DDX60
gene geneOn this page
Also known as FLJ20035
Summary
DDX60 (DExD/H-box helicase 60, HGNC:25942) is a protein-coding gene on chromosome 4q32.3, encoding Probable ATP-dependent RNA helicase DDX60 (Q8IY21). Positively regulates RIGI- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection.
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling.
Source: NCBI Gene 55601 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 243 total — 1 pathogenic
- MANE Select transcript:
NM_017631
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25942 |
| Approved symbol | DDX60 |
| Name | DExD/H-box helicase 60 |
| Location | 4q32.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20035 |
| Ensembl gene | ENSG00000137628 |
| Ensembl biotype | protein_coding |
| OMIM | 613974 |
| Entrez | 55601 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 8 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000393743, ENST00000505393, ENST00000507815, ENST00000511317, ENST00000513997, ENST00000514995, ENST00000679510, ENST00000679744, ENST00000680771, ENST00000680917, ENST00000680998, ENST00000681832, ENST00000902212, ENST00000902213, ENST00000902214, ENST00000953223
RefSeq mRNA: 2 — MANE Select: NM_017631
NM_001410861, NM_017631
CCDS: CCDS34097, CCDS93666
Canonical transcript exons
ENST00000393743 — 38 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000929945 | 168267841 | 168267983 |
| ENSE00000929946 | 168267582 | 168267691 |
| ENSE00000929952 | 168237286 | 168237427 |
| ENSE00000929953 | 168236252 | 168236373 |
| ENSE00000929954 | 168225529 | 168225676 |
| ENSE00000929956 | 168224243 | 168224385 |
| ENSE00000929959 | 168221730 | 168221881 |
| ENSE00001015918 | 168220655 | 168220717 |
| ENSE00001015920 | 168216294 | 168217032 |
| ENSE00001295396 | 168252509 | 168252656 |
| ENSE00001312372 | 168250954 | 168251106 |
| ENSE00001364824 | 168318622 | 168318752 |
| ENSE00002433522 | 168293787 | 168293945 |
| ENSE00002439367 | 168246418 | 168246618 |
| ENSE00002450014 | 168310998 | 168311067 |
| ENSE00002454099 | 168237691 | 168237795 |
| ENSE00002461456 | 168285393 | 168285498 |
| ENSE00002463487 | 168275345 | 168275503 |
| ENSE00002474531 | 168288174 | 168288315 |
| ENSE00002475049 | 168273934 | 168274083 |
| ENSE00002486503 | 168284820 | 168284935 |
| ENSE00002494666 | 168308006 | 168308195 |
| ENSE00002495984 | 168302300 | 168302416 |
| ENSE00002500208 | 168273279 | 168273398 |
| ENSE00002501435 | 168306379 | 168306720 |
| ENSE00002504722 | 168280335 | 168280590 |
| ENSE00002505513 | 168268854 | 168268969 |
| ENSE00002506699 | 168283446 | 168283606 |
| ENSE00002510689 | 168272043 | 168272138 |
| ENSE00002512946 | 168248188 | 168248292 |
| ENSE00002526419 | 168291748 | 168291906 |
| ENSE00002534059 | 168276015 | 168276181 |
| ENSE00002534288 | 168287048 | 168287203 |
| ENSE00002727583 | 168311256 | 168311365 |
| ENSE00003470579 | 168260865 | 168260989 |
| ENSE00003578553 | 168255711 | 168255869 |
| ENSE00003644473 | 168262683 | 168262787 |
| ENSE00003675994 | 168262000 | 168262128 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 94.81.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3894 / max 1810.1230, expressed in 1465 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 54756 | 6.8942 | 699 |
| 54757 | 4.3611 | 1307 |
| 54755 | 0.1341 | 61 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 94.81 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.36 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.14 | gold quality |
| decidua | UBERON:0002450 | 93.62 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.87 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.92 | gold quality |
| rectum | UBERON:0001052 | 90.26 | gold quality |
| parietal pleura | UBERON:0002400 | 89.78 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.77 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 89.40 | gold quality |
| pleura | UBERON:0000977 | 89.15 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.87 | gold quality |
| visceral pleura | UBERON:0002401 | 88.72 | gold quality |
| bronchial epithelial cell | CL:0002328 | 88.07 | gold quality |
| duodenum | UBERON:0002114 | 87.46 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.96 | gold quality |
| leukocyte | CL:0000738 | 86.66 | gold quality |
| monocyte | CL:0000576 | 86.50 | gold quality |
| mononuclear cell | CL:0000842 | 86.49 | gold quality |
| placenta | UBERON:0001987 | 85.68 | gold quality |
| transverse colon | UBERON:0001157 | 85.57 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.48 | gold quality |
| upper leg skin | UBERON:0004262 | 85.17 | gold quality |
| ventricular zone | UBERON:0003053 | 85.12 | gold quality |
| seminal vesicle | UBERON:0000998 | 84.81 | gold quality |
| gall bladder | UBERON:0002110 | 84.68 | gold quality |
| bronchus | UBERON:0002185 | 84.62 | gold quality |
| skin of hip | UBERON:0001554 | 84.60 | gold quality |
| large intestine | UBERON:0000059 | 84.56 | gold quality |
| granulocyte | CL:0000094 | 84.49 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | yes | 1315.77 |
| E-ANND-3 | yes | 5.42 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting DDX60, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| 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-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-3128 | 99.50 | 67.85 | 1258 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-297 | 99.40 | 69.58 | 1418 |
| HSA-MIR-1244 | 99.33 | 68.38 | 832 |
| HSA-MIR-664A-3P | 99.22 | 71.08 | 2696 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-942-3P | 98.81 | 69.04 | 876 |
| HSA-MIR-606 | 98.72 | 67.34 | 960 |
| HSA-MIR-496 | 98.66 | 69.80 | 931 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6509-3P | 98.32 | 67.33 | 1343 |
| HSA-MIR-4704-3P | 98.28 | 69.33 | 1300 |
Literature-anchored findings (GeneRIF, showing 8)
- DDX60 is a novel antiviral helicase promoting RIG-I-like receptor-mediated signaling. (PMID:21791617)
- Results define DDX60 as a sentinel for cytoplasmic antiviral response, which is counteracted by virus-mediated EGF receptor activation. (PMID:25981042)
- DDX60 is a novel and unfavorable biomarker for tumorigenesis and prognosis of oral squamous cell carcinoma in a subsite-specific manner (PMID:27835882)
- Glomerular endothelial expression of type I IFN-stimulated gene, DExD/H-Box helicase 60 via toll-like receptor 3 signaling: possible involvement in the pathogenesis of lupus nephritis. (PMID:35392757)
- Integrative Bioinformatics Analysis Identifies DDX60 as a Potential Biomarker for Systemic Lupus Erythematosus. (PMID:36655136)
- Possible involvement of DExD/H box helicase 60 in synovial inflammation of rheumatoid arthritis: role of toll-like receptor 3 signaling. (PMID:38236450)
- DDX60 Promotes Migration and Invasion of Head and Neck Squamous Cell Carcinoma Cell through the NF-kappaB/IFI27 Signaling Pathway. (PMID:38287816)
- Oncogenic KRAS drives immunosuppression of colorectal cancer by impairing DDX60-mediated dsRNA accumulation and viral mimicry. (PMID:39365875)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Ddx60 | ENSMUSG00000037921 |
| rattus_norvegicus | LOC134478918 | ENSRNOG00000056947 |
| rattus_norvegicus | Ddx60 | ENSRNOG00000059097 |
Paralogs (8): MTREX (ENSG00000039123), POLQ (ENSG00000051341), ASCC3 (ENSG00000112249), SNRNP200 (ENSG00000144028), HFM1 (ENSG00000162669), HELQ (ENSG00000163312), DDX60L (ENSG00000181381), SKIC2 (ENSG00000204351)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DDX60 — Q8IY21 (reviewed: Q8IY21)
Alternative names: DEAD box protein 60
All UniProt accessions (8): Q8IY21, A0A3G9HN97, A0A7P0T8Y0, A0A7P0T9W8, A0A7P0TAZ7, D6R944, H0Y8Z7, H0Y9B2
UniProt curated annotations — full annotation on UniProt →
Function. Positively regulates RIGI- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of RIGI to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV).
Subunit / interactions. Interacts with EXOSC1, EXOSC4, RIGI, IFIH1/MDA5 and DHX58/LGP2.
Subcellular location. Cytoplasm.
Tissue specificity. Brain, lymph node, prostate, stomach, thyroid, tongue, trachea, uterus, skeletal muscle, spleen, kidney, liver and small intestine.
Induction. By interferon (IFN). Up-regulated during vesicular stomatitis virus (VSV), or poliovirus (PV) infection.
Similarity. Belongs to the helicase family.
RefSeq proteins (2): NP_001397790, NP_060101* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001650 | Helicase_C-like | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR052431 | SKI2_subfamily_helicases | Family |
| IPR055124 | PIN-like_DDX60 | Domain |
| IPR059032 | WHD_DDX60 | Domain |
Pfam: PF00270, PF00271, PF23002, PF26076, PF26167
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (11 total): sequence conflict 4, domain 2, sequence variant 2, chain 1, short sequence motif 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IY21-F1 | 82.54 | 0.32 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (1): 785–792
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 331 (showing top):
WALLACE_PROSTATE_CANCER_RACE_UP, chr4q32, MODULE_255, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_317, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, IRF7_01, GOBP_REGULATION_OF_IMMUNE_RESPONSE, ONKEN_UVEAL_MELANOMA_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, WANG_LMO4_TARGETS_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_REGULATION_OF_RESPONSE_TO_STRESS
GO Biological Process (6): response to virus (GO:0009615), innate immune response (GO:0045087), defense response to virus (GO:0051607), positive regulation of MDA-5 signaling pathway (GO:1900245), positive regulation of RIG-I signaling pathway (GO:1900246), immune system process (GO:0002376)
GO Molecular Function (12): double-stranded DNA binding (GO:0003690), RNA helicase activity (GO:0003724), double-stranded RNA binding (GO:0003725), single-stranded RNA binding (GO:0003727), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), helicase activity (GO:0004386), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), intermediate filament cytoskeleton (GO:0045111)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of pattern recognition receptor signaling pathway | 2 |
| positive regulation of intracellular signal transduction | 2 |
| RNA binding | 2 |
| ATP-dependent activity | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| response to other organism | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| defense response | 1 |
| response to virus | 1 |
| positive regulation of immune effector process | 1 |
| MDA-5 signaling pathway | 1 |
| regulation of MDA-5 signaling pathway | 1 |
| RIG-I signaling pathway | 1 |
| regulation of RIG-I signaling pathway | 1 |
| biological_process | 1 |
| DNA binding | 1 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| nucleic acid binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
1931 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX60 | RIGI | O95786 | 963 |
| DDX60 | IFIH1 | Q9BYX4 | 940 |
| DDX60 | DHX58 | Q96C10 | 792 |
| DDX60 | IFIT1 | P09914 | 753 |
| DDX60 | OASL | Q15646 | 745 |
| DDX60 | ISG15 | P05161 | 727 |
| DDX60 | IFIT3 | O14879 | 718 |
| DDX60 | IFIT2 | P09913 | 718 |
| DDX60 | OAS1 | P00973 | 704 |
| DDX60 | DHX36 | Q9H2U1 | 692 |
| DDX60 | DHX29 | Q7Z478 | 674 |
| DDX60 | HERC5 | Q9UII4 | 664 |
| DDX60 | IFI44 | Q8TCB0 | 622 |
| DDX60 | DDX1 | Q92499 | 618 |
| DDX60 | MX1 | P20591 | 614 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EIF3E | DDX60 | psi-mi:“MI:0915”(physical association) | 0.500 |
| rep | DDX60 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DDX60 | NFYC | psi-mi:“MI:0915”(physical association) | 0.400 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| M6pr | DPM1 | psi-mi:“MI:0914”(association) | 0.350 |
| Smchd1 | SETD1A | psi-mi:“MI:0914”(association) | 0.350 |
| Smchd1 | SRRM1 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK2AP1 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| FYCO1 | RFT1 | psi-mi:“MI:0914”(association) | 0.350 |
| SORT1 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
| CD74 | psi-mi:“MI:0914”(association) | 0.350 | |
| DDX60 | G6PD | psi-mi:“MI:0914”(association) | 0.350 |
| TP53 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| TRAF3 | POLA1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX60 | USP19 | psi-mi:“MI:0914”(association) | 0.350 |
| ATF3 | C11orf98 | psi-mi:“MI:0914”(association) | 0.350 |
| tktA | DDX60 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (98): DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Affinity Capture-MS), DDX60 (Synthetic Lethality), DDX60 (Affinity Capture-MS), AIFM1 (Affinity Capture-MS), AKAP8L (Affinity Capture-MS), ASCC2 (Affinity Capture-MS), ASCC3 (Affinity Capture-MS), BAG2 (Affinity Capture-MS), BAG5 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GW35, A6QNM3, B0R034, B1ANS9, B9EK06, D2KC46, D3ZY60, F1MS15, F1P065, F1REV3, O00522, O15091, O75747, P10911, P58069, Q008S8, Q14449, Q14D04, Q15283, Q32NR9, Q45GW3, Q4R366, Q4R6T7, Q5H9U9, Q5K651, Q5PQS3, Q5XGX5, Q5XIZ9, Q5ZLD2, Q60862, Q63713, Q69Z37, Q6DCF6, Q6S5J6, Q6TNJ1, Q75PQ8, Q80W71, Q86VD1, Q86YR7, Q8C5W4
Diamond homologs: A0FLQ6, O08307, O34996, O51498, O52225, O75417, P19821, P30313, P35207, P46835, P52027, P52028, P56105, P74933, P80194, Q09475, Q54XN7, Q5H9U9, Q8CGS6, Q8IY21, Q9P7T8, Q9RAA9, Q9S1G2, Q9V0A9, A2PYH4, A2RUV5, A7IB61, B6DMK2, D0KN27, D3Z4R1, E1BNG3, E7F8F4, E9PZJ8, F0NDL2, F1LNJ2, F1LPQ2, F1NTD6, O48534, O60072, O75643
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
243 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 175 |
| Likely benign | 24 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1047894 | GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) | Pathogenic |
SpliceAI
5323 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:168220714:CATC:C | acceptor_gain | 1.0000 |
| 4:168220716:TC:T | acceptor_gain | 1.0000 |
| 4:168220716:TCC:T | acceptor_loss | 1.0000 |
| 4:168220717:CC:C | acceptor_gain | 1.0000 |
| 4:168220717:CCT:C | acceptor_loss | 1.0000 |
| 4:168220718:C:CC | acceptor_gain | 1.0000 |
| 4:168220718:CTAAA:C | acceptor_loss | 1.0000 |
| 4:168220719:T:C | acceptor_loss | 1.0000 |
| 4:168221725:CATA:C | donor_loss | 1.0000 |
| 4:168221726:ATACC:A | donor_loss | 1.0000 |
| 4:168221727:TA:T | donor_loss | 1.0000 |
| 4:168221728:A:AC | donor_gain | 1.0000 |
| 4:168221728:ACCT:A | donor_loss | 1.0000 |
| 4:168221729:C:A | donor_loss | 1.0000 |
| 4:168221729:C:CC | donor_gain | 1.0000 |
| 4:168221877:GTAAC:G | acceptor_gain | 1.0000 |
| 4:168221878:TAAC:T | acceptor_gain | 1.0000 |
| 4:168221882:C:CC | acceptor_gain | 1.0000 |
| 4:168224236:CACT:C | donor_loss | 1.0000 |
| 4:168224237:ACTT:A | donor_loss | 1.0000 |
| 4:168224238:CTTA:C | donor_loss | 1.0000 |
| 4:168224239:TTACA:T | donor_loss | 1.0000 |
| 4:168224240:T:TG | donor_loss | 1.0000 |
| 4:168224241:A:AC | donor_gain | 1.0000 |
| 4:168224241:A:T | donor_loss | 1.0000 |
| 4:168224242:C:CA | donor_loss | 1.0000 |
| 4:168224242:C:CC | donor_gain | 1.0000 |
| 4:168224242:CA:C | donor_gain | 1.0000 |
| 4:168224242:CATG:C | donor_gain | 1.0000 |
| 4:168224242:CATGG:C | donor_gain | 1.0000 |
AlphaMissense
11373 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:168275350:A:G | W767R | 0.999 |
| 4:168275350:A:T | W767R | 0.999 |
| 4:168246609:G:T | R1325S | 0.998 |
| 4:168248262:C:G | G1297R | 0.998 |
| 4:168273947:A:T | V814D | 0.998 |
| 4:168274016:T:A | K791I | 0.998 |
| 4:168274034:G:T | A785D | 0.998 |
| 4:168246605:G:T | A1326D | 0.997 |
| 4:168246608:C:G | R1325P | 0.997 |
| 4:168248283:C:G | A1290P | 0.997 |
| 4:168272053:A:T | I887K | 0.997 |
| 4:168274017:T:G | K791Q | 0.997 |
| 4:168275348:C:A | W767C | 0.997 |
| 4:168275348:C:G | W767C | 0.997 |
| 4:168248261:C:T | G1297D | 0.996 |
| 4:168272134:A:G | L860P | 0.996 |
| 4:168273394:A:G | L820P | 0.996 |
| 4:168273951:A:C | Y813D | 0.996 |
| 4:168273980:A:G | L803P | 0.996 |
| 4:168274015:T:A | K791N | 0.996 |
| 4:168274015:T:G | K791N | 0.996 |
| 4:168274019:C:T | G790D | 0.996 |
| 4:168274076:A:G | L771P | 0.996 |
| 4:168272053:A:C | I887R | 0.995 |
| 4:168272128:G:T | T862K | 0.995 |
| 4:168273370:A:T | V828D | 0.995 |
| 4:168273394:A:T | L820H | 0.995 |
| 4:168274082:C:G | R769P | 0.995 |
| 4:168275345:C:A | Q768H | 0.995 |
| 4:168275345:C:G | Q768H | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000035072 (4:168258005 A>C,G), RS1000036310 (4:168284483 C>A,T), RS1000048325 (4:168242252 G>C), RS1000103846 (4:168216135 T>G), RS1000169172 (4:168218770 C>T), RS1000188282 (4:168319553 A>G), RS1000221881 (4:168309632 G>A), RS1000250182 (4:168289149 CGTT>C), RS10002662 (4:168290853 G>C), RS1000273587 (4:168233870 A>AT), RS1000283261 (4:168319262 A>G), RS10002944 (4:168291177 G>A,T), RS1000325793 (4:168253900 T>C), RS1000336727 (4:168247731 T>C), RS10003512 (4:168285748 G>A,C)
Disease associations
OMIM: gene MIM:613974 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
71 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects methylation, decreases expression | 4 |
| Valproic Acid | decreases expression | 4 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 3 |
| Nickel | decreases expression, increases expression | 3 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Silicon Dioxide | increases expression | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| tobacco tar | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1F1 | Abcam A-549 DDX60 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.