FGF14

protein-coding

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

Gene summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

MANE transcript

NM_004115.4

Inheritance

AD, AR

ClinVar variants

P:17U:66B:34

Top phenotype

Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onset

gnomAD constraint

pLI —, LoF o/e 0.08

Max pathogenic AF

—

Genomic locus

chr13:101,710,804-102,402,457

External References & Databases

Ensembl (ENSG00000102466)

Transcript & Mutation Effects

hg38 • Region Span ~691.7 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

spinocerebellar ataxia type 27STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0012247

Submitter: PanelApp Australia

spinocerebellar ataxia type 27SUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0012247

Submitter: Orphanet

autosomal recessive cerebellar ataxiaLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0015244

Submitter: Ambry Genetics

spinocerebellar ataxia type 27MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0012247

Submitter: Ambry Genetics

spinocerebellar ataxia 27ASTRONG

Inheritance Pattern: AD

Disease ID:MONDO:0008654

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onsetAD

Manifestation: Neurologic

Intervention: General

Rationale: 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

Refs: 12489043; 15470364; 21600715; 36516086

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to FGF14 variants in ClinVar

9 Conditions Cataloged

not providedTotal: 95

Inborn genetic diseasesTotal: 28

not specifiedTotal: 22

Spinocerebellar ataxia type 27Total: 18

Spinocerebellar ataxia 27ATotal: 14

FGF14-related disorderTotal: 9

Spinocerebellar ataxia 27B, late-onsetTotal: 3

Cerebellar ataxiaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004115.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	25 clinvar	2 clinvar	31
missense	2 clinvar		60 clinvar	7 clinvar		69
nonsense	3 clinvar		2 clinvar			5
start loss						0
frameshift	2 clinvar	6 clinvar				8
splice donor/acceptor (+/-2bp)	1 clinvar	3 clinvar				4
Total	8	9	66	32	2	117

Highest pathogenic variant AF is 6.887698e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 31 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004115.4	RefSeq	NP_004106.1	5	MANE Select
ENST00000376143.5	Ensembl	ENSP00000365313.4	5	MANE Select
NM_001321931.1	RefSeq	NP_001308860.1	4	Standard
NM_001321932.1	RefSeq	NP_001308861.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

MAPK Signaling Pathway
ESC Pluripotency Pathways
Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
PI3K-Akt Signaling Pathway
Regulation of Actin Cytoskeleton

Biological Process

signal transduction
cell-cell signaling
nervous system development
regulation of signaling receptor activity
regulation of synaptic plasticity

Molecular Function

protein binding
growth factor activity

Cellular Component

extracellular region
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000376131
Coding exons: 5
Length: 681991
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125717
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.76	75	132	0.568	0.00000644	1650
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably involved in nervous system development and function.;

Recessive Scores

pRec: 0.171

Intolerance Scores

LoFtool: 0.236
RVIS EVS: -0.01
RVIS percentile EVS: 53.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.352

Gene Damage Prediction

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