FGF11

fibroblast growth factor 11, the group of Fibroblast growth factor family

Basic information

Region (hg38): 17:7438272-7444937

Links

ENSG00000161958 ∙ NCBI:2256 ∙ OMIM:601514 ∙ HGNC:3667 ∙ Uniprot:Q92914 ∙ 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 FGF11 gene.

• Inborn genetic diseases (9 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF11 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					2	2
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	2

Variants in FGF11

This is a list of pathogenic ClinVar variants found in the FGF11 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-7439718-G-C		not specified	Uncertain significance (Aug 08, 2023)
17-7439730-C-T		not specified	Uncertain significance (Jun 21, 2022)
17-7439755-C-G		not specified	Uncertain significance (Feb 15, 2023)
17-7441491-G-C		Inborn genetic diseases	Uncertain significance (Dec 17, 2021)
17-7441516-G-A		not specified	Uncertain significance (May 26, 2023)
17-7441539-G-A		not specified	Uncertain significance (Dec 27, 2023)
17-7441560-C-G		not specified	Uncertain significance (Jul 12, 2022)
17-7442615-C-T		not specified	Uncertain significance (Aug 08, 2023)
17-7442647-C-T			Benign (Dec 31, 2019)
17-7442673-G-T		not specified	Uncertain significance (Oct 25, 2022)
17-7442705-G-A		not specified	Uncertain significance (Aug 15, 2023)
17-7442722-C-T			Benign (Dec 31, 2019)
17-7443117-G-C		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGF11	protein_coding	protein_coding	ENST00000293829	5	6665

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000188	0.727	125722	0	26	125748	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.368	115	127	0.908	0.00000756	1418
Missense in Polyphen		44	53.033	0.82968		620
Synonymous	0.740	43	49.6	0.866	0.00000269	460
Loss of Function	0.959	7	10.3	0.678	5.28e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000179	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000791	0.0000791
Middle Eastern	0.000435	0.000435
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably involved in nervous system development and function.
• Pathway: MAPK Signaling Pathway;ESC Pluripotency Pathways;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Regulation of Actin Cytoskeleton;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;FGF;GPCR signaling-G alpha s Epac and ERK;Phase 0 - rapid depolarisation;Cardiac conduction;Muscle contraction;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• loftool: 0.419
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

• pHI: 0.215
• hipred: N
• hipred_score: 0.476
• ghis: 0.674

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.136

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fgf11
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: signal transduction;cell-cell signaling;nervous system development;regulation of signaling receptor activity
• Cellular component: extracellular region
• Molecular function: growth factor activity