FIBP

protein-coding

FGF1 intracellular binding protein

Gene summary

Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_004214.5

Inheritance

ClinVar variants

P:4U:73B:20

Top phenotype

Thauvin-Robinet-Faivre syndrome

gnomAD constraint

pLI —, LoF o/e 0.63

Max pathogenic AF

—

Genomic locus

chr11:65,883,740-65,888,531

External References & Databases

Ensembl (ENSG00000172500)

Transcript & Mutation Effects

hg38 • Region Span ~4.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

tall stature-intellectual disability-renal anomalies syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0014918

Submitter: PanelApp Australia

tall stature-intellectual disability-renal anomalies syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0014918

Submitter: G2P

tall stature-intellectual disability-renal anomalies syndromeSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0014918

Submitter: Labcorp Genetics (formerly Invitae)

tall stature-intellectual disability-renal anomalies syndromeSUPPORTIVE

Inheritance Pattern: AR

Disease ID:MONDO:0014918

Submitter: Orphanet

Clinical Genomic Database (CGD)

Thauvin-Robinet-Faivre syndromeAR

Manifestation: Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic; Renal

Intervention: Cardiovascular; Oncologic

Rationale: The condition may include increased risk of Wilms tumor, and awareness may allow surveillance, early diagnosis, and management; The condition can involve congenital cardiac anomalies, and awareness may allow early management

Refs: 26660953; 27183861

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FIBP variants in ClinVar

11 Conditions Cataloged

Inborn genetic diseasesTotal: 55

not providedTotal: 22

Tall stature-intellectual disability-renal anomalies syndromeTotal: 11

FIBP-related disorderTotal: 5

not specifiedTotal: 5

Large handsTotal: 1

Congenital ocular colobomaTotal: 1

OvergrowthTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004214.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	17 clinvar	1 clinvar	19
missense			64 clinvar	1 clinvar	1 clinvar	66
nonsense		1 clinvar	2 clinvar			3
start loss						0
frameshift		2 clinvar	2 clinvar			4
splice donor/acceptor (+/-2bp)		1 clinvar	4 clinvar			5
Total	0	4	73	18	2	97

Highest pathogenic variant AF is 0.000003340694

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004214.5	RefSeq	NP_004205.2	10	MANE Select
ENST00000357519.9	Ensembl	ENSP00000350124.5	10	MANE Select
NM_198897.2	RefSeq	NP_942600.1	10	Standard
ENST00000338369.6	Ensembl	ENSP00000344572.2	10	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
fibpb	Danio rerio	Structure: whole organism Quality: decreased length abnormal

Gene / Model

Organism

Observed Phenotype

fibpb

Danio rerio

Structure: whole organism

Quality: decreased length

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Fibroblast growth factor-1

Biological Process

fibroblast growth factor receptor signaling pathway
platelet aggregation

Molecular Function

fibroblast growth factor binding

Cellular Component

nucleus
mitochondrion
endomembrane system
membrane
nuclear speck

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338369
Coding exons: 10
Length: 4799
Individuals with no LoFs: 125726
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125748
p: 0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.03	181	224	0.807	0.0000132	2380
Missense (PolyPhen)		45	73.37	0.61333		858
Synonymous	-0.912	103	91.9	1.12	0.00000523	704
Loss of Function	1.44	11	17.5	0.629	8.29e-7	201

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity). {ECO:0000250|UniProtKB:Q6T938, ECO:0000269|PubMed:9806903}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

LoFtool: 0.846
RVIS EVS: -0.73
RVIS percentile EVS: 14.02

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.967

Gene Damage Prediction

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