FGF14

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

Basic information

Region (hg38): 13:101710803-102402457

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

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 (78 variants)
• Spinocerebellar ataxia type 27 (50 variants)
• Autosomal dominant cerebellar ataxia (14 variants)
• Inborn genetic diseases (13 variants)
• not specified (9 variants)
• Spinocerebellar ataxia 27A (3 variants)
• FGF14-related condition (2 variants)
• Spinocerebellar ataxia 27B, late-onset (1 variants)
• 18 conditions (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.

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			6	17	4	27
missense			27	3		30
nonsense	1		2			3
start loss						0
frameshift	1	2				3
inframe indel						0
splice donor/acceptor (+/-2bp)	1	2				3
splice region			3	1		4
non coding	2		26	19	26	73
Total	5	4	61	39	30

Highest pathogenic variant AF is 0.0000263

Variants in FGF14

This is a list of pathogenic ClinVar variants found in the FGF14 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-101714459-G-A		not specified	Uncertain significance (Aug 23, 2021)
13-101714524-G-A		not specified	Uncertain significance (Jun 29, 2023)
13-101715625-G-C		not specified	Uncertain significance (Dec 15, 2023)
13-101720883-G-A		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101720913-A-G		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101720941-T-TAATC		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)
13-101721059-G-T		Spinocerebellar ataxia type 27	Uncertain significance (Jan 12, 2018)
13-101721070-C-G		Spinocerebellar ataxia type 27	Uncertain significance (Jan 12, 2018)
13-101721090-A-G		Spinocerebellar ataxia type 27	Likely benign (Apr 27, 2017)
13-101721164-TGAG-T		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)
13-101721213-A-T		Spinocerebellar ataxia type 27	Benign (Jan 13, 2018)
13-101721218-CCAAA-C		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)
13-101721219-C-A		Spinocerebellar ataxia type 27	Benign (Jan 13, 2018)
13-101721384-T-TAA		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)
13-101721440-C-CTTTA		Autosomal dominant cerebellar ataxia	Benign (Jun 14, 2016)
13-101721535-T-G		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101721572-G-A		Spinocerebellar ataxia type 27	Benign/Likely benign (Oct 01, 2022)
13-101721580-C-T		Spinocerebellar ataxia type 27	Uncertain significance (Jan 12, 2018)
13-101721607-C-CTAAT		Autosomal dominant cerebellar ataxia	Conflicting classifications of pathogenicity (Oct 01, 2022)
13-101721632-T-C		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101721713-C-T		Spinocerebellar ataxia type 27	Likely benign (Jan 12, 2018)
13-101721759-C-T		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101721760-G-A		Spinocerebellar ataxia type 27	Uncertain significance (Jan 13, 2018)
13-101721768-C-T		Spinocerebellar ataxia type 27	Benign (Jan 12, 2018)
13-101721768-C-CGTTAA		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)

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