diffuse glioma, H3 G34 mutant
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Summary
diffuse glioma, H3 G34 mutant (MONDO:0957197) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver).
At a glance
- Classification: Cancer
- Cohort genes: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | diffuse glioma, H3 G34 mutant |
| Mondo ID | MONDO:0957197 |
| DOID | DOID:0080880 |
| GARD | 0026786 |
| Is cancer (heuristic) | yes |
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › diffuse glioma, H3 G34 mutant
Related subtypes (8): nerve sheath neoplasm, ependymal tumor, mixed glioma, optic pathway glioma, astroblastoma, astrocytic tumor, low grade glioma, malignant glioma
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
No tiered GWAS variants or ClinVar records for this disease.
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 |
|---|---|---|---|
| H3-3A | Act | HGGNOS,PAST | CIViC #2537 |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| civic_only | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| H3-3A | HGNC:4764 | ENSG00000163041 | P84243 | Histone H3.3 | civic_evidence |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| H3-3A | Histone H3.3 | Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. |
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) |
|---|---|---|---|---|
| H3-3A | Other/Unknown | no | Histone_H3/CENP-A, H2A/H2B/H3, Histone-fold |
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 |
| monocyte | 1 |
| ventricular zone | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| H3-3A | 134 | ubiquitous | marker | ganglionic eminence, monocyte, ventricular zone |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| H3-3A | 1,595 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| H3-3A | P84243 | 103 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 39. 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 |
|---|---|---|---|---|
| Replacement of protamines by nucleosomes in the male pronucleus | 1 | 271.9× | 0.012 | H3-3A |
| RNA Polymerase I Promoter Opening | 1 | 184.2× | 0.012 | H3-3A |
| DNA methylation | 1 | 178.4× | 0.012 | H3-3A |
| FXIIa activates plasma kallikrein-kinin system | 1 | 173.0× | 0.012 | H3-3A |
| SIRT1 negatively regulates rRNA expression | 1 | 170.4× | 0.012 | H3-3A |
| Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | 1 | 167.9× | 0.012 | H3-3A |
| Inhibition of DNA recombination at telomere | 1 | 167.9× | 0.012 | H3-3A |
| Assembly of the ORC complex at the origin of replication | 1 | 165.5× | 0.012 | H3-3A |
| Chromatin modifications during the maternal to zygotic transition (MZT) | 1 | 163.1× | 0.012 | H3-3A |
| Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex | 1 | 163.1× | 0.012 | H3-3A |
| Condensation of Prophase Chromosomes | 1 | 156.4× | 0.012 | H3-3A |
| Defective pyroptosis | 1 | 156.4× | 0.012 | H3-3A |
| PRC2 methylates histones and DNA | 1 | 152.3× | 0.012 | H3-3A |
| ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression | 1 | 152.3× | 0.012 | H3-3A |
| CHD6, CHD7, CHD8, CHD9 subfamily | 1 | 148.3× | 0.012 | H3-3A |
| Transcriptional regulation by small RNAs | 1 | 144.6× | 0.012 | H3-3A |
| NuRD complex assembly | 1 | 141.0× | 0.012 | H3-3A |
| Meiotic recombination | 1 | 129.8× | 0.012 | H3-3A |
| Interaction of NuRD complexes with transcription factors | 1 | 126.9× | 0.012 | H3-3A |
| Transcriptional regulation of granulopoiesis | 1 | 125.5× | 0.012 | H3-3A |
| Pre-NOTCH Transcription and Translation | 1 | 122.8× | 0.012 | H3-3A |
| B-WICH complex positively regulates rRNA expression | 1 | 121.5× | 0.012 | H3-3A |
| RNA Polymerase I Promoter Escape | 1 | 121.5× | 0.012 | H3-3A |
| Formation of the beta-catenin:TCF transactivating complex | 1 | 120.2× | 0.012 | H3-3A |
| RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function | 1 | 120.2× | 0.012 | H3-3A |
| Negative Regulation of CDH1 Gene Transcription | 1 | 120.2× | 0.012 | H3-3A |
| Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) | 1 | 117.7× | 0.012 | H3-3A |
| Regulation of PD-L1(CD274) transcription | 1 | 108.8× | 0.012 | H3-3A |
| CHD1 and CHD2 subfamily | 1 | 108.8× | 0.012 | H3-3A |
| Regulation of endogenous retroelements by KRAB-ZFP proteins | 1 | 106.7× | 0.012 | H3-3A |
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 |
|---|---|---|---|---|
| negative regulation of chromosome condensation | 1 | 4213.0× | 0.002 | H3-3A |
| pericentric heterochromatin formation | 1 | 3370.4× | 0.002 | H3-3A |
| subtelomeric heterochromatin formation | 1 | 1532.0× | 0.003 | H3-3A |
| muscle cell differentiation | 1 | 842.6× | 0.004 | H3-3A |
| telomere organization | 1 | 624.1× | 0.004 | H3-3A |
| oocyte maturation | 1 | 601.9× | 0.004 | H3-3A |
| nucleus organization | 1 | 561.7× | 0.004 | H3-3A |
| embryo implantation | 1 | 351.1× | 0.006 | H3-3A |
| single fertilization | 1 | 183.2× | 0.008 | H3-3A |
| positive regulation of cell growth | 1 | 183.2× | 0.008 | H3-3A |
| male gonad development | 1 | 156.0× | 0.008 | H3-3A |
| spermatid development | 1 | 145.3× | 0.008 | H3-3A |
| nucleosome assembly | 1 | 140.4× | 0.008 | H3-3A |
| multicellular organism growth | 1 | 137.0× | 0.008 | H3-3A |
| osteoblast differentiation | 1 | 121.2× | 0.009 | H3-3A |
| cell population proliferation | 1 | 102.8× | 0.010 | H3-3A |
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 |
|---|---|---|
| H3-3A | 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 |
|---|---|---|
| H3-3A | 6 | Binding:6 |
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 | H3-3A |
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) |
|---|---|---|
| H3-3A | 6 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: H3-3A