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Atlas / Disease / B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like

B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like

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Summary

B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like (MONDO:0850161) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver). Molecularly, EBF1::PDGFRB Fusion confers sensitivity to Imatinib in B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like (CIViC Level C); 20 further subtype–drug associations are mapped below.

At a glance

  • Classification: Cancer
  • Cohort genes: 1
  • Precision-medicine evidence (CIViC): 21 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameB-lymphoblastic leukemia/lymphoma, BCR-ABL1–like
Mondo IDMONDO:0850161
DOIDDOID:0080650
NCITC129787
GARD0026586
Is cancer (heuristic)yes

Disease family

Classification path: disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › lymphoid neoplasm › precursor lymphoblastic lymphoma/leukemia › acute lymphoblastic leukemia › B-cell acute lymphoblastic leukemia › B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like

Related subtypes (15): B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1), B-lymphoblastic leukemia/lymphoma MLL rearranged, B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1, B-lymphoblastic leukemia/lymphoma with IL3-IGH, B-lymphoblastic leukemia/lymphoma with IAMP21, B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2), B-lymphoblastic leukemia/lymphoma with t(17;19), B acute lymphoblastic leukemia with PAX5 P80R mutation, B acute lymphoblastic leukemia with DUX4 rearrangement, B-lymphoblastic leukemia with MEF2D rearrangement, B-lymphoblastic leukemia with MYC rearrangement, B-lymphoblastic leukemia with NUTM1 rearrangement, B-lymphoblastic leukemia with PAX5alt, B-lymphoblastic leukemia with TCF3-HLF fusion, B-lymphoblastic leukemia with ZNF384 rearrangement

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

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
EPORCIViC #1728

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
EPOROrphanet:90042Primary familial polycythemia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
civic_only1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
EPORHGNC:3416ENSG00000187266P19235Erythropoietin receptorcivic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
EPORErythropoietin receptorReceptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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.

FamilyGenesFoldFDR
Antibody/Immunoglobulin129.2×0.034

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
EPORAntibody/ImmunoglobulinyesLong_hematopoietin_rcpt_CS, FN3_dom, Erythropoietin_rcpt

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
left lobe of thyroid gland1
olfactory bulb1
type B pancreatic cell1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
EPOR268ubiquitousmarkertype B pancreatic cell, olfactory bulb, left lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
EPOR1,563

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
EPORP1923522

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. 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.

PathwayCohort genesFoldFDRSample cohort genes
Erythropoietin activates Phospholipase C gamma (PLCG)11631.4×0.001EPOR
Erythropoietin activates STAT511631.4×0.001EPOR
Signaling by Erythropoietin11038.2×0.001EPOR
Erythropoietin activates Phosphoinositide-3-kinase (PI3K)1951.7×0.001EPOR
Erythropoietin activates RAS1761.3×0.001EPOR

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 termCohort genesFoldFDRSample cohort genes
erythropoietin-mediated signaling pathway12808.7×0.002EPOR
decidualization1674.1×0.004EPOR
brain development179.5×0.016EPOR
heart development178.8×0.016EPOR
signal transduction116.1×0.062EPOR

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

SymbolMoleculesMax phase
EPOR00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
EPOR9Binding:9

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):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug1EPOR
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
EPOR9—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 21 predictive associations from 23 curated evidence items; also 79 diagnostic, 9 oncogenic, 4 prognostic.

Molecular subtypeTherapyEffectLevelCIViC
EBF1::PDGFRB FusionImatinibSensitivity/ResponseCIViC CEID1310 +2
ABL2 FusionImatinibSensitivity/ResponseCIViC CEID7250
BCR::PDGFRA FusionChemotherapy + ImatinibSensitivity/ResponseCIViC CEID12582
EBF1::PDGFRB FusionDasatinib + ImatinibSensitivity/ResponseCIViC CEID7128
EBF1::PDGFRB FusionImatinib + ChemotherapySensitivity/ResponseCIViC CEID8260
FIP1L1::PDGFRA FusionImatinib + ChemotherapySensitivity/ResponseCIViC CEID12565
FOXP1::ABL1 FusionDasatinibSensitivity/ResponseCIViC CEID7292
GOLGA5::JAK2 FusionRuxolitinibSensitivity/ResponseCIViC CEID7007
MEF2D::CSF1R FusionImatinibSensitivity/ResponseCIViC CEID9360
NUP214::ABL1 FusionVincristine + Dexamethasone + DasatinibSensitivity/ResponseCIViC CEID7208
RANBP2::ABL1 FusionDasatinibSensitivity/ResponseCIViC CEID9211
RCSD1::ABL1 FusionImatinibSensitivity/ResponseCIViC CEID7248
RCSD1::ABL1 FusionTyrosine Kinase InhibitorSensitivity/ResponseCIViC CEID9169
RCSD1::ABL2 FusionImatinibSensitivity/ResponseCIViC CEID9772
SSBP2::JAK2 FusionRuxolitinibSensitivity/ResponseCIViC CEID7257
ZMIZ1::ABL1 FusionDasatinib + ChemotherapySensitivity/ResponseCIViC CEID11119
ZMIZ1::ABL1 FusionImatinib + ChemotherapySensitivity/ResponseCIViC CEID12615
JAK1 S646FRuxolitinibSensitivity/ResponseCIViC DEID7957
RCSD1::ABL1 FusionDasatinibSensitivity/ResponseCIViC DEID7249
RCSD1::ABL2 FusionDasatinibSensitivity/ResponseCIViC DEID7251
ZEB2::PDGFRB FusionDasatinib + ImatinibSensitivity/ResponseCIViC DEID12481

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterprointogenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureuniprot