FGF14

fibroblast growth factor 14, the group of MicroRNA protein coding host genes|Fibroblast growth factor family

Basic information

Region (hg38): 13:101710804-102402457

Links

ENSG00000102466 ∙ NCBI:2259 ∙ OMIM:601515 ∙ HGNC:3671 ∙ Uniprot:Q92915 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• spinocerebellar ataxia type 27 (Moderate), mode of inheritance: AD
• spinocerebellar ataxia type 27 (Supportive), mode of inheritance: AD
• spinocerebellar ataxia 27A (Strong), mode of inheritance: AD
• autosomal recessive cerebellar ataxia (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onset	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	12489043; 15470364; 21600715; 36516086

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FGF14 gene.

• not_provided (80 variants)
• Inborn_genetic_diseases (25 variants)
• Spinocerebellar_ataxia_type_27 (18 variants)
• Spinocerebellar_ataxia_27A (11 variants)
• not_specified (11 variants)
• FGF14-related_disorder (7 variants)
• Cerebellar_ataxia (1 variants)
• Spinocerebellar_ataxia_27B,_late-onset (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FGF14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004115.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			5	20	3	28
missense	1		52	4		57
nonsense	3		2			5
start loss						0
frameshift	3	4				7
splice donor/acceptor (+/-2bp)	1	3				4
Total	8	7	59	24	3

Highest pathogenic variant AF is 6.887698e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FGF14	protein_coding	protein_coding	ENST00000376131	5	681991

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.909	0.0910	125715	0	2	125717	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.76	75	132	0.568	0.00000644	1650
Missense in Polyphen		4	32.777	0.12204		419
Synonymous	0.264	48	50.4	0.953	0.00000261	462
Loss of Function	2.96	1	12.1	0.0826	5.96e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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: 0.171

Intolerance Scores

• loftool: 0.236
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.51

Haploinsufficiency Scores

• pHI: 0.798
• hipred: Y
• hipred_score: 0.727
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.352

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fgf14
• Phenotype: muscle phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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)

Gene ontology

• Biological process: signal transduction;cell-cell signaling;nervous system development;regulation of signaling receptor activity;regulation of synaptic plasticity;regulation of postsynaptic membrane potential;positive regulation of high voltage-gated calcium channel activity;regulation of synaptic vesicle recycling
• Cellular component: extracellular region;nucleus
• Molecular function: protein binding;growth factor activity