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Atlas / Disease / Epstein-Barr virus infection

Epstein-Barr virus infection

disease
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Also known as EBV infectionEBV infectionsEpstein Barr Virus infectionsHerpesvirus 4 infections, HumanHuman gammaherpesvirus 4 caused disease or disorderHuman gammaherpesvirus 4 disease or disorderHuman gammaherpesvirus 4 infectious diseaseHuman Herpes Virus 4 infectionsHuman Herpesvirus 4 infectionsinfections, EBVinfections, Epstein-Barr VirusVirus infections, Epstein-Barr

Summary

Epstein-Barr virus infection (MONDO:0005111) is a disease with 64 cohort genes (54 GWAS associations across 11 studies) and 72 clinical trials. Top therapeutic interventions include darunavir, valganciclovir, and brentuximab vedotin.

At a glance

  • Cohort genes: 64
  • GWAS associations: 54
  • Clinical trials: 72

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameEpstein-Barr virus infection
Mondo IDMONDO:0005111
EFOEFO:0000769
MeSHD020031
DOIDDOID:2938
NCITC38759
UMLSC0149678
MedGen57439
Is cancer (heuristic)no

Also known as: EBV infection · EBV infections · Epstein Barr Virus infections · Epstein-Barr Virus infection · Herpesvirus 4 infections, Human · Human gammaherpesvirus 4 caused disease or disorder · Human gammaherpesvirus 4 disease or disorder · Human gammaherpesvirus 4 infectious disease · Human Herpes Virus 4 infections · Human Herpesvirus 4 infections · infections, EBV · infections, Epstein-Barr Virus · Virus infections, Epstein-Barr

Data availability: 54 GWAS associations (11 studies) · 1 GenCC gene-disease record.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › viral infectious disease › primary viral infectious disease › Herpesviridae infectious disease › Epstein-Barr virus infection

Related subtypes (7): herpetic gastritis, herpes simplex infectious disease, cytomegalovirus infection, human herpesvirus 8 infection, varicella zoster infection, roseolovirus infectious disease, congenital herpes virus infection

Subtypes (2): Epstein-Barr virus hepatitis, infectious mononucleosis

Genetics & variants

GWAS landscape

54 GWAS associations across 11 studies. Top hits map to 37 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs25482255e-58LNPEPA0.11
rs130988773e-31LPPC0.08
rs24766013e-16AP4B1-AS1, PTPN22A0.09
rs345574127e-15TNFRSF13BA0.31
rs7015371e-14UBAC2A0.05
rs4775153e-13HLA-DRB1 - HLA-DQA1T0.28
rs37663705e-13SLAMF7C0.05
rs11063463e-12PARP15A0.05
rs14911908148e-12EOMES - LINC01980ATT0.05
rs28542752e-10HLA-DQB1-AS1, HLA-DQB1T0.45
rs8841864e-10KSR1A0.08
rs98288691e-08Y_RNA - CD86T0.04
rs61054522e-08MACROD2?
rs1381176772e-07RPL7L1P19 - OR2C1?
rs2006557683e-07TTN, TTN-AS1?
rs121541414e-07KHDRBS2 - DHFRP5?
rs11610985e-07LINC02408?
rs3148795e-07DDX39AP1 - SNORD36?
rs5944187e-07NRG3?
rs67978277e-07LINC01205 - NFYBP1?
rs802742841e-06SLC22A15?
rs127590541e-06SLC35F3?
rs58618951e-06ZSWIM5P3 - LINC02466?
rs21534861e-06LINC02330 - GALC?
rs623093851e-06RNU1-89P - TERF1P3?
rs1166715181e-06DKK2?
rs10626301e-06POU5F1?
rs113245402e-06KHDRBS2?
rs2012557862e-06PCDH15?
rs2017619092e-06CEACAM5?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90809298Schmidt A202656,180304,103Host control of persistent Epstein-Barr virus infection.
GCST90809302Schmidt A202656,161303,977Host control of persistent Epstein-Barr virus infection.
GCST90809303Schmidt A202656,161303,977Host control of persistent Epstein-Barr virus infection.
GCST90809304Schmidt A202656,161303,977Host control of persistent Epstein-Barr virus infection.
GCST90809300Schmidt A202635,688303,977Host control of persistent Epstein-Barr virus infection.
GCST90809305Schmidt A202628,323164,626Host control of persistent Epstein-Barr virus infection.
GCST90809306Schmidt A202627,838139,351Host control of persistent Epstein-Barr virus infection.
GCST90809299Schmidt A202620,47735,703Host control of persistent Epstein-Barr virus infection.
GCST90809301Schmidt A202620,473303,977Host control of persistent Epstein-Barr virus infection.
GCST004735Mandage R201700Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding6
Tier 2: splice/UTR1
Tier 3: regulatory2
Tier 4: intronic/intergenic41

MAF distribution

BucketVariants
common (>=0.05)44
low_freq (0.01-0.05)0
rare (<0.01)1
unknown5

Functional consequences

ConsequenceCount
intron_variant22
intergenic_variant13
missense_variant6
synonymous_variant4
non_coding_transcript_exon_variant2
regulatory_region_variant2
3_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs2548225596937329A>C,T0.443intron_variantLNPEP5e-58Tier 4: intronic/intergenic
rs130988773188415375C>T0.445intron_variantLPP3e-31Tier 4: intronic/intergenic
rs24766011113834946A>G,T0.102missense_variantAP4B1-AS1, PTPN223e-16Tier 1: coding
rs345574121716948873A>G,T0.007missense_variantTNFRSF13B7e-15Tier 1: coding
rs7015371399386017A>C,G,T0.3443_prime_UTR_variantUBAC21e-14Tier 2: splice/UTR
rs477515632601914G>A,C,T0.32intergenic_variantHLA-DRB1 - HLA-DQA13e-13Tier 4: intronic/intergenic
rs37663701160741687C>G,T0.328intron_variantSLAMF75e-13Tier 4: intronic/intergenic
rs11063463122635190A>C,G,T0.371missense_variantPARP153e-12Tier 1: coding
rs14911908143277325610.407intergenic_variantEOMES - LINC019808e-12Tier 4: intronic/intergenic
rs2854275632660651C>A,G,T0.064non_coding_transcript_exon_variantHLA-DQB1-AS1, HLA-DQB12e-10Tier 4: intronic/intergenic
rs8841861727467663A>T0.083intron_variantKSR14e-10Tier 4: intronic/intergenic
rs98288693122029513T>A0.441intergenic_variantY_RNA - CD861e-08Tier 4: intronic/intergenic
rs61054522015683126C>T0.05intron_variantMACROD22e-08Tier 4: intronic/intergenic
rs138117677163348899AACTGGG>A0.05regulatory_region_variantRPL7L1P19 - OR2C12e-07Tier 3: regulatory
rs2006557682178711222G>A,Tsynonymous_variantTTN, TTN-AS13e-07Tier 4: intronic/intergenic
rs12154141662460168A>C,T0.05intergenic_variantKHDRBS2 - DHFRP54e-07Tier 4: intronic/intergenic
rs11610981267453680G>A,C0.05intron_variantLINC024085e-07Tier 4: intronic/intergenic
rs3148791322735243C>A,G,T0.05intergenic_variantDDX39AP1 - SNORD365e-07Tier 4: intronic/intergenic
rs5944181082625296G>A,C,T0.05intron_variantNRG37e-07Tier 4: intronic/intergenic
rs67978273109735523C>T0.05intron_variantLINC01205 - NFYBP17e-07Tier 4: intronic/intergenic
rs802742841116037356G>Tmissense_variantSLC22A151e-06Tier 1: coding
rs127590541233984064T>A,C,G0.05intron_variantSLC35F31e-06Tier 4: intronic/intergenic
rs58618954129344228CTT>C,CT,CTTT0.05regulatory_region_variantZSWIM5P3 - LINC024661e-06Tier 3: regulatory
rs21534861487737048C>G,T0.05intron_variantLINC02330 - GALC1e-06Tier 4: intronic/intergenic
rs623093854136134743G>C0.05intron_variantRNU1-89P - TERF1P31e-06Tier 4: intronic/intergenic
rs1166715184107189709T>C0.05intergenic_variantDKK21e-06Tier 4: intronic/intergenic
rs1062630631170330G>A0.05synonymous_variantPOU5F11e-06Tier 4: intronic/intergenic
rs11324540662002189TAA>T,TA,TAAA0.05intron_variantKHDRBS22e-06Tier 4: intronic/intergenic
rs2012557861053806747C>Tsynonymous_variantPCDH152e-06Tier 4: intronic/intergenic
rs2017619091941720990T>Cmissense_variantCEACAM52e-06Tier 1: coding

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 53 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
IL27RAModerateAutosomal recessiveEpstein-Barr virus infection

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
SLC6A2Orphanet:443236Postural orthostatic tachycardia syndrome due to NET deficiency
TTNOrphanet:140922Titin-related limb-girdle muscular dystrophy R10
TTNOrphanet:154Familial isolated dilated cardiomyopathy
TTNOrphanet:169186Autosomal recessive centronuclear myopathy
TTNOrphanet:178464Hereditary myopathy with early respiratory failure
TTNOrphanet:289377Early-onset myopathy with fatal cardiomyopathy
TTNOrphanet:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TTNOrphanet:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TTNOrphanet:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TTNOrphanet:324604Classic multiminicore myopathy
TTNOrphanet:334Hereditary atrial fibrillation
TTNOrphanet:466921Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
TTNOrphanet:609Tibial muscular dystrophy
TTNOrphanet:707983Early-onset autosomal recessive TTN-related distal myopathy
WWOXOrphanet:25151046,XY partial gonadal dysgenesis
WWOXOrphanet:284282Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
WWOXOrphanet:708171Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy
WWOXOrphanet:99977Squamous cell carcinoma of the esophagus
PCDH15Orphanet:231169Usher syndrome type 1
PCDH15Orphanet:90636Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
CTNNA3Orphanet:293888Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
CTNNA3Orphanet:293899Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
CTNNA3Orphanet:293910Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ARSIOrphanet:401815Autosomal recessive spastic paraplegia type 66
GALCOrphanet:206436Infantile Krabbe disease
GALCOrphanet:206443Late-infantile/juvenile Krabbe disease
GALCOrphanet:206448Adult Krabbe disease
HAND2Orphanet:154Familial isolated dilated cardiomyopathy
HLA-BOrphanet:117Behçet disease
HLA-BOrphanet:275798Pulmonary arterial hypertension associated with connective tissue disease
HLA-BOrphanet:29207Reactive arthritis
HLA-BOrphanet:3287Takayasu arteritis
HLA-BOrphanet:36426Stevens-Johnson syndrome
HLA-BOrphanet:397Giant cell arteritis
HLA-DQB1Orphanet:2073Narcolepsy type 1
HLA-DQB1Orphanet:477738Pediatric multiple sclerosis
HLA-DQB1Orphanet:703Bullous pemphigoid
HLA-DQB1Orphanet:83465Narcolepsy type 2
HLA-DQB1Orphanet:930Idiopathic achalasia
HLA-DRB1Orphanet:2073Narcolepsy type 1
HLA-DRB1Orphanet:220393Diffuse cutaneous systemic sclerosis
HLA-DRB1Orphanet:220402Limited cutaneous systemic sclerosis
HLA-DRB1Orphanet:220407Limited systemic sclerosis
HLA-DRB1Orphanet:3437Vogt-Koyanagi-Harada disease
HLA-DRB1Orphanet:397Giant cell arteritis
HLA-DRB1Orphanet:477738Pediatric multiple sclerosis
HLA-DRB1Orphanet:536Systemic lupus erythematosus
HLA-DRB1Orphanet:545Follicular lymphoma
HLA-DRB1Orphanet:703Bullous pemphigoid
HLA-DRB1Orphanet:747Autoimmune pulmonary alveolar proteinosis

Cohort genes → proteins

64 cohort genes, 57 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only63
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
IL27RAHGNC:17290ENSG00000104998Q6UWB1Interleukin-27 receptor subunit alphagencc
SLC6A2HGNC:11048ENSG00000103546P23975Sodium-dependent noradrenaline transportergwas
SSTR2HGNC:11331ENSG00000180616P30874Somatostatin receptor type 2gwas
TTNHGNC:12403ENSG00000155657Q8WZ42Titingwas
WWOXHGNC:12799ENSG00000186153Q9NZC7WW domain-containing oxidoreductasegwas
ZNF75AHGNC:13146ENSG00000162086Q96N20Zinc finger protein 75Agwas
PRRC2AHGNC:13918ENSG00000204469P48634Protein PRRC2Agwas
GPANK1HGNC:13920ENSG00000204438O95872G patch domain and ankyrin repeat-containing protein 1gwas
C6orf15HGNC:13927ENSG00000204542Q6UXA7Uncharacterized protein C6orf15gwas
PRRT1HGNC:13943ENSG00000204314Q99946Proline-rich transmembrane protein 1gwas
CSMD1HGNC:14026ENSG00000183117Q96PZ7CUB and sushi domain-containing protein 1gwas
EHMT2HGNC:14129ENSG00000204371Q96KQ7Histone-lysine N-methyltransferase EHMT2gwas
PCDH18HGNC:14268ENSG00000189184Q9HCL0Protocadherin-18gwas
SLC39A11HGNC:14463ENSG00000133195Q8N1S5Zinc transporter ZIP11gwas
PARVAHGNC:14652ENSG00000197702Q9NVD7Alpha-parvingwas
PCDH15HGNC:14674ENSG00000150275Q96QU1Protocadherin-15gwas
GLRX3HGNC:15987ENSG00000108010O76003Glutaredoxin-3gwas
MACROD2HGNC:16126ENSG00000172264A1Z1Q3ADP-ribose glycohydrolase MACROD2gwas
NIBAN1HGNC:16784ENSG00000135842Q9BZQ8Protein Niban 1gwas
CPQHGNC:16910ENSG00000104324Q9Y646Carboxypeptidase Qgwas
SCRG1HGNC:17036ENSG00000164106O75711Scrapie-responsive protein 1gwas
PSORS1C1HGNC:17202ENSG00000204540Q9UIG5Psoriasis susceptibility 1 candidate gene 1 proteingwas
MTCH1HGNC:17586ENSG00000137409Q9NZJ7Mitochondrial carrier homolog 1gwas
DCPH1HGNC:17872ENSG00000146476Q9H993Damage-control phosphatase 1gwas
KHDRBS2HGNC:18114ENSG00000112232Q5VWX1KH domain-containing, RNA-binding, signal transduction-associated protein 2gwas
CEACAM5HGNC:1817ENSG00000105388P06731Cell adhesion molecule CEACAM5gwas
HSDL2HGNC:18572ENSG00000119471Q6YN16Hydroxysteroid dehydrogenase-like protein 2gwas
SYF2HGNC:19824ENSG00000117614O95926Pre-mRNA-splicing factor SYF2gwas
SLC22A15HGNC:20301ENSG00000163393Q8IZD6Solute carrier family 22 member 15gwas
FAM184AHGNC:20991ENSG00000111879Q8NB25Protein FAM184Agwas
LGSNHGNC:21016ENSG00000146166Q5TDP6Lengsingwas
LRRC61HGNC:21704ENSG00000127399Q9BV99Leucine-rich repeat-containing protein 61gwas
SLC35F3HGNC:23616ENSG00000183780Q8IY50Solute carrier family 35 member F3gwas
CTNNA3HGNC:2511ENSG00000183230Q9UI47Catenin alpha-3gwas
PLPPR1HGNC:25993ENSG00000148123Q8TBJ4Phospholipid phosphatase-related protein type 1gwas
C4orf33HGNC:27025ENSG00000151470Q8N1A6UPF0462 protein C4orf33gwas
LINC01148HGNC:27507ENSG00000258804long intergenic non-protein coding RNA 1148gwas
RBM46HGNC:28401ENSG00000151962Q8TBY0Probable RNA-binding protein 46gwas
TMED3HGNC:28889ENSG00000166557Q9Y3Q3Transmembrane emp24 domain-containing protein 3gwas
DKK2HGNC:2892ENSG00000155011Q9UBU2Dickkopf-related protein 2gwas
DLC1HGNC:2897ENSG00000164741Q96QB1Rho GTPase-activating protein 7gwas
CAND1HGNC:30688ENSG00000111530Q86VP6Cullin-associated NEDD8-dissociated protein 1gwas
ARSIHGNC:32521ENSG00000183876Q5FYB1Arylsulfatase Igwas
CAVIN4HGNC:33742ENSG00000170681Q5BKX8Caveolae-associated protein 4gwas
FGD2HGNC:3664ENSG00000146192Q7Z6J4FYVE, RhoGEF and PH domain-containing protein 2gwas
MIR378CHGNC:38374ENSG00000264803microRNA 378cgwas
BASP1P1HGNC:39418ENSG00000230535BASP1 pseudogene 1gwas
NECTIN3-AS1HGNC:40813ENSG00000242242Q1RN00Uncharacterized protein NECTIN3-AS1gwas
GALCHGNC:4115ENSG00000054983P54803Galactocerebrosidasegwas
MIR4445HGNC:41614ENSG00000265956microRNA 4445gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
IL27RAInterleukin-27 receptor subunit alphaReceptor for IL27.
SLC6A2Sodium-dependent noradrenaline transporterMediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signaling neurotransmitter in the autonomic sympathetic nervous system.
SSTR2Somatostatin receptor type 2Receptor for somatostatin-14 and -28.
TTNTitinKey component in the assembly and functioning of vertebrate striated muscles.
WWOXWW domain-containing oxidoreductasePutative oxidoreductase.
ZNF75AZinc finger protein 75AMay be involved in transcriptional regulation.
PRRC2AProtein PRRC2AMay play a role in the regulation of pre-mRNA splicing.
PRRT1Proline-rich transmembrane protein 1Required to maintain a pool of extrasynaptic AMPA-regulated glutamate receptors (AMPAR) which is necessary for synapse development and function.
CSMD1CUB and sushi domain-containing protein 1Potential suppressor of squamous cell carcinomas.
EHMT2Histone-lysine N-methyltransferase EHMT2Histone methyltransferase that specifically mono- and dimethylates ‘Lys-9’ of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin.
PCDH18Protocadherin-18Potential calcium-dependent cell-adhesion protein.
SLC39A11Zinc transporter ZIP11Zinc importer that regulates cytosolic zinc concentrations either via zinc influx from the extracellular compartment or efflux from intracellular organelles such as Golgi apparatus.
PARVAAlpha-parvinPlays a role in sarcomere organization and in smooth muscle cell contraction.
PCDH15Protocadherin-15Calcium-dependent cell-adhesion protein.
GLRX3Glutaredoxin-3Together with BOLA2, acts as a cytosolic iron-sulfur (Fe-S) cluster assembly factor that facilitates [2Fe-2S] cluster insertion into a subset of cytosolic proteins.
MACROD2ADP-ribose glycohydrolase MACROD2Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety.
NIBAN1Protein Niban 1Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1.
CPQCarboxypeptidase QCarboxypeptidase that may play an important role in the hydrolysis of circulating peptides.
MTCH1Mitochondrial carrier homolog 1Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane.
DCPH1Damage-control phosphatase 1Metal-dependent phosphatase that shows phosphatase activity against several substrates, including fructose-1-phosphate and fructose-6-phosphate.
KHDRBS2KH domain-containing, RNA-binding, signal transduction-associated protein 2RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion.
CEACAM5Cell adhesion molecule CEACAM5Cell surface glycoprotein that plays a role in cell adhesion, intracellular signaling and tumor progression.
HSDL2Hydroxysteroid dehydrogenase-like protein 2Has apparently no steroid dehydrogenase activity.
SYF2Pre-mRNA-splicing factor SYF2Involved in pre-mRNA splicing as component of the spliceosome.
SLC22A15Solute carrier family 22 member 15Organic zwitterion/cation transporter with apparent specificity for amino acids and their derivatives.
LGSNLengsinMay act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens.
SLC35F3Solute carrier family 35 member F3Mediates thiamine transport.
CTNNA3Catenin alpha-3May be involved in formation of stretch-resistant cell-cell adhesion complexes.
PLPPR1Phospholipid phosphatase-related protein type 1May play a role in neurite outgrowth and neurogenesis.
RBM46Probable RNA-binding protein 46Essential for male and female fertility, playing a crucial role in regulating germ cell development by ensuring the proper progression of meiosis prophase I.
TMED3Transmembrane emp24 domain-containing protein 3Potential role in vesicular protein trafficking, mainly in the early secretory pathway.
DKK2Dickkopf-related protein 2Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6.
DLC1Rho GTPase-activating protein 7Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling.
CAND1Cullin-associated NEDD8-dissociated protein 1Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate-recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complex…
ARSIArylsulfatase IDisplays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts.
CAVIN4Caveolae-associated protein 4Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation.
FGD2FYVE, RhoGEF and PH domain-containing protein 2Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP.
GALCGalactocerebrosidaseHydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine.
HAND2Heart- and neural crest derivatives-expressed protein 2Essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries.
HLA-BHLA class I histocompatibility antigen, B alpha chainAntigen-presenting major histocompatibility complex class I (MHCI) molecule.
HLA-DQB1HLA class II histocompatibility antigen, DQ beta 1 chainBinds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.
HLA-DRB1HLA class II histocompatibility antigen, DRB1 beta chainA beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule.
CADM1Cell adhesion molecule 1Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner.
NOTCH4Neurogenic locus notch homolog protein 4Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination.
NPY2RNeuropeptide Y receptor type 2Receptor for neuropeptide Y and peptide YY.
NRG3Pro-neuregulin-3, membrane-bound isoformDirect ligand for the ERBB4 tyrosine kinase receptor.
OR2C1Olfactory receptor 2C1Olfactory receptor that is activated by the binding of organosulfur odorants with thioether groups such as (methylthio)methanetiol (MTMT).
PAPSS1Bifunctional 3’-phosphoadenosine 5’-phosphosulfate synthase 1Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway.
POU5F1POU domain, class 5, transcription factor 1Transcription factor that binds to the octamer motif (5’-ATTTGCAT-3’).

Protein-family classification

Druggable: 18 · Difficult: 8 · Unknown: 38 · Druggable fraction: 0.28

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Antibody/Immunoglobulin62.7×0.243
Complement14.2×0.886
Phosphatase11.3×0.886
Transporter11.2×0.886
GPCR31.1×0.886
Scaffold/PPI41.1×0.886
Other/Unknown381.1×0.886
Kinase20.9×0.931
Protease10.6×0.960
Enzyme (other)30.6×0.960
Transcription factor40.5×0.960

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
IL27RAAntibody/ImmunoglobulinyesFN3_dom, Ig-like_fold, FN3_sf
SLC6A2Other/UnknownnoNa/ntran_symport, Na/ntran_symport_noradrenaline, SNS_sf
SSTR2GPCRyesGPCR_Rhodpsn, Somatstn_rcpt, Somatstn_rcpt_2
TTNKinaseyes2.7.11.1Prot_kinase_dom, Ig_sub2, Ig_sub
WWOXScaffold/PPInoWW_dom, SDR_fam, WW_dom_sf
ZNF75ATranscription factornoKRAB, Znf_C2H2_type, KRAB_dom_sf
PRRC2AOther/UnknownnoBAT2_N, PRRC2
GPANK1Scaffold/PPInoG_patch_dom, Ankyrin_rpt, Ankyrin_rpt-contain_sf
C6orf15Other/UnknownnoC6orf15
PRRT1Other/UnknownnoCD225/Dispanin_fam, CD225/Dispanin
CSMD1ComplementyesSushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
EHMT2Scaffold/PPIno2.1.1.355SET_dom, Ankyrin_rpt, Pre-SET_dom
PCDH18Other/UnknownnoCadherin-like_dom, Cadherin_N, Cadherin-like_sf
SLC39A11Other/UnknownnoZIP
PARVAOther/UnknownnoCH_dom, Parvin, CH_dom_sf
PCDH15Other/UnknownnoCadherin-like_dom, Cadherin-like_sf, Cadherin_CS
GLRX3Other/UnknownnoGlutaredoxin, Monothiol_GRX-rel, Thioredoxin_domain
MACROD2Enzyme (other)yes3.1.1.106Macro_dom, Macro_dom-like
NIBAN1Other/UnknownnoNiban-like, Niban_1/2/3_dom
CPQProteaseyesPeptidase_M28, CPQ
SCRG1Other/UnknownnoSCRG1
PSORS1C1Other/UnknownnoSEEK1
MTCH1Other/UnknownnoMCP_transmembrane, MCP_dom_sf
DCPH1Other/UnknownnoARMT1-like_metal-bd, ARMT-1-like_metal-bd_sf, ARMT1
KHDRBS2Other/UnknownnoKH_dom, Sam68-YY, Qua1_dom
CEACAM5Antibody/ImmunoglobulinyesIg_sub2, Ig_sub, Ig-like_dom
HSDL2Other/UnknownnoSDR_fam, SCP2_sterol-bd_dom, Sc_DH/Rdtase_CS
SYF2Other/UnknownnomRNA_splic_SYF2
SLC22A15TransporteryesMFS_sugar_transport-like, MFS_dom, MFS_trans_sf
FAM184AOther/UnknownnoFAM184A/B_N
LGSNOther/UnknownnoGln_synth_cat_dom, Gln_synt_N, Gln_synth/guanido_kin_cat_dom
LRRC61Other/UnknownnoLeu-rich_rpt, LRR_dom_sf
SLC35F3Other/UnknownnoEamA_dom, Solute_c_fam_35_mem_F3/F4, EmrE-like
CTNNA3Other/UnknownnoAlpha_catenin, Vinculin/catenin, Alpha-catenin/vinculin-like_sf
PLPPR1Enzyme (other)yes3.1.3.4PAP2/HPO, PAP2/HPO_sf, PAP-like
C4orf33Other/Unknownno
LINC01148Other/Unknownno
RBM46Other/UnknownnoRRM_dom, HnRNP_R/Q_splicing_fac, Nucleotide-bd_a/b_plait_sf
TMED3Other/UnknownnoGOLD_dom, Emp24-like, GOLD_dom_sf
DKK2Other/UnknownnoDickkopf_N, DKK1-4, Dkk2_Cys2
DLC1Other/UnknownnoRhoGAP_dom, SAM, START_lipid-bd_dom
CAND1Other/UnknownnoARM-like, TATA-bd_TIP120, ARM-type_fold
ARSIPhosphataseyesSulfatase_N, Alkaline_phosphatase_core_sf, Sulfatase_CS
CAVIN4Other/UnknownnoCavin_fam
FGD2Transcription factornoDH_dom, Znf_FYVE, PH_domain
MIR378COther/Unknownno
BASP1P1Other/Unknownno
NECTIN3-AS1Other/UnknownnoDUF4672
GALCEnzyme (other)yes3.2.1.46Glyco_hydro_59, Aldolase_TIM, GH_hydrolase_sf
MIR4445Other/Unknownno

Expression context

Cohort genes with no expression data: 0.

52 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)1
moderate (6-20)3
broad (>20)60
unknown0

Top tissues across cohort

TissueCohort genes
buccal mucosa cell9
primordial germ cell in gonad8
male germ line stem cell (sensu Vertebrata) in testis7
monocyte6
adrenal tissue6
cortical plate5
ganglionic eminence5
left testis4
right testis4
middle temporal gyrus4
corpus callosum4
blood4
granulocyte3
leukocyte3
parotid gland3
Brodmann (1909) area 233
stromal cell of endometrium3
ileal mucosa3
endothelial cell3
right uterine tube3

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
IL27RA133ubiquitousmarkergranulocyte, leukocyte, monocyte
SLC6A2121ubiquitousmarkerplacenta, buccal mucosa cell, decidua
SSTR2186broadmarkerbuccal mucosa cell, ganglionic eminence, cortical plate
TTN223broadmarkerbiceps brachii, gluteal muscle, skeletal muscle tissue of biceps brachii
WWOX286ubiquitousmarkerparotid gland, cervix squamous epithelium, cranial nerve II
ZNF75A251ubiquitousmarkeroviduct epithelium, kidney epithelium, upper arm skin
PRRC2A134ubiquitousmarkerright testis, left testis, ventricular zone
GPANK1133ubiquitousmarkerleft testis, right testis, testis
C6orf1531tissue_specificyesskin of leg, zone of skin, skin of abdomen
PRRT1134broadyesright hemisphere of cerebellum, cerebellar hemisphere, cerebellum
CSMD1179broadmarkerBrodmann (1909) area 23, middle temporal gyrus, primary visual cortex
EHMT2134ubiquitousmarkernucleus accumbens, ganglionic eminence, putamen
PCDH18238ubiquitousmarkerstromal cell of endometrium, calcaneal tendon, parietal pleura
SLC39A11239ubiquitousmarkerbone marrow cell, ileal mucosa, pancreatic ductal cell
PARVA281ubiquitousmarkersmooth muscle tissue, stromal cell of endometrium, colonic epithelium
PCDH15130tissue_specificmarkerleft adrenal gland cortex, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue
GLRX3287ubiquitousmarkerbuccal mucosa cell, islet of Langerhans, adrenal tissue
MACROD2214ubiquitousmarkerendothelial cell, buccal mucosa cell, epithelial cell of pancreas
NIBAN1270ubiquitousmarkerblood vessel layer, saphenous vein, parotid gland
CPQ293ubiquitousmarkerleft lobe of thyroid gland, thyroid gland, right lobe of thyroid gland
SCRG1235broadmarkertibia, lateral globus pallidus, subthalamic nucleus
PSORS1C1124ubiquitousyesleft testis, right testis, testis
MTCH1288ubiquitousmarkerendothelial cell, Brodmann (1909) area 23, middle temporal gyrus
DCPH1285ubiquitousmarkercartilage tissue, endometrium, palpebral conjunctiva
KHDRBS2102broadmarkercortical plate, corpus callosum, male germ line stem cell (sensu Vertebrata) in testis
CEACAM5180broadmarkercolonic mucosa, ileal mucosa, mucosa of sigmoid colon
HSDL2286ubiquitousmarkerheart right ventricle, skeletal muscle tissue of rectus abdominis, biceps brachii
SYF2299ubiquitousmarkercalcaneal tendon, monocyte, mononuclear cell
SLC22A15213ubiquitousmarkercorpus callosum, monocyte, leukocyte
FAM184A229broadmarkercaudate nucleus, adenohypophysis, nucleus accumbens

Protein interactions among cohort

Intra-cohort edges: 12.

Hub genes (top 10 by interactor count)

SymbolInteractor count
WWOX5,892
HSDL25,444
EHMT24,723
TTN4,237
HLA-DRB13,448
CAND13,373
HLA-B3,209
GLRX33,187
CADM12,700
NOTCH42,670

Intra-cohort edges

ABSources
C4orf33KHDRBS2string_interaction
C6orf15FGD2string_interaction
C6orf15PSORS1C1string_interaction
CAND1FGD2biogrid_interaction
FAM184ALRRC61biogrid_interaction, intact
GPANK1PRRC2Astring_interaction
HLA-BPRRC2Astring_interaction
HLA-BPSORS1C1string_interaction
KHDRBS2LGSNstring_interaction
LRRC61MACROD2string_interaction
MACROD2WWOXstring_interaction
PLPPR1RBM46string_interaction

Structural data

PDB: 26 · AlphaFold-only: 31 · No structure: 7

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HLA-BP01889237
HLA-DRB1P01911108
TTNQ8WZ4264
SLC6A2P2397536
EHMT2Q96KQ735
PARVAQ9NVD718
SSTR2P3087417
SYF2O9592617
POU5F1Q0186016
CAND1Q86VP614
HLA-DQB1P0192010
PAPSS1O432529
PCDH15Q96QU18
DLC1Q96QB17
CEACAM5P067316
NPY2RP491465
GLRX3O760034
MACROD2A1Z1Q34
IL27RAQ6UWB13
NOTCH4Q994663
DCPH1Q9H9932
CADM1Q9BY672
WWOXQ9NZC71
CSMD1Q96PZ71
PCDH18Q9HCL01
HSDL2Q6YN161

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
C4orf33Q8N1A695.50
GALCP5480394.56
CPQQ9Y64693.81
TMED3Q9Y3Q388.51
ARSIQ5FYB187.35
LRRC61Q9BV9984.67
SLC22A15Q8IZD682.96
OR2C1O9537182.69
CTNNA3Q9UI4781.65
SCRG1O7571179.80
PLPPR1Q8TBJ479.06
LGSNQ5TDP677.35
FGD2Q7Z6J477.12
SLC39A11Q8N1S576.64
MTCH1Q9NZJ776.29
SLC35F3Q8IY5075.68
FAM184AQ8NB2574.71
ZNF75AQ96N2074.43
RBM46Q8TBY073.43
GPANK1O9587271.48
DKK2Q9UBU270.82
KHDRBS2Q5VWX170.39
NIBAN1Q9BZQ870.11
HAND2P6129667.30
CAVIN4Q5BKX866.21
NECTIN3-AS1Q1RN0057.14
PSORS1C1Q9UIG555.10
PRRT1Q9994653.00
NRG3P5697550.59
C6orf15Q6UXA743.65

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 134. Enrichment computed across 64 evidence-associated genes (33 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 33 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Metabolism of ingested H2SeO4 and H2SeO3 into H2Se186.5×0.166PAPSS1
Localization of the PINCH-ILK-PARVIN complex to focal adhesions186.5×0.166PARVA
Defective SLC6A2 causes orthostatic intolerance (OI)186.5×0.166SLC6A2
Defective LFNG causes SCDO3169.2×0.166NOTCH4
PTK6 Regulates Proteins Involved in RNA Processing169.2×0.166KHDRBS2
Pre-NOTCH Processing in the Endoplasmic Reticulum157.7×0.166NOTCH4
Transport and metabolism of PAPS149.4×0.166PAPSS1
Signaling by LRP5 mutants149.4×0.166DKK2
Nectin/Necl trans heterodimerization143.3×0.166CADM1
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components143.3×0.166PARVA
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation134.6×0.166POU5F1
Negative regulation of activity of TFAP2 (AP-2) family transcription factors134.6×0.166WWOX
Endosomal/Vacuolar pathway131.5×0.166HLA-B
PI3K events in ERBB4 signaling131.5×0.166NRG3
NOTCH4 Activation and Transmission of Signal to the Nucleus131.5×0.166NOTCH4
Interleukin-27 signaling131.5×0.166IL27RA
Formation of the anterior neural plate131.5×0.166POU5F1
Activation of the TFAP2 (AP-2) family of transcription factors128.8×0.166WWOX
Interleukin-35 Signalling128.8×0.166IL27RA
The activation of arylsulfatases126.6×0.166ARSI
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation126.6×0.166POU5F1
Specification of primordial germ cells126.6×0.166POU5F1
ERBB2 Activates PTK6 Signaling124.7×0.166NRG3
Lysosphingolipid and LPA receptors123.1×0.166PLPPR1
SLC-mediated transport of organic cations123.1×0.166SLC22A15
R-HSA-549132123.1×0.166SLC22A15
SHC1 events in ERBB4 signaling121.6×0.166NRG3
Negative regulation of TCF-dependent signaling by WNT ligand antagonists121.6×0.166DKK2
ERBB2 Regulates Cell Motility121.6×0.166NRG3
Nuclear signaling by ERBB4221.0×0.166WWOX, NRG3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 50 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
chemorepulsion involved in interneuron migration from the subpallium to the cortex1337.0×0.069NRG3
negative regulation of nervous system process1337.0×0.069NPY2R
regulation of interleukin-4 production1337.0×0.069HLA-DRB1
phenotypic switching1337.0×0.069EHMT2
cell cycle switching, mitotic to meiotic cell cycle1337.0×0.069RBM46
cell fate commitment involved in formation of primary germ layer1337.0×0.069POU5F1
negative regulation of T cell extravasation1337.0×0.069IL27RA
positive regulation of semaphorin-plexin signaling pathway1337.0×0.069HAND2
sulfate assimilation1168.5×0.069PAPSS1
antigen processing and presentation of endogenous peptide antigen via MHC class II1168.5×0.069HLA-DRB1
endodermal-mesodermal cell signaling1168.5×0.069POU5F1
galactosylceramide catabolic process1168.5×0.069GALC
SCF complex assembly1168.5×0.069CAND1
regulation of interleukin-10 production1168.5×0.069HLA-DRB1
3’-phosphoadenosine 5’-phosphosulfate biosynthetic process1168.5×0.069PAPSS1
detection of stimulus1168.5×0.069CADM1
visceral serous pericardium development1168.5×0.069HAND2
cell proliferation involved in outflow tract morphogenesis1168.5×0.069HAND2
smooth muscle cell chemotaxis1168.5×0.069PARVA
primary palate development1168.5×0.069HAND2
negative regulation of T-helper 17 type immune response1168.5×0.069IL27RA
myeloid dendritic cell antigen processing and presentation1112.3×0.069HLA-DRB1
positive regulation of peptide secretion1112.3×0.069NPY2R
apoptotic process involved in heart morphogenesis1112.3×0.069HAND2
skeletal muscle myosin thick filament assembly1112.3×0.069TTN
oviduct epithelium development1112.3×0.069CSMD1
susceptibility to natural killer cell mediated cytotoxicity1112.3×0.069CADM1
purine nucleoside metabolic process1112.3×0.069MACROD2
neuronal ion channel clustering1112.3×0.069MTCH1
sarcomerogenesis1112.3×0.069TTN

Therapeutics

Drugs indicated for this disease

1 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
TabelecleucelApproved (phase 4)
LenalidomidePhase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 5 · Phase ≥3: 5 · Phased (≥1): 5 · Undrugged: 59

Druggability breadth: 19 of 64 evidence-associated genes (30%) 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
SLC6A2CETIRIZINE
SSTR2LANREOTIDE
EHMT2RALTITREXED
NPY2RECONAZOLE NITRATE
POU5F1FAMOTIDINE

Top cohort targets by molecule count

SymbolMoleculesMax phase
SLC6A24714
SSTR2114
EHMT274
NPY2R54
POU5F114
IL27RA00
TTN00
WWOX00
ZNF75A00
PRRC2A00

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CETIRIZINE4SLC6A2
BEPRIDIL4SLC6A2
CANDESARTAN CILEXETIL4SLC6A2
BEXAROTENE4SLC6A2
CLOTRIMAZOLE4SLC6A2
AMINOCAPROIC ACID4SLC6A2
SIMVASTATIN4SLC6A2
NABUMETONE4SLC6A2
METAXALONE4SLC6A2
ACETOPHENAZINE4SLC6A2
MESORIDAZINE4SLC6A2
PHENELZINE4SLC6A2
NIRAPARIB4SLC6A2
INDACATEROL4SLC6A2
IMIPRAMINE4SLC6A2
EPINASTINE4SLC6A2
RIMONABANT4SLC6A2
ARIPIPRAZOLE4SLC6A2
AMOXAPINE4SLC6A2
IDARUBICIN4SLC6A2
DESVENLAFAXINE4SLC6A2
EZETIMIBE4SLC6A2
PONATINIB4SLC6A2
DESLORATADINE4SLC6A2
RUCAPARIB4SLC6A2
DULOXETINE4SLC6A2
CELECOXIB4SLC6A2
UMECLIDINIUM4SLC6A2
TRIMETREXATE4SLC6A2
PHENIRAMINE4SLC6A2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 6.

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

SymbolAssaysType breakdown
SLC6A2929Binding:885, ADMET:25, Functional:15, Toxicity:3, Unclassified:1
EHMT2442Binding:435, Functional:6, ADMET:1
NPY2R207Binding:158, Functional:48, ADMET:1
SSTR2182Binding:149, Functional:28, ADMET:5
POU5F136Binding:36
HLA-DRB117Binding:17
PCDH159Binding:9
MACROD24Binding:2, Toxicity:2
GALC3Binding:2, Functional:1
NOTCH42Binding:2
TTN1Binding:1
PRRC2A1Binding:1
SLC39A111Binding:1
GLRX31Binding:1
HSDL21Binding:1
CAND11Binding:1
HLA-B1Binding:1
PAPSS11Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
TTN2.7.11.1non-specific serine/threonine protein kinase
EHMT22.1.1.355, 2.1.1.356, 2.1.1.367, 2.1.1.368[histone H3]-lysine9 N-trimethyltransferase, [histone H3]-lysine27 N-trimethyltransferase, [histone H3]-lysine9 N-methyltransferase, [histone H3]-lysine9 N-dimethyltransferase
MACROD23.1.1.106O-acetyl-ADP-ribose deacetylase
PLPPR13.1.3.4phosphatidate phosphatase
GALC3.2.1.46galactosylceramidase
PAPSS12.7.1.25, 2.7.7.4adenylyl-sulfate kinase, sulfate adenylyltransferase

Cohort genes with high screening signal

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

SymbolChEMBL assays
SLC6A2929
SSTR2182
EHMT2442
NPY2R207

Pharmacogenomics

Cohort genes with a PharmGKB record: 57; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

SymbolCPIC guidelines
HLA-B1

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
CETIRIZINE4SLC6A2
BEPRIDIL4SLC6A2
CANDESARTAN CILEXETIL4SLC6A2
BEXAROTENE4SLC6A2
CLOTRIMAZOLE4SLC6A2
AMINOCAPROIC ACID4SLC6A2
SIMVASTATIN4SLC6A2
NABUMETONE4SLC6A2
METAXALONE4SLC6A2
ACETOPHENAZINE4SLC6A2
MESORIDAZINE4SLC6A2
PHENELZINE4SLC6A2
NIRAPARIB4SLC6A2
INDACATEROL4SLC6A2
IMIPRAMINE4SLC6A2
EPINASTINE4SLC6A2
RIMONABANT4SLC6A2
ARIPIPRAZOLE4SLC6A2
AMOXAPINE4SLC6A2
IDARUBICIN4SLC6A2
DESVENLAFAXINE4SLC6A2
EZETIMIBE4SLC6A2
PONATINIB4SLC6A2
DESLORATADINE4SLC6A2
RUCAPARIB4SLC6A2
DULOXETINE4SLC6A2
CELECOXIB4SLC6A2
UMECLIDINIUM4SLC6A2
TRIMETREXATE4SLC6A2
PHENIRAMINE4SLC6A2

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)5SLC6A2, SSTR2, EHMT2, NPY2R, POU5F1
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug10IL27RA, TTN, CSMD1, MACROD2, CEACAM5, HLA-B, HLA-DQB1, HLA-DRB1, CADM1, PAPSS1
DDruggable family + AlphaFold only, no drug6CPQ, SLC22A15, PLPPR1, ARSI, GALC, OR2C1
EDifficult family or no structure, no drug43WWOX, ZNF75A, PRRC2A, GPANK1, C6orf15, PRRT1, PCDH18, SLC39A11, PARVA, PCDH15 (+33 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
IL27RA0—
TTN1—
WWOX0—
ZNF75A0—
PRRC2A1—
GPANK10—
C6orf150—
PRRT10—
CSMD10—
PCDH180—
SLC39A111—
PARVA0—
PCDH159—
GLRX31—
MACROD24—
NIBAN10—
CPQ0—
SCRG10—
PSORS1C10—
MTCH10—
DCPH10—
KHDRBS20—
CEACAM50—
HSDL21—
SYF20—
SLC22A150—
FAM184A0—
LGSN0—
LRRC610—
SLC35F30—

Clinical trials & evidence

Clinical trials

Clinical trials: 72.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified23
PHASE116
PHASE1/PHASE215
PHASE28
PHASE44
PHASE2/PHASE33
PHASE32
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT04308278PHASE4RECRUITINGStudy to Evaluate the Efficacy of 2LEBV® and 2LXFS® on Asthenia in Patients With an Epstein-Barr Virus Infection
NCT04989491PHASE4RECRUITINGEvaluation of the Efficacy of a Treatment by One Single Dose of Rituximab (375mg/m2 ) in the Prevention of the Epstein Barr Virus (EBV) Primary Infection and Post-transplant Lymphoproliferative Disorder in Adult EBV Seronegative Patients Who Received an EBV Seropositive Kidney Allograft
NCT04183738PHASE4WITHDRAWNInflammation and Co-Infections in D²EFT
NCT05039580PHASE4UNKNOWNProgrammed Cell Death Protein-1 (PD-1) Monoclonal Antibody for EBV-HLH and CAEBV as First-line Therapy
NCT02135042PHASE2/PHASE3ACTIVE_NOT_RECRUITINGIndividualized Treatment Treating Patients With Stage II-IVB Nasopharyngeal Cancer Based on EBV DNA
NCT04832607PHASE3RECRUITINGMultivirus-specific T-cell Transfer Post SCT vs AdV, CMV and EBV Infections
NCT04084626PHASE3UNKNOWNPD1 Antibody and Lenalidomide as a Treatment for EBV-HLH or CAEBV
NCT04693637PHASE2/PHASE3COMPLETEDPosoleucel (ALVR105, Formerly Viralym-M) for Multi-Virus Prevention in Patients Post-Allogeneic Hematopoietic Cell Transplant
NCT05305040PHASE2/PHASE3TERMINATEDStudy of Posoleucel (ALVR105,Viralym-M) for Multi-Virus Prevention in Patients Post-Allogeneic Hematopoietic Cell Transplant
NCT03258567PHASE2RECRUITINGNivolumab in Epstein-Barr Virus (EBV)-Positive Lymphoproliferative Disorders and EBV-Positive Non-HodgkinLymphomas
NCT03266653PHASE2RECRUITINGEBV-specific Cytotoxic T-lymphocytes (CTLs) for Refractory EBV Infection
NCT03475212PHASE1/PHASE2ACTIVE_NOT_RECRUITINGAntiviral Cellular Therapy for Enhancing T-cell Reconstitution Before or After Hematopoietic Stem Cell Transplantation
NCT05164094PHASE1/PHASE2ACTIVE_NOT_RECRUITINGA Study of an Epstein-Barr Virus (EBV) Candidate Vaccine, mRNA-1189, in 10- to 30-Year-Old Healthy Adolescents and Adults
NCT05592626PHASE1/PHASE2RECRUITINGA Study of a Selective T Cell Receptor (TCR) Targeting, Bifunctional Antibody-fusion Molecule STAR0602 in Participants With Advanced Solid Tumors
NCT06027879PHASE1/PHASE2ENROLLING_BY_INVITATIONAnti-viral T-cell Therapy by Gamma Capture
NCT06909110PHASE1/PHASE2RECRUITINGViral Specific T-Lymphocytes to Treat Infection With Adenovirus, Cytomegalovirus or Epstein-Barr Virus in Patients With Compromised Immunity
NCT07133776PHASE1/PHASE2NOT_YET_RECRUITINGApplication of PD-1 Inhibitors Combined With Tenofovir, Chidamide and Lenalidomide in the Treatment of EBV-associated Diseases.
NCT07261215PHASE2NOT_YET_RECRUITINGZuberitamab for EBV Infection Post-Allo-HSCT
NCT07368153PHASE2NOT_YET_RECRUITINGSafety and Tolerability of IDO-1 Inhibition in the Prevention of EBV-related Pathology in EBV Negative Kidney Transplant Recipients Receiving an Organ From EBV Positive Donors
NCT07368634PHASE1/PHASE2RECRUITINGExploratory Study of EBV-TCR-T Cell Injection for EBV DNAemia After Allogeneic Hematopoietic Stem Cell Transplantation
NCT00430534PHASE2COMPLETEDEvaluation of Safety, Immune-Response and Efficacy of GSK Biologicals’ EBV (Epstein Barr Virus) Vaccine (268664).
NCT00711035PHASE1/PHASE2COMPLETEDMost Closely HLA Matched Allogeneic Virus Specific Cytotoxic T-Lymphocytes (CTL)
NCT01058239PHASE2COMPLETEDBortezomib Plus Rituximab for EBV+ PTLD
NCT01094405PHASE2COMPLETEDEfficacy of Recombinant Epstein-Barr Virus (EBV) Vaccine in Patients With Nasopharyngeal Cancer Who Had Residual EBV DNA Load After Conventional Therapy
NCT01805037PHASE1/PHASE2TERMINATEDBrentuximab Vedotin + Rituximab as Frontline Therapy for Pts w/ CD30+ and/or EBV+ Lymphomas
NCT01972035PHASE2COMPLETEDValGanciclovir Versus ValAcyclovir for Viral Prophylaxis in Kidney Transplantation
NCT02580539PHASE1/PHASE2COMPLETEDA Study of the Safety and Efficacy of EBV Specific T-cell Lines
NCT03159364PHASE1/PHASE2UNKNOWNAntigen-specific Cytotoxic T Cells in the Treatment of Opportunistic Infections
NCT03769467PHASE1/PHASE2TERMINATEDTabelecleucel in Combination With Pembrolizumab in Subjects With Epstein-Barr Virus-associated Nasopharyngeal Carcinoma (EBV+ NPC)
NCT04507477PHASE1/PHASE2UNKNOWNEx-vivo Delivery of Rituximab to Prevent PTLD in EBV Mismatch Lung Transplant Recipients: A Pilot Trial
NCT05683834PHASE1/PHASE2COMPLETEDTrial Evaluating the Immunogenicity and Safety of an Adjuvanted Epstein-Barr Virus (EBV) Glycoprotein 350 Vaccine in EBV-seronegative Persons
NCT06075927PHASE1/PHASE2UNKNOWNMultivirus-specific T Cells in the Treatment of Refractory CMV and/or EBV Infection After Allo-HSCT
NCT01494103PHASE1ACTIVE_NOT_RECRUITINGAdministration of Donor T Cells With the Caspase-9 Suicide Gene
NCT04645147PHASE1ACTIVE_NOT_RECRUITINGSafety and Immunogenicity of an Epstein-Barr Virus (EBV) gp350-Ferritin Nanoparticle Vaccine in Healthy Adults With or Without EBV Infection
NCT05183490PHASE1RECRUITINGR-MVST Cells for Treatment of Viral Infections
NCT05831111PHASE1ACTIVE_NOT_RECRUITINGA Study of an Epstein-Barr Virus (EBV) Candidate Vaccine, mRNA-1195, in 18- to 55-Year-Old Healthy Participants
NCT06135922PHASE1RECRUITINGClinical Study of EBV-TCR-T Cells for EBV-associated Hemophagocytic Lymphohistiocytosis or EBV Infection
NCT06789159PHASE1RECRUITINGA Phase Ib Study of VK-2019 in Patients With Relapsed or Refractory EBV+ Diffuse Large B-cell Lymphomas (DLBCL)
NCT06908096PHASE1RECRUITINGEpstein-Barr Virus (EBV) gH/gL/gp42-Ferritin Nanoparticle Vaccine With or Without gp350-Ferritin in Healthy Adults With or Without EBV Infection
NCT07614282PHASE1NOT_YET_RECRUITINGRituximab for PTLD Prevention in Solid Organ Transplant Recipients With EBV DNAemia

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
DARUNAVIR43
VALGANCICLOVIR42
BRENTUXIMAB VEDOTIN41
DOLUTEGRAVIR41
GEMCITABINE HYDROCHLORIDE41
RITONAVIR41
RITUXIMAB41
TABELECLEUCEL41
VALACYCLOVIR41
POSOLEUCEL32
MATRIX-M1 ADJUVANT31
RIMIDUCID21
CHEMBL474192001

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 70

This page pulls from 70 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot