Basal cell carcinoma, susceptibility to, 1
diseaseOn this page
Also known as basal cell carcinoma, somaticBCC1multiple basal cell carcinoma
Summary
Basal cell carcinoma, susceptibility to, 1 (MONDO:0011556) is a cancer with 6 cohort genes (3 CIViC-evidence somatic drivers; 393 ClinVar predisposition records).
At a glance
- Classification: Cancer
- Cohort genes: 6
- ClinVar variants: 393
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | basal cell carcinoma, susceptibility to, 1 |
| Mondo ID | MONDO:0011556 |
| OMIM | 605462 |
| UMLS | C2751544 |
| MedGen | 414403 |
| Is cancer (heuristic) | yes |
Also known as: basal cell carcinoma, somatic · basal cell carcinoma, susceptibility to, 1 · BCC1 · multiple basal cell carcinoma
Data availability: 393 ClinVar variants.
Disease family
Classification path: disease susceptibility › inherited disease susceptibility › basal cell carcinoma, susceptibility to › basal cell carcinoma, susceptibility to, 1
Related subtypes (6): basal cell carcinoma, susceptibility to, 2, basal cell carcinoma, susceptibility to, 3, basal cell carcinoma, susceptibility to, 4, basal cell carcinoma, susceptibility to, 5, basal cell carcinoma, susceptibility to, 6, basal cell carcinoma, susceptibility to, 7
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
393 retrieved; paginated sample, class counts are floors:
192 uncertain significance, 123 conflicting classifications of pathogenicity, 41 benign/likely benign, 12 pathogenic, 12 benign, 5 likely benign, 5 likely pathogenic, 3 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 213660 | NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) | CCNH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 411713 | NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) | CCNH | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 411714 | NM_002890.3(RASA1):c.613_617del (p.Leu205fs) | CCNH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 464870 | NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) | CCNH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 565648 | NM_002890.3(RASA1):c.2245C>T (p.Arg749Ter) | CCNH | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3774528 | NM_000264.5(PTCH1):c.2511_2512delinsTT (p.Lys838Ter) | LOC100507346 | Pathogenic | criteria provided, single submitter |
| 409162 | NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) | LOC100507346 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 931311 | NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) | LOC100507346 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3382899 | NM_000264.5(PTCH1):c.563dup (p.His189fs) | PTCH1 | Pathogenic | criteria provided, single submitter |
| 3774523 | NM_000264.5(PTCH1):c.1728+1G>T | PTCH1 | Pathogenic | criteria provided, single submitter |
| 409158 | NM_000264.5(PTCH1):c.1602+1G>T | PTCH1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 409183 | NM_000264.5(PTCH1):c.1208_1209del (p.Tyr403fs) | PTCH1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 576491 | NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter) | PTCH1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 837425 | NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter) | PTCH1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2576566 | NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro) | PTCH2 | Pathogenic | criteria provided, single submitter |
| 3222908 | NM_002890.3(RASA1):c.1454-11_1454-7del | CCNH | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3592816 | NM_002890.3(RASA1):c.2604-1_2605del | CCNH | Likely pathogenic | criteria provided, single submitter |
| 931156 | NM_002890.3(RASA1):c.2925+1G>A | CCNH | Likely pathogenic | criteria provided, single submitter |
| 3240212 | NM_000264.5(PTCH1):c.2004C>G (p.Tyr668Ter) | LOC100507346 | Likely pathogenic | criteria provided, single submitter |
| 3597832 | NM_000264.5(PTCH1):c.2704-1G>T | PTCH1 | Likely pathogenic | criteria provided, single submitter |
| 1059612 | NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1433582 | NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 188061 | NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 188150 | NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 215456 | NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 237462 | NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 237469 | NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 409133 | NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 409209 | NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 453817 | NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) | LOC100507346 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 16 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Somatic driver evidence (intOGen + CIViC, cohort fanout)
| Gene | intOGen role | Cancer types | CIViC |
|---|---|---|---|
| SMO | Act | BCC,GB,HCC,MBL,PAST,PLMESO,SKIN | CIViC #5365 |
| PTCH1 | LoF | ANGS,BCC,CHOL,ESCA,MBL,NPC,OS,PAST,PLMESO,SKIN,WDTC | CIViC #4645 |
| RASA1 | LoF | HNSC,LUSC | CIViC #4791 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SMO | Orphanet:1553 | Curry-Jones syndrome |
| SMO | Orphanet:2495 | Meningioma |
| SMO | Orphanet:388 | Hirschsprung disease |
| PTCH1 | Orphanet:220386 | Semilobar holoprosencephaly |
| PTCH1 | Orphanet:2353 | Schilbach-Rott syndrome |
| PTCH1 | Orphanet:280195 | Septopreoptic holoprosencephaly |
| PTCH1 | Orphanet:280200 | Microform holoprosencephaly |
| PTCH1 | Orphanet:377 | Gorlin syndrome |
| PTCH1 | Orphanet:77301 | Monosomy 9q22.3 syndrome |
| PTCH1 | Orphanet:93924 | Lobar holoprosencephaly |
| PTCH1 | Orphanet:93925 | Alobar holoprosencephaly |
| PTCH1 | Orphanet:93926 | Midline interhemispheric variant of holoprosencephaly |
| PTCH2 | Orphanet:141276 | Tessier number 7 facial cleft |
| PTCH2 | Orphanet:377 | Gorlin syndrome |
| RASA1 | Orphanet:693907 | RASA1-related capillary malformation-arteriovenous malformation |
| RASA1 | Orphanet:90307 | Parkes Weber syndrome |
Cohort genes → proteins
6 cohort genes, 6 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 6 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SMO | HGNC:11119 | ENSG00000128602 | Q99835 | Protein smoothened | clinvar |
| SMOX | HGNC:15862 | ENSG00000088826 | Q9NWM0 | Spermine oxidase | clinvar |
| CCNH | HGNC:1594 | ENSG00000134480 | P51946 | Cyclin-H | clinvar |
| PTCH1 | HGNC:9585 | ENSG00000185920 | Q13635 | Protein patched homolog 1 | clinvar |
| PTCH2 | HGNC:9586 | ENSG00000117425 | Q9Y6C5 | Protein patched homolog 2 | clinvar |
| RASA1 | HGNC:9871 | ENSG00000145715 | P20936 | Ras GTPase-activating protein 1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SMO | Protein smoothened | G protein-coupled receptor which associates with the patched protein (PTCH) to transduce hedgehog protein signaling. |
| SMOX | Spermine oxidase | Flavoenzyme which catalyzes the oxidation of spermine to spermidine. |
| CCNH | Cyclin-H | Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. |
| PTCH1 | Protein patched homolog 1 | Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). |
| PTCH2 | Protein patched homolog 2 | Plays a role in the control of cellular growth. |
| RASA1 | Ras GTPase-activating protein 1 | GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signaling. |
Protein-family classification
Druggable: 2 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.33
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.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| GPCR | 1 | 4.0× | 0.543 |
| Scaffold/PPI | 1 | 2.9× | 0.543 |
| Enzyme (other) | 1 | 2.0× | 0.543 |
| Other/Unknown | 3 | 0.9× | 0.758 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SMO | GPCR | yes | Frizzled/Smoothened_7TM, Frizzled/SFRP, GPCR_2-like_7TM | |
| SMOX | Enzyme (other) | yes | 1.5.3.16 | Amino_oxidase, FAD/NAD-bd_sf, Flavin_monoamine_oxidase |
| CCNH | Other/Unknown | no | Cyclin_N, Cyclin-like_dom, CyclinH/Ccl1 | |
| PTCH1 | Other/Unknown | no | SSD, TM_rcpt_patched, HMGCR/SNAP/NPC1-like_SSD | |
| PTCH2 | Other/Unknown | no | SSD, TM_rcpt_patched, HMGCR/SNAP/NPC1-like_SSD | |
| RASA1 | Scaffold/PPI | no | C2_dom, SH2, SH3_domain |
Expression context
Cohort genes with no expression data: 0.
6 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 6 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| right ovary | 2 |
| left testis | 2 |
| left ovary | 1 |
| ventricular zone | 1 |
| C1 segment of cervical spinal cord | 1 |
| amygdala | 1 |
| lower esophagus mucosa | 1 |
| calcaneal tendon | 1 |
| right testis | 1 |
| dorsal root ganglion | 1 |
| tibia | 1 |
| trigeminal ganglion | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| choroid plexus epithelium | 1 |
| endothelial cell | 1 |
| placenta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SMO | 225 | ubiquitous | marker | ventricular zone, left ovary, right ovary |
| SMOX | 258 | ubiquitous | marker | amygdala, lower esophagus mucosa, C1 segment of cervical spinal cord |
| CCNH | 297 | ubiquitous | marker | calcaneal tendon, left testis, right testis |
| PTCH1 | 275 | ubiquitous | marker | tibia, dorsal root ganglion, trigeminal ganglion |
| PTCH2 | 162 | broad | marker | male germ line stem cell (sensu Vertebrata) in testis, left testis, right ovary |
| RASA1 | 298 | ubiquitous | marker | endothelial cell, placenta, choroid plexus epithelium |
Protein interactions among cohort
Intra-cohort edges: 2.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| RASA1 | 4,407 |
| PTCH1 | 3,368 |
| SMO | 2,882 |
| CCNH | 2,116 |
| PTCH2 | 1,199 |
| SMOX | 717 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| PTCH1 | SMO | intact, string_interaction |
| PTCH2 | SMO | biogrid_interaction, string_interaction |
Structural data
PDB: 5 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CCNH | P51946 | 47 |
| PTCH1 | Q13635 | 16 |
| SMO | Q99835 | 15 |
| RASA1 | P20936 | 15 |
| SMOX | Q9NWM0 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| PTCH2 | Q9Y6C5 | 79.25 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 82. Enrichment computed across 6 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| GLI proteins bind promoters of Hh responsive genes to promote transcription | 2 | 543.8× | 2e-04 | PTCH1, PTCH2 |
| Class B/2 (Secretin family receptors) | 3 | 95.2× | 2e-04 | SMO, PTCH1, PTCH2 |
| Activation of SMO | 2 | 211.5× | 1e-03 | SMO, PTCH1 |
| Hedgehog ‘off’ state | 2 | 59.5× | 0.009 | SMO, PTCH1 |
| Hedgehog ‘on’ state | 2 | 52.9× | 0.009 | SMO, PTCH1 |
| PAOs oxidise polyamines to amines | 1 | 634.4× | 0.022 | SMOX |
| Interconversion of polyamines | 1 | 475.8× | 0.025 | SMOX |
| Ligand-receptor interactions | 1 | 237.9× | 0.043 | PTCH1 |
| PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases | 1 | 135.9× | 0.049 | RASA1 |
| VEGFR2 mediated cell proliferation | 1 | 95.2× | 0.049 | RASA1 |
| BBSome-mediated cargo-targeting to cilium | 1 | 82.8× | 0.049 | SMO |
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 | 76.1× | 0.049 | CCNH |
| RNA Pol II CTD phosphorylation and interaction with CE during HIV infection | 1 | 68.0× | 0.049 | CCNH |
| RNA Pol II CTD phosphorylation and interaction with CE | 1 | 68.0× | 0.049 | CCNH |
| G1 Phase | 1 | 65.6× | 0.049 | CCNH |
| Downstream signal transduction | 1 | 63.4× | 0.049 | RASA1 |
| mRNA Capping | 1 | 63.4× | 0.049 | CCNH |
| Formation of the Early Elongation Complex | 1 | 56.0× | 0.049 | CCNH |
| Formation of the HIV-1 Early Elongation Complex | 1 | 56.0× | 0.049 | CCNH |
| HIV Transcription Elongation | 1 | 56.0× | 0.049 | CCNH |
| RNA Polymerase I Transcription Termination | 1 | 54.4× | 0.049 | CCNH |
| Cyclin A/B1/B2 associated events during G2/M transition | 1 | 51.4× | 0.049 | CCNH |
| RNA Polymerase I Promoter Clearance | 1 | 48.8× | 0.049 | CCNH |
| Nucleotide Excision Repair | 1 | 47.6× | 0.049 | CCNH |
| Cyclin E associated events during G1/S transition | 1 | 47.6× | 0.049 | CCNH |
| RNA Polymerase I Transcription | 1 | 47.6× | 0.049 | CCNH |
| EPHB-mediated forward signaling | 1 | 44.3× | 0.049 | RASA1 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 1 | 44.3× | 0.049 | CCNH |
| Cyclin A:Cdk2-associated events at S phase entry | 1 | 44.3× | 0.049 | CCNH |
| Formation of HIV-1 elongation complex containing HIV-1 Tat | 1 | 43.3× | 0.049 | CCNH |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| epidermal cell fate specification | 2 | 1123.5× | 1e-04 | PTCH1, PTCH2 |
| positive regulation of epidermal cell differentiation | 2 | 702.2× | 2e-04 | PTCH1, PTCH2 |
| mammary gland epithelial cell differentiation | 2 | 401.2× | 3e-04 | SMO, PTCH1 |
| somite development | 2 | 374.5× | 3e-04 | SMO, PTCH1 |
| smooth muscle tissue development | 2 | 351.1× | 3e-04 | SMO, PTCH1 |
| commissural neuron axon guidance | 2 | 330.4× | 3e-04 | SMO, PTCH1 |
| cell fate determination | 2 | 312.1× | 3e-04 | PTCH1, PTCH2 |
| cellular response to cholesterol | 2 | 280.9× | 3e-04 | SMO, PTCH1 |
| dorsal/ventral neural tube patterning | 2 | 267.5× | 3e-04 | SMO, PTCH1 |
| negative regulation of smoothened signaling pathway | 2 | 151.8× | 1e-03 | PTCH1, PTCH2 |
| vasculogenesis | 2 | 85.1× | 0.003 | SMO, RASA1 |
| ventral midline determination | 1 | 2808.7× | 0.004 | SMO |
| mesenchymal to epithelial transition involved in metanephric renal vesicle formation | 1 | 2808.7× | 0.004 | SMO |
| regulation of heart morphogenesis | 1 | 2808.7× | 0.004 | SMO |
| response to chlorate | 1 | 1404.3× | 0.005 | PTCH1 |
| neural plate axis specification | 1 | 1404.3× | 0.005 | PTCH1 |
| negative regulation of hair follicle development | 1 | 1404.3× | 0.005 | SMO |
| cell proliferation involved in metanephros development | 1 | 1404.3× | 0.005 | PTCH1 |
| polyamine catabolic process | 1 | 936.2× | 0.007 | SMOX |
| spermine catabolic process | 1 | 936.2× | 0.007 | SMOX |
| cell differentiation involved in kidney development | 1 | 936.2× | 0.007 | PTCH1 |
| pancreas morphogenesis | 1 | 936.2× | 0.007 | SMO |
| regulation of cerebellar granule cell precursor proliferation | 1 | 702.2× | 0.008 | SMO |
| contact inhibition | 1 | 702.2× | 0.008 | SMO |
| epithelial-mesenchymal cell signaling | 1 | 702.2× | 0.008 | SMO |
| response to inositol | 1 | 702.2× | 0.008 | SMO |
| regulation of somatic stem cell population maintenance | 1 | 561.7× | 0.009 | SMO |
| polyamine biosynthetic process | 1 | 468.1× | 0.009 | SMOX |
| neural tube patterning | 1 | 468.1× | 0.009 | PTCH1 |
| cerebellar cortex morphogenesis | 1 | 468.1× | 0.009 | SMO |
Therapeutics
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 4
Druggability breadth: 4 of 6 evidence-associated genes (67%) 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.
| Symbol | Example approved molecule |
|---|---|
| SMO | INFIGRATINIB |
| CCNH | ABEMACICLIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CCNH | 28 | 4 |
| SMO | 11 | 4 |
| SMOX | 0 | 0 |
| PTCH1 | 0 | 0 |
| PTCH2 | 0 | 0 |
| RASA1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| INFIGRATINIB | 4 | SMO |
| SONIDEGIB | 4 | SMO |
| SONIDEGIB PHOSPHATE | 4 | SMO |
| VISMODEGIB | 4 | SMO |
| ABEMACICLIB | 4 | CCNH |
| QUIZARTINIB | 4 | CCNH |
| ADAGRASIB | 4 | CCNH |
| LINIFANIB | 3 | SMO |
| PATIDEGIB | 3 | SMO |
| ALVOCIDIB | 3 | CCNH |
| DINACICLIB | 3 | CCNH |
| LEROCICLIB | 3 | CCNH |
| FORETINIB | 2 | SMO |
| CEP-32496 | 2 | SMO |
| TALADEGIB | 2 | SMO |
| SELICICLIB | 2 | CCNH |
| ASNUCICLIB | 2 | CCNH |
| CYC-065 | 2 | CCNH |
| ULECACICLIB | 2 | CCNH |
| RONICICLIB | 2 | CCNH |
| AT-7519 | 2 | CCNH |
| INIXACICLIB | 2 | CCNH |
| ISTISOCICLIB | 2 | CCNH |
| MILCICLIB | 2 | CCNH |
| ZOTIRACICLIB | 2 | CCNH |
| NARAZACICLIB | 2 | CCNH |
| CT-7001 | 2 | CCNH |
| ZEMIRCICLIB | 2 | CCNH |
| TAK-441 | 1 | SMO |
| LEQ506 | 1 | SMO |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CCNH | 348 | Binding:346, Functional:2 |
| SMO | 131 | Binding:111, Functional:20 |
| SMOX | 18 | Binding:15, ADMET:3 |
| PTCH1 | 4 | Binding:4 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| SMOX | 1.5.3.16 | spermine oxidase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| SMO | 131 |
| CCNH | 348 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Drug repurposing candidates
30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| INFIGRATINIB | 4 | SMO |
| SONIDEGIB | 4 | SMO |
| SONIDEGIB PHOSPHATE | 4 | SMO |
| VISMODEGIB | 4 | SMO |
| ABEMACICLIB | 4 | CCNH |
| QUIZARTINIB | 4 | CCNH |
| ADAGRASIB | 4 | CCNH |
| LINIFANIB | 3 | SMO |
| PATIDEGIB | 3 | SMO |
| ALVOCIDIB | 3 | CCNH |
| DINACICLIB | 3 | CCNH |
| LEROCICLIB | 3 | CCNH |
| FORETINIB | 2 | SMO |
| CEP-32496 | 2 | SMO |
| TALADEGIB | 2 | SMO |
| SELICICLIB | 2 | CCNH |
| ASNUCICLIB | 2 | CCNH |
| CYC-065 | 2 | CCNH |
| ULECACICLIB | 2 | CCNH |
| RONICICLIB | 2 | CCNH |
| AT-7519 | 2 | CCNH |
| INIXACICLIB | 2 | CCNH |
| ISTISOCICLIB | 2 | CCNH |
| MILCICLIB | 2 | CCNH |
| ZOTIRACICLIB | 2 | CCNH |
| NARAZACICLIB | 2 | CCNH |
| CT-7001 | 2 | CCNH |
| ZEMIRCICLIB | 2 | CCNH |
| TAK-441 | 1 | SMO |
| LEQ506 | 1 | SMO |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | SMO, CCNH |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | SMOX |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 3 | PTCH1, PTCH2, RASA1 |
Undrugged target profiles
4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PTCH1 | 4 | SMO |
| SMOX | 18 | — |
| PTCH2 | 0 | — |
| RASA1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.