Wilms tumor 7

Summary

Wilms tumor 7 (MONDO:0979876) is a cancer with 1 cohort gene.

At a glance

• Classification: Cancer
• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Wilms tumor 7
Mondo ID	MONDO:0979876
OMIM	621332
GARD	0028125
Is cancer (heuristic)	yes

Data availability: 5 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary Wilms tumor › Wilms tumor 7

Related subtypes (6): Wilms tumor 1, Wilms tumor 2, Wilms tumor 3, Wilms tumor 4, Wilms tumor 5, Wilms tumor 6

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:

4 pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
4082139	NM_005762.3(TRIM28):c.525_526del (p.Glu175fs)	TRIM28	Pathogenic	no assertion criteria provided
4082140	NM_005762.3(TRIM28):c.1746_1747delinsC (p.Glu583fs)	TRIM28	Pathogenic	no assertion criteria provided
4082141	NM_005762.3(TRIM28):c.1015C>T (p.Gln339Ter)	TRIM28	Pathogenic	no assertion criteria provided
4082142	G310D	TRIM28	Pathogenic	no assertion criteria provided
4819547	NM_005762.3(TRIM28):c.605A>T (p.Asp202Val)	TRIM28	Likely benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TRIM28	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
TRIM28	HGNC:16384	ENSG00000130726	Q13263	Transcription intermediary factor 1-beta	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TRIM28	Transcription intermediary factor 1-beta	Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs).

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)
TRIM28	Transcription factor	no		Znf_B-box, Bromodomain, Znf_RING

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
left testis	1
right testis	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TRIM28	145	ubiquitous	marker	left testis, right testis, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIM28	8,167

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TRIM28	Q13263	10

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 16. 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
Regulation of endogenous retroelements	1	368.4×	0.020	TRIM28
HCMV Infection	1	326.3×	0.020	TRIM28
SUMOylation of transcription cofactors	1	243.0×	0.020	TRIM28
SUMO E3 ligases SUMOylate target proteins	1	178.4×	0.020	TRIM28
SUMOylation	1	163.1×	0.020	TRIM28
Regulation of endogenous retroelements by KRAB-ZFP proteins	1	106.7×	0.025	TRIM28
HCMV Early Events	1	81.0×	0.028	TRIM28
Epigenetic regulation of gene expression	1	71.4×	0.028	TRIM28
Viral Infection Pathways	1	30.8×	0.058	TRIM28
Infectious disease	1	24.8×	0.064	TRIM28
RNA Polymerase II Transcription	1	22.5×	0.065	TRIM28
Post-translational protein modification	1	19.2×	0.069	TRIM28
Gene expression (Transcription)	1	17.8×	0.069	TRIM28
Generic Transcription Pathway	1	15.1×	0.076	TRIM28
Disease	1	13.1×	0.081	TRIM28
Metabolism of proteins	1	12.4×	0.081	TRIM28

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
convergent extension involved in axis elongation	1	3370.4×	0.003	TRIM28
embryonic placenta morphogenesis	1	3370.4×	0.003	TRIM28
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	1	1532.0×	0.004	TRIM28
suppression of viral release by host	1	991.3×	0.004	TRIM28
genomic imprinting	1	991.3×	0.004	TRIM28
DNA methylation-dependent constitutive heterochromatin formation	1	543.6×	0.005	TRIM28
positive regulation of protein import into nucleus	1	421.3×	0.005	TRIM28
positive regulation of DNA repair	1	358.6×	0.005	TRIM28
embryo implantation	1	351.1×	0.005	TRIM28
protein sumoylation	1	324.1×	0.005	TRIM28
epithelial to mesenchymal transition	1	312.1×	0.005	TRIM28
chromatin organization	1	99.1×	0.015	TRIM28
DNA repair	1	63.8×	0.022	TRIM28
proteasome-mediated ubiquitin-dependent protein catabolic process	1	52.2×	0.025	TRIM28
innate immune response	1	33.6×	0.036	TRIM28
negative regulation of DNA-templated transcription	1	31.6×	0.036	TRIM28
positive regulation of DNA-templated transcription	1	27.9×	0.038	TRIM28
negative regulation of transcription by RNA polymerase II	1	17.7×	0.056	TRIM28

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TRIM28	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TRIM28	19	Binding:19

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	TRIM28

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)
TRIM28	19	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.