◎ Sugi Atlas

Atlas / Disease / Chemotherapy-induced alopecia

Chemotherapy-induced alopecia

disease
On this page

Summary

Chemotherapy-induced alopecia (MONDO:0005483) is a disease with 24 cohort genes (31 GWAS associations across 7 studies) and 19 clinical trials. Top therapeutic interventions include eribulin, minoxidil, and sacituzumab govitecan.

At a glance

  • Cohort genes: 24
  • GWAS associations: 31
  • Clinical trials: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namechemotherapy-induced alopecia
Mondo IDMONDO:0005483
EFOEFO:0005400
NCITC164162
UMLSC5236021
MedGen1720394
GARD0024192
Anatomy (UBERON)UBERON:0000033
Is cancer (heuristic)no

Data availability: 31 GWAS associations (7 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hair anomaly › alopecia › chemotherapy-induced alopecia

Related subtypes (25): alopecia, isolated, telogen effluvium, alopecia areata, alopecia mucinosa, atrichia with papular lesions, loose anagen syndrome, Satoyoshi syndrome, alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome, hereditary hypotrichosis with recurrent skin vesicles, alopecia antibody deficiency, pseudopelade of Brocq, frontal fibrosing alopecia, Quinquaud’s folliculitis decalvans, Graham Little-Piccardi-Lassueur syndrome, lichen planopilaris, hypotrichosis simplex, alopecia totalis, hypotrichosis simplex of the scalp, endocrine alopecia, alopecia universalis onychodystrophy vitiligo, central centrifugal cicatricial alopecia, ectodermal dysplasia alopecia preaxial polydactyly, Slti-Salem syndrome, microcephaly sparse hair intellectual disability seizures, alopecia universalis

Genetics & variants

GWAS landscape

31 GWAS associations across 7 studies. Top hits map to 15 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs38207062e-09CACNB4 - STAM2G2.38
rs168307283e-08STAM2T3.61
rs12021794e-08ABCB1C4.05
rs110596352e-07TMEM132CG6.63
rs74764223e-07PCDH15G2.06
rs38444124e-07MPHOSPH6-DT - CDH13A5.22
rs5942066e-07BCL9A36.3
rs1638186e-07DNAH5 - TRIOC11.5
rs42629067e-07MIR548AP - LINC01584C4.36
rs38859071e-06ALOX5APG2.66
rs6988131e-06CAMKMTC4.27
rs28380881e-06PCSEAT - LINC00111A4.48
rs18582312e-06ZNF462C2.71
rs18703232e-06ME3T2.92
rs6722032e-06CTHA5.33
rs64756002e-06SMARCA2 - RN7SL592PC7.78
rs68456212e-06LCORL - LINC02438C5.53
rs108188942e-06DENND1A - LHX2G10.4
rs42342843e-06PRR23E2P - RNU6-1047PT3.01
rs101124814e-06CSMD1 - SNORA70A5.12
rs44742585e-06SLC44A3-AS1A1.89
rs24710425e-06LINC02059 - MIR4280HGT2.51
rs112556155e-06LINC00708G2.4
rs70892277e-06PRPF18G1.99
rs6376447e-06LINC01924 - LINC01916G32.5
rs61176157e-06SLC52A3 - FAM110AC3.89
rs116444248e-06CDH13T3.32
rs14933549e-06LINC02059 - MIR4280HGT2.37
rs20322249e-06SERPINB5 - SERPINB12A2.16
rs104432159e-06LINC01755C9.39

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST002181Chung S20133030A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST002177Chung S20131190A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST002176Chung S20131160A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST002178Chung S2013640A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST002180Chung S2013620A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST002179Chung S2013570A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
GCST011316Nunez-Torres R2020510Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory1
Tier 4: intronic/intergenic29

MAF distribution

BucketVariants
common (>=0.05)28
low_freq (0.01-0.05)2
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant21
intergenic_variant8
regulatory_region_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs38207062152100897T>C0.43intron_variantCACNB4 - STAM22e-09Tier 4: intronic/intergenic
rs168307282152124821G>C,T0.41intron_variantSTAM23e-08Tier 4: intronic/intergenic
rs1202179787574963C>A,T0.05intron_variantABCB14e-08Tier 4: intronic/intergenic
rs1105963512128297477C>G,T0.33intron_variantTMEM132C2e-07Tier 4: intronic/intergenic
rs74764221054444531G>A,T0.18intron_variantPCDH153e-07Tier 4: intronic/intergenic
rs38444121682612728A>C,G,T0.11intergenic_variantMPHOSPH6-DT - CDH134e-07Tier 4: intronic/intergenic
rs5942061147548685A>C,G,T0.22intron_variantBCL96e-07Tier 4: intronic/intergenic
rs163818514071948T>C0.02intergenic_variantDNAH5 - TRIO6e-07Tier 4: intronic/intergenic
rs42629061585919621T>A,C0.31intergenic_variantMIR548AP - LINC015847e-07Tier 4: intronic/intergenic
rs38859071330740318C>A,G,T0.18intron_variantALOX5AP1e-06Tier 4: intronic/intergenic
rs698813244478476A>C,G,T0.48intron_variantCAMKMT1e-06Tier 4: intronic/intergenic
rs28380882141672041C>G,T0.12intergenic_variantPCSEAT - LINC001111e-06Tier 4: intronic/intergenic
rs18582319106914612A>C,G,T0.22intron_variantZNF4622e-06Tier 4: intronic/intergenic
rs18703231186477110A>C,G,T0.36intron_variantME32e-06Tier 4: intronic/intergenic
rs672203170421416A>C,G,T0.48intron_variantCTH2e-06Tier 4: intronic/intergenic
rs647560092203938C>T0.37intron_variantSMARCA2 - RN7SL592P2e-06Tier 4: intronic/intergenic
rs6845621418864546G>A0.2intron_variantLCORL - LINC024382e-06Tier 4: intronic/intergenic
rs108188949123933491G>A0.3regulatory_region_variantDENND1A - LHX22e-06Tier 3: regulatory
rs42342843127231283G>A,C0.23intron_variantPRR23E2P - RNU6-1047P3e-06Tier 4: intronic/intergenic
rs1011248185017650G>C,T0.22intergenic_variantCSMD1 - SNORA704e-06Tier 4: intronic/intergenic
rs4474258194615889C>T0.43intron_variantSLC44A3-AS15e-06Tier 4: intronic/intergenic
rs2471042586881956A>G,T0.21intron_variantLINC02059 - MIR4280HG5e-06Tier 4: intronic/intergenic
rs11255615108282926T>A,C0.38intron_variantLINC007085e-06Tier 4: intronic/intergenic
rs70892271013625731G>A,T0.41intron_variantPRPF187e-06Tier 4: intronic/intergenic
rs6376441865231430A>C,G,T0.2intergenic_variantLINC01924 - LINC019167e-06Tier 4: intronic/intergenic
rs611761520778672A>G,T0.24intergenic_variantSLC52A3 - FAM110A7e-06Tier 4: intronic/intergenic
rs116444241683292454C>A,G,T0.44intron_variantCDH138e-06Tier 4: intronic/intergenic
rs1493354586878330A>C,G,T0.22intron_variantLINC02059 - MIR4280HG9e-06Tier 4: intronic/intergenic
rs20322241863509033C>A,G,T0.38intergenic_variantSERPINB5 - SERPINB129e-06Tier 4: intronic/intergenic
rs10443215155647101C>A,G,T0.04intron_variantLINC017559e-06Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 13 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
SMARCA2Orphanet:3051Nicolaides-Baraitser syndrome
SMARCA2Orphanet:637013SMARCA2-related blepharophimosis-intellectual disability syndrome
TRIOOrphanet:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
CACNB4Orphanet:211067Episodic ataxia type 5
CACNB4Orphanet:307Juvenile myoclonic epilepsy
PCDH15Orphanet:231169Usher syndrome type 1
PCDH15Orphanet:90636Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
SLC52A3Orphanet:572550RFVT3-related riboflavin transporter deficiency
ZNF462Orphanet:502430Weiss-Kruszka Syndrome
CTHOrphanet:212Cystathioninuria
CAMKMTOrphanet:1636932p21 microdeletion syndrome
CAMKMTOrphanet:238523Atypical hypotonia-cystinuria syndrome
CAMKMTOrphanet:3698812p21 microdeletion syndrome without cystinuria

Cohort genes → proteins

24 cohort genes, 22 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only24

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
BCL9HGNC:1008ENSG00000116128O00512B-cell CLL/lymphoma 9 proteingwas
SMARCA2HGNC:11098ENSG00000080503P51531SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2gwas
STAM2HGNC:11358ENSG00000115145O75886Signal transducing adapter molecule 2gwas
TRIOHGNC:12303ENSG00000038382O75962Triple functional domain proteingwas
LINC00111HGNC:1262ENSG00000227702long intergenic non-protein coding RNA 111gwas
CACNB4HGNC:1404ENSG00000182389O00305Voltage-dependent L-type calcium channel subunit beta-4gwas
PCDH15HGNC:14674ENSG00000150275Q96QU1Protocadherin-15gwas
SLC52A3HGNC:16187ENSG00000101276Q9NQ40Solute carrier family 52, riboflavin transporter, member 3gwas
PRPF18HGNC:17351ENSG00000165630Q99633Pre-mRNA-splicing factor 18gwas
CDH13HGNC:1753ENSG00000140945P55290Cadherin-13gwas
CDH19HGNC:1758ENSG00000071991Q9H159Cadherin-19gwas
ZNF462HGNC:21684ENSG00000148143Q96JM2Zinc finger protein 462gwas
CTHHGNC:2501ENSG00000116761P32929Cystathionine gamma-lyasegwas
TMEM132CHGNC:25436ENSG00000181234Q8N3T6Transmembrane protein 132Cgwas
KLHL25HGNC:25732ENSG00000183655Q9H0H3Kelch-like protein 25gwas
CAMKMTHGNC:26276ENSG00000143919Q7Z624Calmodulin-lysine N-methyltransferasegwas
DENND1AHGNC:29324ENSG00000119522Q8TEH3DENN domain-containing protein 1Agwas
LCORLHGNC:30776ENSG00000178177Q8N3X6Ligand-dependent nuclear receptor corepressor-like proteingwas
PRR23EHGNC:32481ENSG00000214324Q8N813Proline-rich protein 23Egwas
RPL10AP9HGNC:35947ribosomal protein L10a pseudogene 9gwas
ABCB1HGNC:40ENSG00000085563P08183ATP-dependent translocase ABCB1gwas
ALOX5APHGNC:436ENSG00000132965P20292Arachidonate 5-lipoxygenase-activating proteingwas
ME3HGNC:6985ENSG00000151376Q16798NADP-dependent malic enzyme, mitochondrialgwas
SERPINB5HGNC:8949ENSG00000206075P36952Serpin B5gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
BCL9B-cell CLL/lymphoma 9 proteinInvolved in signal transduction through the Wnt pathway.
SMARCA2SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
STAM2Signal transducing adapter molecule 2Involved in intracellular signal transduction mediated by cytokines and growth factors.
TRIOTriple functional domain proteinGuanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases.
CACNB4Voltage-dependent L-type calcium channel subunit beta-4The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition…
PCDH15Protocadherin-15Calcium-dependent cell-adhesion protein.
SLC52A3Solute carrier family 52, riboflavin transporter, member 3Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism.
PRPF18Pre-mRNA-splicing factor 18Participates in the second step of pre-mRNA splicing.
CDH13Cadherin-13Cadherins are calcium-dependent cell adhesion proteins.
CDH19Cadherin-19Cadherins are calcium-dependent cell adhesion proteins.
ZNF462Zinc finger protein 462Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization.
CTHCystathionine gamma-lyaseCatalyzes the last step in the trans-sulfuration pathway from L-methionine to L-cysteine in a pyridoxal-5’-phosphate (PLP)-dependent manner, which consists on cleaving the L,L-cystathionine molecule into L-cysteine, ammonia and 2-oxobutano…
KLHL25Kelch-like protein 25Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex involved in various processes, such as translation homeostasis and lipid synthesis.
CAMKMTCalmodulin-lysine N-methyltransferaseCatalyzes the trimethylation of ‘Lys-116’ in calmodulin.
DENND1ADENN domain-containing protein 1AGuanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation.
LCORLLigand-dependent nuclear receptor corepressor-like proteinMay act as transcription activator that binds DNA elements with the sequence 5’-CCCTATCGATCGATCTCTACCT-3’.
ABCB1ATP-dependent translocase ABCB1Translocates drugs and phospholipids across the membrane.
ALOX5APArachidonate 5-lipoxygenase-activating proteinRequired for leukotriene biosynthesis by ALOX5 (5-lipoxygenase).
ME3NADP-dependent malic enzyme, mitochondrialCatalyzes the oxidative decarboxylation of (S)-malate to pyruvate using NADP(+) as a cofactor.
SERPINB5Serpin B5Tumor suppressor.

Protein-family classification

Druggable: 4 · Difficult: 5 · Unknown: 15 · Druggable fraction: 0.17

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
Transporter13.2×0.606
Scaffold/PPI21.4×0.606
Kinase11.2×0.606
Other/Unknown151.1×0.606
Transcription factor31.0×0.606
Enzyme (other)21.0×0.606

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
BCL9Transcription factornoZnf_RING/FYVE/PHD, Bcl-9/Bcl-9l, BCL9_beta-catenin-bd_dom
SMARCA2Other/UnknownnoSNF2_N, Bromodomain, Helicase_C-like
STAM2Scaffold/PPInoSH3_domain, VHS_dom, UIM_dom
TRIOKinaseyesDH_dom, Prot_kinase_dom, CRAL-TRIO_dom
LINC00111Other/Unknownno
CACNB4Scaffold/PPInoVDCC_L_bsu, SH3_domain, GK/Ca_channel_bsu
PCDH15Other/UnknownnoCadherin-like_dom, Cadherin-like_sf, Cadherin_CS
SLC52A3Other/UnknownnoRiboflavin_transptr
PRPF18Other/UnknownnoPrp18, PRP4-like, PRP4-like_sf
CDH13Other/UnknownnoCadherin-like_dom, Cadherin_pro_dom, Cadherin-like_sf
CDH19Other/UnknownnoCadherin_Y-type_LIR, Cadherin-like_dom, Cadherin-like_sf
ZNF462Transcription factornoZnf_C2H2_type, Znf_C2H2_sf, Zinc_finger/UBP_domain
CTHEnzyme (other)yes4.4.1.1Cys/Met-Metab_PyrdxlP-dep_enz, PyrdxlP-dep_Trfase_major, PyrdxlP-dep_Trfase_small
TMEM132COther/UnknownnoTMEM132, TMEM132_N, TMEM132_C
KLHL25Other/UnknownnoBTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
CAMKMTEnzyme (other)yes2.1.1.60Methyltransf_16, CaM-Lys-N-MeTrfase, SAM-dependent_MTases_sf
DENND1AOther/UnknownnocDENN_dom, dDENN_dom, uDENN_dom
LCORLTranscription factornoHTH_Psq, Homeodomain-like_sf
PRR23EOther/Unknownno
RPL10AP9Other/Unknownno
ABCB1Transporteryes7.6.2.2ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC1_TM_dom
ALOX5APOther/UnknownnoMembr-assoc_MAPEG, 5_LipOase_AP, FLAP/GST2/LTC4S_CS
ME3Other/UnknownnoMalic_OxRdtase, Malic_N_dom, Malic_NAD-bd
SERPINB5Other/UnknownnoSerpin_fam, Serpin_B9/Maspin, Serpin_CS

Expression context

Cohort genes with no expression data: 1.

20 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)1
broad (>20)22
unknown1

Top tissues across cohort

TissueCohort genes
cortical plate4
calcaneal tendon3
buccal mucosa cell3
ganglionic eminence2
ventricular zone2
sural nerve2
cerebellar vermis2
left adrenal gland cortex2
male germ line stem cell (sensu Vertebrata) in testis2
left testis2
corpus callosum2
colonic epithelium1
mucosa of paranasal sinus1
tendon of biceps brachii1
stromal cell of endometrium1
caudate nucleus1
quadriceps femoris1
lateral nuclear group of thalamus1
primary visual cortex1
adrenal tissue1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
BCL9198ubiquitousmarkercortical plate, ganglionic eminence, ventricular zone
SMARCA2301ubiquitousmarkercalcaneal tendon, colonic epithelium, cortical plate
STAM2281ubiquitousmarkertendon of biceps brachii, calcaneal tendon, mucosa of paranasal sinus
TRIO279ubiquitousmarkersural nerve, cortical plate, stromal cell of endometrium
LINC0011156yescaudate nucleus, quadriceps femoris, cerebellar vermis
CACNB4201broadmarkercerebellar vermis, lateral nuclear group of thalamus, primary visual cortex
PCDH15130tissue_specificmarkerleft adrenal gland cortex, male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue
SLC52A3169broadmarkerright testis, mucosa of transverse colon, left testis
PRPF18134ubiquitousmarkercalcaneal tendon, corpus callosum, sural nerve
CDH13152ubiquitousmarkerdescending thoracic aorta, right coronary artery, thoracic aorta
CDH19240broadmarkertrigeminal ganglion, dorsal root ganglion, olfactory bulb
ZNF462258ubiquitousmarkerbuccal mucosa cell, oviduct epithelium, corpus callosum
CTH243ubiquitousmarkerright lobe of liver, liver, pigmented layer of retina
TMEM132C199broadmarkerdecidua, buccal mucosa cell, upper arm skin
KLHL25182ubiquitousyesventricular zone, ganglionic eminence, cortical plate
CAMKMT223ubiquitousmarkernucleus accumbens, left testis, male germ line stem cell (sensu Vertebrata) in testis
DENND1A213ubiquitousmarkermonocyte, leukocyte, bone marrow cell
LCORL245ubiquitousmarkerbuccal mucosa cell, endothelial cell, sperm
PRR23E16yesoocyte, secondary oocyte, primordial germ cell in gonad
RPL10AP9
ABCB1232broadmarkerright adrenal gland, right adrenal gland cortex, left adrenal gland cortex
ALOX5AP249broadmarkerblood, trabecular bone tissue, bone marrow
ME3259ubiquitousmarkerapex of heart, left ovary, adenohypophysis
SERPINB5156broadmarkerskin of abdomen, skin of leg, lower esophagus mucosa

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
ABCB14,426
SMARCA24,237
CTH2,987
TRIO2,892
STAM22,265
CDH132,132
SERPINB52,132
PCDH151,732
ALOX5AP1,670
ME31,562

Intra-cohort edges

ABSources
CDH19PCDH15string_interaction

Structural data

PDB: 17 · AlphaFold-only: 5 · No structure: 2

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
SMARCA2P5153132
ABCB1P0818324
CTHP329299
BCL9O005128
PCDH15Q96QU18
STAM2O758865
ME3Q167985
TRIOO759624
ALOX5APP202924
SERPINB5P369524
CACNB4O003051
SLC52A3Q9NQ401
PRPF18Q996331
CDH13P552901
ZNF462Q96JM21
CAMKMTQ7Z6241
DENND1AQ8TEH31

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
KLHL25Q9H0H388.89
CDH19Q9H15978.14
TMEM132CQ8N3T669.84
LCORLQ8N3X658.40
PRR23EQ8N81347.19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 106. Enrichment computed across 24 evidence-associated genes (17 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 17 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Cysteine formation from homocysteine1335.9×0.094CTH
Abacavir transmembrane transport1134.3×0.094ABCB1
Biosynthesis of Lipoxins (LX)1112.0×0.094ALOX5AP
Biosynthesis of specialized proresolving mediators (SPMs)1112.0×0.094ALOX5AP
Vitamin B2 (riboflavin) metabolism196.0×0.094SLC52A3
Abacavir ADME184.0×0.094ABCB1
Metabolism of ingested SeMet, Sec, MeSec into H2Se184.0×0.094CTH
Atorvastatin ADME184.0×0.094ABCB1
Regulation of CDH19 Expression and Function184.0×0.094CDH19
Synthesis of 5-eicosatetraenoic acids174.6×0.094ALOX5AP
Prednisone ADME174.6×0.094ABCB1
Adherens junctions interactions229.2×0.094CDH13, CDH19
Cell-cell junction organization229.2×0.094CDH13, CDH19
Cell junction organization222.0×0.094CDH13, CDH19
Cell-Cell communication216.2×0.094CDH13, CDH19
Listeria monocytogenes entry into host cells161.1×0.104STAM2
Presynaptic depolarization and calcium channel opening156.0×0.104CACNB4
Degradation of cysteine and homocysteine156.0×0.104CTH
InlB-mediated entry of Listeria monocytogenes into host cell144.8×0.108STAM2
DCC mediated attractive signaling142.0×0.108TRIO
Protein methylation139.5×0.108CAMKMT
Regulation of Homotypic Cell-Cell Adhesion139.5×0.108CDH19
Regulation of Expression and Function of Type II Classical Cadherins139.5×0.108CDH19
Formation of the non-canonical BAF (ncBAF) complex139.5×0.108SMARCA2
Formation of the canonical BAF (cBAF) complex137.3×0.108SMARCA2
Formation of the polybromo-BAF (pBAF) complex137.3×0.108SMARCA2
Synthesis of Leukotrienes (LT) and Eoxins (EX)133.6×0.111ALOX5AP
Arachidonate metabolism133.6×0.111ALOX5AP
Negative regulation of MET activity130.5×0.118STAM2
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)126.9×0.129SMARCA2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 20 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine1842.6×0.016CTH
daunorubicin transport1842.6×0.016ABCB1
protein sulfhydration1842.6×0.016CTH
terpenoid transport1842.6×0.016ABCB1
cellular response to nonylphenol1842.6×0.016ABCB1
positive regulation of establishment of Sertoli cell barrier1842.6×0.016ABCB1
cellular response to borneol1842.6×0.016ABCB1
response to codeine1842.6×0.016ABCB1
positive regulation of response to drug1842.6×0.016ABCB1
generation of catalytic spliceosome for second transesterification step1421.3×0.016PRPF18
leukotriene production involved in inflammatory response1421.3×0.016ALOX5AP
hormone transport1421.3×0.016ABCB1
obsolete L-cysteine biosynthetic process via L-cystathionine1421.3×0.016CTH
cellular response to mycotoxin1421.3×0.016ABCB1
prostate gland morphogenesis1421.3×0.016SERPINB5
cellular response to external biotic stimulus1421.3×0.016ABCB1
flavin adenine dinucleotide biosynthetic process1421.3×0.016SLC52A3
response to antineoplastic agent1421.3×0.016ABCB1
ceramide translocation1421.3×0.016ABCB1
regulation of intestinal absorption1421.3×0.016ABCB1
positive regulation of aortic smooth muscle cell differentiation1421.3×0.016CTH
response to quercetin1421.3×0.016ABCB1
response to cyclosporin A1421.3×0.016ABCB1
adherens junction organization251.1×0.016CDH13, CDH19
calcium-dependent cell-cell adhesion248.1×0.016CDH13, CDH19
cell-cell junction assembly244.4×0.016CDH13, CDH19
cell-cell adhesion mediated by cadherin241.1×0.016CDH13, CDH19
homophilic cell-cell adhesion321.1×0.016PCDH15, CDH13, CDH19
L-cysteine biosynthetic process1280.9×0.021CTH
localization within membrane1280.9×0.021CDH13

Therapeutics

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 18

Druggability breadth: 9 of 24 evidence-associated genes (38%) 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
CACNB4NIMODIPINE
CTHNITROXOLINE
ABCB1PROGESTERONE
ALOX5APACETAMINOPHEN

Top cohort targets by molecule count

SymbolMoleculesMax phase
ABCB11194
ALOX5AP54
SMARCA222
CACNB424
BCL913
CTH14
STAM200
TRIO00
LINC0011100
PCDH1500

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
NIMODIPINE4CACNB4
TACRINE4CACNB4
NITROXOLINE4CTH
PROGESTERONE4ABCB1
CLOTRIMAZOLE4ABCB1
SIMVASTATIN4ABCB1
ARIPIPRAZOLE4ABCB1
SAQUINAVIR4ABCB1
ATAZANAVIR4ABCB1
DESLORATADINE4ABCB1
SERTINDOLE4ABCB1
CLOFAZIMINE4ABCB1
QUINIDINE4ABCB1
DARUNAVIR4ABCB1
SPIRONOLACTONE4ABCB1
PIMOZIDE4ABCB1
FELODIPINE4ABCB1
NICARDIPINE4ABCB1
AMLODIPINE4ABCB1
PANTOPRAZOLE4ABCB1
OMEPRAZOLE4ABCB1
KETOCONAZOLE4ABCB1
VINBLASTINE4ABCB1
CYCLOSPORINE4ABCB1
RITONAVIR4ABCB1
QUININE4ABCB1
TERFENADINE4ABCB1
NISOLDIPINE4ABCB1
CLARITHROMYCIN4ABCB1
DAUNORUBICIN4ABCB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

SymbolAssaysType breakdown
ABCB13,063Binding:2135, Functional:746, ADMET:182
SMARCA2311Binding:274, Functional:25, ADMET:12
BCL9125Binding:125
ALOX5AP116Binding:111, Functional:5
CTH31Binding:31
CACNB413Binding:13
ME313Binding:13
PCDH159Binding:9
TRIO2Binding:2

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CTH4.4.1.1cystathionine gamma-lyase
CAMKMT2.1.1.60calmodulin-lysine N-methyltransferase
ABCB17.6.2.2, 7.6.2.3ABC-type xenobiotic transporter, ABC-type glutathione-S-conjugate transporter

Cohort genes with high screening signal

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

SymbolChEMBL assays
BCL9125
SMARCA2311
ABCB13,063
ALOX5AP116

Pharmacogenomics

Cohort genes with a PharmGKB record: 23; with CPIC/DPWG dosing guidelines: 0.

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

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)
NIMODIPINE4CACNB4
TACRINE4CACNB4
NITROXOLINE4CTH
PROGESTERONE4ABCB1
CLOTRIMAZOLE4ABCB1
SIMVASTATIN4ABCB1
ARIPIPRAZOLE4ABCB1
SAQUINAVIR4ABCB1
ATAZANAVIR4ABCB1
DESLORATADINE4ABCB1
SERTINDOLE4ABCB1
CLOFAZIMINE4ABCB1
QUINIDINE4ABCB1
DARUNAVIR4ABCB1
SPIRONOLACTONE4ABCB1
PIMOZIDE4ABCB1
FELODIPINE4ABCB1
NICARDIPINE4ABCB1
AMLODIPINE4ABCB1
PANTOPRAZOLE4ABCB1
OMEPRAZOLE4ABCB1
KETOCONAZOLE4ABCB1
VINBLASTINE4ABCB1
CYCLOSPORINE4ABCB1
RITONAVIR4ABCB1
QUININE4ABCB1
TERFENADINE4ABCB1
NISOLDIPINE4ABCB1
CLARITHROMYCIN4ABCB1
DAUNORUBICIN4ABCB1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)4CACNB4, CTH, ABCB1, ALOX5AP
BPhased (≥1) drug, not yet approved2BCL9, SMARCA2
CDruggable family + PDB, no drug2TRIO, CAMKMT
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug16STAM2, LINC00111, PCDH15, SLC52A3, PRPF18, CDH13, CDH19, ZNF462, TMEM132C, KLHL25 (+6 more)

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
STAM20—
TRIO2—
LINC001110—
PCDH159—
SLC52A30—
PRPF180—
CDH130—
CDH190—
ZNF4620—
TMEM132C0—
KLHL250—
CAMKMT0—
DENND1A0—
LCORL0—
PRR23E0—
RPL10AP90—
ME313—
SERPINB50—

Clinical trials & evidence

Clinical trials

Clinical trials: 19.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified12
PHASE22
EARLY_PHASE12
PHASE31
PHASE1/PHASE21
PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT06762548PHASE3NOT_YET_RECRUITINGClinical Study of DA-007 for the Treatment of Chemotherapy Induced Alopecia
NCT04986579PHASE2RECRUITINGScalp Cooling in MBC
NCT07397325PHASE1/PHASE2NOT_YET_RECRUITINGClinical Study of DA-020 for the Treatment of Chemotherapy Induced Alopecia
NCT07594678PHASE2NOT_YET_RECRUITINGMinoxidil With or Without Low-Level Red-Light Therapy for Improving Chemotherapy-Induced Alopecia in Breast Cancer Patients
NCT01588522PHASE1COMPLETEDCompound 31543 (Calcitriol, USP) in Patients Receiving Taxane-based Chemotherapy Regimens for the Treatment of Chemotherapy-Induced Alopecia
NCT07033845EARLY_PHASE1RECRUITINGPharmacokinetic Study of Topical Phenylephrine
NCT07402330EARLY_PHASE1NOT_YET_RECRUITINGPharmacokinetic Study of DA-020
NCT05177289Not specifiedRECRUITINGPhotobiomodulation Therapy in the Prevention and Management of Chemotherapy-Induced Alopecia
NCT05484973Not specifiedRECRUITINGStudy to Assess the Ability of the Portable Scalp Cooling System (PSCS) to Prevent Hair Loss
NCT06011525Not specifiedRECRUITINGPrevention of Alopecia in Patients With Localised Breast Cancer
NCT06215469Not specifiedACTIVE_NOT_RECRUITINGPortable Scalp Cooling System (PSCS) to Prevent Hair Loss for Breast Cancer Patients (Cooler Heads)
NCT06786078Not specifiedRECRUITINGThe Lily Device Trial
NCT07201389Not specifiedACTIVE_NOT_RECRUITINGCARE (Chemotherapy Alopecia REduction)
NCT02797223Not specifiedUNKNOWNImpact of Chemotherapy-induced Alopecia on the Quality of Life of Women With Breast Cancer
NCT03712696Not specifiedCOMPLETEDEfficacy and Safety of DIGNICAP™ System
NCT04036994Not specifiedUNKNOWNPBMT for the Management of CIA ( HAIRLASER )
NCT05365243Not specifiedWITHDRAWNA Pilot Study to Evaluate the Use of the AMMA Portable Scalp Cooling System From Cooler Heads
NCT05397457Not specifiedCOMPLETEDEffect of Helmet Type, Home-use Low-level Light Therapy Device for Chemotherapy-induced Alopecia
NCT06020586Not specifiedUNKNOWNStudy To Evaluate The Efficacy And Safety Profile of ECOHAIR in Chemo-induced Alopecia.

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ERIBULIN41
MINOXIDIL41
SACITUZUMAB GOVITECAN41
TRASTUZUMAB DERUXTECAN41
CHEMBL123721001
CHEMBL377054801
CHEMBL60958701

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 71

This page pulls from 71 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot