Wilms tumor 5

Summary

Wilms tumor 5 (MONDO:0011112) is a cancer with 1 cohort gene.

At a glance

• Classification: Cancer
• Cohort genes: 1
• ClinVar variants: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Wilms tumor 5
Mondo ID	MONDO:0011112
MeSH	C536707
OMIM	601583
UMLS	C1832099
MedGen	316905
GARD	0015336
Is cancer (heuristic)	yes

Also known as: bilateral radial aplasia with Wilms tumor · bilateral radial aplasia with Wilms tumour · Wilms tumor 5 · Wilms tumor and radial bilateral aplasia · Wilms tumor susceptibility-5, autosomal dominant, somatic mutation · Wilms tumor type 5 · Wilms tumour and radial bilateral aplasia · Wilms tumour susceptibility-5, autosomal dominant, somatic mutation · Wilms tumour type 5 · WT5

Data availability: 8 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary Wilms tumor › Wilms tumor 5

Related subtypes (6): Wilms tumor 1, Wilms tumor 2, Wilms tumor 3, Wilms tumor 4, Wilms tumor 6, Wilms tumor 7

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

8 retrieved; paginated sample, class counts are floors:

5 uncertain significance, 2 pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1871	NM_001370959.1(POU6F2):c.660G>T (p.Gln220His)	POU6F2	Pathogenic	no assertion criteria provided
1872	NM_001370959.1(POU6F2):c.62C>G (p.Ser21Ter)	POU6F2	Pathogenic	no assertion criteria provided
3780483	NM_001370959.1(POU6F2):c.620AGCTCCAGC[3] (p.Gln212_Leu213insGlnLeuGln)	POU6F2	Uncertain significance	criteria provided, single submitter
3892162	NM_001370959.1(POU6F2):c.460T>G (p.Phe154Val)	POU6F2	Uncertain significance	criteria provided, single submitter
3892163	NM_001370959.1(POU6F2):c.637_638insA (p.Leu213fs)	POU6F2	Uncertain significance	criteria provided, single submitter
3892164	NM_001370959.1(POU6F2):c.639_640insAG (p.Gln214fs)	POU6F2	Uncertain significance	criteria provided, single submitter
3892165	NM_001370959.1(POU6F2):c.647AGC[11] (p.Gln225_Pro226insGln)	POU6F2	Uncertain significance	criteria provided, single submitter
4688069	NM_001370959.1(POU6F2):c.607T>A (p.Ser203Thr)	POU6F2	Likely benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · 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
POU6F2	Limited	Unknown	Wilms tumor 5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
POU6F2	Orphanet:654	Nephroblastoma

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
POU6F2	HGNC:21694	ENSG00000106536	P78424	POU domain, class 6, transcription factor 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
POU6F2	POU domain, class 6, transcription factor 2	Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
POU6F2	Transcription factor	no		POU_dom, HD, Homeodomain-like_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
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
POU6F2	108	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
POU6F2	1,413

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
POU6F2	P78424	48.31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
ganglion mother cell fate determination	1	8426.0×	6e-04	POU6F2
central nervous system development	1	115.4×	0.021	POU6F2
visual perception	1	79.5×	0.021	POU6F2
regulation of DNA-templated transcription	1	31.6×	0.040	POU6F2
regulation of transcription by RNA polymerase II	1	11.7×	0.086	POU6F2

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
POU6F2	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).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

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	POU6F2

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)
POU6F2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.