diffuse astrocytoma, MYB- or MYBL1-altered

Summary

diffuse astrocytoma, MYB- or MYBL1-altered (MONDO:0859615) is a disease with 2 cohort genes.

At a glance

• Cohort genes: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	diffuse astrocytoma, MYB- or MYBL1-altered
Mondo ID	MONDO:0859615
DOID	DOID:0081279
GARD	0026758
Is cancer (heuristic)	no

Disease family

Classification path: cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › astrocytic tumor › astrocytoma (excluding glioblastoma) › low-grade astrocytoma › diffuse astrocytoma › diffuse astrocytoma, MYB- or MYBL1-altered

Related subtypes (3): protoplasmic astrocytoma, fibrillary astrocytoma, gemistocytic astrocytoma

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MYB	Orphanet:251671	Angiocentric glioma
MYB	Orphanet:86849	Acute basophilic leukemia
MYB	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MYB	HGNC:7545	ENSG00000118513	P10242	Transcriptional activator Myb	civic_evidence
MYBL1	HGNC:7547	ENSG00000185697	P10243	Myb-related protein A	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MYB	Transcriptional activator Myb	Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5’-YAAC[GT]G-3'.
MYBL1	Myb-related protein A	Transcription factor that specifically recognizes the sequence 5’-YAAC[GT]G-3'.

Protein-family classification

Druggable: 0 · Difficult: 2 · 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	2	8.3×	0.015

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MYB	Transcription factor	no		SANT/Myb, Homeodomain-like_sf, Tscrpt_reg_Wos2-domain
MYBL1	Transcription factor	no		SANT/Myb, Homeodomain-like_sf, Tscrpt_reg_Wos2-domain

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	1
epithelium of bronchus	1
mucosa of sigmoid colon	1
calcaneal tendon	1
sperm	1
vena cava	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MYB	183	broad	marker	mucosa of sigmoid colon, bronchial epithelial cell, epithelium of bronchus
MYBL1	257	ubiquitous	marker	calcaneal tendon, vena cava, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYB	3,155
MYBL1	2,087

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MYB	P10242	59.16
MYBL1	P10243	58.19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Specification of the neural plate border	1	317.2×	0.024	MYB
PIWI-interacting RNA (piRNA) biogenesis	1	196.9×	0.024	MYBL1
Gene Silencing by RNA	1	178.4×	0.024	MYBL1
Gene expression (Transcription)	2	17.8×	0.024	MYB, MYBL1
Gastrulation	1	129.8×	0.026	MYB
Transcriptional regulation by RUNX1	1	73.2×	0.034	MYB
ESR-mediated signaling	1	64.2×	0.034	MYB
Transcriptional regulation of granulopoiesis	1	62.8×	0.034	MYB
Signaling by Nuclear Receptors	1	51.0×	0.036	MYB
RUNX1 regulates transcription of genes involved in differentiation of HSCs	1	47.6×	0.036	MYB
Estrogen-dependent gene expression	1	37.8×	0.041	MYB
Factors involved in megakaryocyte development and platelet production	1	33.2×	0.042	MYB
Hemostasis	1	18.0×	0.072	MYB
RNA Polymerase II Transcription	1	11.3×	0.105	MYB
Generic Transcription Pathway	1	7.5×	0.142	MYB
Developmental Biology	1	7.2×	0.142	MYB
Signal Transduction	1	5.1×	0.187	MYB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
mitotic cell cycle	2	133.8×	0.002	MYB, MYBL1
positive regulation of piRNA transcription	1	8426.0×	0.002	MYBL1
positive regulation of hepatic stellate cell proliferation	1	2808.7×	0.003	MYB
positive regulation of testosterone secretion	1	2808.7×	0.003	MYB
myeloid cell development	1	2106.5×	0.003	MYB
negative regulation of hematopoietic progenitor cell differentiation	1	2106.5×	0.003	MYB
skeletal muscle cell proliferation	1	1685.2×	0.003	MYB
positive regulation of hepatic stellate cell activation	1	1404.3×	0.003	MYB
positive regulation of transforming growth factor beta production	1	1053.2×	0.004	MYB
stem cell division	1	936.2×	0.004	MYB
T-helper 2 cell differentiation	1	936.2×	0.004	MYB
positive regulation of DNA-templated transcription	2	27.9×	0.004	MYB, MYBL1
embryonic digestive tract development	1	495.6×	0.006	MYB
cellular response to interleukin-6	1	495.6×	0.006	MYB
negative regulation of megakaryocyte differentiation	1	443.5×	0.006	MYB
positive regulation of glial cell proliferation	1	351.1×	0.007	MYB
positive regulation of collagen biosynthetic process	1	324.1×	0.007	MYB
male meiosis I	1	290.6×	0.007	MYBL1
positive regulation of transcription by RNA polymerase II	2	14.9×	0.009	MYB, MYBL1
spleen development	1	200.6×	0.010	MYB
thymus development	1	168.5×	0.011	MYB
positive regulation of smooth muscle cell proliferation	1	165.2×	0.011	MYB
positive regulation of miRNA transcription	1	145.3×	0.012	MYB
positive regulation of neuron apoptotic process	1	135.9×	0.012	MYB
erythrocyte differentiation	1	133.8×	0.012	MYB
response to ischemia	1	125.8×	0.012	MYB
cellular response to hydrogen peroxide	1	117.0×	0.012	MYB
cellular response to retinoic acid	1	117.0×	0.012	MYB
B cell differentiation	1	109.4×	0.012	MYB
G1/S transition of mitotic cell cycle	1	100.3×	0.013	MYB

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYB	0	0
MYBL1	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
MYB	7	Binding:7

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	MYB, MYBL1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MYB	7	—
MYBL1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.