Frontotemporal dementia and/or amyotrophic lateral sclerosis 5

disease

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Also known as FTDALS5

Summary

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (MONDO:0030875) is a disease caused by CCNF (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: CCNF (GenCC Strong)
Cohort genes: 1
ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Mondo ID	MONDO:0030875
OMIM	619141
UMLS	C5436884
MedGen	1756201
GARD	0016427
Is cancer (heuristic)	no

Also known as: frontotemporal dementia and/or amyotrophic lateral sclerosis 5 · FTDALS5

Data availability: 11 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › spinal cord disorder › anterior horn disorder › amyotrophic lateral sclerosis › familial amyotrophic lateral sclerosis › frontotemporal dementia and/or amyotrophic lateral sclerosis 5

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

11 retrieved; paginated sample, class counts are floors:

7 uncertain significance, 2 pathogenic, 1 pathogenic/likely pathogenic, 1 no classifications from unflagged records

ClinVar	Variant (HGVS)	Gene	Classification	Review
992591	NM_001761.3(CCNF):c.1861A>G (p.Ser621Gly)	CCNF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
992593	NM_001761.3(CCNF):c.1175G>C (p.Arg392Thr)	CCNF	Pathogenic	no assertion criteria provided
992594	NM_001761.3(CCNF):c.1870G>A (p.Glu624Lys)	CCNF	Pathogenic	no assertion criteria provided
1805877	NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)	CCNF	Uncertain significance	criteria provided, single submitter
2441693	NM_001761.3(CCNF):c.205C>T (p.His69Tyr)	CCNF	Uncertain significance	criteria provided, single submitter
2585153	NM_001761.3(CCNF):c.62G>A (p.Arg21Gln)	CCNF	Uncertain significance	criteria provided, single submitter
2627498	NM_001761.3(CCNF):c.436G>A (p.Ala146Thr)	CCNF	Uncertain significance	criteria provided, single submitter
3362751	NM_001761.3(CCNF):c.1715G>T (p.Arg572Leu)	CCNF	Uncertain significance	criteria provided, single submitter
3385108	NM_001761.3(CCNF):c.1715G>A (p.Arg572Gln)	CCNF	Uncertain significance	criteria provided, multiple submitters, no conflicts
4277964	NM_001761.3(CCNF):c.905A>C (p.Gln302Pro)	CCNF	Uncertain significance	criteria provided, single submitter
992592	NM_001761.3(CCNF):c.585T>G (p.Ser195Arg)	CCNF	no classifications from unflagged records	no classifications from unflagged records

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CCNF	Strong	Autosomal dominant	frontotemporal dementia and/or amyotrophic lateral sclerosis 5	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CCNF	Orphanet:803	Amyotrophic lateral sclerosis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CCNF	HGNC:1591	ENSG00000162063	P41002	Cyclin-F	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CCNF	Cyclin-F	Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CCNF	Other/Unknown	no		F-box_dom, Cyclin_C-dom, Cyclin_N

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
hair follicle	1
olfactory bulb	1
type B pancreatic cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CCNF	213	ubiquitous	marker	type B pancreatic cell, olfactory bulb, hair follicle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CCNF	6,626

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CCNF	P41002	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Class I MHC mediated antigen processing & presentation	1	70.1×	0.059	CCNF
Neddylation	1	47.4×	0.059	CCNF
Antigen processing: Ubiquitination & Proteasome degradation	1	37.2×	0.059	CCNF
Adaptive Immune System	1	29.8×	0.059	CCNF
Post-translational protein modification	1	19.2×	0.073	CCNF
Immune System	1	13.0×	0.081	CCNF
Metabolism of proteins	1	12.4×	0.081	CCNF

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
re-entry into mitotic cell cycle	1	5617.3×	0.001	CCNF
negative regulation of centrosome duplication	1	3370.4×	0.001	CCNF
placenta development	1	443.5×	0.005	CCNF
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	1	374.5×	0.005	CCNF
G1/S transition of mitotic cell cycle	1	200.6×	0.008	CCNF
regulation of cell cycle	1	74.6×	0.018	CCNF
cell division	1	46.2×	0.024	CCNF
protein ubiquitination	1	41.4×	0.024	CCNF

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CCNF	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CCNF

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CCNF	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: CCNF