benign (Jan 23, 2024)
4-15936265-T-A		not specified	Uncertain significance (May 24, 2024)
4-15936272-G-A		not specified	Uncertain significance (Jan 07, 2022)
4-15936367-T-A			Benign (Jul 10, 2017)
4-15936396-G-C		not specified	Uncertain significance (Oct 17, 2023)
4-15936404-C-T		not specified	Uncertain significance (Nov 17, 2022)
4-15936416-T-C		not specified	Uncertain significance (Oct 05, 2023)
4-15936422-C-A		not specified	Uncertain significance (Jun 11, 2021)
4-15936446-T-C		not specified	Uncertain significance (Apr 07, 2022)
4-15936451-A-G		not specified	Uncertain significance (Aug 02, 2023)
4-15936454-A-C		not specified	Uncertain significance (Jan 19, 2024)
4-15936470-C-T		not specified	Uncertain significance (Jul 06, 2021)
4-15936482-T-G		not specified	Uncertain significance (Jan 26, 2022)
4-15936514-T-G		not specified	Uncertain significance (Jan 26, 2023)
4-15936625-ATCT-A			Likely benign (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGFBP1	protein_coding	protein_coding	ENST00000382333	1	3172

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.588	0.375	125705	0	35	125740	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.855	146	120	1.22	0.00000573	1533
Missense in Polyphen		41	33.184	1.2355		441
Synonymous	-1.81	64	48.0	1.33	0.00000237	460
Loss of Function	1.54	0	2.76	0.00	1.18e-7	37

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000389
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000185	0.000176
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a carrier protein that release fibroblast- binding factors (FGFs) from the extracellular matrix (EM) storage and thus enhance the mitogenic activity of FGFs. Enhances FGF2 signaling during tissue repair, angiogenesis and in tumor growth. {ECO:0000269|PubMed:11509569, ECO:0000269|PubMed:15806171, ECO:0000269|PubMed:1885605, ECO:0000269|PubMed:9334727}.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-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)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.746
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• pHI: 0.0684
• hipred: N
• hipred_score: 0.123
• ghis: 0.386

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.794

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Fgfbp1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: fgfbp1a
• Affected structure: subintestinal vein
• Phenotype tag: abnormal
• Phenotype quality: aplastic

Gene ontology

• Biological process: signal transduction;cell-cell signaling;negative regulation of cell population proliferation;fibroblast growth factor receptor signaling pathway;positive regulation of fibroblast growth factor receptor signaling pathway;positive regulation of cell migration involved in sprouting angiogenesis;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis
• Cellular component: extracellular region;extracellular space;plasma membrane;cell surface
• Molecular function: protein binding;heparin binding;fibroblast growth factor binding