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Atlas / Disease / B-cell acute lymphoblastic leukemia

B-cell acute lymphoblastic leukemia

disease
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Also known as B lymphoblastic leukemia/lymphomaprecursor B lymphoblastic leukemia/lymphomaprecursor B-lymphoblastic lymphoma/leukemia

Summary

B-cell acute lymphoblastic leukemia (MONDO:0004947) is a cancer (an umbrella term covering 16 Mondo subtypes) with 16 cohort genes (131 GWAS associations across 31 studies; 8 CIViC-evidence somatic drivers) and 112 clinical trials. Molecularly, BCR::ABL1 Fusion confers sensitivity to Dasatinib in B-lymphoblastic Leukemia/lymphoma (CIViC Level A); 61 further subtype–drug associations are mapped below. Top therapeutic interventions include blinatumomab, tisagenlecleucel, and inotuzumab ozogamicin.

At a glance

  • Classification: Cancer
  • Umbrella term: 16 Mondo subtypes
  • Cohort genes: 16
  • GWAS associations: 131
  • Clinical trials: 112
  • Precision-medicine evidence (CIViC): 62 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameB-cell acute lymphoblastic leukemia
Mondo IDMONDO:0004947
EFOEFO:0000094
DOIDDOID:0080630, DOID:7061
NCITC8936
SNOMED CT277571004
UMLSC1292769
MedGen226949
GARD0024135
Is cancer (heuristic)yes

Also known as: B lymphoblastic leukemia/lymphoma · precursor B lymphoblastic leukemia/lymphoma · precursor B-lymphoblastic lymphoma/leukemia

Data availability: 131 GWAS associations (31 studies).

Disease family

An umbrella term covering 16 Mondo subtypes.

Classification path: human disease › 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

Related subtypes (11): childhood acute lymphoblastic leukemia, prolymphocytic leukemia, adult acute lymphoblastic leukemia, null-cell leukemia, B-cell chronic lymphocytic leukemia, T-cell acute lymphoblastic leukemia, lymphoblastic leukemia, acute, with lymphomatous features, plasma cell leukemia, acute biphenotypic leukemia, precursor B-cell acute lymphoblastic leukemia, precursor T-cell acute lymphoblastic leukemia

Subtypes (16): 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, BCR-ABL1–like, 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

131 GWAS associations across 31 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs108219361e-106ARID5BC1.8
rs70894242e-73ARID5B?1.89
rs171338055e-71IKZF1 - RNU6-1091PG1.65
rs41326016e-55IKZF1?1.75
rs70904455e-54ARID5B?
rs1136505708e-35CDKN2AA2.32
rs119803793e-33IKZF1?
rs37312491e-27CDKN2A?2.65
rs22396302e-21CEBPEA1.28
rs22396331e-16CEBPE?
rs38246621e-16GATA3?
rs1832214171e-15GUSBP7 - RNU6-1119PC2.94
rs22966243e-15PIP4K2AC1.25
rs108219462e-14ARID5B?
rs171338073e-14IKZF1 - RNU6-1091PA1.62
rs37312177e-14CDKN2A?1.43
rs73857302e-13SPMIP7 - IKZF1?
rs274373e-13CSF2 - P4HA2-AS1?
rs624458693e-13IKZF1 - RNU6-1091PA1.67
rs117412554e-13IRF1, CARINH?
rs19934444e-13SPMIP7 - IKZF1?
rs127793016e-13LHPPC1.22
rs358377821e-11LHPPG1.21
rs1121137581e-11CNTN4T2.09
rs175529042e-11SPMIP7 - IKZF1?
rs37810922e-11GATA3?
rs131376796e-11RNA5SP166 - ATP5MGP4?
rs46480509e-11NFKB1?
rs69446501e-10IKZF1 - RNU6-1091P?
rs115551341e-10GRB10?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90428833Yu X202447,42985,040Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428826Yu X202430,155396,652Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428822Yu X202426,582317,337Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428829Yu X202425,04251,581Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428832Yu X202422,35091,489Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428825Yu X202415,654396,652Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428823Yu X202413,962317,337Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428831Yu X202412,36650,275Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428830Yu X202412,19444,738Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90428834Yu X20249,09534,250Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding2
Tier 2: splice/UTR4
Tier 3: regulatory4
Tier 4: intronic/intergenic40

MAF distribution

BucketVariants
common (>=0.05)48
low_freq (0.01-0.05)1
rare (<0.01)0
unknown1

Functional consequences

ConsequenceCount
intron_variant31
intergenic_variant8
regulatory_region_variant4
3_prime_UTR_variant4
missense_variant2
non_coding_transcript_exon_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs108219361061963818C>A,T0.33intron_variantARID5B1e-106Tier 4: intronic/intergenic
rs70894241061992400T>G0.05intron_variantARID5B2e-73Tier 4: intronic/intergenic
rs17133805750409816T>A,C,G0.32regulatory_region_variantIKZF1 - RNU6-1091P5e-71Tier 3: regulatory
rs4132601750402906T>G0.053_prime_UTR_variantIKZF16e-55Tier 2: splice/UTR
rs70904451061961417C>G,T0.05intron_variantARID5B5e-54Tier 4: intronic/intergenic
rs113650570921976403G>A,T0.02intron_variantCDKN2A8e-35Tier 4: intronic/intergenic
rs11980379750402283T>C0.053_prime_UTR_variantIKZF13e-33Tier 2: splice/UTR
rs3731249921970917C>A,G,T0.05missense_variantCDKN2A1e-27Tier 1: coding
rs22396301423120140A>C,G0.45intron_variantCEBPE2e-21Tier 4: intronic/intergenic
rs22396331423119848G>A,C,T0.05intron_variantCEBPE1e-16Tier 4: intronic/intergenic
rs3824662108062245C>A,G,T0.05intron_variantGATA31e-16Tier 4: intronic/intergenic
rs1832214175100102043T>C0.05intron_variantGUSBP7 - RNU6-1119P1e-15Tier 4: intronic/intergenic
rs22966241022568017C>A,T0.33intron_variantPIP4K2A3e-15Tier 4: intronic/intergenic
rs108219461062042815C>T0.05intron_variantARID5B2e-14Tier 4: intronic/intergenic
rs17133807750409989G>A0.05regulatory_region_variantIKZF1 - RNU6-1091P3e-14Tier 3: regulatory
rs3731217921984662A>C,G,T0.05intron_variantCDKN2A7e-14Tier 4: intronic/intergenic
rs7385730750279342G>A,T0.05intergenic_variantSPMIP7 - IKZF12e-13Tier 4: intronic/intergenic
rs274375132101268A>G,T0.05regulatory_region_variantCSF2 - P4HA2-AS13e-13Tier 3: regulatory
rs62445869750409913G>A,C0.05regulatory_region_variantIKZF1 - RNU6-1091P3e-13Tier 3: regulatory
rs117412555132475490G>A0.05intron_variantIRF1, CARINH4e-13Tier 4: intronic/intergenic
rs1993444750298903G>A,T0.05intergenic_variantSPMIP7 - IKZF14e-13Tier 4: intronic/intergenic
rs1277930110124604086T>A,C0.34intron_variantLHPP6e-13Tier 4: intronic/intergenic
rs3583778210124604740A>C,G,T0.38intron_variantLHPP1e-11Tier 4: intronic/intergenic
rs11211375832292232G>A,T0.05intron_variantCNTN41e-11Tier 4: intronic/intergenic
rs17552904750278712G>C,T0.05intergenic_variantSPMIP7 - IKZF12e-11Tier 4: intronic/intergenic
rs3781092108064390G>A,T0.05intron_variantGATA32e-11Tier 4: intronic/intergenic
rs131376794148698223A>G0.05intron_variantRNA5SP166 - ATP5MGP46e-11Tier 4: intronic/intergenic
rs46480504102593584T>A,C,G0.05intron_variantNFKB19e-11Tier 4: intronic/intergenic
rs6944650750433419T>C0.05intergenic_variantIKZF1 - RNU6-1091P1e-10Tier 4: intronic/intergenic
rs11555134750591496C>A,G,T0.053_prime_UTR_variantGRB101e-10Tier 2: splice/UTR

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 53 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 4

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

GeneHGNCEvidence routes
IKZF1IKZF1GWAS, Orphanet
CDKN2ACDKN2AGWAS, Orphanet
GATA3GATA3GWAS, Orphanet
PIP4K2APIP4K2AGWAS, Orphanet

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
IKZF1ActAML,ANSC,SKCMCIViC #73
TP53LoFACC,ALL,AML,ANGS,ANSC,BCC,BL,BLADDER,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,CLLSLL,COAD,COADREAD,CSCC,DLBCLNOS,EGC,ES,ESCA,ESCC,GB,GBC,GBM,GIST,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LMS,LNM,LUAD,LUSC,MBL,MEL,MLYM,MT,NBL,NETNOS,NHL,NPC,NSCLC,OS,OVT,PAAD,PANCREAS,PAST,PCM,PLMESO,PRAD,PRCC,PROSTATE,RCC,READ,SACA,SARCNOS,SCLC,SIC,SKCM,SKIN,SOFT_TISSUE,STAD,STOMACH,THYM,UCEC,UCS,UTUC,VULVA,WDTC,WTCIViC #45
ABL1LoFUCECCIViC #4
NT5C2CIViC #9189
PRPS1CIViC #4566
CDKN2ALoFACYC,BLCA,BRCA,CHOL,COAD,COADREAD,CSCC,EGC,ESCA,ESCC,GBM,HCC,HNSC,LGGNOS,LUAD,LUSC,MEL,MLYM,NPC,NSCLC,OS,PAAD,PANCREAS,RCC,SKCM,SKIN,STAD,STOMACH,WDTCCIViC #14
ERGActANGSCIViC #71
GATA3ActALL,BRCACIViC #2189

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
IKZF1Orphanet:317473Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
IKZF1Orphanet:36426Stevens-Johnson syndrome
IKZF1Orphanet:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
IKZF1Orphanet:695172Combined immunodeficiency due to dimerization defective IKAROS mutation
IKZF1Orphanet:697414Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
TP53Orphanet:1333Familial pancreatic carcinoma
TP53Orphanet:145Hereditary breast and/or ovarian cancer syndrome
TP53Orphanet:1501Adrenocortical carcinoma
TP53Orphanet:210159Adult hepatocellular carcinoma
TP53Orphanet:251576Gliosarcoma
TP53Orphanet:251579Giant cell glioblastoma
TP53Orphanet:251899Choroid plexus carcinoma
TP53Orphanet:2807Papilloma of choroid plexus
TP53Orphanet:293199Pleomorphic rhabdomyosarcoma
TP53Orphanet:3318Essential thrombocythemia
TP53Orphanet:524Li-Fraumeni syndrome
TP53Orphanet:52688Myelodysplastic syndrome
TP53Orphanet:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
TP53Orphanet:667662Breast implant-associated anaplastic large cell lymphoma
TP53Orphanet:668Osteosarcoma
TP53Orphanet:67038B-cell chronic lymphocytic leukemia
TP53Orphanet:70573Small cell lung cancer
TP53Orphanet:96253Cushing disease
TP53Orphanet:99756Alveolar rhabdomyosarcoma
TP53Orphanet:99757Embryonal rhabdomyosarcoma
ABL1Orphanet:521Chronic myeloid leukemia
ABL1Orphanet:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ABL1Orphanet:643503Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
ABL1Orphanet:99861Precursor T-cell acute lymphoblastic leukemia
NT5C2Orphanet:320396Autosomal recessive spastic paraplegia type 45
PRPS1Orphanet:1187Lethal ataxia with deafness and optic atrophy
PRPS1Orphanet:411536Mild phosphoribosylpyrophosphate synthetase superactivity
PRPS1Orphanet:411543Severe phosphoribosylpyrophosphate synthetase superactivity
PRPS1Orphanet:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
PRPS1Orphanet:90625Rare X-linked non-syndromic sensorineural deafness type DFN
PRPS1Orphanet:99014X-linked Charcot-Marie-Tooth disease type 5
SLC24A4Orphanet:100032Hypocalcified amelogenesis imperfecta
SLC24A4Orphanet:100033Hypomaturation amelogenesis imperfecta
CDKN2AOrphanet:1333Familial pancreatic carcinoma
CDKN2AOrphanet:1501Adrenocortical carcinoma
CDKN2AOrphanet:252206Melanoma and neural system tumor syndrome
CDKN2AOrphanet:404560Familial atypical multiple mole melanoma syndrome
CDKN2AOrphanet:524Li-Fraumeni syndrome
CDKN2AOrphanet:585909B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
CDKN2AOrphanet:618Familial melanoma
CDKN2AOrphanet:99861Precursor T-cell acute lymphoblastic leukemia
CEBPEOrphanet:169142Recurrent infections due to specific granule deficiency
CEBPEOrphanet:566067CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
ERGOrphanet:319Skeletal Ewing sarcoma
ERGOrphanet:370334Extraskeletal Ewing sarcoma

Cohort genes → proteins

16 cohort genes, 15 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only11
civic_only4
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
IKZF1HGNC:13176ENSG00000185811Q13422DNA-binding protein Ikarosgwas,civic_evidence
TP53HGNC:11998ENSG00000141510P04637Cellular tumor antigen p53civic_evidence
ABL1HGNC:76ENSG00000097007P00519Tyrosine-protein kinase ABL1civic_evidence
NT5C2HGNC:8022ENSG00000076685P49902Cytosolic purine 5’-nucleotidasecivic_evidence
PRPS1HGNC:9462ENSG00000147224P60891Ribose-phosphate pyrophosphokinase 1civic_evidence
SLC24A4HGNC:10978ENSG00000140090Q8NFF2Sodium/potassium/calcium exchanger 4gwas
ARID5BHGNC:17362ENSG00000150347Q14865AT-rich interactive domain-containing protein 5Bgwas
CDKN2AHGNC:1787ENSG00000147889P42771Cyclin-dependent kinase inhibitor 2Agwas
CEBPEHGNC:1836ENSG00000092067Q15744CCAAT/enhancer-binding protein epsilongwas
CPSF2HGNC:2325ENSG00000165934Q9P2I0Cleavage and polyadenylation specificity factor subunit 2gwas
LHPPHGNC:30042ENSG00000107902Q9H008Phospholysine phosphohistidine inorganic pyrophosphate phosphatasegwas
ELK3HGNC:3325ENSG00000111145P41970ETS domain-containing protein Elk-3gwas
ERGHGNC:3446ENSG00000157554P11308Transcriptional regulator ERGgwas
GATA3HGNC:4172ENSG00000107485P23771Trans-acting T-cell-specific transcription factor GATA-3gwas
LINC00977HGNC:48902long intergenic non-protein coding RNA 977gwas
PIP4K2AHGNC:8997ENSG00000150867P48426Phosphatidylinositol 5-phosphate 4-kinase type-2 alphagwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
IKZF1DNA-binding protein IkarosTranscription regulator of hematopoietic cell differentiation.
TP53Cellular tumor antigen p53Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
ABL1Tyrosine-protein kinase ABL1Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autopha…
NT5C2Cytosolic purine 5’-nucleotidaseBroad specificity cytosolic 5’-nucleotidase that catalyzes the dephosphorylation of 6-hydroxypurine nucleoside 5’-monophosphates.
PRPS1Ribose-phosphate pyrophosphokinase 1Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
SLC24A4Sodium/potassium/calcium exchanger 4Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+).
ARID5BAT-rich interactive domain-containing protein 5BTranscription coactivator that binds to the 5’-AATA[CT]-3’ core sequence and plays a key role in adipogenesis and liver development.
CDKN2ACyclin-dependent kinase inhibitor 2AActs as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6.
CEBPECCAAT/enhancer-binding protein epsilonTranscriptional activator.
CPSF2Cleavage and polyadenylation specificity factor subunit 2Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3’-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring ab…
LHPPPhospholysine phosphohistidine inorganic pyrophosphate phosphatasePhosphatase that hydrolyzes imidodiphosphate, 3-phosphohistidine and 6-phospholysine.
ELK3ETS domain-containing protein Elk-3May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos.
ERGTranscriptional regulator ERGTranscriptional regulator.
GATA3Trans-acting T-cell-specific transcription factor GATA-3Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes.
PIP4K2APhosphatidylinositol 5-phosphate 4-kinase type-2 alphaCatalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).

Protein-family classification

Druggable: 5 · Difficult: 4 · Unknown: 7 · Druggable fraction: 0.31

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
Kinase35.2×0.092
Transcription factor31.6×0.651
Enzyme (other)21.5×0.651
Scaffold/PPI11.1×0.768
Other/Unknown70.8×0.889

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
IKZF1Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
TP53Transcription factornop53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
ABL1Kinaseyes2.7.10.2Prot_kinase_dom, SH2, Ser-Thr/Tyr_kinase_cat_dom
NT5C2Enzyme (other)yes3.1.3.5HAD-SF_hydro_IG_5-nucl, Pur_nucleotidase, HAD_sf
PRPS1Kinaseyes2.7.6.1PRTase_dom, PRib_PP_synth_CS, Rib-P_diPkinase
SLC24A4Other/UnknownnoK/Na/Ca-exchanger, NaCa_Exmemb, NCX_ion-bd_dom_sf
ARID5BOther/UnknownnoARID_dom, ARID5B_ARID/BRIGHT_DNA-bd, ARID_dom_sf
CDKN2AScaffold/PPInoAnkyrin_rpt-contain_sf, Ank_Repeat/CDKN_Inhibitor, Tumor_suppres_ARF
CEBPEOther/UnknownnobZIP, C/EBP_chordates, C/EBP
CPSF2Other/UnknownnoMetallo-B-lactamas, RMMBL, Beta_Casp
LHPPEnzyme (other)yes3.9.1.3LHPP/HDHD2, HAD-SF_hydro_IIA, HAD_sf
ELK3Other/UnknownnoEts_dom, WH-like_DNA-bd_sf, WH_DNA-bd_sf
ERGOther/UnknownnoEts_dom, Pointed_dom, SAM/pointed_sf
GATA3Transcription factornoZnf_GATA, Znf_NHR/GATA, TF_GATA-2/3
LINC00977Other/Unknownno
PIP4K2AKinaseyes2.7.1.149PInositol-4-P-4/5-kinase_core, PInositol-4/5-P-5/4-kinase, PInositol-4-P-4/5-kinase_C_sf

Expression context

Cohort genes with no expression data: 1.

15 cohort genes 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)15
unknown1

Top tissues across cohort

TissueCohort genes
tendon of biceps brachii3
leukocyte2
monocyte2
ventricular zone2
buccal mucosa cell2
parotid gland2
mononuclear cell1
ganglionic eminence1
frontal pole1
middle frontal gyrus1
paraflocculus1
oral cavity1
islet of Langerhans1
sural nerve1
primary visual cortex1
pericardium1
saphenous vein1
type B pancreatic cell1
cervix squamous epithelium1
pituitary gland1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
IKZF1225broadmarkerleukocyte, monocyte, mononuclear cell
TP53223ubiquitousmarkerventricular zone, ganglionic eminence, tendon of biceps brachii
ABL1283ubiquitousmarkerfrontal pole, paraflocculus, middle frontal gyrus
NT5C2294ubiquitousmarkerparotid gland, buccal mucosa cell, oral cavity
PRPS1291ubiquitousmarkerislet of Langerhans, ventricular zone, sural nerve
SLC24A4168broadmarkermonocyte, leukocyte, primary visual cortex
ARID5B299ubiquitousmarkertype B pancreatic cell, saphenous vein, pericardium
CDKN2A220ubiquitousmarkerparotid gland, cervix squamous epithelium, pituitary gland
CEBPE99tissue_specificmarkerbone marrow, bone element, trabecular bone tissue
CPSF2259ubiquitousmarkerbuccal mucosa cell, tendon of biceps brachii, colonic epithelium
LHPP214ubiquitousmarkerC1 segment of cervical spinal cord, olfactory bulb, spinal cord
ELK3286ubiquitousmarkerbronchial epithelial cell, synovial joint, amniotic fluid
ERG247broadmarkertendon of biceps brachii, descending thoracic aorta, thoracic aorta
GATA3220broadmarkerupper leg skin, skin of hip, endometrium epithelium
LINC00977
PIP4K2A284ubiquitousmarkerinferior olivary complex, medial globus pallidus, globus pallidus

Protein interactions among cohort

Intra-cohort edges: 9.

Hub genes (top 10 by interactor count)

SymbolInteractor count
TP5322,736
CDKN2A9,311
ABL16,937
GATA35,990
IKZF14,096
CPSF22,988
PIP4K2A2,217
ARID5B1,778
NT5C21,513
CEBPE1,496

Intra-cohort edges

ABSources
ABL1IKZF1string_interaction
ABL1TP53string_interaction
ARID5BCEBPEstring_interaction
ARID5BIKZF1string_interaction
ARID5BPIP4K2Astring_interaction
CDKN2ATP53string_interaction
CEBPEIKZF1string_interaction
CEBPEPIP4K2Astring_interaction
LHPPPIP4K2Astring_interaction

Structural data

PDB: 13 · AlphaFold-only: 2 · No structure: 1

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
TP53P04637313
ABL1P0051985
NT5C2P4990243
PRPS1P6089127
PIP4K2AP4842618
IKZF1Q1342210
ERGP113088
CPSF2Q9P2I06
CDKN2AP427715
GATA3P237713
ARID5BQ148652
CEBPEQ157441
LHPPQ9H0081

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
SLC24A4Q8NFF270.84
ELK3P4197060.79

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 174. Enrichment computed across 16 evidence-associated genes (13 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 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
PI5P Regulates TP53 Acetylation2195.2×0.007TP53, PIP4K2A
Stabilization of p532117.1×0.011TP53, CDKN2A
SUMOylation of transcription factors287.8×0.013TP53, CDKN2A
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)1878.5×0.017SLC24A4
Evasion of Oncogene Induced Senescence Due to p14ARF Defects1878.5×0.017CDKN2A
Evasion of Oxidative Stress Induced Senescence Due to p14ARF Defects1878.5×0.017CDKN2A
Loss of function of TP53 in cancer due to loss of tetramerization ability1878.5×0.017TP53
G1 Phase260.6×0.017CDKN2A, ABL1
Oncogene Induced Senescence251.7×0.017TP53, CDKN2A
Regulation of TP53 Degradation245.0×0.017TP53, CDKN2A
Transcriptional Regulation by VENTX240.9×0.017TP53, CDKN2A
Factors involved in megakaryocyte development and platelet production315.3×0.017TP53, GATA3, ABL1
Cyclin D associated events in G1235.9×0.018CDKN2A, ABL1
Regulation of TP53 Expression1439.2×0.022TP53
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK41439.2×0.022CDKN2A
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK41439.2×0.022CDKN2A
Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function1439.2×0.022CDKN2A
Mitotic G1 phase and G1/S transition228.3×0.022CDKN2A, ABL1
Pyrophosphate hydrolysis1292.8×0.022LHPP
5-Phosphoribose 1-diphosphate biosynthesis1292.8×0.022PRPS1
Diseases of Cellular Senescence1292.8×0.022CDKN2A
Evasion of Oncogene Induced Senescence Due to p16INK4A Defects1292.8×0.022CDKN2A
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK61292.8×0.022CDKN2A
Evasion of Oxidative Stress Induced Senescence Due to p16INK4A Defects1292.8×0.022CDKN2A
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK61292.8×0.022CDKN2A
Diseases of cellular response to stress1292.8×0.022CDKN2A
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks222.5×0.022TP53, ABL1
Abacavir metabolism1219.6×0.026NT5C2
Transcriptional activation of cell cycle inhibitor p211219.6×0.026TP53
Synthesis of PIPs in the nucleus1219.6×0.026PIP4K2A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 15 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
negative regulation of mammary gland epithelial cell proliferation2449.4×0.002CDKN2A, GATA3
mitochondrial depolarization2321.0×0.002CDKN2A, ABL1
cellular senescence359.1×0.002TP53, CDKN2A, ABL1
positive regulation of transcription by RNA polymerase II76.9×0.003TP53, CDKN2A, CEBPE, ELK3, ERG, GATA3, ABL1
post-embryonic development341.1×0.004ARID5B, GATA3, ABL1
negative regulation of DNA-templated transcription510.5×0.005IKZF1, TP53, ARID5B, CDKN2A, GATA3
rRNA transcription2132.2×0.005TP53, CDKN2A
replicative senescence2132.2×0.005TP53, CDKN2A
response to gamma radiation277.5×0.014TP53, GATA3
type IV hypersensitivity11123.5×0.015GATA3
obsolete GMP catabolic process to guanine11123.5×0.015NT5C2
hypoxanthine biosynthetic process11123.5×0.015PRPS1
negative regulation of helicase activity11123.5×0.015TP53
cellular response to actinomycin D11123.5×0.015TP53
regulation of intrinsic apoptotic signaling pathway by p53 class mediator11123.5×0.015TP53
negative regulation of G1 to G0 transition11123.5×0.015TP53
protein localization to cytoplasmic microtubule plus-end11123.5×0.015ABL1
obsolete negative regulation of cell proliferation involved in mesonephros development11123.5×0.015GATA3
regulation of cellular response to X-ray11123.5×0.015GATA3
obsolete negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation11123.5×0.015GATA3
obsolete negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation11123.5×0.015GATA3
transitional one stage B cell differentiation1561.7×0.015ABL1
pro-T cell differentiation1561.7×0.015GATA3
pyrimidine nucleotide biosynthetic process1561.7×0.015PRPS1
nuclear body organization1561.7×0.015CDKN2A
phospholipase C-inhibiting G protein-coupled receptor signaling pathway1561.7×0.015ABL1
urate biosynthetic process1561.7×0.015PRPS1
positive regulation of mitochondrial membrane permeability1561.7×0.015TP53
parathyroid hormone secretion1561.7×0.015GATA3
cone photoresponse recovery1561.7×0.015SLC24A4

Therapeutics

Drugs indicated for this disease

6 approved, 8 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
Asparaginase Erwinia ChrysanthemiApproved (phase 4)
CrisantaspaseApproved (phase 4)
Inotuzumab OzogamicinApproved (phase 4)
MethotrexateApproved (phase 4)
Obecabtagene AutoleucelApproved (phase 4)
TisagenlecleucelApproved (phase 4)
CytarabinePhase 3 (in late-stage trials)
DexamethasonePhase 3 (in late-stage trials)
DoxorubicinPhase 3 (in late-stage trials)
EtoposidePhase 3 (in late-stage trials)
FilgrastimPhase 3 (in late-stage trials)
HydrocortisonePhase 3 (in late-stage trials)
PegaspargasePhase 3 (in late-stage trials)
PrednisonePhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Alemtuzumab, Asparaginase, Blinatumomab, Bortezomib, Epratuzumab, Etoposide Phosphate, Rituximab, Venetoclax, Vincristine.

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 4 · Phased (≥1): 4 · Undrugged: 12

Druggability breadth: 12 of 16 evidence-associated genes (75%) 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.

SymbolExample approved molecule
IKZF1POMALIDOMIDE
TP53NITROFURANTOIN
ABL1PONATINIB
PIP4K2APALBOCICLIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
TP531964
ABL11224
IKZF134
PIP4K2A34
NT5C200
PRPS100
SLC24A400
ARID5B00
CDKN2A00
CEBPE00

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
POMALIDOMIDE4IKZF1
LENALIDOMIDE4IKZF1
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4TP53
CLOTRIMAZOLE4TP53
COLCHICINE4TP53
NABUMETONE4TP53
SALMETEROL XINAFOATE4TP53
AMIODARONE HYDROCHLORIDE4TP53
FURAZOLIDONE4TP53
AMOXAPINE4TP53
RALOXIFENE HYDROCHLORIDE4TP53
NICARDIPINE HYDROCHLORIDE4TP53
SULCONAZOLE NITRATE4TP53
PYRITHIONE ZINC4TP53
LACTIC ACID4TP53
OXYMETHOLONE4TP53
CHLOROXINE4TP53
PROPIOLACTONE4TP53
CLOMIPRAMINE HYDROCHLORIDE4TP53
PHENYL AMINOSALICYLATE4TP53
THIORIDAZINE HYDROCHLORIDE4TP53
AMITRIPTYLINE HYDROCHLORIDE4TP53
ETHOPROPAZINE HYDROCHLORIDE4TP53
MECHLORETHAMINE HYDROCHLORIDE4TP53
ECONAZOLE NITRATE4TP53
TRIFLUPROMAZINE HYDROCHLORIDE4TP53

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

SymbolAssaysType breakdown
ABL13,282Binding:3254, ADMET:16, Functional:10, Toxicity:2
TP53869Binding:775, ADMET:83, Functional:10, Toxicity:1
PIP4K2A136Binding:134, Functional:2
IKZF1106Binding:105, Functional:1
ERG14Binding:10, Functional:3, ADMET:1
PRPS110Binding:10
NT5C27Binding:7
CPSF26Binding:6
CDKN2A2Binding:2
ELK32Binding:2
SLC24A41Functional:1
LHPP1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
ABL12.7.10.2non-specific protein-tyrosine kinase
NT5C23.1.3.55’-nucleotidase
PRPS12.7.6.1ribose-phosphate diphosphokinase
LHPP3.9.1.3phosphohistidine phosphatase
PIP4K2A2.7.1.1491-phosphatidylinositol-5-phosphate 4-kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
IKZF1106
TP53869
ABL13,282
PIP4K2A136

Pharmacogenomics

Cohort genes with a PharmGKB record: 15; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

30 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.

CompoundMax phaseCohort target (bioactivity)
POMALIDOMIDE4IKZF1
LENALIDOMIDE4IKZF1
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4TP53
CLOTRIMAZOLE4TP53
COLCHICINE4TP53
NABUMETONE4TP53
SALMETEROL XINAFOATE4TP53
AMIODARONE HYDROCHLORIDE4TP53
FURAZOLIDONE4TP53
AMOXAPINE4TP53
RALOXIFENE HYDROCHLORIDE4TP53
NICARDIPINE HYDROCHLORIDE4TP53
SULCONAZOLE NITRATE4TP53
PYRITHIONE ZINC4TP53
LACTIC ACID4TP53
OXYMETHOLONE4TP53
CHLOROXINE4TP53
PROPIOLACTONE4TP53
CLOMIPRAMINE HYDROCHLORIDE4TP53
PHENYL AMINOSALICYLATE4TP53
THIORIDAZINE HYDROCHLORIDE4TP53
AMITRIPTYLINE HYDROCHLORIDE4TP53
ETHOPROPAZINE HYDROCHLORIDE4TP53
MECHLORETHAMINE HYDROCHLORIDE4TP53
ECONAZOLE NITRATE4TP53
TRIFLUPROMAZINE HYDROCHLORIDE4TP53

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)4IKZF1, TP53, ABL1, PIP4K2A
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug3NT5C2, PRPS1, LHPP
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug9SLC24A4, ARID5B, CDKN2A, CEBPE, CPSF2, ELK3, ERG, GATA3, LINC00977

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
ARID5B0PIP4K2A
LHPP1PIP4K2A
NT5C27—
PRPS110—
SLC24A41—
CDKN2A2—
CEBPE0—
CPSF26—
ELK32—
ERG14—
GATA30—
LINC009770—

Clinical trials & evidence

Clinical trials

Clinical trials: 112.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE136
PHASE1/PHASE223
PHASE223
EARLY_PHASE115
Not specified10
PHASE2/PHASE33
PHASE32

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04094311PHASE3RECRUITINGStudy of Out of Specification for Tisagenlecleucel
NCT06764238PHASE2/PHASE3RECRUITINGNewly-diagnosed Intermediate/High Risk Pediatric B-cell ALL Protocol
NCT06882057PHASE2/PHASE3RECRUITINGNewly-diagnosed Low Risk Pediatric B-cell ALL Protocol
NCT07223021PHASE3RECRUITINGA Study of Fludarabine Dosing in Children and Young Adults With B-cell Acute Lymphoblastic Leukemia
NCT07570173PHASE2/PHASE3RECRUITINGA Clinical Trial of MK-1045 in People With B-cell Acute Lymphoblastic Leukemia (MK-1045-005)
NCT03509961PHASE2RECRUITINGThe EndRAD Trial: Eliminating Total Body Irradiation (TBI) for NGS-MRD Negative Children, Adolescents, and Young Adults With B-ALL
NCT03876769PHASE2ACTIVE_NOT_RECRUITINGStudy of Efficacy and Safety of Tisagenlecleucel in HR B-ALL EOC MRD Positive Patients
NCT04150497PHASE1/PHASE2RECRUITINGPhase 1/2 Study of UCART22 in Patients With Relapsed or Refractory CD22+ B-cell Acute Lymphoblastic Leukemia (BALLI-01)
NCT04544592PHASE1/PHASE2RECRUITINGUCD19 CarT in Treatment of Pediatric B-ALL and B-NHL
NCT04746209PHASE2RECRUITINGBlinatumomab After TCR Alpha Beta/CD19 Depleted HCT
NCT05082519PHASE2RECRUITINGCaloric Restriction and Activity to Reduce Chemoresistance in B-ALL
NCT05460533PHASE2ACTIVE_NOT_RECRUITINGA Second Infusion (Early Reinfusion) of Tisagenlecleucel in Children and Young Adults With B-Cell Acute Lymphoblastic Leukemia(B-ALL)
NCT05470777PHASE2ACTIVE_NOT_RECRUITINGCD22/CD19 CAR-T and Auto-HSCT Sandwich Strategy as Consolidation Therapy for B-ALL
NCT05480449PHASE1/PHASE2RECRUITINGAutologous HuCART19 T Cells Manufactured Using the CliniMACS Prodigy Platform for Pediatric B-ALL (huCART19 Prodigy)
NCT05648019PHASE2RECRUITINGCD19-Directed Chimeric Antigen Receptor (CAR) T-Cell Therapy for Relapsed/Refractory B-Lineage Leukaemia / Lymphoma - A Feasibility Protocol
NCT05667506PHASE1/PHASE2RECRUITINGA Study of CNCT19 Treatment in Children and Adolescent r/r ALL Patients(Pediatric)
NCT05674175PHASE1/PHASE2RECRUITINGCo-administration of CART22-65s and huCART19 for B-ALL
NCT06081478PHASE2RECRUITINGCD19/CD22 Bispecific CAR-T Cell Therapy for Relapsed/Refractory B-cell Lymphoma or Acute Lymphoblastic Leukemia
NCT06137118PHASE1/PHASE2RECRUITINGAZD0486 as Monotherapy in B-cell Acute Lymphoblastic Leukaemia
NCT06179524PHASE2RECRUITINGCAR-T-19 Injection in the Treatment of CD19-positive Relapsed/Refractory B-ALL
NCT06220097PHASE2ACTIVE_NOT_RECRUITINGMitoxantrone Hydrochloride Liposome Injection-containing Bridging Regimen and CD19-targeting CAR-T Therapies
NCT06393985PHASE2RECRUITINGDecitabine, Venetoclax and Blinatumomab for Maintenance Following HSCT in Patients With Ph-Negative B-ALL
NCT06395103PHASE1/PHASE2RECRUITINGSubstudy 01A: Zilovertamab Vedotin in Pediatric and Young Adult Participants With Hematologic Malignancies or Solid Tumors (MK-9999-01A/LIGHTBEAM-U01)
NCT06533579PHASE1/PHASE2RECRUITINGGene Therapy for CD19-Positive Hematologic Malignancies (SENTRY-CD19)
NCT06580301PHASE1/PHASE2RECRUITINGStudy of YK012 in B-cell Acute Lymphoblastic Leukemia
NCT06608732PHASE2RECRUITINGCombination of Inaticabtagene Autoleucel With Autologous Hematopoietic Stem Cell Transplantation for Adolescents or Adults With MRD-Positive B-Cell Acute Lymphoblastic Leukemia in Initial Complete Remission.
NCT07109219PHASE1/PHASE2RECRUITINGStudy of AZD4512 Monotherapy or in Combination With Anticancer Agents in Participants With Acute Lymphoblastic Leukemia
NCT07153796PHASE2ACTIVE_NOT_RECRUITINGA Phase 2 Study to Assess the Safety and Efficacy of Subcutaneous Blinatumomab in Combination With Low Intensity Chemotherapy in Older Patients With Newly Diagnosed B-cell Acute Lymphoblastic Leukemia
NCT07313852PHASE1/PHASE2NOT_YET_RECRUITINGA Study of Inotuzumab and Blinatumomab in People With B-cell Acute Lymphoblastic Leukemia
NCT07575919PHASE1/PHASE2RECRUITINGTargeted CD22/CD19 CAR-T Therapy for Consolidation in Standard-Risk B-ALL
NCT07575971PHASE1/PHASE2RECRUITINGExploratory Study of CD22/CD19 Dual-Target CAR-T Cell Therapy as Consolidation Treatment After First Remission in High-Risk B-Cell Acute Lymphoblastic Leukemia
NCT00289562PHASE1/PHASE2COMPLETEDForodesine Hydrochloride (BCX-1777) for B-Cell Acute Lymphoblastic Leukemia
NCT01207388PHASE2COMPLETEDConfirmatory Phase II Study of Blinatumomab (MT103) in Patients With Minimal Residual Disease of B-precursor Acute Lymphoblastic Leukemia (ALL)
NCT02167360PHASE2WITHDRAWNStudy of Efficacy and Safety of CTL019 in Adult ALL Patients
NCT02228096PHASE2COMPLETEDStudy of Efficacy and Safety of CTL019 in Pediatric ALL Patients
NCT02435849PHASE2COMPLETEDStudy of Efficacy and Safety of CTL019 in Pediatric ALL Patients
NCT03156101PHASE1/PHASE2UNKNOWNA Clinical Study Evaluating the Safety and Efficacy of BinD19 Treatment in R/R ALL and Lymphoma Subjects
NCT03289455PHASE1/PHASE2COMPLETEDCD19 /22 CAR T Cells (AUTO3) for the Treatment of B Cell Acute Lymphoblastic Leukemia (ALL)
NCT03467256PHASE1/PHASE2UNKNOWNCD19 T-CAR for Treatment of Children and Young Adults With r/r B-ALL
NCT03638206PHASE1/PHASE2UNKNOWNAutologous CAR-T/TCR-T Cell Immunotherapy for Malignancies

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BLINATUMOMAB412
TISAGENLECLEUCEL48
INOTUZUMAB OZOGAMICIN42
ASCIMINIB41
DIPHENHYDRAMINE41
ETOPOSIDE PHOSPHATE41
FORODESINE41
MOSUNETUZUMAB41
SILTUXIMAB41
CIRMTUZUMAB31
INATICABTAGENE AUTOLEUCEL21
SUROVATAMIG21
VEDOTIN21
VIBECOTAMAB21

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 62 predictive associations from 67 curated evidence items; also 33 prognostic, 13 oncogenic, 4 diagnostic.

Molecular subtypeTherapyEffectLevelCIViC
BCR::ABL1 FusionDasatinibSensitivity/ResponseCIViC AEID11235
BCR::ABL1 FusionBosutinibSensitivity/ResponseCIViC AEID11287
BCR::ABL1 FusionNilotinibSensitivity/ResponseCIViC AEID11288
BCR::ABL1 Fusion AND ABL1 T315IPonatinibSensitivity/ResponseCIViC AEID11236
IKZF1 DeletionMethotrexate + Daunorubicin + Cytarabine + Fludarabine + ImatinibSensitivity/ResponseCIViC BEID7366
ETV6::NTRK3 FusionLarotrectinibSensitivity/ResponseCIViC CEID7993 +2
RCSD1::ABL1 FusionDasatinibSensitivity/ResponseCIViC CEID9164 +2
ZC3HAV1::ABL2 FusionImatinibSensitivity/ResponseCIViC CEID12513 +1
ADAD2-AS1::ABL1 FusionImatinib + DasatinibSensitivity/ResponseCIViC CEID9159
BCR::PDGFRA FusionImatinibSensitivity/ResponseCIViC CEID7990
ETV6::ABL1 FusionDasatinibSensitivity/ResponseCIViC CEID6969
ETV6::ABL1 FusionImatinibSensitivity/ResponseCIViC CEID9171
ETV6::NTRK3 FusionEtoposide + Methotrexate + LarotrectinibSensitivity/ResponseCIViC CEID8917
FIP1L1::PDGFRA FusionChemotherapy + ImatinibSensitivity/ResponseCIViC CEID12566
NUP214::ABL1 FusionImatinib MesylateSensitivity/ResponseCIViC CEID12218
RCSD1::ABL1 FusionImatinibSensitivity/ResponseCIViC CEID7783
RCSD1::ABL1 FusionPonatinibSensitivity/ResponseCIViC CEID9213
RCSD1::ABL1 FusionDasatinibReduced SensitivityCIViC CEID9166
SNX2::ABL1 FusionImatinibReduced SensitivityCIViC CEID7254
SNX2::ABL1 FusionDasatinibResistanceCIViC CEID7241
BLK ExpressionIbrutinibSensitivity/ResponseCIViC DEID9288
BTK ExpressionIbrutinibSensitivity/ResponseCIViC DEID9287
CRLF2 F232CJAK Inhibitor ISensitivity/ResponseCIViC DEID7210
EZH2 A692VGSK126Sensitivity/ResponseCIViC DEID11707
MEF2D::CSF1R FusionPanobinostatSensitivity/ResponseCIViC DEID9359
NUP214::ABL1 FusionDasatinib + ImatinibSensitivity/ResponseCIViC DEID12385
NUP214::ABL1 FusionPonatinib + Dasatinib + Imatinib + NilotinibSensitivity/ResponseCIViC DEID9150
PRPS1 A190TMercaptopurine + LometrexolSensitivity/ResponseCIViC DEID7913
PRPS1 L191FCytarabineSensitivity/ResponseCIViC DEID7911
PRPS1 N144SCytarabineSensitivity/ResponseCIViC DEID7910

+32 more predictive associations (showing top 30 by evidence level).

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 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetciviccivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterprointogenmedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot