CDPF1
geneOn this page
Also known as CDKN1A
Summary
CDPF1 (cysteine rich DPF motif domain containing 1, HGNC:33710) is a protein-coding gene on chromosome 22q13.31, encoding Cysteine-rich DPF motif domain-containing protein 1 (Q6NVV7).
At a glance
- GWAS associations: 63
- Clinical variants (ClinVar): 76 total — 1 pathogenic
- MANE Select transcript:
NM_207327
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:33710 |
| Approved symbol | CDPF1 |
| Name | cysteine rich DPF motif domain containing 1 |
| Location | 22q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CDKN1A |
| Ensembl gene | ENSG00000205643 |
| Ensembl biotype | protein_coding |
| Entrez | 150383 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 19 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000314567, ENST00000381037, ENST00000404583, ENST00000404744, ENST00000474256, ENST00000475605, ENST00000904358, ENST00000904359, ENST00000904360, ENST00000904361, ENST00000904362, ENST00000904363, ENST00000904364, ENST00000904365, ENST00000904366, ENST00000904367, ENST00000931570, ENST00000931571, ENST00000931572, ENST00000931573, ENST00000962067, ENST00000962068
RefSeq mRNA: 1 — MANE Select: NM_207327
NM_207327
CCDS: CCDS33670
Canonical transcript exons
ENST00000314567 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001487305 | 46244013 | 46245238 |
| ENSE00001916377 | 46250256 | 46250293 |
| ENSE00002287394 | 46248172 | 46248284 |
| ENSE00003511837 | 46247110 | 46247221 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 86.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5664 / max 27.0833, expressed in 1664 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194601 | 4.5664 | 1664 |
Top tissues by expression
241 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 86.75 | silver quality |
| tibialis anterior | UBERON:0001385 | 85.72 | gold quality |
| apex of heart | UBERON:0002098 | 84.37 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 82.72 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.55 | gold quality |
| lower esophagus | UBERON:0013473 | 82.47 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.47 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.11 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 82.01 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.86 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.79 | gold quality |
| granulocyte | CL:0000094 | 81.77 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.37 | gold quality |
| body of uterus | UBERON:0009853 | 81.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.14 | gold quality |
| adrenal cortex | UBERON:0001235 | 81.14 | gold quality |
| muscle of leg | UBERON:0001383 | 81.07 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.03 | gold quality |
| mucosa of stomach | UBERON:0001199 | 80.59 | gold quality |
| right ovary | UBERON:0002118 | 80.56 | gold quality |
| right coronary artery | UBERON:0001625 | 80.52 | gold quality |
| deltoid | UBERON:0001476 | 80.51 | silver quality |
| endocervix | UBERON:0000458 | 80.49 | gold quality |
| heart left ventricle | UBERON:0002084 | 80.38 | gold quality |
| popliteal artery | UBERON:0002250 | 80.38 | gold quality |
| tibial artery | UBERON:0007610 | 80.37 | gold quality |
| left ovary | UBERON:0002119 | 80.35 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 80.14 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 80.10 | gold quality |
| cardiac ventricle | UBERON:0002082 | 80.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.15 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
40 targeting CDPF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-542-3P | 99.34 | 67.58 | 1270 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4755-3P | 98.77 | 65.59 | 1915 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-4704-3P | 98.28 | 69.33 | 1300 |
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cdpf1 | ENSDARG00000095705 |
| mus_musculus | Cdpf1 | ENSMUSG00000064284 |
| rattus_norvegicus | Cdpf1 | ENSRNOG00000032846 |
| drosophila_melanogaster | CG11755 | FBGN0037611 |
| caenorhabditis_elegans | WBGENE00008434 | |
| caenorhabditis_elegans | WBGENE00271706 |
Protein
Protein identifiers
Cysteine-rich DPF motif domain-containing protein 1 — Q6NVV7 (reviewed: Q6NVV7)
All UniProt accessions (4): Q6NVV7, F6RAJ7, F6UL18, H9KV78
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the CDPF1 family.
RefSeq proteins (1): NP_997210* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018785 | CDPF1_dom | Domain |
| IPR042426 | CDPF1 | Family |
Pfam: PF10170
UniProt features (6 total): sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6NVV7-F1 | 87.30 | 0.67 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 1052 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, SA_G2_AND_M_PHASES, WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, MODULE_52, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, AP1_01, GOBP_POSITIVE_REGULATION_OF_DNA_REPLICATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, FREAC2_01, HNF3ALPHA_Q6, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, HARRIS_HYPOXIA
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
226 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CDPF1 | PKDREJ | Q9NTG1 | 575 |
| CDPF1 | ATXN10 | Q9UBB4 | 533 |
| CDPF1 | WNT7B | P56706 | 457 |
| CDPF1 | DNLZ | Q5SXM8 | 350 |
| CDPF1 | PRORP | O15091 | 347 |
| CDPF1 | WDR89 | Q96FK6 | 347 |
| CDPF1 | MYH8 | P13535 | 317 |
| CDPF1 | TMEM203 | Q969S6 | 312 |
| CDPF1 | IQUB | Q8NA54 | 310 |
| CDPF1 | PSMD9 | O00233 | 303 |
| CDPF1 | TMC6 | Q7Z403 | 234 |
| CDPF1 | PAX7 | P23759 | 230 |
| CDPF1 | SLC47A1 | Q96FL8 | 213 |
| CDPF1 | ARHGAP42 | A6NI28 | 213 |
| CDPF1 | SLC47A2 | Q86VL8 | 213 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BHLHE40 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB5 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | TFAP2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRS3 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PHLDA1 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFEMP2 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | KCTD9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VGLL3 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZIC1 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HDAC4 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | MISP | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM221A | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDPF1 | DHX34 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CDPF1 | PTGER4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CDPF1 | USP4 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | ATOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| CREB5 | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDPF1 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.000 |
| TFAP2D | CDPF1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (37): CDPF1 (Two-hybrid), CDPF1 (Affinity Capture-MS), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid), CDPF1 (Two-hybrid)
ESM2 similar proteins: A1L2W7, B4GH42, B5E0H4, P06428, P06463, P09543, P13233, P16330, P19709, P19710, P21735, P22158, P22422, P24836, P25484, P26554, P26555, P27229, P28831, P28832, P30734, P36800, P36801, P36803, P36805, P36807, P36809, P36810, P36812, P36815, P50810, P54667, Q02269, Q0VCH3, Q5RFD0, Q5RFL4, Q5XI06, Q5XUN4, Q5ZKB8, Q62240
Diamond homologs: A1L2W7, Q0VCH3, Q5RGZ1, Q5ZKB8, Q6NVV7, Q8R3A2, Q9VHN3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
76 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 13 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2582285 | NM_000389.5(CDKN1A):c.142C>T (p.Arg48Ter) | Pathogenic |
SpliceAI
1267 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:46247105:CCCA:C | donor_gain | 1.0000 |
| 22:46247123:ACCAG:A | donor_gain | 1.0000 |
| 22:46247124:CCAGC:C | donor_gain | 1.0000 |
| 22:46247127:G:A | donor_gain | 1.0000 |
| 22:46247140:A:AC | donor_gain | 1.0000 |
| 22:46247141:C:CC | donor_gain | 1.0000 |
| 22:46247222:C:CC | acceptor_gain | 1.0000 |
| 22:46248170:A:AC | donor_gain | 1.0000 |
| 22:46248171:C:CC | donor_gain | 1.0000 |
| 22:46248171:CA:C | donor_gain | 1.0000 |
| 22:46245238:CCT:C | acceptor_gain | 0.9900 |
| 22:46245240:T:C | acceptor_gain | 0.9900 |
| 22:46247104:AC:A | donor_gain | 0.9900 |
| 22:46247105:CC:C | donor_gain | 0.9900 |
| 22:46247217:GGAGG:G | acceptor_gain | 0.9900 |
| 22:46247218:GAGG:G | acceptor_gain | 0.9900 |
| 22:46247219:AGGCT:A | acceptor_loss | 0.9900 |
| 22:46247220:GG:G | acceptor_gain | 0.9900 |
| 22:46247223:T:C | acceptor_loss | 0.9900 |
| 22:46248170:ACAC:A | donor_gain | 0.9900 |
| 22:46248171:CACC:C | donor_gain | 0.9900 |
| 22:46245215:C:G | acceptor_gain | 0.9800 |
| 22:46245239:C:CC | acceptor_gain | 0.9800 |
| 22:46247104:A:AC | donor_gain | 0.9800 |
| 22:46247105:C:CC | donor_gain | 0.9800 |
| 22:46247219:AGG:A | acceptor_gain | 0.9800 |
| 22:46248171:CACCA:C | donor_gain | 0.9800 |
| 22:46248282:CATCT:C | acceptor_loss | 0.9800 |
| 22:46248284:TC:T | acceptor_loss | 0.9800 |
| 22:46248285:C:CA | acceptor_loss | 0.9800 |
AlphaMissense
800 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:46245224:G:C | F80L | 0.991 |
| 22:46245224:G:T | F80L | 0.991 |
| 22:46245226:A:G | F80L | 0.991 |
| 22:46245230:A:C | S78R | 0.984 |
| 22:46245230:A:T | S78R | 0.984 |
| 22:46245232:T:G | S78R | 0.984 |
| 22:46248246:A:C | F13L | 0.980 |
| 22:46248246:A:T | F13L | 0.980 |
| 22:46248248:A:G | F13L | 0.980 |
| 22:46245209:G:C | F85L | 0.979 |
| 22:46245209:G:T | F85L | 0.979 |
| 22:46245211:A:G | F85L | 0.979 |
| 22:46245173:A:C | F97L | 0.974 |
| 22:46245173:A:T | F97L | 0.974 |
| 22:46245175:A:G | F97L | 0.974 |
| 22:46247206:G:C | S43R | 0.974 |
| 22:46247206:G:T | S43R | 0.974 |
| 22:46247208:T:G | S43R | 0.974 |
| 22:46247185:G:C | F50L | 0.973 |
| 22:46247185:G:T | F50L | 0.973 |
| 22:46247187:A:G | F50L | 0.973 |
| 22:46247121:A:G | C72R | 0.970 |
| 22:46245208:A:G | C86R | 0.968 |
| 22:46245235:A:G | C77R | 0.967 |
| 22:46245174:A:G | F97S | 0.966 |
| 22:46245174:A:C | F97C | 0.964 |
| 22:46245210:A:G | F85S | 0.964 |
| 22:46245225:A:G | F80S | 0.962 |
| 22:46245234:C:G | C77S | 0.962 |
| 22:46245235:A:T | C77S | 0.962 |
dbSNP variants (sampled 300 via entrez): RS1000444257 (22:46245824 C>G,T), RS1000732227 (22:46245595 G>A,C), RS1000757257 (22:46251183 G>A), RS1000889451 (22:46250058 G>T), RS1000941102 (22:46249757 G>A,C,T), RS1001182830 (22:46244584 A>G), RS1001274822 (22:46248654 C>T), RS1002218743 (22:46249143 G>A), RS1002793055 (22:46247178 C>T), RS1002873310 (22:46250882 C>T), RS1002927253 (22:46250738 G>A), RS1003131369 (22:46245913 C>T), RS1003262682 (22:46250001 G>A), RS1003500463 (22:46251064 C>G,T), RS1003855805 (22:46251220 C>T)
Disease associations
OMIM: gene `` | disease phenotypes: MIM:109800
GenCC curated gene-disease
Mondo (1): urinary bladder cancer (MONDO:0001187)
Orphanet (1): NON RARE IN EUROPE: Bladder cancer (Orphanet:157980)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
63 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000561_11 | Electrocardiographic traits | 3.000000e-10 |
| GCST000872_2 | QRS duration | 3.000000e-27 |
| GCST001544_1 | Colorectal cancer | 1.000000e-10 |
| GCST001893_4 | Electrocardiographic conduction measures | 5.000000e-25 |
| GCST002533_4 | QRS duration | 4.000000e-07 |
| GCST003598_20 | QRS duration | 6.000000e-29 |
| GCST003598_47 | QRS duration | 2.000000e-26 |
| GCST003661_22 | Triglycerides | 6.000000e-07 |
| GCST003844_45 | QRS duration | 1.000000e-37 |
| GCST003871_9 | QRS complex (Cornell) | 1.000000e-09 |
| GCST004645_1 | Left ventricular fractional shortening | 3.000000e-06 |
| GCST005194_219 | Coronary artery disease | 1.000000e-06 |
| GCST005195_81 | Coronary artery disease | 3.000000e-08 |
| GCST006061_4 | Atrial fibrillation | 8.000000e-11 |
| GCST006061_72 | Atrial fibrillation | 7.000000e-11 |
| GCST006066_9 | Glaucoma (primary open-angle) | 4.000000e-09 |
| GCST006414_142 | Atrial fibrillation | 1.000000e-13 |
| GCST006629_54 | Pulse pressure | 3.000000e-18 |
| GCST007227_3 | QRS duration | 4.000000e-25 |
| GCST007269_267 | Pulse pressure | 4.000000e-16 |
| GCST007552_28 | Colorectal cancer | 1.000000e-06 |
| GCST007856_89 | Colorectal cancer or advanced adenoma | 9.000000e-08 |
| GCST008054_14 | QRS duration | 1.000000e-18 |
| GCST008054_20 | QRS duration | 5.000000e-20 |
| GCST008422_6 | QRS duration | 2.000000e-19 |
| GCST009541_4 | Heart failure | 7.000000e-09 |
| GCST009869_54 | Colorectal cancer | 2.000000e-06 |
| GCST010173_131 | Triglyceride levels | 2.000000e-10 |
| GCST010244_99 | Triglyceride levels | 4.000000e-09 |
| GCST010320_133 | PR interval | 1.000000e-12 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005054 | QRS complex |
| EFO:0004530 | triglyceride measurement |
| EFO:0007742 | QRS amplitude |
| EFO:0008206 | left ventricular systolic function measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004462 | PR interval |
| EFO:0004327 | electrocardiography |
| EFO:0007885 | JT interval |
| EFO:0010556 | Left ventricular mass to end-diastolic volume ratio |
| EFO:0008205 | left ventricular structural measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, increases methylation | 2 |
| bisphenol F | affects cotreatment, increases methylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Particulate Matter | increases expression | 1 |
Clinical trials (associated diseases)
42 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00384891 | PHASE3 | TERMINATED | Hyperthermia Treatment in Conjunction With Mitomycin C Versus Bacillus Calmette-Guérin Immunotherapy (BCG) for Superficial Bladder Cancer |
| NCT03335059 | PHASE3 | TERMINATED | Mitomycin C Intravesical Chemotherapy in Conjunction With Synergo® Radiofrequency-Induced Hyperthermia for Treatment of Carcinoma in Situ Non-Muscle Invasive Bladder Cancer Patients Unresponsive to Bacillus Calmette-Guérin, With or Without Papillary Tumors. |
| NCT04534075 | PHASE3 | COMPLETED | Dietary Fiber During Radiotherapy - a Placebo-controlled Randomized Trial |
| NCT05822934 | PHASE3 | ACTIVE_NOT_RECRUITING | Carboplatin-gemcitabine Versus Cisplatin- Gemcitabine as Neoadjuvant Chemotherapy for Treatment of Muscle Invasive Urinary Bladder Cancer |
| NCT00462488 | PHASE2 | COMPLETED | Study of Vicinium for Treating Patients With Non-Invasive Urothelial Carcinoma In Situ |
| NCT01374789 | PHASE2 | TERMINATED | PURO Panitumumab in Combination With Gemcitabine/Cisplatin in Advanced Urothelial Cancer |
| NCT03529890 | PHASE2 | UNKNOWN | Radio-Immunotherapy Before Cystectomy in Locally Advanced Urothelial Carcinoma of the Bladder |
| NCT04066894 | PHASE2 | TERMINATED | Sacral Nerve Stimulation in Treating Low Anterior Resection Syndrome or Fecal Incontinence in Patients With Locally Advanced Rectal Cancer or Other Pelvic Cancer, the RESTORE Study |
| NCT04861584 | PHASE2 | RECRUITING | Neoadjuvant Toripalimab in Combination with Gemcitabine and Cisplatin Therapy in Local Advanced Bladder Cancer Subjects |
| NCT05072600 | PHASE2 | RECRUITING | Pembrolizumab Monotherapy Following Tri-modality Treatment for Selected Patients With Muscle-invasive Bladder Cancer |
| NCT05644041 | PHASE2 | RECRUITING | Intravesical Gem/Doce in Patients With NMIBC |
| NCT06290687 | PHASE2 | RECRUITING | Partial Cystectomy & Extended Pelvic Lymph Node Dissection With SOC Perioperative Systemic Therapy |
| NCT06822010 | PHASE2 | RECRUITING | SeqUential GeMcitabine and MITomycin Treatment for Favorable High-Risk Upper Urinary Tract Urothelial Carcinoma |
| NCT07184021 | PHASE2 | NOT_YET_RECRUITING | Neoadjuvent Dose-dense Gemcitabine and Cisplatin In Muscle Invasive Bladder Cancer |
| NCT02437539 | PHASE1 | COMPLETED | Evaluation of a New Radiotracer (68Ga-NOTA-AE105) for Diagnosing Aggressive Cancer With Positron Emission Tomography |
| NCT02720367 | PHASE1 | COMPLETED | Safety and Tolerability of TAR-200 mg in Subjects With Non-Muscle-Invasive Bladder Cancer |
| NCT02722538 | PHASE1 | COMPLETED | Safety and Tolerability of GemRIS 225 mg in Subjects With Muscle-Invasive Bladder Cancer |
| NCT02897765 | PHASE1 | COMPLETED | A Personal Cancer Vaccine (NEO-PV-01) w/ Nivolumab for Patients With Melanoma, Lung Cancer or Bladder Cancer |
| NCT03132922 | PHASE1 | ACTIVE_NOT_RECRUITING | MAGE-A4ᶜ¹º³²T for Multi-Tumor |
| NCT03636256 | PHASE1/PHASE2 | COMPLETED | Evaluation of NanoDoce® in Participants With Urothelial Carcinoma |
| NCT03844256 | PHASE1/PHASE2 | RECRUITING | A Study of Mitomycin-c/ Capecitabine ChemoRadiotherapy Combined With Nivolumab Monotherapy or Ipilumimab and Nivolumab, as Bladder Sparing Curative Treatment for Muscle Invasive Bladder Cancer: the CRIMI Study |
| NCT02139371 | EARLY_PHASE1 | COMPLETED | Evaluation of a New Radiotracer (64Cu-DOTA-AE105) for Diagnosing Aggressive Cancer With Positron Emission Tomography |
| NCT00872495 | Not specified | RECRUITING | Evaluation of Non-Invasive Assays for the Detection of Urothelial Cancer |
| NCT01836978 | Not specified | COMPLETED | Prehabilitation to Enhance Postoperative Functional Capacity Following Radical Cystectomy |
| NCT02228330 | Not specified | UNKNOWN | Prospective Clinical Trial - Obturator Reflex Predictors and Blockage |
| NCT03433924 | Not specified | COMPLETED | An Epidemiologic Study on PD-L1 Expression Combined With Clinical Observation in the Chinese MIUBC Patients. |
| NCT03998579 | Not specified | COMPLETED | Physical Rehabilitation Among Patients Undergoing Radical Cystectomy Due to Urinary Bladder Cancer |
| NCT04525781 | Not specified | UNKNOWN | Clinicoepidimiological Study and Clinical Outcome in Patients With Urinary Bladder Cancer |
| NCT04635566 | Not specified | COMPLETED | Pharmacological Enhancement for Nocturnal Incontinence in Orthotopic Bladder Substitute |
| NCT04718948 | Not specified | UNKNOWN | Multimodal Spectroscopy to Detect Urothelial Cancer in Urine |
| NCT04812145 | Not specified | UNKNOWN | Role of Hypofractionated Radiotherapy With Concurrent Gemcitabine in Treatment of Urinary Bladder Carcinoma |
| NCT05335707 | Not specified | WITHDRAWN | Longitudinal Geriatric Assessment to Optimize Outcomes of Older Patients With Muscle-Invasive Bladder Cancer After Radical Cystectomy |
| NCT05621837 | Not specified | RECRUITING | Quantifying Systemic Immunosuppression to Personalize Cancer Therapy |
| NCT05787938 | Not specified | UNKNOWN | Role of MRI in Assessment of the Urinary Bladder Wall Post Transurethral Tumor Resection |
| NCT05946369 | Not specified | COMPLETED | Neutrophils to Lymphocytes Ratio in Predicting the Response to BCG in Non-muscle Invasive Bladder Cancer |
| NCT06115434 | Not specified | UNKNOWN | Comparing Operative, Postoperative and Quality of Life of Patients After Salvage and Radical Cystectomy |
| NCT06156787 | Not specified | COMPLETED | Patterns of Urinary Bladder Cancer in Darfur, Suda |
| NCT06307704 | Not specified | ACTIVE_NOT_RECRUITING | Lung US for PEEP Optimization in Robotic Radical Prostatectomy or Cystectomy Patients |
| NCT06582849 | Not specified | COMPLETED | Enhanced Assistance During Radiotherapy for Unmet Essential Needs |
| NCT06675656 | Not specified | NOT_YET_RECRUITING | Predictive Role of Microbiome in Patients With Urothelial Carcinoma |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): abdominal aortic aneurysm, colorectal adenoma, heart failure, urinary bladder cancer