FGF11

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

Basic information

Region (hg38): 17:7438273-7444937

Links

ENSG00000161958NCBI:2256OMIM:601514HGNC:3667Uniprot:Q92914AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGF11 gene.

  • not_specified (30 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. These statistics are base on transcript: NM_000004112.4. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
30
clinvar
30
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 0 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FGF11protein_codingprotein_codingENST00000293829 56665
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001880.7271257220261257480.000103
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3681151270.9080.000007561418
Missense in Polyphen4453.0330.82968620
Synonymous0.7404349.60.8660.00000269460
Loss of Function0.959710.30.6785.28e-7116

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001790.000177
Ashkenazi Jewish0.000.00
East Asian0.0004350.000435
Finnish0.00004620.0000462
European (Non-Finnish)0.00007910.0000791
Middle Eastern0.0004350.000435
South Asian0.00006530.0000653
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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