Fanconi anemia complementation group E

disease

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Also known as FACEFANCEFANCE Fanconi anaemiaFANCE Fanconi anemiaFanconi anaemia caused by mutation in FANCEFanconi anaemia complementation group type EFanconi anemia caused by mutation in FANCEFanconi anemia complementation group type EFanconi anemia, complementation group EFanconi Anemia, complementation group type E

Summary

Fanconi anemia complementation group E (MONDO:0010953) is a disease caused by FANCE (GenCC Definitive), with 1 cohort gene and 9 clinical trials. Top therapeutic interventions include prabotulinumtoxin a.

At a glance

Causal gene: FANCE (GenCC Definitive)
Cohort genes: 1
ClinVar variants: 777
Clinical trials: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Fanconi anemia complementation group E
Mondo ID	MONDO:0010953
OMIM	600901
DOID	DOID:0111084
NCIT	C125709
UMLS	C3160739
MedGen	463628
GARD	0015324
Is cancer (heuristic)	no

Also known as: FACE · face · FANCE · FANCE Fanconi anaemia · FANCE Fanconi anemia · Fanconi anaemia caused by mutation in FANCE · Fanconi anaemia complementation group type E · Fanconi anemia caused by mutation in FANCE · Fanconi anemia complementation group E · Fanconi anemia complementation group type E · Fanconi anemia, complementation group E · Fanconi Anemia, complementation group type E

Data availability: 777 ClinVar variants · 4 GenCC gene-disease records · 4 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › congenital anemia › Fanconi anemia › Fanconi anemia complementation group E

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

600 retrieved; paginated sample, class counts are floors:

258 likely benign, 235 uncertain significance, 27 conflicting classifications of pathogenicity, 27 likely pathogenic, 19 pathogenic, 15 pathogenic/likely pathogenic, 12 benign, 7 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1071416	NM_021922.3(FANCE):c.1096del (p.Ser366fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1074477	NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076390	NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)	FANCE	Pathogenic	criteria provided, multiple submitters, no conflicts
1179182	NM_021922.3(FANCE):c.524dup (p.Arg176fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1322887	NM_021922.3(FANCE):c.334del (p.Ser112fs)	FANCE	Pathogenic	criteria provided, multiple submitters, no conflicts
1338638	NM_021922.3(FANCE):c.164G>A (p.Trp55Ter)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
134335	NM_021922.3(FANCE):c.929del (p.Pro310fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1459995	NM_021922.3(FANCE):c.1239dup (p.Pro414fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2120238	NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)	FANCE	Pathogenic	criteria provided, single submitter
2581474	NM_021922.3(FANCE):c.339del (p.Leu114fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675532	NM_021922.3(FANCE):c.538del (p.Ser180fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675534	NM_021922.3(FANCE):c.1237+1G>A	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675537	NM_021922.3(FANCE):c.350_351del (p.Val117fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675542	NM_021922.3(FANCE):c.118del (p.Ala40fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2675546	NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)	FANCE	Pathogenic	criteria provided, multiple submitters, no conflicts
2675547	NM_021922.3(FANCE):c.635del (p.Glu212fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2696533	NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2714503	NM_021922.3(FANCE):c.209del (p.Glu70fs)	FANCE	Pathogenic	criteria provided, single submitter
2766431	NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)	FANCE	Pathogenic	criteria provided, single submitter
2800774	NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)	FANCE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2811601	NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)	FANCE	Pathogenic	criteria provided, single submitter
2835298	NM_021922.3(FANCE):c.931dup (p.Val311fs)	FANCE	Pathogenic	criteria provided, single submitter
2895459	NM_021922.3(FANCE):c.614_615del (p.Glu205fs)	FANCE	Pathogenic	criteria provided, single submitter
2902359	NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)	FANCE	Pathogenic	criteria provided, single submitter
2992250	NM_021922.3(FANCE):c.518dup (p.Arg176fs)	FANCE	Pathogenic	criteria provided, single submitter
3004167	NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)	FANCE	Pathogenic	criteria provided, single submitter
3008631	NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)	FANCE	Pathogenic	criteria provided, single submitter
3021048	NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)	FANCE	Pathogenic	criteria provided, single submitter
3246025	NC_000006.11:g.(?35420323)(35420590_?)del	FANCE	Pathogenic	criteria provided, single submitter
3609685	NM_021922.3(FANCE):c.1417dup (p.Met473fs)	FANCE	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
FANCE	Definitive	Autosomal recessive	Fanconi anemia complementation group E	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FANCE	Orphanet:84	Fanconi anemia

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
FANCE	HGNC:3586	ENSG00000112039	Q9HB96	Fanconi anemia group E protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FANCE	Fanconi anemia group E protein	As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair.

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)
FANCE	Other/Unknown	no		Fanconi_anaemia_gr_E_prot_C, FANCE

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
buccal mucosa cell	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FANCE	184	ubiquitous	marker	buccal mucosa cell, oocyte, secondary oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FANCE	2,857

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
FANCE	Q9HB96	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
Fanconi Anemia Pathway	1	278.5×	0.007	FANCE
PKR-mediated signaling	1	141.0×	0.007	FANCE

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
homeostasis of number of cells	1	674.1×	0.003	FANCE
interstrand cross-link repair	1	432.1×	0.003	FANCE
ovarian follicle development	1	391.9×	0.003	FANCE
gene expression	1	79.9×	0.013	FANCE

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
FANCE	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	FANCE

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)
FANCE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05840445	PHASE4	COMPLETED	Efficacy of Prabotulinum and Onabotulinum Toxin-A for Facial Wrinkles
NCT03926403	Not specified	RECRUITING	Evaluation of the Effectiveness of Hypnosis Support on Patient Perception of Outpatient Surgery Under Local Anaesthesia
NCT07277686	Not specified	RECRUITING	AI Facial Analysis Algorithm to Screening Coronary Artery Disease in High-Risk Community Population
NCT03369028	Not specified	COMPLETED	Fitting of Commonly Available Face Masks for Late Preterm and Term Infants
NCT04745247	Not specified	UNKNOWN	Stimulate the Face to Improve Tactile Acuity on the Hand
NCT04970290	Not specified	COMPLETED	Clinical and Instrumental Evaluation on Definisse Threads
NCT04980586	Not specified	COMPLETED	Cheeks Appearance as a Novel Predictor of Obstructive Sleep Apnea The CASA Score Study
NCT05177380	Not specified	UNKNOWN	Efficacy of a Personalized Rehabilitation Program of Facial Involvement in Systemic Sclerosis
NCT05400551	Not specified	UNKNOWN	Craneofacial Injuries in Rink Hockey Athletes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PRABOTULINUMTOXIN A	4	1

Cohort genes: FANCE
Drugs: Prabotulinumtoxin A