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Atlas / Disease / Urinary bladder carcinoma

Urinary bladder carcinoma

disease
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Also known as bladder cancerbladder carcinomacancer of bladdercancer of the bladdercancer of the urinary bladdercancer of urinary bladdercarcinoma bladdercarcinoma of bladdercarcinoma of the bladdercarcinoma of the urinary bladdercarcinoma of urinary bladderurinary bladder cancer

Summary

Urinary bladder carcinoma (MONDO:0004986) is a cancer (an umbrella term covering 9 Mondo subtypes) with 50 cohort genes (57 GWAS associations across 27 studies; 16 CIViC-evidence somatic drivers) and 1,314 clinical trials. The dominant Reactome pathway is TP53 Regulates Metabolic Genes (5 cohort genes). Molecularly, FGFR2::v Fusion confers sensitivity to Erdafitinib in Bladder Carcinoma (CIViC Level A); 33 further subtype–drug associations are mapped below. Top therapeutic interventions include mitomycin, sunitinib, and vinblastine.

At a glance

  • Classification: Cancer
  • Umbrella term: 9 Mondo subtypes
  • Cohort genes: 50
  • GWAS associations: 57
  • Clinical trials: 1,314
  • Precision-medicine evidence (CIViC): 34 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameurinary bladder carcinoma
Mondo IDMONDO:0004986
DOIDDOID:4007
NCITC4912
SNOMED CT255108000
UMLSC0699885
MedGen147071
Anatomy (UBERON)UBERON:0001255
Is cancer (heuristic)yes

Also known as: bladder cancer · bladder carcinoma · cancer of bladder · cancer of the bladder · cancer of the urinary bladder · cancer of urinary bladder · carcinoma bladder · carcinoma of bladder · carcinoma of the bladder · carcinoma of the urinary bladder · carcinoma of urinary bladder · urinary bladder cancer · urinary bladder carcinoma

Data availability: 57 GWAS associations (27 studies) · 1 HPO phenotype · 287 cell lines.

Disease family

An umbrella term covering 9 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › urinary system disorder › urinary bladder disorder › urinary bladder neoplasm › urinary bladder cancer › urinary bladder carcinoma

Related subtypes (8): bladder lateral wall cancer, bladder neck cancer, urinary bladder posterior wall cancer, bladder sarcoma, urinary bladder anterior wall cancer, urachus cancer, bladder dome cancer, bladder lymphoma

Subtypes (9): bladder adenocarcinoma, bladder squamous cell carcinoma, bladder urachal carcinoma, urinary bladder small cell neuroendocrine carcinoma, stage IVb bladder cancer, superficial urinary bladder carcinoma, bladder transitional cell carcinoma, childhood bladder carcinoma, bladder small cell carcinoma

Genetics & variants

GWAS landscape

57 GWAS associations across 27 studies. Top hits map to 24 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs96428804e-38CASC11T1.24
GSTM1 Del5e-31?1.47
rs7987667e-25TACC3T1.22
rs22040083e-15ZNF970P - AK6P2T1.13
rs10149718e-12CBX6 - APOBEC3A?1.18
rs117245318e-12TACC3 - FGFR3A1.28
rs81021371e-11C19orf12 - CCNE1C1.13
rs7105212e-11TP63 - P3H2A1.14
rs621856682e-11LINC01752 - LINC02871A1.19
rs100948723e-11CASC11T1.23
rs14957414e-11NAT2 - PSD3?1.15
rs22940084e-11JRK, PSCAT1.13
rs4016814e-11CLPTM1LC1.12
rs20423295e-11CWC27T1.4
rs176745808e-11SLC14A1T1.17
rs1809409443e-09NBEA?0.71
rs115431984e-09CLK3G1.41
rs109365995e-09MYNNC1.18
rs72380339e-09SLC14A1?1.2
rs760884672e-08CASC15G1.56
rs29202812e-08JRK, PSCAT1.19
rs9076114e-08LSP1A1.15
rs107754806e-08SLC14A1T1.13
rs107777537e-08CCDC38A1.18
rs118920311e-07UGT1A8, UGT1A10?1.19
rs562970452e-07APOBEC3AA1.23
rs1112497283e-07SYCN - IFNL3P1C2.68
rs27361033e-07TERT - MIR4457C1.21
rs353561624e-07BLTP3AT4.33
rs1118124455e-07LINC01173 - SH3BP4A1.82

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST002243Figueroa JD20136,91111,818Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GCST001193Garcia-Closas M20114,5016,076A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.
GCST000842Rothman N20103,5325,120A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
GCST002240Figueroa JD20132,3053,901Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GCST90041857Jiang L20212,264454,084A generalized linear mixed model association tool for biobank-scale data.
GCST90011817Rashkin SR20202,242410,350Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.
GCST001153Rafnar T20112,23441,603European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
GCST000639Kiemeney LA20101,88939,310A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
GCST000231Kiemeney LA20081,80334,336Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
GCST002460Rafnar T20141,67090,180Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding3
Tier 2: splice/UTR2
Tier 3: regulatory2
Tier 4: intronic/intergenic35

MAF distribution

BucketVariants
common (>=0.05)39
low_freq (0.01-0.05)2
rare (<0.01)1
unknown0

Functional consequences

ConsequenceCount
intron_variant23
intergenic_variant11
regulatory_region_variant2
5_prime_UTR_variant2
missense_variant2
unknown1
stop_gained1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs96428808127705823G>A,T0.45intron_variantCASC114e-38Tier 4: intronic/intergenic
GSTM1 Del0.495e-31Tier 4: intronic/intergenic
rs79876641732512T>C0.19intron_variantTACC37e-25Tier 4: intronic/intergenic
rs22040081238045401C>A,G,T0.46intergenic_variantZNF970P - AK6P23e-15Tier 4: intronic/intergenic
rs10149712238936618C>A,G,T0.38intergenic_variantCBX6 - APOBEC3A8e-12Tier 4: intronic/intergenic
rs1172453141751697A>G0.05regulatory_region_variantTACC3 - FGFR38e-12Tier 3: regulatory
rs81021371929805946T>C0.33regulatory_region_variantC19orf12 - CCNE11e-11Tier 3: regulatory
rs7105213189928144T>A,C,G0.27intergenic_variantTP63 - P3H22e-11Tier 4: intronic/intergenic
rs621856682010981287C>A,T0.236intron_variantLINC01752 - LINC028712e-11Tier 4: intronic/intergenic
rs100948728127707639A>T0.05intron_variantCASC113e-11Tier 4: intronic/intergenic
rs1495741818415371G>A0.2intergenic_variantNAT2 - PSD34e-11Tier 4: intronic/intergenic
rs22940088142680513C>T0.465_prime_UTR_variantJRK, PSCA4e-11Tier 2: splice/UTR
rs40168151321972C>T0.46intron_variantCLPTM1L4e-11Tier 4: intronic/intergenic
rs2042329564771925T>A,C,G0.098intron_variantCWC275e-11Tier 4: intronic/intergenic
rs176745801845729946C>A,T0.335_prime_UTR_variantSLC14A18e-11Tier 2: splice/UTR
rs1809409441335375956C>T0.05intron_variantNBEA3e-09Tier 4: intronic/intergenic
rs115431981574619987G>A,C,T0.22intron_variantCLK34e-09Tier 4: intronic/intergenic
rs109365993169774313C>G,T0.24missense_variantMYNN5e-09Tier 1: coding
rs72380331845737001T>C0.05intron_variantSLC14A19e-09Tier 4: intronic/intergenic
rs76088467621795556A>G0.025intron_variantCASC152e-08Tier 4: intronic/intergenic
rs29202818142679026C>G,T0.05intergenic_variantJRK, PSCA2e-08Tier 4: intronic/intergenic
rs907611111852842G>A0.31intron_variantLSP14e-08Tier 4: intronic/intergenic
rs107754801845737317T>A,C0.43intron_variantSLC14A16e-08Tier 4: intronic/intergenic
rs107777531295928824A>C,G,T0.398intron_variantCCDC387e-08Tier 4: intronic/intergenic
rs118920312233656637A>C,T0.08intron_variantUGT1A8, UGT1A101e-07Tier 4: intronic/intergenic
rs562970452238954679G>A0.05intergenic_variantAPOBEC3A2e-07Tier 4: intronic/intergenic
rs1112497281939230325G>A,C0.05intron_variantSYCN - IFNL3P13e-07Tier 4: intronic/intergenic
rs273610351300286T>C0.05intergenic_variantTERT - MIR44573e-07Tier 4: intronic/intergenic
rs35356162634834333G>T0.002missense_variantBLTP3A4e-07Tier 1: coding
rs1118124452234754157G>A0.018intergenic_variantLINC01173 - SH3BP45e-07Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 114 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 1

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

GeneHGNCEvidence routes
TP63TP63GWAS, Orphanet

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
FGFR3ActBLADDER,BLCA,HNSC,LUSC,PCM,PLMESO,UTUCCIViC #23
RNASE3ActBLCACIViC #4767
STAG2LoFAML,BLCA,CCRCC,ES,GBM,LUSC,MBL,PAST,PRCC,UCEC,WDTCCIViC #8553
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
TSC1LoFBLCA,BRCA,COADREAD,HCC,LUAD,RCC,SKCM,STAD,UTUCCIViC #46
ERBB2ActBLCA,BRCA,CESC,CHOL,COADREAD,EGC,ESCA,ESCC,LMS,LUAD,NSCLC,OVT,PRCC,READ,STAD,UCECCIViC #20
ERCC1CIViC #1735
FGFR1ActBLCA,GBM,OVT,PANCREAS,PAST,PGNG,WDTCCIViC #1885
MTORActBLCA,BRCA,CCRCC,CHRCC,CLLSLL,COADREAD,HCC,LGGNOS,PANET,RCC,UCECCIViC #2073
PTENLoFANGS,BLCA,BRCA,CCRCC,CEAD,CESC,CHOL,CHRCC,COADREAD,CSCC,ESCA,GB,GBM,HCC,HGGNOS,HNSC,LGGNOS,LIPO,LUAD,LUSC,MBL,MEL,MT,NSCLC,OVT,PANET,PAST,PRAD,PRCC,PROSTATE,RCC,SCLC,SKCM,SOFT_TISSUE,STAD,UCEC,UCS,WDTCCIViC #41
TERTActPRCCCIViC #79
UGT1ACIViC #6023
CCNE1CIViC #11
TP63LoFBLCA,CESC,HNSC,MEL,NBL
MYCActAML,BL,MLYM,NHLCIViC #3737
NBEALoFBRCA,CEAD,COAD,COADREAD,ESCA,HCC,LUAD,OVT,SCLC,SKCM,STAD

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
FGFR3Orphanet:15Achondroplasia
FGFR3Orphanet:1860Thanatophoric dysplasia type 1
FGFR3Orphanet:2363Lacrimoauriculodentodigital syndrome
FGFR3Orphanet:251576Gliosarcoma
FGFR3Orphanet:251579Giant cell glioblastoma
FGFR3Orphanet:35099Non-syndromic bicoronal craniosynostosis
FGFR3Orphanet:429Hypochondroplasia
FGFR3Orphanet:53271Muenke syndrome
FGFR3Orphanet:794Saethre-Chotzen syndrome
FGFR3Orphanet:85164Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3Orphanet:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
FGFR3Orphanet:93262Crouzon syndrome-acanthosis nigricans syndrome
FGFR3Orphanet:93274Thanatophoric dysplasia type 2
STAG2Orphanet:220386Semilobar holoprosencephaly
STAG2Orphanet:521258Xq25 microduplication syndrome
STAG2Orphanet:93925Alobar holoprosencephaly
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
TSC1Orphanet:210159Adult hepatocellular carcinoma
TSC1Orphanet:269008Isolated focal cortical dysplasia type IIb
TSC1Orphanet:538Lymphangioleiomyomatosis
TSC1Orphanet:805Tuberous sclerosis complex
ERBB2Orphanet:213726Serous carcinoma of the corpus uteri
ERBB2Orphanet:2800Extramammary Paget disease
ERBB2Orphanet:388Hirschsprung disease
ERBB2Orphanet:99976Adenocarcinoma of the oesophagus and oesophagogastric junction
ERCC1Orphanet:1466COFS syndrome
ERCC1Orphanet:90322Cockayne syndrome type 2
FGFR1Orphanet:168953Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
FGFR1Orphanet:2117Hartsfield syndrome
FGFR1Orphanet:220386Semilobar holoprosencephaly
FGFR1Orphanet:2396Encephalocraniocutaneous lipomatosis

Cohort genes → proteins

50 cohort genes, 46 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only40
civic_only9
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
FGFR3HGNC:3690ENSG00000068078P22607Fibroblast growth factor receptor 3gwas,civic_evidence
RNASE3HGNC:10046ENSG00000169397P12724Eosinophil cationic proteincivic_evidence
STAG2HGNC:11355ENSG00000101972Q8N3U4Cohesin subunit SA-2civic_evidence
TP53HGNC:11998ENSG00000141510P04637Cellular tumor antigen p53civic_evidence
TSC1HGNC:12362ENSG00000165699Q92574Hamartincivic_evidence
ERBB2HGNC:3430ENSG00000141736P04626Receptor tyrosine-protein kinase erbB-2civic_evidence
ERCC1HGNC:3433ENSG00000012061P07992DNA excision repair protein ERCC-1civic_evidence
FGFR1HGNC:3688ENSG00000077782P11362Fibroblast growth factor receptor 1civic_evidence
MTORHGNC:3942ENSG00000198793P42345Serine/threonine-protein kinase mTORcivic_evidence
PTENHGNC:9588ENSG00000171862P60484Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENcivic_evidence
CWC27HGNC:10664ENSG00000153015Q6UX04Spliceosome-associated protein CWC27 homologgwas
SLBPHGNC:10904ENSG00000163950Q14493Histone RNA hairpin-binding proteingwas
SLC14A1HGNC:10918ENSG00000141469Q13336Urea transporter 1gwas
SLC14A2HGNC:10919ENSG00000132874Q15849Urea transporter 2gwas
TACC3HGNC:11524ENSG00000013810Q9Y6A5Transforming acidic coiled-coil-containing protein 3gwas
TERCHGNC:11727ENSG00000270141telomerase RNA componentgwas
TERTHGNC:11730ENSG00000164362O14746Telomerase reverse transcriptasegwas
UGT1AHGNC:12529UDP glucuronosyltransferase family 1 member A complex locusgwas
EZRHGNC:12691ENSG00000092820P15311Ezringwas
SLC38A1HGNC:13447ENSG00000111371Q9H2H9Sodium-coupled neutral amino acid symporter 1gwas
MYNNHGNC:14955ENSG00000085274Q9NPC7Myoneuringwas
CBX6HGNC:1556ENSG00000183741O95503Chromobox protein homolog 6gwas
TAGAPHGNC:15669ENSG00000164691Q8N103T-cell activation Rho GTPase-activating proteingwas
CCNE1HGNC:1589ENSG00000105173P24864G1/S-specific cyclin-E1gwas
TP63HGNC:15979ENSG00000073282Q9H3D4Tumor protein 63gwas
LINC02871HGNC:16180ENSG00000125899long intergenic non-protein coding RNA 2871gwas
APOBEC3AHGNC:17343ENSG00000128383P31941DNA dC->dU-editing enzyme APOBEC-3Agwas
CLK3HGNC:2071ENSG00000179335P49761Dual specificity protein kinase CLK3gwas
CDKAL1HGNC:21050ENSG00000145996Q5VV42Threonylcarbamoyladenosine tRNA methylthiotransferasegwas
RSPH3HGNC:21054ENSG00000130363Q86UC2Radial spoke head protein 3 homologgwas
BLTP3AHGNC:21216ENSG00000065060Q6BDS2Bridge-like lipid transfer protein family member 3Agwas
ACTRT3HGNC:24022ENSG00000184378Q9BYD9Actin-related protein T3gwas
CLPTM1LHGNC:24308ENSG00000049656Q96KA5Lipid scramblase CLPTM1Lgwas
TMEM129HGNC:25137ENSG00000168936A0AVI4E3 ubiquitin-protein ligase TM129gwas
CYP1A2HGNC:2596ENSG00000140505P05177Cytochrome P450 1A2gwas
LRRC34HGNC:28408ENSG00000171757Q8IZ02Leucine-rich repeat-containing protein 34gwas
FMN1HGNC:3768ENSG00000248905Q68DA7Formin-1gwas
FOXF2HGNC:3810ENSG00000137273Q12947Forkhead box protein F2gwas
GSTM1HGNC:4632ENSG00000134184P09488Glutathione S-transferase Mu 1gwas
HTR5AHGNC:5300ENSG00000157219P478985-hydroxytryptamine receptor 5Agwas
INSIG1HGNC:6083ENSG00000186480O15503Insulin-induced gene 1 proteingwas
JAG1HGNC:6188ENSG00000101384P78504Protein jagged-1gwas
LSP1HGNC:6707ENSG00000130592P33241Lymphocyte-specific protein 1gwas
MYCHGNC:7553ENSG00000136997P01106Myc proto-oncogene proteingwas
NBEAHGNC:7648ENSG00000172915Q8NFP9Neurobeachingwas
PAXIP1HGNC:8624ENSG00000157212Q6ZW49PAX-interacting protein 1gwas
POU5F1BHGNC:9223ENSG00000212993Q06416POU domain, class 5, transcription factor 1Bgwas
PRKAR2BHGNC:9392ENSG00000005249P31323cAMP-dependent protein kinase type II-beta regulatory subunitgwas
PSCAHGNC:9500ENSG00000167653O43653Prostate stem cell antigengwas
PVT1HGNC:9709ENSG00000249859Pvt1 oncogenegwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
FGFR3Fibroblast growth factor receptor 3Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis.
RNASE3Eosinophil cationic proteinCytotoxin and helminthotoxin with low-efficiency ribonuclease activity.
STAG2Cohesin subunit SA-2Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication.
TP53Cellular tumor antigen p53Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
TSC1HamartinNon-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolec…
ERBB2Receptor tyrosine-protein kinase erbB-2Protein tyrosine kinase that is part of several cell surface receptor complexes, but that apparently needs a coreceptor for ligand binding.
ERCC1DNA excision repair protein ERCC-1Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5’-incision during DNA repair.
FGFR1Fibroblast growth factor receptor 1Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration.
MTORSerine/threonine-protein kinase mTORSerine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals.
PTENPhosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENDual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins.
CWC27Spliceosome-associated protein CWC27 homologAs part of the spliceosome, plays a role in pre-mRNA splicing.
SLBPHistone RNA hairpin-binding proteinRNA-binding protein involved in the histone pre-mRNA processing.
SLC14A1Urea transporter 1Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes.
SLC14A2Urea transporter 2Mediates the transport of urea driven by a concentration gradient across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism.
TACC3Transforming acidic coiled-coil-containing protein 3Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome.
TERTTelomerase reverse transcriptaseTelomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes.
EZREzrinProbably involved in connections of major cytoskeletal structures to the plasma membrane.
SLC38A1Sodium-coupled neutral amino acid symporter 1Symporter that cotransports short-chain neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane.
CBX6Chromobox protein homolog 6Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development.
TAGAPT-cell activation Rho GTPase-activating proteinMay function as a GTPase-activating protein and may play important roles during T-cell activation.
CCNE1G1/S-specific cyclin-E1Essential for the control of the cell cycle at the G1/S (start) transition.
TP63Tumor protein 63Acts as a sequence specific DNA binding transcriptional activator or repressor.
APOBEC3ADNA dC->dU-editing enzyme APOBEC-3ADNA deaminase (cytidine deaminase) with restriction activity against viruses, foreign DNA and mobility of retrotransposons.
CLK3Dual specificity protein kinase CLK3Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates.
CDKAL1Threonylcarbamoyladenosine tRNA methylthiotransferaseCatalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.
RSPH3Radial spoke head protein 3 homologFunctions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.
BLTP3ABridge-like lipid transfer protein family member 3ATube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites.
CLPTM1LLipid scramblase CLPTM1LScramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to th…
TMEM129E3 ubiquitin-protein ligase TM129E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2.
CYP1A2Cytochrome P450 1A2A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins.
LRRC34Leucine-rich repeat-containing protein 34Highly expressed in stem cells where it may be involved in regulation of pluripotency.
FMN1Formin-1Plays a role in the formation of adherens junction and the polymerization of linear actin cables.
FOXF2Forkhead box protein F2Probable transcription activator for a number of lung-specific genes.
GSTM1Glutathione S-transferase Mu 1Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
HTR5A5-hydroxytryptamine receptor 5AG-protein coupled receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone and a mitogen.
INSIG1Insulin-induced gene 1 proteinOxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR.
JAG1Protein jagged-1Ligand for multiple Notch receptors and involved in the mediation of Notch signaling.
LSP1Lymphocyte-specific protein 1May play a role in mediating neutrophil activation and chemotaxis.
MYCMyc proto-oncogene proteinTranscription factor that binds DNA in a non-specific manner, yet also specifically recognizes the core sequence 5’-CAC[GA]TG-3'.
NBEANeurobeachinBinds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane.
PAXIP1PAX-interacting protein 1Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes.
POU5F1BPOU domain, class 5, transcription factor 1BShows weak transcriptional activator activity.
PRKAR2BcAMP-dependent protein kinase type II-beta regulatory subunitRegulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.
PSCAProstate stem cell antigenMay be involved in the regulation of cell proliferation.

Protein-family classification

Druggable: 13 · Difficult: 7 · Unknown: 30 · Druggable fraction: 0.26

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
Kinase52.8×0.268
Transporter23.1×0.541
Phosphatase11.7×0.812
Other/Unknown301.1×0.812
Transcription factor61.0×0.812
Enzyme (other)41.0×0.812
GPCR10.5×0.949
Scaffold/PPI10.3×0.949

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
FGFR3Kinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2
RNASE3Other/UnknownnoRNaseA, RNaseA_AS, RNaseA_domain
STAG2Other/UnknownnoSTAG, ARM-type_fold, SCD
TP53Transcription factornop53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
TSC1Other/UnknownnoHamartin
ERBB2Kinaseyes2.7.10.1Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom
ERCC1Other/UnknownnoERCC1/RAD10/SWI10, RuvA_2-like, Restrct_endonuc-II-like
FGFR1Kinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2
MTORKinaseyesPI3/4_kinase_cat_dom, PIK-rel_kinase_FAT, FATC_dom
PTENPhosphataseyes3.1.3.16Tyr_Pase_dom, Tyr_Pase_cat, Tensin_C2-dom
CWC27Enzyme (other)yes5.2.1.8Cyclophilin-type_PPIase_dom, Cyclophilin-type_PPIase_CS, Cyclophilin-like_dom_sf
SLBPOther/UnknownnoSLBP1/SLBP2, SLBP_RNA_bind, SLBP_RNA_bind_sf
SLC14A1TransporteryesUrea_transporter, Ammonium/urea_transptr
SLC14A2TransporteryesUrea_transporter, Ammonium/urea_transptr
TACC3Other/UnknownnoTACC_C, TACC, TACC3_Aurora-A_bind
TERCOther/Unknownno
TERTOther/UnknownnoRT_dom, Telomerase_RT, Telomerase_RBD
UGT1AOther/Unknownno
EZROther/UnknownnoFERM_domain, Ez/rad/moesin-like, Moesin_tail_sf
SLC38A1Other/UnknownnoAA_transpt_TM
MYNNTranscription factornoBTB/POZ_dom, SKP1/BTB/POZ_sf, Znf_C2H2_type
CBX6Other/UnknownnoChromo/chromo_shadow_dom, Chromo-like_dom_sf, Chromo_dom_subgr
TAGAPOther/UnknownnoRhoGAP_dom, Rho_GTPase_activation_prot, ARHGAP20-like_RhoGAP
CCNE1Other/UnknownnoCyclin_C-dom, Cyclin_N, Cyclin-like_dom
TP63Transcription factornoSAM, p53_tumour_suppressor, p53-like_TF_DNA-bd_sf
LINC02871Other/Unknownno
APOBEC3AEnzyme (other)yes3.5.4.38CMP_dCMP_dom, APOBEC/CMP_deaminase_Zn-bd, Cytidine_deaminase-like
CLK3Kinaseyes2.7.12.1Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
CDKAL1Other/UnknownnoTRAM_dom, Methylthiotransferase, MiaB-like_arc_euk
RSPH3Other/UnknownnoRadial_spoke_3
BLTP3AOther/UnknownnoBLTP3A/B
ACTRT3Other/UnknownnoActin, Actin/actin-like_CS, ATPase_NBD
CLPTM1LOther/UnknownnoCLPTM1
TMEM129Other/UnknownnoTM129
CYP1A2Enzyme (other)yes1.14.14.1Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_E_grp-I_CYP1
LRRC34Other/UnknownnoLeu-rich_rpt, LRR_dom_sf, LRR-containing_regulator
FMN1Other/UnknownnoFormin_Cappuccino_subfam, FH2_Formin, FH2_Formin_sf
FOXF2Transcription factornoFork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2
GSTM1Enzyme (other)yes2.5.1.18GST_mu, Glutathione_S-Trfase_N, GST_C
HTR5AGPCRyesGPCR_Rhodpsn, 5HT5A_rcpt, 5HT_rcpt
INSIG1Other/UnknownnoINSIG_fam
JAG1Other/UnknownnoEGF-type_Asp/Asn_hydroxyl_site, EGF, VWF_dom
LSP1Other/UnknownnoLymphspecific, Caldesmon_LSP
MYCTranscription factornoTscrpt_reg_Myc, Myc-LZ, bHLH_dom
NBEAScaffold/PPInoBEACH_dom, WD40_rpt, NBEA-like_DUF1088
PAXIP1Other/UnknownnoBRCT_dom, BRCT_dom_sf, DDR_Transcriptional_Reg
POU5F1BTranscription factornoPOU_dom, HD, Homeodomain-like_sf
PRKAR2BOther/UnknownnocNMP-bd_dom, cAMP_dep_PK_reg_su_I/II_a/b, cAMP_dep_PK_reg_su
PSCAOther/UnknownnoLY6_UPA_recep-like, Toxin/TOLIP, Snake_toxin-like_sf
PVT1Other/Unknownno

Expression context

Cohort genes with no expression data: 1.

43 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)49
unknown1

Top tissues across cohort

TissueCohort genes
secondary oocyte6
buccal mucosa cell5
sperm5
upper leg skin4
calcaneal tendon4
lower esophagus mucosa4
primordial germ cell in gonad4
oocyte4
male germ line stem cell (sensu Vertebrata) in testis4
skin of hip3
bone marrow cell3
tendon of biceps brachii3
ventricular zone3
cerebellar hemisphere3
bronchial epithelial cell3
adrenal tissue3
cortical plate3
upper arm skin2
bone marrow2
trabecular bone tissue2

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
FGFR3262broadmarkerupper leg skin, skin of hip, upper arm skin
RNASE3147tissue_specificmarkertrabecular bone tissue, bone marrow, bone marrow cell
STAG2299ubiquitousmarkermucosa of paranasal sinus, calcaneal tendon, sural nerve
TP53223ubiquitousmarkerventricular zone, ganglionic eminence, tendon of biceps brachii
TSC1297ubiquitousmarkersubstantia nigra pars compacta, gluteal muscle, lateral globus pallidus
ERBB2276ubiquitousmarkerlower esophagus mucosa, right uterine tube, sural nerve
ERCC1285ubiquitousmarkerapex of heart, parotid gland, right atrium auricular region
FGFR1292ubiquitousmarkerbuccal mucosa cell, stromal cell of endometrium, calcaneal tendon
MTOR207ubiquitousmarkerprimordial germ cell in gonad, right hemisphere of cerebellum, cerebellar hemisphere
PTEN256ubiquitousmarkersperm, endothelial cell, calcaneal tendon
CWC27253ubiquitousmarkertendon of biceps brachii, medial globus pallidus, globus pallidus
SLBP288ubiquitousmarkeroocyte, secondary oocyte, adult organism
SLC14A1211broadmarkertibia, mucosa of urinary bladder, trabecular bone tissue
SLC14A2100tissue_specificmarkerprimordial germ cell in gonad, hair follicle, right adrenal gland
TACC3197ubiquitousmarkeroocyte, ventricular zone, secondary oocyte
TERC113ubiquitousyesbone marrow cell, colonic epithelium, male germ line stem cell (sensu Vertebrata) in testis
TERT105broadyesstromal cell of endometrium, type B pancreatic cell, olfactory bulb
UGT1A
EZR291ubiquitousmarkerventricular zone, bronchial epithelial cell, epithelium of bronchus
SLC38A1282ubiquitousmarkerlateral nuclear group of thalamus, seminal vesicle, superficial temporal artery
MYNN274ubiquitousmarkerbuccal mucosa cell, secondary oocyte, male germ line stem cell (sensu Vertebrata) in testis
CBX6286ubiquitousmarkerBrodmann (1909) area 10, postcentral gyrus, parietal lobe
TAGAP210broadmarkerbone marrow cell, blood, bone marrow
CCNE1201ubiquitousmarkersecondary oocyte, oocyte, adrenal tissue
TP63207broadmarkerupper leg skin, skin of hip, upper arm skin
LINC02871158yessperm, buccal mucosa cell, male germ line stem cell (sensu Vertebrata) in testis
APOBEC3A213broadmarkermonocyte, mononuclear cell, leukocyte
CLK3276ubiquitousmarkerlower esophagus mucosa, granulocyte, left testis
CDKAL1201ubiquitousmarkerbuccal mucosa cell, calcaneal tendon, ganglionic eminence
RSPH3243ubiquitousmarkerbronchial epithelial cell, oviduct epithelium, bronchus

Protein interactions among cohort

Intra-cohort edges: 21.

Hub genes (top 10 by interactor count)

SymbolInteractor count
TP5322,736
MYC20,608
PTEN11,626
ERBB29,659
MTOR9,490
TERT5,717
FGFR15,693
TSC15,445
EZR4,626
FGFR34,510

Intra-cohort edges

ABSources
ACTRT3LRRC34string_interaction
ACTRT3MYNNstring_interaction
APOBEC3ACBX6string_interaction
CCNE1MYCstring_interaction
CCNE1TP53string_interaction
CLPTM1LTERTstring_interaction
FGFR1TACC3string_interaction
FGFR3TACC3string_interaction
LRRC34MYNNstring_interaction
MTORPTENstring_interaction
MTORTSC1string_interaction
MYCPOU5F1Bstring_interaction
MYCTP53string_interaction
MYCTP63string_interaction
PTENTP53string_interaction
PTENTSC1string_interaction
RSPH3TAGAPstring_interaction
SLBPTACC3biogrid_interaction
SLBPTMEM129string_interaction
TACC3TMEM129string_interaction
TP53TP63biogrid_interaction, intact

Structural data

PDB: 35 · AlphaFold-only: 11 · No structure: 4

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
TP53P04637313
FGFR1P1136283
MTORP4234570
ERBB2P0462663
TP63Q9H3D426
MYCP0110625
TERTO1474623
CCNE1P2486422
CLK3P4976122
FGFR3P2260715
ERCC1P0799214
PTENP6048412
APOBEC3AP3194112
RNASE3P1272411
STAG2Q8N3U49
CWC27Q6UX049
SLC14A2Q158499
EZRP153117
GSTM1P094887
JAG1P785047
TACC3Q9Y6A56
HTR5AP478986
TSC1Q925745
SLC14A1Q133365
SLBPQ144933
LSP1P332413
CBX6O955032
MYNNQ9NPC71
RSPH3Q86UC21
CYP1A2P051771

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ACTRT3Q9BYD994.47
TMEM129A0AVI488.77
CDKAL1Q5VV4282.72
SLC38A1Q9H2H979.81
PRKAR2BP3132379.37
CLPTM1LQ96KA578.54
BLTP3AQ6BDS267.37
POU5F1BQ0641665.97
FOXF2Q1294758.04
TAGAPQ8N10357.36
FMN1Q68DA755.95

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 388. Enrichment computed across 50 evidence-associated genes (35 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 35 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
TP53 Regulates Metabolic Genes518.5×0.003TP53, TSC1, TP63, MTOR, PTEN
Regulation of PTEN gene transcription420.4×0.006TP53, CBX6, MTOR, PTEN
Signaling by NOTCH420.1×0.006TACC3, JAG1, MYC, NBEA
Signal Transduction123.5×0.007STAG2, TACC3, TERT, CBX6, TAGAP, CCNE1, MTOR, HTR5A (+4 more)
Signaling by NOTCH1330.6×0.010JAG1, MYC, NBEA
PIP3 activates AKT signaling59.5×0.010FGFR3, CBX6, ERBB2, FGFR1, MTOR
Activation of PUMA and translocation to mitochondria265.3×0.022TP53, TP63
TP53 Regulates Transcription of Caspase Activators and Caspases254.4×0.023TP53, TP63
TP53 Regulates Transcription of Death Receptors and Ligands254.4×0.023TP53, TP63
Intracellular signaling by second messengers410.4×0.023CBX6, MTOR, NBEA, PRKAR2B
Regulation of TP53 Activity through Association with Co-factors246.6×0.024TP53, TP63
SLC-mediated transport of organic cations243.5×0.024SLC14A1, SLC14A2
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain243.5×0.024TP53, TP63
Developmental Lineage of Mammary Stem Cells243.5×0.024TP63, ERBB2
S Phase315.5×0.024STAG2, CCNE1, MYC
TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest240.8×0.026TP53, CCNE1
PKA activation236.2×0.031NBEA, PRKAR2B
PKA-mediated phosphorylation of CREB232.6×0.036NBEA, PRKAR2B
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release231.1×0.036TP53, TP63
Developmental Lineage of Mammary Gland Myoepithelial Cells231.1×0.036TP63, ERBB2
t(4;14) translocations of FGFR31326.3×0.036FGFR3
Aromatic amines can be N-hydroxylated or N-dealkylated by CYP1A21326.3×0.036CYP1A2
Signaling by FGFR3 fusions in cancer1326.3×0.036FGFR3
Loss of function of TP53 in cancer due to loss of tetramerization ability1326.3×0.036TP53
Signaling by NOTCH3229.7×0.036TACC3, JAG1
Signaling by NOTCH4228.4×0.036TACC3, JAG1
NOTCH3 Activation and Transmission of Signal to the Nucleus227.2×0.036TACC3, JAG1
Developmental Lineage of Mammary Gland Luminal Epithelial Cells226.1×0.036TP63, ERBB2
G0 and Early G1225.1×0.036CCNE1, MYC
Pyroptosis224.2×0.036TP53, TP63

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 43 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
negative regulation of cell size3117.6×0.001TSC1, MTOR, PTEN
replicative senescence369.2×0.004TERT, TP53, ERCC1
urea transport2195.9×0.005SLC14A1, SLC14A2
middle ear morphogenesis349.0×0.005FGFR1, INSIG1, MYC
negative regulation of cellular senescence345.2×0.005TERT, TP63, PTEN
positive regulation of phospholipase activity2156.8×0.006FGFR3, FGFR1
urea transmembrane transport2156.8×0.006SLC14A1, SLC14A2
positive regulation of stem cell proliferation336.7×0.006TERT, TP63, FGFR1
regulation of cell cycle G2/M phase transition2112.0×0.009TP53, PAXIP1
determination of adult lifespan330.1×0.009TP53, TP63, ERCC1
stem cell proliferation321.8×0.023TP53, TP63, FGFR1
positive regulation of miRNA transcription320.3×0.024TERT, TP53, MYC
cellular response to hypoxia411.3×0.024TERT, TP53, MTOR, MYC
cardiac septum morphogenesis256.0×0.025TP53, JAG1
positive regulation of transcription initiation by RNA polymerase II319.0×0.025ERCC1, MYC, PAXIP1
telomere maintenance318.7×0.025TERT, CCNE1, LRRC34
negative regulation of macroautophagy252.2×0.027TSC1, MTOR
RNA-templated transcription1391.9×0.041TERT
ectoderm and mesoderm interaction1391.9×0.041TP63
toxin biosynthetic process1391.9×0.041CYP1A2
epidermal cell division1391.9×0.041TP63
DNA strand elongation1391.9×0.041TERT
tRNA methylthiolation1391.9×0.041CDKAL1
negative regulation of developmental growth1391.9×0.041FGFR3
negative regulation of helicase activity1391.9×0.041TP53
endocardial cushion cell development1391.9×0.041JAG1
positive regulation of SCF-dependent proteasomal ubiquitin-dependent catabolic process1391.9×0.041MTOR
negative regulation of protein exit from endoplasmic reticulum1391.9×0.041INSIG1
cellular response to actinomycin D1391.9×0.041TP53
positive regulation of metanephric cap mesenchymal cell proliferation1391.9×0.041MYC

Therapeutics

Drug target analysis

Approved (phase 4): 11 · Phase ≥3: 12 · Phased (≥1): 13 · Undrugged: 37

Druggability breadth: 28 of 50 evidence-associated genes (56%) 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
FGFR3PONATINIB
TP53NITROFURANTOIN
ERBB2CLOTRIMAZOLE
FGFR1PONATINIB
MTORSALMETEROL XINAFOATE
TERTBERBERINE
CCNE1PALBOCICLIB
APOBEC3ATRIMETAZIDINE DIHYDROCHLORIDE
CLK3ALECTINIB
CYP1A2LEVOSALBUTAMOL
HTR5AIMIPRAMINE

Top cohort targets by molecule count

SymbolMoleculesMax phase
CYP1A24004
TP531964
MTOR1644
FGFR1934
ERBB2834
FGFR3644
HTR5A444
CCNE1384
CLK3234
TERT104

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PONATINIB4ERBB2, FGFR1, FGFR3
PEMIGATINIB4FGFR1, FGFR3
NINTEDANIB4FGFR1, FGFR3
FEDRATINIB4FGFR1, FGFR3
LENVATINIB4FGFR1, FGFR3
AXITINIB4FGFR1, FGFR3
SORAFENIB4ERBB2, FGFR1, FGFR3, HTR5A
INFIGRATINIB PHOSPHATE4FGFR1, FGFR3
INFIGRATINIB4FGFR1, FGFR3
ENTRECTINIB4FGFR1, FGFR3
CERITINIB4FGFR3
VANDETANIB4ERBB2, FGFR1, FGFR3
NINTEDANIB ESYLATE4FGFR1, FGFR3
BRIGATINIB4ERBB2, FGFR1, FGFR3
ERDAFITINIB4FGFR1, FGFR3
FUTIBATINIB4FGFR1, FGFR3
PAZOPANIB4CYP1A2, FGFR1, FGFR3
SUNITINIB4FGFR1, FGFR3, HTR5A
DASATINIB4ERBB2, FGFR1, FGFR3, MTOR
CRIZOTINIB4FGFR3
MIDOSTAURIN4CLK3, FGFR1, FGFR3
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4CYP1A2, TP53
CLOTRIMAZOLE4CYP1A2, ERBB2, TP53
COLCHICINE4CYP1A2, TP53
NABUMETONE4CYP1A2, TP53
SALMETEROL XINAFOATE4MTOR, TP53

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 9.

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

SymbolAssaysType breakdown
CYP1A22,805ADMET:2748, Binding:55, Functional:1, Toxicity:1
FGFR11,465Binding:1428, Functional:24, ADMET:13
MTOR1,375Binding:1335, Functional:37, ADMET:2, Toxicity:1
ERBB21,221Binding:1136, Functional:79, ADMET:6
FGFR3975Binding:948, Functional:18, ADMET:9
TP53869Binding:775, ADMET:83, Functional:10, Toxicity:1
CCNE1691Binding:690, ADMET:1
TERT391Binding:389, Functional:2
HTR5A327Binding:294, Functional:29, ADMET:4
CLK3294Binding:292, Functional:2
MYC202Binding:202
ERCC128Binding:28
GSTM114Binding:12, ADMET:2
CBX69Binding:9
PTEN8Binding:8
APOBEC3A8Functional:4, Binding:4
CWC277Binding:7
EZR4Binding:4
SLC14A13Binding:3
TACC33Binding:3
SLC38A12Binding:2
MYNN2Binding:2
CDKAL11Binding:1
CLPTM1L1Binding:1
INSIG11Binding:1
JAG11Binding:1
PRKAR2B1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
FGFR32.7.10.1receptor protein-tyrosine kinase
ERBB22.7.10.1receptor protein-tyrosine kinase
FGFR12.7.10.1receptor protein-tyrosine kinase
PTEN3.1.3.16, 3.1.3.67protein-serine/threonine phosphatase, phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase
CWC275.2.1.8peptidylprolyl isomerase
APOBEC3A3.5.4.38single-stranded DNA cytosine deaminase
CLK32.7.12.1dual-specificity kinase
CYP1A21.14.14.1, 1.14.99.38unspecific monooxygenase, cholesterol 25-monooxygenase
GSTM12.5.1.18glutathione transferase

Cohort genes with high screening signal

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

SymbolChEMBL assays
FGFR3975
TP53869
ERBB21,221
FGFR11,465
MTOR1,375
TERT391
CCNE1691
CLK3294
CYP1A22,805
HTR5A327
MYC202

Pharmacogenomics

Cohort genes with a PharmGKB record: 49; with CPIC/DPWG dosing guidelines: 0.

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

Drug repurposing candidates

28 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)
PONATINIB4ERBB2, FGFR1, FGFR3
PEMIGATINIB4FGFR1, FGFR3
NINTEDANIB4FGFR1, FGFR3
FEDRATINIB4FGFR1, FGFR3
LENVATINIB4FGFR1, FGFR3
AXITINIB4FGFR1, FGFR3
SORAFENIB4ERBB2, FGFR1, FGFR3, HTR5A
INFIGRATINIB PHOSPHATE4FGFR1, FGFR3
INFIGRATINIB4FGFR1, FGFR3
ENTRECTINIB4FGFR1, FGFR3
CERITINIB4FGFR3
VANDETANIB4ERBB2, FGFR1, FGFR3
NINTEDANIB ESYLATE4FGFR1, FGFR3
BRIGATINIB4ERBB2, FGFR1, FGFR3
FUTIBATINIB4FGFR1, FGFR3
PAZOPANIB4CYP1A2, FGFR1, FGFR3
DASATINIB4ERBB2, FGFR1, FGFR3, MTOR
CRIZOTINIB4FGFR3
MIDOSTAURIN4CLK3, FGFR1, FGFR3
NITROFURANTOIN4TP53
DIOSMIN4TP53
VERTEPORFIN4TP53
CANDESARTAN CILEXETIL4TP53
DIENESTROL4CYP1A2, TP53
CLOTRIMAZOLE4CYP1A2, ERBB2, TP53
COLCHICINE4CYP1A2, TP53
NABUMETONE4CYP1A2, TP53
SALMETEROL XINAFOATE4MTOR, TP53

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)11FGFR3, TP53, ERBB2, FGFR1, MTOR, TERT, CCNE1, APOBEC3A, CLK3, CYP1A2 (+1 more)
BPhased (≥1) drug, not yet approved2CWC27, MYC
CDruggable family + PDB, no drug4PTEN, SLC14A1, SLC14A2, GSTM1
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug33RNASE3, STAG2, TSC1, ERCC1, SLBP, TACC3, TERC, UGT1A, EZR, SLC38A1 (+23 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
TSC10MTOR
PTEN8TP53
TACC33FGFR3
CLPTM1L1TERT
POU5F1B0MYC
RNASE30—
STAG20—
ERCC128—
SLBP0—
SLC14A13—
SLC14A20—
TERC0—
UGT1A0—
EZR4—
SLC38A12—
MYNN2—
CBX69—
TAGAP0—
TP630—
LINC028710—
CDKAL11—
RSPH30—
BLTP3A0—
ACTRT30—
TMEM1290—
LRRC340—
FMN10—
FOXF20—
GSTM114—
INSIG11—

Clinical trials & evidence

Clinical trials

Clinical trials: 1,314.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified406
PHASE2303
PHASE1148
PHASE3110
PHASE1/PHASE283
PHASE420
EARLY_PHASE116
PHASE2/PHASE314

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04532606PHASE4RECRUITINGImpact of Remimazolam on Prognosis After Bladder Cancer Surgery
NCT06548438PHASE4NOT_YET_RECRUITINGThe Impact of PDD During TURB for NMIBC
NCT06764095PHASE4RECRUITINGEnfortumab Vedotin and Pembrolizumab With Cystectomy and/or Ureterectomy for Locally Advanced or Metastatic Bladder and Upper Urothelial Tract Cancer, CAST-AI Trial
NCT00365508PHASE4COMPLETEDCounseling and Nicotine Replacement Therapy in Helping Adult Smokers Quit Smoking
NCT00666978PHASE4COMPLETEDHealth Education Counseling With or Without Bupropion in Helping African Americans Stop Smoking
NCT00785694PHASE4WITHDRAWNRecurrence of Bladder Cancer After Transurethral Resection With Hexvix
NCT02001857PHASE4COMPLETEDEffect of TachoSil® on Incidence of Symptomatic and Radiographic Lymphoceles After Extended Pelvic Lymph Node Dissection in Prostate and Bladder Cancer.
NCT02443844PHASE4UNKNOWNComparison of Medical and Surgical Treatments of Benign Prostate Hyperplasia in Patients Who Have Low Grade Non Muscle Invasive Bladder Cancer for Tumour Recurrence and Progression
NCT03063255PHASE4COMPLETEDComparison of Obturator Nerve Blockade and Neuromuscular Blockade
NCT03138967PHASE4COMPLETEDInvestigation of Sugammadex in Outpatient Urological Procedures
NCT03147586PHASE4UNKNOWNInfluence of Immune Nutrition Diet on 90-Day Outcomes in Patients Undergoing Radical Cystectomy
NCT03147599PHASE4COMPLETEDMebeverine For 1st Year Daytime And Nocturnal Incontinence After Orthotopic W-Ileal Neobladders
NCT03174912PHASE4COMPLETEDIn the Prediction of Recurrence and Progression of NMIBC; EORTC or CUETO or Both?
NCT03274284PHASE4UNKNOWNChemoradiotherapy for Recurrent T1G3 Bladder Cancer
NCT03348969PHASE4COMPLETEDNeoadjuvant Short-term Intensive Chemoresection Versus Standard Adjuvant Intravesical Instillations in NMIBC
NCT03790384PHASE4UNKNOWNSequential Combination Therapy in Bladder Cancer
NCT03831321PHASE4UNKNOWNThe Effect of Preemptive Analgesia On The Comfort Of Patient and Doctor, in Cystoscopy
NCT04502095PHASE4COMPLETEDProphylactic Antibiotics for Urinary Tract Infections After Robot-Assisted Radical Cystectomy
NCT05488353PHASE4UNKNOWNA Clinical Study of Disitamab Vedotin for Injection Combined With Penpulimab Injection in Neoadjuvant Therapy for Patients With HER2-expressing Cisplatin-intolerant cT2-T4aNxM0 Bladder Urothelial Carcinoma
NCT06390111PHASE4WITHDRAWNA Trial to Evaluate Efficacy of Reinduction With Nadofaragene Firadenovec in Subjects With CIS ± High-grade Ta/T1 and no Complete Response to First Nadofaragene Firadenovec Dose.
NCT02951325PHASE3ACTIVE_NOT_RECRUITINGBladder Cancer Adjuvant Radiotherapy Trial
NCT03022825PHASE2/PHASE3ACTIVE_NOT_RECRUITINGQUILT-3.032: A Multicenter Clinical Trial of Intravesical Bacillus Calmette-Guerin (BCG) in Combination With ALT-803 (N-803) in Patients With BCG Unresponsive High Grade Non-Muscle Invasive Bladder Cancer
NCT03216525PHASE3RECRUITINGAlvimopan Versus Placebo in Patients Undergoing Radical Cystectomy on an Enhanced Recovery Protocol
NCT03757949PHASE3ACTIVE_NOT_RECRUITINGNutrition Therapy in Improving Immune System in Patients With Bladder Cancer That Can Be Removed by Surgery
NCT03775265PHASE3ACTIVE_NOT_RECRUITINGChemoradiotherapy With or Without Atezolizumab in Treating Patients With Localized Muscle Invasive Bladder Cancer
NCT03799835PHASE3ACTIVE_NOT_RECRUITINGAtezolizumab Plus One-year BCG Bladder Instillation in BCG-naive High-risk Non-muscle Invasive Bladder Cancer Patients
NCT04574960PHASE3RECRUITINGNeoadjuvant Upper Tract Invasive Cancer Trial (NAUTICAL)
NCT04579224PHASE3ACTIVE_NOT_RECRUITINGComparing the New Anti-cancer Drug Eribulin With Chemotherapy Against the Usual Chemotherapy Alone in Metastatic Urothelial Cancer
NCT04947059PHASE3RECRUITINGEffectiveness of an Immediate Postoperative Intravesical Instillation With Either Gemcitabine or Epirubicin in Patients With Urinary Bladder Cancer (Gemcitabine Epirubicin Normal SAline)
NCT05037279PHASE3RECRUITINGEvaluating Safety and Efficacy of Verity-BCG in BCG-naïve Patients With Intermediate and High-risk Non-muscle Invasive Bladder (NMIBC)
NCT05092958PHASE3ACTIVE_NOT_RECRUITINGTesting the Addition of the Anti-cancer Drug, Cabozantinib, to the Usual Immunotherapy Treatment, Avelumab, in Patients With Metastatic Urothelial Cancer, MAIN-CAV Study
NCT05243550PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Single-Arm Study of UGN-102 for Treatment of Low-Grade Intermediate-Risk Non-Muscle Invasive Bladder Cancer
NCT05704244PHASE3ACTIVE_NOT_RECRUITINGSafety and Efficacy of FE 999326 Administered Intravesically to Japanese Subjects With High-grade, BCG Unresponsive, Non-muscle Invasive Bladder Cancer (NMIBC)
NCT05714202PHASE3ACTIVE_NOT_RECRUITINGA Study of TAR-200 in Combination With Cetrelimab or TAR-200 Alone Versus Intravesical Bacillus Calmette-Guérin (BCG) in Participants With BCG-naïve High-risk Non-muscle Invasive Bladder Cancer (HR-NMIBC)
NCT05726786PHASE3RECRUITINGThe Role of Preoperative Immunonutrition on Morbidity and Immune Response After Cystectomy (INCyst Trial)
NCT05810623PHASE3NOT_YET_RECRUITINGSingle-Dose Intravesical Chemotherapy After Diagnostic URS
NCT05822934PHASE3ACTIVE_NOT_RECRUITINGCarboplatin-gemcitabine Versus Cisplatin- Gemcitabine as Neoadjuvant Chemotherapy for Treatment of Muscle Invasive Urinary Bladder Cancer
NCT06111235PHASE3ACTIVE_NOT_RECRUITINGA Study of Adjuvant Cretostimogene Grenadenorepvec for Treatment of Intermediate Risk NMIBC Following TURBT
NCT06331299PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study of UGN-103 for Treatment of Patients With Low-grade Intermediate-risk Non-muscle Invasive Bladder Cancer
NCT06364904PHASE3NOT_YET_RECRUITINGA Clinical Trail to Determine the Safety and Efficacy of the Combination of Tislelizumab With Cisplatin and Gemcitabine, With or Without Trilaciclib for Patients With Untreated Unresectable and Metastatic Urothelial Carcinoma.

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
MITOMYCIN419
SUNITINIB419
VINBLASTINE415
ENFORTUMAB VEDOTIN414
GEMCITABINE414
HEXAMINOLEVULINATE412
CABOZANTINIB411
VINFLUNINE49
ERDAFITINIB45
TREMELIMUMAB45
SACITUZUMAB GOVITECAN44
VALRUBICIN44
ATEZOLIZUMAB43
AVELUMAB43
CARBOPLATIN43
ERIBULIN MESYLATE43
NICOTINE43
PACLITAXEL43
ROMIDEPSIN43
SORAFENIB TOSYLATE43
TRASTUZUMAB EMTANSINE43
AFATINIB42
AFATINIB DIMALEATE42
ALVIMOPAN42
AMIFOSTINE42
CEMIPLIMAB42
CISPLATIN42
DICLOFENAC SODIUM42
DOXORUBICIN HYDROCHLORIDE42
FILGRASTIM42

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 34 predictive associations from 34 curated evidence items; also 9 oncogenic, 4 prognostic, 1 diagnostic.

Molecular subtypeTherapyEffectLevelCIViC
FGFR2::v FusionErdafitinibSensitivity/ResponseCIViC AEID11257
FGFR3::v FusionErdafitinibSensitivity/ResponseCIViC AEID11258
ERBB2 AmplificationTrastuzumab + PertuzumabSensitivity/ResponseCIViC BEID5982
ERBB2 G292RNeratinibSensitivity/ResponseCIViC BEID12119
ERCC1 ExpressionCisplatinSensitivity/ResponseCIViC BEID809
FGFR3 MutationInfigratinibSensitivity/ResponseCIViC BEID1910
FGFR3 MutationCisplatin + GemcitabineSensitivity/ResponseCIViC BEID7566
FGFR3 R248CInfigratinibSensitivity/ResponseCIViC BEID8318
TSC1 Loss-of-functionEverolimusSensitivity/ResponseCIViC BEID155
PTEN LossEverolimusResistanceCIViC BEID644
ERCC1 ExpressionPaclitaxel + Cisplatin + GemcitabineCIViC BEID6438
ERBB2 D769HChemotherapySensitivity/ResponseCIViC CEID11499
ERBB2 MutationPlatinum CompoundSensitivity/ResponseCIViC CEID1694
ERBB2 R678LChemotherapySensitivity/ResponseCIViC CEID11498
ERBB2 S310FChemotherapySensitivity/ResponseCIViC CEID11496
ERBB2 S310F AND NOT ERBB2 T306MChemotherapySensitivity/ResponseCIViC CEID11497
ERBB2 V777MChemotherapySensitivity/ResponseCIViC CEID11500
ERBB2 V842IChemotherapySensitivity/ResponseCIViC CEID11501
ERCC2 D257NChemotherapySensitivity/ResponseCIViC CEID11506
ERCC2 E86QChemotherapySensitivity/ResponseCIViC CEID11503
ERCC2 N238SChemotherapySensitivity/ResponseCIViC CEID11505
ERCC2 S44LChemotherapySensitivity/ResponseCIViC CEID11502
ERCC2 T484MChemotherapySensitivity/ResponseCIViC CEID11507
ERCC2 Y72CChemotherapySensitivity/ResponseCIViC CEID11504
FGFR1 AmplificationInfigratinibSensitivity/ResponseCIViC CEID1911
MTOR MutationEverolimus + PazopanibSensitivity/ResponseCIViC CEID705
FGFR1 ExpressionPD173074 + DovitinibSensitivity/ResponseCIViC DEID801
FGFR3 OverexpressionPD173074 + Dovitinib + Tyrosine Kinase Inhibitor SU5402Sensitivity/ResponseCIViC DEID803
FGFR3 S249CErdafitinibSensitivity/ResponseCIViC DEID8811
FGFR3::BAIAP2L1 FusionPD173074Sensitivity/ResponseCIViC DEID144

+4 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_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterprointogenmedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot