Epidermodysplasia verruciformis, susceptibility to, 5

Summary

Epidermodysplasia verruciformis, susceptibility to, 5 (MONDO:0032667) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	epidermodysplasia verruciformis, susceptibility to, 5
Mondo ID	MONDO:0032667
OMIM	618309
DOID	DOID:0061095, DOID:0061171
UMLS	C4749043
MedGen	1648489
Is cancer (heuristic)	no

Also known as: EV5

Data availability: 5 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › epidermodysplasia verruciformis, susceptibility to › epidermodysplasia verruciformis, susceptibility to, 5

Related subtypes (4): epidermodysplasia verruciformis, susceptibility to, 2, epidermodysplasia verruciformis, susceptibility to, 3, epidermodysplasia verruciformis, susceptibility to, 4, epidermodysplasia verruciformis, susceptibility to, 1

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

5 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
3384148	NM_000880.4(IL7):c.284del (p.Asn95fs)	IL7	Pathogenic	no assertion criteria provided
3384149	NM_000880.4(IL7):c.3G>A (p.Met1Ile)	IL7	Pathogenic	no assertion criteria provided
694068	NM_000880.4(IL7):c.205A>T (p.Arg69Ter)	IL7	Pathogenic	no assertion criteria provided
3042451	NM_000880.4(IL7):c.360+6C>T	IL7	Uncertain significance	criteria provided, single submitter
3595885	NM_000880.4(IL7):c.115A>G (p.Ser39Gly)	IL7	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · 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
IL7	Supportive	Autosomal recessive	epidermodysplasia verruciformis	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IL7	Orphanet:302	Inherited epidermodysplasia verruciformis

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
IL7	HGNC:6023	ENSG00000104432	P13232	Interleukin-7	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL7	Interleukin-7	Hematopoietic cytokine that plays an essential role in the development, expansion, and survival of naive and memory T-cells and B-cells thereby regulating the number of mature lymphocytes and maintaining lymphoid homeostasis.

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)
IL7	Other/Unknown	no		IL-7, IL-7/IL-9_CS, IL7_sf

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
bronchial epithelial cell	1
male germ cell	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL7	217	broad	marker	sperm, male germ cell, bronchial epithelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL7	2,611

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IL7	P13232	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
Interleukin-7 signaling	1	317.2×	0.003	IL7

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
T cell lineage commitment	1	3370.4×	0.004	IL7
interleukin-7-mediated signaling pathway	1	2106.5×	0.004	IL7
positive regulation of cytokine-mediated signaling pathway	1	1685.2×	0.004	IL7
positive regulation of organ growth	1	1404.3×	0.004	IL7
positive regulation of B cell differentiation	1	1123.5×	0.004	IL7
organ growth	1	732.7×	0.004	IL7
bone resorption	1	581.1×	0.004	IL7
B cell proliferation	1	481.5×	0.004	IL7
positive regulation of T cell differentiation	1	455.5×	0.004	IL7
homeostasis of number of cells within a tissue	1	443.5×	0.004	IL7
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	1	411.0×	0.004	IL7
positive regulation of chemokine production	1	374.5×	0.004	IL7
positive regulation of B cell proliferation	1	343.9×	0.004	IL7
extrinsic apoptotic signaling pathway	1	306.4×	0.005	IL7
humoral immune response	1	280.9×	0.005	IL7
animal organ morphogenesis	1	191.5×	0.007	IL7
cytokine-mediated signaling pathway	1	130.6×	0.009	IL7
cell-cell signaling	1	69.6×	0.016	IL7
negative regulation of apoptotic process	1	34.8×	0.030	IL7
positive regulation of cell population proliferation	1	33.6×	0.030	IL7

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
IL7	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	IL7

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)
IL7	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.