FIBP

FGF1 intracellular binding protein

Basic information

Region (hg38): 11:65883740-65888531

Links

ENSG00000172500 ∙ NCBI:9158 ∙ OMIM:608296 ∙ HGNC:3705 ∙ Uniprot:O43427 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• tall stature-intellectual disability-renal anomalies syndrome (Supportive), mode of inheritance: AR
• tall stature-intellectual disability-renal anomalies syndrome (Strong), mode of inheritance: AR
• tall stature-intellectual disability-renal anomalies syndrome (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Thauvin-Robinet-Faivre syndrome	AR	Cardiovascular; Oncologic	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	Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic; Renal	26660953; 27183861

ClinVar

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

• Inborn_genetic_diseases (50 variants)
• not_provided (19 variants)
• Tall_stature-intellectual_disability-renal_anomalies_syndrome (10 variants)
• FIBP-related_disorder (5 variants)
• Large_hands (1 variants)
• Congenital_ocular_coloboma (1 variants)
• Overgrowth (1 variants)
• Congenital_anomaly_of_face (1 variants)
• Macrocephaly (1 variants)
• Learning_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FIBP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004214.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				12	3	15
missense			52	1	1	54
nonsense		1	2			3
start loss						0
frameshift		2	1			3
splice donor/acceptor (+/-2bp)		1	2			3
Total	0	4	57	13	4

Highest pathogenic variant AF is 0.000003340694

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FIBP	protein_coding	protein_coding	ENST00000338369	10	4799

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000439	0.852	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	181	224	0.807	0.0000132	2380
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000337	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000165	0.000163

dbNSFP

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}.
• Pathway: Fibroblast growth factor-1 (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.846
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.02

Haploinsufficiency Scores

• pHI: 0.0669
• hipred: N
• hipred_score: 0.447
• ghis: 0.602

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.967

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fibp

Zebrafish Information Network

• Gene name: fibpb
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: fibroblast growth factor receptor signaling pathway;platelet aggregation
• Cellular component: nucleus;mitochondrion;endomembrane system;membrane;nuclear speck
• Molecular function: fibroblast growth factor binding