Granular cell cancer

Summary

Granular cell cancer (MONDO:0003252) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record).

At a glance

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

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	granular cell cancer
Mondo ID	MONDO:0003252
DOID	DOID:5042
NCIT	C4336
SNOMED CT	404041003
UMLS	C0334618
MedGen	87276
GARD	0023423
Is cancer (heuristic)	yes

Also known as: granular cell tumor, malignant · granular cell tumor, malignant (morphologic abnormality) · malignant granular cell myoblastoma · malignant granular cell neoplasm · malignant granular cell tumor · malignant granular cell tumour · myoblastoma, malignant

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral nervous system neoplasm › nerve sheath neoplasm › granular cell tumor › granular cell cancer

Related subtypes (8): cutaneous granular cell tumor, breast granular cell tumor, benign granular cell tumor, esophageal granular cell tumor, vulvar granular cell tumor, mediastinal granular cell myoblastoma, neurohypophysis granular cell tumor, congenital epulis

Subtypes (4): malignant gastric granular cell tumor, granular cell carcinoma, granular cell leiomyosarcoma, malignant cutaneous granular cell skin tumor

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

1 retrieved; paginated sample, class counts are floors:

1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
208203	NM_013263.5(BRD7):c.1834C>T (p.Arg612Ter)	BRD7	Likely pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
BRD7	LoF	HCC,MEL

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
BRD7	HGNC:14310	ENSG00000166164	Q9NPI1	Bromodomain-containing protein 7	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BRD7	Bromodomain-containing protein 7	Acts both as coactivator and as corepressor.

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)
BRD7	Other/Unknown	no		Bromodomain, DUF3512, Bromodomain-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
ganglionic eminence	1
sural nerve	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BRD7	217	ubiquitous	marker	sural nerve, ventricular zone, ganglionic eminence

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BRD7	3,062

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
BRD7	Q9NPI1	11

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
Formation of the polybromo-BAF (pBAF) complex	1	634.4×	0.008	BRD7
Regulation of TP53 Activity through Acetylation	1	456.8×	0.008	BRD7
Regulation of TP53 Activity	1	132.8×	0.018	BRD7
Transcriptional Regulation by TP53	1	62.1×	0.028	BRD7
RNA Polymerase II Transcription	1	22.5×	0.062	BRD7
Gene expression (Transcription)	1	17.8×	0.065	BRD7
Generic Transcription Pathway	1	15.1×	0.066	BRD7

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
regulation of G0 to G1 transition	1	674.1×	0.005	BRD7
regulation of nucleotide-excision repair	1	601.9×	0.005	BRD7
regulation of mitotic metaphase/anaphase transition	1	495.6×	0.005	BRD7
positive regulation of T cell differentiation	1	455.5×	0.005	BRD7
transcription initiation-coupled chromatin remodeling	1	383.0×	0.005	BRD7
positive regulation of myoblast differentiation	1	366.4×	0.005	BRD7
negative regulation of G1/S transition of mitotic cell cycle	1	358.6×	0.005	BRD7
positive regulation of double-strand break repair	1	343.9×	0.005	BRD7
regulation of G1/S transition of mitotic cell cycle	1	306.4×	0.005	BRD7
positive regulation of cell differentiation	1	267.5×	0.006	BRD7
regulation of mitotic cell cycle	1	240.7×	0.006	BRD7
Wnt signaling pathway	1	99.7×	0.013	BRD7
chromatin remodeling	1	73.0×	0.016	BRD7
negative regulation of DNA-templated transcription	1	31.6×	0.034	BRD7
regulation of transcription by RNA polymerase II	1	11.7×	0.086	BRD7

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
BRD7	SUNITINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BRD7	1	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
SUNITINIB	4	BRD7

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
BRD7	152	Binding:146, ADMET:3, Functional:3

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
BRD7	152

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

1 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.

Compound	Max phase	Cohort target (bioactivity)
SUNITINIB	4	BRD7

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	BRD7
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.