Cutaneous lupus erythematosus
disease diseaseOn this page
Also known as lupus erythematosus, cutaneous
Summary
Cutaneous lupus erythematosus (MONDO:0005282) is a disease with 11 cohort genes (17 GWAS associations across 5 studies) and 49 clinical trials. Top therapeutic interventions include alitretinoin, anifrolumab, and filgotinib.
At a glance
- Cohort genes: 11
- GWAS associations: 17
- Clinical trials: 49
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | cutaneous lupus erythematosus |
| Mondo ID | MONDO:0005282 |
| EFO | EFO:0003834 |
| MeSH | D008178 |
| DOID | DOID:0050169 |
| ICD-11 | 1401395930 |
| NCIT | C26819 |
| SNOMED CT | 7119001 |
| UMLS | C0024137 |
| MedGen | 7401 |
| GARD | 0006225 |
| Is cancer (heuristic) | no |
Also known as: lupus erythematosus, cutaneous
Data availability: 17 GWAS associations (5 studies).
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › connective tissue disorder › rheumatic disorder › lupus erythematosus › cutaneous lupus erythematosus
Related subtypes (2): systemic lupus erythematosus, drug-induced lupus erythematosus
Subtypes (4): subacute cutaneous lupus erythematosus, chronic cutaneous lupus erythematosus, Rowell syndrome, bullous systemic lupus erythematosus
Genetics & variants
GWAS landscape
17 GWAS associations across 5 studies. Top hits map to 9 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs34572943 | 9e-37 | ITGAM | G | 0.63 |
| chr16:31276811 | 4e-21 | G | 0.76 | |
| rs9271642 | 6e-20 | HLA-DRB1 - HLA-DQA1 | A | 0.38 |
| rs9267531 | 3e-14 | CSNK2B | G | 2.62 |
| rs3131060 | 1e-13 | HCG20 - LINC00243 | A | 2.3 |
| rs143943947 | 4e-13 | RBM33-DT | A | 2.73 |
| rs187722945 | 1e-12 | KCNMB2 | T | 3.79 |
| rs113345224 | 5e-12 | RN7SKP167 - FGFR2 | C | 1.78 |
| chr6:32573293 | 8e-12 | G | 0.45 | |
| rs545178095 | 1e-11 | LINC00375 - LINC00351 | G | 3.07 |
| rs3094067 | 2e-11 | TRIM39-RPP21, TRIM39 | G | 2.32 |
| rs3094084 | 2e-11 | NAPGP2 - MUC21 | T | 2.3 |
| rs534392708 | 3e-11 | SENP6 | G | 2.95 |
| rs2187668 | 4e-10 | HLA-DQA1 | T | 2.93 |
| rs3130564 | 4e-10 | PSORS1C1 | T | 2.05 |
| rs1233491 | 8e-10 | RPS17P1 - LINC02829 | C | 2.2 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476182 | Verma A | 2024 | 752 | 450,411 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476181 | Verma A | 2024 | 607 | 121,151 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480452 | Verma A | 2024 | 607 | 121,151 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST002884 | Kunz M | 2015 | 151 | 1,288 | Genome-wide association study identifies new susceptibility loci for cutaneous lupus erythematosus. |
| GCST90436600 | Zhou W | 2018 | 129 | 401,365 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 16 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 11 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 5 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 10 |
| intergenic_variant | 4 |
| unknown | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs34572943 | 16 | 31261032 | G>A | 0.112 | intron_variant | ITGAM | 9e-37 | Tier 4: intronic/intergenic |
| chr16:31276811 | 0.104 | 4e-21 | Tier 4: intronic/intergenic | |||||
| rs9271642 | 6 | 32624442 | A>G,T | 0.444 | intergenic_variant | HLA-DRB1 - HLA-DQA1 | 6e-20 | Tier 4: intronic/intergenic |
| rs9267531 | 6 | 31668965 | A>G | 0.1 | intron_variant | CSNK2B | 3e-14 | Tier 4: intronic/intergenic |
| rs3131060 | 6 | 30795514 | G>A | 0.112 | intergenic_variant | HCG20 - LINC00243 | 1e-13 | Tier 4: intronic/intergenic |
| rs143943947 | 7 | 155626886 | A>C | 0.001 | intron_variant | RBM33-DT | 4e-13 | Tier 4: intronic/intergenic |
| rs187722945 | 3 | 178502909 | T>C | 0.001 | intron_variant | KCNMB2 | 1e-12 | Tier 4: intronic/intergenic |
| rs113345224 | 10 | 121463848 | C>T | 0.001 | intergenic_variant | RN7SKP167 - FGFR2 | 5e-12 | Tier 4: intronic/intergenic |
| chr6:32573293 | 0.367 | 8e-12 | Tier 4: intronic/intergenic | |||||
| rs545178095 | 13 | 85209689 | G>A | 0.001 | intron_variant | LINC00375 - LINC00351 | 1e-11 | Tier 4: intronic/intergenic |
| rs3094067 | 6 | 30331468 | T>A,G | 0.096 | intron_variant | TRIM39-RPP21, TRIM39 | 2e-11 | Tier 4: intronic/intergenic |
| rs3094084 | 6 | 30979732 | A>C,T | 0.154 | intergenic_variant | NAPGP2 - MUC21 | 2e-11 | Tier 4: intronic/intergenic |
| rs534392708 | 6 | 75625137 | G>A,T | 0 | intron_variant | SENP6 | 3e-11 | Tier 4: intronic/intergenic |
| rs2187668 | 6 | 32638107 | C>A,G,T | 0.107 | intron_variant | HLA-DQA1 | 4e-10 | Tier 4: intronic/intergenic |
| rs3130564 | 6 | 31133897 | C>T | 0.163 | intron_variant | PSORS1C1 | 4e-10 | Tier 4: intronic/intergenic |
| rs1233491 | 6 | 29493953 | G>C | 0.088 | intron_variant | RPS17P1 - LINC02829 | 8e-10 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CSNK2B | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| CSNK2B | Orphanet:689397 | Poirier-Bienvenu neurodevelopmental syndrome |
| HLA-DQA1 | Orphanet:391490 | Adult-onset myasthenia gravis |
| HLA-DQA1 | Orphanet:930 | Idiopathic achalasia |
| MSH5 | Orphanet:399805 | Male infertility with azoospermia or oligozoospermia due to single gene mutation |
Cohort genes → proteins
11 cohort genes, 11 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 11 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TRIM39 | HGNC:10065 | ENSG00000204599 | Q9HCM9 | E3 ubiquitin-protein ligase TRIM39 | gwas |
| MAS1L | HGNC:13961 | ENSG00000204687 | P35410 | Mas-related G-protein coupled receptor MRG | gwas |
| PSORS1C1 | HGNC:17202 | ENSG00000204540 | Q9UIG5 | Psoriasis susceptibility 1 candidate gene 1 protein | gwas |
| RPP21 | HGNC:21300 | ENSG00000241370 | Q9H633 | Ribonuclease P protein subunit p21 | gwas |
| MUC21 | HGNC:21661 | ENSG00000204544 | Q5SSG8 | Mucin-21 | gwas |
| CSNK2B | HGNC:2460 | ENSG00000204435 | P67870 | Casein kinase II subunit beta | gwas |
| FLOT1 | HGNC:3757 | ENSG00000137312 | O75955 | Flotillin-1 | gwas |
| HLA-DQA1 | HGNC:4942 | ENSG00000196735 | P01909 | HLA class II histocompatibility antigen, DQ alpha 1 chain | gwas |
| MICA | HGNC:7090 | ENSG00000204520 | Q29983 | MHC class I polypeptide-related sequence A | gwas |
| MICB | HGNC:7091 | ENSG00000204516 | Q29980 | MHC class I polypeptide-related sequence B | gwas |
| MSH5 | HGNC:7328 | ENSG00000204410 | O43196 | MutS protein homolog 5 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TRIM39 | E3 ubiquitin-protein ligase TRIM39 | E3 ubiquitin-protein ligase. |
| RPP21 | Ribonuclease P protein subunit p21 | Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. |
| CSNK2B | Casein kinase II subunit beta | Regulatory subunit of casein kinase II/CK2. |
| FLOT1 | Flotillin-1 | May act as a scaffolding protein within caveolar membranes, functionally participating in formation of caveolae or caveolae-like vesicles. |
| HLA-DQA1 | HLA class II histocompatibility antigen, DQ alpha 1 chain | Binds 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. |
| MICA | MHC class I polypeptide-related sequence A | Widely expressed membrane-bound protein which acts as a ligand to stimulate an activating receptor KLRK1/NKG2D, expressed on the surface of essentially all human natural killer (NK), gammadelta T and CD8 alphabeta T-cells. |
| MICB | MHC class I polypeptide-related sequence B | Widely expressed membrane-bound protein which acts as a ligand to stimulate an activating receptor KLRK1/NKG2D, expressed on the surface of essentially all human natural killer (NK), gammadelta T and CD8+ alphabeta T-cells. |
| MSH5 | MutS protein homolog 5 | Involved in DNA mismatch repair and meiotic recombination processes. |
Protein-family classification
Druggable: 6 · Difficult: 1 · Unknown: 4 · Druggable fraction: 0.55
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 3 | 8.0× | 0.032 |
| Kinase | 1 | 2.5× | 0.749 |
| GPCR | 1 | 2.2× | 0.749 |
| Enzyme (other) | 1 | 1.1× | 0.910 |
| Transcription factor | 1 | 0.8× | 0.910 |
| Other/Unknown | 4 | 0.7× | 0.946 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TRIM39 | Transcription factor | no | Znf_B-box, Znf_RING, B30.2/SPRY | |
| MAS1L | GPCR | yes | GPCR_Rhodpsn, GPCR_Rhodpsn_7TM, MRGPCRFAMILY | |
| PSORS1C1 | Other/Unknown | no | SEEK1 | |
| RPP21 | Enzyme (other) | yes | 3.1.26.5 | Rpr2/Snm1/Rpp21 |
| MUC21 | Other/Unknown | no | Tandem-repeating_mucin, Mucin_dom | |
| CSNK2B | Kinase | yes | Casein_kinase_II_reg-sub, Casein_kin_II_reg-sub_N, Casein_kinase_II_beta-like | |
| FLOT1 | Other/Unknown | no | Band_7, Flotillin_fam, Band_7/SPFH_dom_sf | |
| HLA-DQA1 | Antibody/Immunoglobulin | yes | MHC_II_a_N, Ig/MHC_CS, Ig_C1-set | |
| MICA | Antibody/Immunoglobulin | yes | Ig_C1-set, Ig-like_dom, MHC_I-like_Ag-recog | |
| MICB | Antibody/Immunoglobulin | yes | Ig_C1-set, Ig-like_dom, MHC_I-like_Ag-recog | |
| MSH5 | Other/Unknown | no | DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS_core, DNA_mismatch_repair_MutS_clamp |
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) | 11 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| left testis | 4 |
| right testis | 3 |
| granulocyte | 2 |
| gall bladder | 2 |
| rectum | 2 |
| lower esophagus mucosa | 2 |
| monocyte | 2 |
| primordial germ cell in gonad | 1 |
| smooth muscle tissue | 1 |
| testis | 1 |
| lower esophagus | 1 |
| muscle layer of sigmoid colon | 1 |
| esophagus mucosa | 1 |
| vagina | 1 |
| skin of leg | 1 |
| left adrenal gland | 1 |
| left adrenal gland cortex | 1 |
| right adrenal gland | 1 |
| descending thoracic aorta | 1 |
| left ovary | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TRIM39 | 134 | ubiquitous | yes | granulocyte, primordial germ cell in gonad, left testis |
| MAS1L | 58 | yes | smooth muscle tissue, gall bladder, rectum | |
| PSORS1C1 | 124 | ubiquitous | yes | left testis, right testis, testis |
| RPP21 | 133 | ubiquitous | marker | muscle layer of sigmoid colon, lower esophagus mucosa, lower esophagus |
| MUC21 | 103 | tissue_specific | marker | lower esophagus mucosa, esophagus mucosa, vagina |
| CSNK2B | 134 | ubiquitous | marker | left testis, right testis, skin of leg |
| FLOT1 | 134 | ubiquitous | marker | right adrenal gland, left adrenal gland, left adrenal gland cortex |
| HLA-DQA1 | 244 | broad | marker | gall bladder, rectum, monocyte |
| MICA | 134 | ubiquitous | marker | descending thoracic aorta, left ovary, popliteal artery |
| MICB | 133 | ubiquitous | yes | granulocyte, leukocyte, monocyte |
| MSH5 | 134 | ubiquitous | yes | right uterine tube, right testis, left testis |
Protein interactions among cohort
Intra-cohort edges: 2.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| FLOT1 | 2,482 |
| MSH5 | 1,572 |
| CSNK2B | 1,486 |
| TRIM39 | 1,214 |
| RPP21 | 778 |
| MUC21 | 588 |
| PSORS1C1 | 376 |
| MAS1L | 286 |
| MICA | 214 |
| HLA-DQA1 | 196 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| MICA | MICB | intact |
| RPP21 | TRIM39 | string_interaction |
Structural data
PDB: 7 · AlphaFold-only: 4 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| HLA-DQA1 | P01909 | 28 |
| CSNK2B | P67870 | 10 |
| MICA | Q29983 | 10 |
| TRIM39 | Q9HCM9 | 3 |
| RPP21 | Q9H633 | 2 |
| FLOT1 | O75955 | 2 |
| MICB | Q29980 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| MSH5 | O43196 | 82.36 |
| MUC21 | Q5SSG8 | 74.30 |
| MAS1L | P35410 | 66.76 |
| PSORS1C1 | Q9UIG5 | 55.10 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 58. Enrichment computed across 11 evidence-associated genes (8 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 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Phosphorylation and nuclear translocation of BMAL1 (ARNTL) and CLOCK | 1 | 285.5× | 0.059 | CSNK2B |
| WNT mediated activation of DVL | 1 | 178.4× | 0.059 | CSNK2B |
| Condensation of Prometaphase Chromosomes | 1 | 129.8× | 0.059 | CSNK2B |
| Receptor Mediated Mitophagy | 1 | 129.8× | 0.059 | CSNK2B |
| Phosphorylation and nuclear translocation of the CRY:PER:kinase complex | 1 | 102.0× | 0.059 | CSNK2B |
| Maturation of hRSV A proteins | 1 | 95.2× | 0.059 | CSNK2B |
| Defective GALNT3 causes HFTC | 1 | 89.2× | 0.059 | MUC21 |
| Defective GALNT12 causes CRCS1 | 1 | 89.2× | 0.059 | MUC21 |
| Defective C1GALT1C1 causes TNPS | 1 | 84.0× | 0.059 | MUC21 |
| Translocation of ZAP-70 to Immunological synapse | 1 | 79.3× | 0.059 | HLA-DQA1 |
| Phosphorylation of CD3 and TCR zeta chains | 1 | 68.0× | 0.059 | HLA-DQA1 |
| Synaptic adhesion-like molecules | 1 | 68.0× | 0.059 | FLOT1 |
| Co-inhibition by PD-1 | 1 | 64.9× | 0.059 | HLA-DQA1 |
| Signal transduction by L1 | 1 | 64.9× | 0.059 | CSNK2B |
| Termination of O-glycan biosynthesis | 1 | 62.1× | 0.059 | MUC21 |
| RIPK1-mediated regulated necrosis | 1 | 57.1× | 0.059 | FLOT1 |
| Regulation of necroptotic cell death | 1 | 54.9× | 0.059 | FLOT1 |
| Dectin-2 family | 1 | 52.9× | 0.059 | MUC21 |
| Synthesis of PC | 1 | 51.0× | 0.059 | CSNK2B |
| tRNA processing | 1 | 44.6× | 0.062 | RPP21 |
| Generation of second messenger molecules | 1 | 43.3× | 0.062 | HLA-DQA1 |
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 1 | 42.0× | 0.062 | CSNK2B |
| Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding | 1 | 37.6× | 0.064 | CSNK2B |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 1 | 37.6× | 0.064 | CSNK2B |
| Meiosis | 1 | 35.7× | 0.064 | MSH5 |
| C-type lectin receptors (CLRs) | 1 | 29.7× | 0.074 | MUC21 |
| SPOP-mediated proteasomal degradation of PD-L1(CD274) | 1 | 28.6× | 0.074 | CSNK2B |
| Diseases associated with O-glycosylation of proteins | 1 | 26.9× | 0.076 | MUC21 |
| tRNA processing in the nucleus | 1 | 24.6× | 0.077 | RPP21 |
| Reproduction | 1 | 23.8× | 0.077 | MSH5 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 10 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| gamma-delta T cell activation | 2 | 421.3× | 6e-04 | MICA, MICB |
| response to heat | 2 | 84.3× | 0.006 | MICA, MICB |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 2 | 80.2× | 0.006 | TRIM39, CSNK2B |
| killing of cells of another organism | 2 | 54.4× | 0.010 | MICA, MICB |
| plasma membrane raft assembly | 1 | 842.6× | 0.010 | FLOT1 |
| positive regulation of cell junction assembly | 1 | 842.6× | 0.010 | FLOT1 |
| immune response to tumor cell | 1 | 561.7× | 0.010 | MICA |
| immune response-activating cell surface receptor signaling pathway | 1 | 561.7× | 0.010 | MICB |
| positive regulation of synaptic transmission, dopaminergic | 1 | 561.7× | 0.010 | FLOT1 |
| regulation of neurotransmitter uptake | 1 | 561.7× | 0.010 | FLOT1 |
| symbiont-mediated disruption of host cell PML body | 1 | 561.7× | 0.010 | CSNK2B |
| immune response | 3 | 14.1× | 0.010 | HLA-DQA1, MICA, MICB |
| negative regulation of defense response to virus by host | 1 | 421.3× | 0.011 | MICB |
| negative regulation of viral life cycle | 1 | 421.3× | 0.011 | CSNK2B |
| positive regulation of activin receptor signaling pathway | 1 | 280.9× | 0.015 | CSNK2B |
| plasma membrane raft organization | 1 | 280.9× | 0.015 | FLOT1 |
| regulation of receptor internalization | 1 | 240.7× | 0.016 | FLOT1 |
| negative regulation of natural killer cell activation | 1 | 210.7× | 0.016 | MICA |
| adiponectin-activated signaling pathway | 1 | 210.7× | 0.016 | CSNK2B |
| caveola assembly | 1 | 210.7× | 0.016 | FLOT1 |
| chiasma assembly | 1 | 187.2× | 0.016 | MSH5 |
| endothelial tube morphogenesis | 1 | 187.2× | 0.016 | CSNK2B |
| adaptive immune response | 2 | 16.9× | 0.017 | HLA-DQA1, MICB |
| regulation of cell cycle G1/S phase transition | 1 | 153.2× | 0.018 | TRIM39 |
| tRNA 5’-leader removal | 1 | 129.6× | 0.020 | RPP21 |
| positive regulation of cell-cell adhesion mediated by cadherin | 1 | 129.6× | 0.020 | FLOT1 |
| T cell mediated cytotoxicity | 1 | 112.3× | 0.022 | MICA |
| peptide antigen assembly with MHC class II protein complex | 1 | 105.3× | 0.023 | HLA-DQA1 |
| negative regulation of cell-cell adhesion | 1 | 99.1× | 0.023 | MUC21 |
| negative regulation of natural killer cell mediated cytotoxicity | 1 | 88.7× | 0.025 | MICA |
Therapeutics
Drugs indicated or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
12 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Anifrolumab | Phase 3 |
| Hydroxychloroquine | Phase 3 |
| Litifilimab | Phase 3 |
| Alitretinoin | Phase 2 |
| Dazukibart | Phase 2 |
| Ergocalciferol | Phase 2 |
| Etanercept | Phase 2 |
| Filgotinib | Phase 2 |
| Fumaric Acid | Phase 2 |
| Mocravimod | Phase 2 |
| Niacinamide | Phase 2 |
| Tacrolimus Anhydrous | Phase 2 |
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 2 · Undrugged: 9
Druggability breadth: 4 of 11 evidence-associated genes (36%) 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 |
|---|---|
| CSNK2B | PALBOCICLIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CSNK2B | 14 | 4 |
| FLOT1 | 1 | 2 |
| TRIM39 | 0 | 0 |
| MAS1L | 0 | 0 |
| PSORS1C1 | 0 | 0 |
| RPP21 | 0 | 0 |
| MUC21 | 0 | 0 |
| HLA-DQA1 | 0 | 0 |
| MICA | 0 | 0 |
| MICB | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| PALBOCICLIB | 4 | CSNK2B |
| MITOXANTRONE | 4 | CSNK2B |
| QUERCETIN | 3 | CSNK2B |
| ENTOSPLETINIB | 3 | CSNK2B |
| SILMITASERTIB | 2 | CSNK2B |
| FISETIN | 2 | CSNK2B |
| ELLAGIC ACID | 2 | CSNK2B |
| MOLIBRESIB | 2 | CSNK2B, FLOT1 |
| CI-1040 | 2 | CSNK2B |
| LUTEOLIN | 2 | CSNK2B |
| ONVANSERTIB | 2 | CSNK2B |
| BAICALEIN | 2 | CSNK2B |
| CHROMOCARB | 2 | CSNK2B |
| KAEMPFEROL | 1 | CSNK2B |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CSNK2B | 421 | Binding:419, Functional:2 |
| FLOT1 | 7 | Binding:7 |
| MAS1L | 2 | Binding:2 |
| HLA-DQA1 | 2 | Binding:2 |
| MICA | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| RPP21 | 3.1.26.5 | ribonuclease P |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CSNK2B | 421 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 11; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
14 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| PALBOCICLIB | 4 | CSNK2B |
| MITOXANTRONE | 4 | CSNK2B |
| QUERCETIN | 3 | CSNK2B |
| ENTOSPLETINIB | 3 | CSNK2B |
| SILMITASERTIB | 2 | CSNK2B |
| FISETIN | 2 | CSNK2B |
| ELLAGIC ACID | 2 | CSNK2B |
| MOLIBRESIB | 2 | CSNK2B, FLOT1 |
| CI-1040 | 2 | CSNK2B |
| LUTEOLIN | 2 | CSNK2B |
| ONVANSERTIB | 2 | CSNK2B |
| BAICALEIN | 2 | CSNK2B |
| CHROMOCARB | 2 | CSNK2B |
| KAEMPFEROL | 1 | CSNK2B |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | CSNK2B |
| B | Phased (≥1) drug, not yet approved | 1 | FLOT1 |
| C | Druggable family + PDB, no drug | 4 | RPP21, HLA-DQA1, MICA, MICB |
| D | Druggable family + AlphaFold only, no drug | 1 | MAS1L |
| E | Difficult family or no structure, no drug | 4 | TRIM39, PSORS1C1, MUC21, MSH5 |
Undrugged target profiles
9 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| TRIM39 | 0 | — |
| MAS1L | 2 | — |
| PSORS1C1 | 0 | — |
| RPP21 | 0 | — |
| MUC21 | 0 | — |
| HLA-DQA1 | 2 | — |
| MICA | 1 | — |
| MICB | 0 | — |
| MSH5 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 49.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 14 |
| Not specified | 14 |
| PHASE1 | 13 |
| PHASE3 | 5 |
| EARLY_PHASE1 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06015737 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase III Study to Investigate the Efficacy and Safety of Anifrolumab in Adults With Chronic and/or Subacute Cutaneous Lupus Erythematosus |
| NCT06965244 | PHASE3 | NOT_YET_RECRUITING | Lenalidomide vs Methotrexate in Difficult-to-treat Cutaneous Lupus Erythematosus |
| NCT07332481 | PHASE3 | RECRUITING | A Study of Enpatoran in Participants With Cutaneous Manifestations of Lupus With or Without Systemic Disease |
| NCT07355218 | PHASE3 | RECRUITING | A Study of Enpatoran in Participants With Cutaneous Manifestations of Lupus With or Without Systemic Disease (ELOWEN-2) |
| NCT00470912 | PHASE3 | COMPLETED | Sunscreen RV 2457C in Photoinduced CLE |
| NCT07260877 | PHASE2 | RECRUITING | A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study With an Open-Label Extension Evaluating the Efficacy and Safety of VENT-03 in Adult Participants With Active Cutaneous Lupus Erythematosus With or Without Systemic Lupus Erythematosus |
| NCT07440537 | PHASE2 | NOT_YET_RECRUITING | Evaluate the Efficacy and Safety of ICP-488 in Subjects With Cutaneous Lupus Erythematosus (CLE) Double-blind Study |
| NCT00317681 | PHASE2 | COMPLETED | Efficacy of Topical Tacrolimus in Different Subtypes With Cutaneous Lupus Erythematosus (CLE) |
| NCT00523588 | PHASE2 | COMPLETED | Treatment of Cutaneous Lupus Erythematosus (CLE) With the 595 nm Flashlamp Pulsed Dye Laser |
| NCT01300208 | PHASE2 | COMPLETED | To Evaluate the Preliminary Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of CC-11050 in Subjects With Discoid Lupus Erythematosus and Subacute Cutaneous Lupus Erythematosus |
| NCT01352988 | PHASE2 | COMPLETED | Efficacy and Safety of Fumaric Acid Esters (Fumaderm®) in the Treatment of Patients With Cutaneous Lupus Erythematosus |
| NCT01407679 | PHASE2 | TERMINATED | Efficacy and Safety of Oral Alitretinoin (Toctino®) in the Treatment of Patients With Cutaneous Lupus Erythematosus |
| NCT01498406 | PHASE2 | TERMINATED | Vitamin D Status, Disease Specific and Quality of Life Outcomes in Patients With Cutaneous Lupus |
| NCT02656082 | PHASE2 | COMPLETED | Targeted Therapy Using Intradermal Injection of Etanercept for Remission Induction in Discoid Lupus Erythematosus |
| NCT03134222 | PHASE2 | COMPLETED | Study to Evaluate Safety and Efficacy of Filgotinib and Lanraplenib in Females With Moderately-to-Severely Active Cutaneous Lupus Erythematosus (CLE) |
| NCT03260166 | PHASE2 | UNKNOWN | Nicotinamide Treatment for Lupus-associated Skin Lesions in Lupus Erythematosus |
| NCT04781816 | PHASE2 | COMPLETED | Proof of Concept Study of SAR443122 in Patients With Cutaneous Lupus Erythematosus |
| NCT05629208 | PHASE2 | TERMINATED | Study of Edecesertib in Participants With Cutaneous Lupus Erythematosus (CLE) |
| NCT05879718 | PHASE2 | TERMINATED | A Study to Learn About the Study Medicine (PF-06823859) in Adults With Active CLE or SLE With Skin Symptoms. |
| NCT05411016 | PHASE1 | ACTIVE_NOT_RECRUITING | A Study of KK4277 in Healthy Volunteers and Patients With Systemic Lupus Erythematosus and Cutaneous Lupus Erythematosus |
| NCT07306585 | PHASE1 | NOT_YET_RECRUITING | The Safety, Tolerability, Pharmacokinetics, Immunogenicity and Preliminary Efficacy of HC022 Injection in Subjects With SLE/CLE |
| NCT07408908 | PHASE1 | NOT_YET_RECRUITING | Safety, Tolerability, and Pharmacokinetic/Pharmacodynamic (PK/PD) Profile of ACT100 in Healthy Participants.. |
| NCT07455578 | PHASE1 | NOT_YET_RECRUITING | Study of S-4321 in Participants With an Autoimmune or Immune-mediated Disease |
| NCT01470313 | PHASE1 | TERMINATED | A Multiple Dose Study Of PD-0360324 In Patients With Active Cutaneous Lupus Erythematosus |
| NCT01702740 | PHASE1 | COMPLETED | A Study of the Safety and Pharmacokinetics of CNTO 136 in Patients With Cutaneous Lupus Erythematosus and Systemic Lupus Erythematosus |
| NCT01845740 | PHASE1 | COMPLETED | Phase Ib Study of SC Milatuzumab in SLE |
| NCT02428309 | PHASE1 | TERMINATED | Autologous Polyclonal Tregs for Lupus |
| NCT02927457 | PHASE1 | COMPLETED | Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Clinical Effect of GSK2646264 in Cutaneous Lupus Erythematosus Subjects |
| NCT03817424 | PHASE1 | COMPLETED | A Study to Evaluate VIB7734 in Participants With Systemic Lupus Erythematosus (SLE), Cutaneous Lupus Erythematosus (CLE), Sjogren’s Syndrome, Systemic Sclerosis, Polymyositis, and Dermatomyositis |
| NCT04493541 | PHASE1 | COMPLETED | A Study to Assess the Safety and Drug Levels of BMS-986256 in Participants With Active Cutaneous Lupus Erythematosus |
| NCT04647708 | PHASE1 | COMPLETED | Study of M5049 in CLE and SLE Participants |
| NCT04809623 | PHASE1 | TERMINATED | Study of Edecesertib in Participants With Cutaneous Lupus Erythematosus (CLE) |
| NCT06661213 | EARLY_PHASE1 | ENROLLING_BY_INVITATION | Tapinarof for Cutaneous Lupus Erythematosus |
| NCT07072611 | EARLY_PHASE1 | RECRUITING | Clinical Trial to Evaluate Safety, Tolerability, and Pharmacokinetics of SOF-SKN in Healthy Participants |
| NCT01841619 | EARLY_PHASE1 | COMPLETED | IVIg Efficacy Study to Treat Cutaneous Lupus Erythematosus |
| NCT01510067 | Not specified | RECRUITING | Prevalence and Clinical Severity of Cutaneous Lupus Erythematosus |
| NCT06411106 | Not specified | RECRUITING | Deep Phenotyping of Cutaneous Lupus Erythematosus |
| NCT06927219 | Not specified | RECRUITING | Research Accelerated by You Lupus Registry |
| NCT00222183 | Not specified | WITHDRAWN | Cutaneous Lupus Erythematosus and Elidel |
| NCT00420121 | Not specified | UNKNOWN | European Society of Cutaneous Lupus Erythematosus (EUSCLE) |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ALITRETINOIN | 4 | 1 |
| ANIFROLUMAB | 4 | 1 |
| FILGOTINIB | 4 | 1 |
| METHOTREXATE | 4 | 1 |
| NIACINAMIDE | 4 | 1 |
| PIMECROLIMUS | 4 | 1 |
| TAPINAROF | 4 | 1 |
| DAZUKIBART | 3 | 1 |
| ENPATORAN | 2 | 3 |
| EDECESERTIB | 2 | 2 |
| AFIMETORAN | 2 | 1 |
| DAXDILIMAB | 2 | 1 |
| DOVRAMILAST | 2 | 1 |
| ECLITASERTIB | 2 | 1 |
| LANRAPLENIB | 2 | 1 |
| MILATUZUMAB | 2 | 1 |
Related Atlas pages
- Cohort genes: TRIM39, MAS1L, PSORS1C1, RPP21, MUC21, CSNK2B, FLOT1, HLA-DQA1, MICA, MICB, MSH5
- Drugs: Alitretinoin, Anifrolumab, Filgotinib, Methotrexate, Niacinamide, Pimecrolimus, Tapinarof, Dazukibart