DDX59
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Also known as DKFZP564B1023ZNHIT5
Summary
DDX59 (DEAD-box helicase 59, HGNC:25360) is a protein-coding gene on chromosome 1q32.1, encoding Probable ATP-dependent RNA helicase DDX59 (Q5T1V6). It is a common-essential gene (DepMap: required in 92.6% of cancer cell lines).
Predicted to enable RNA helicase activity and mRNA binding activity. Predicted to be located in cytoplasm; membrane; and nucleus. Implicated in orofaciodigital syndrome V.
Source: NCBI Gene 83479 — RefSeq curated summary.
At a glance
- Gene–disease (curated): orofaciodigital syndrome V (Strong, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 181 total — 5 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 60
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 92.6% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001031725
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25360 |
| Approved symbol | DDX59 |
| Name | DEAD-box helicase 59 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP564B1023, ZNHIT5 |
| Ensembl gene | ENSG00000118197 |
| Ensembl biotype | protein_coding |
| OMIM | 615464 |
| Entrez | 83479 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 26 protein_coding
ENST00000331314, ENST00000413408, ENST00000429498, ENST00000433235, ENST00000436897, ENST00000447706, ENST00000452560, ENST00000453944, ENST00000886515, ENST00000886516, ENST00000886517, ENST00000886518, ENST00000936158, ENST00000936159, ENST00000936160, ENST00000936161, ENST00000936162, ENST00000958770, ENST00000958771, ENST00000958772, ENST00000958773, ENST00000958774, ENST00000958775, ENST00000958776, ENST00000958777, ENST00000958778
RefSeq mRNA: 9 — MANE Select: NM_001031725
NM_001031725, NM_001320181, NM_001320182, NM_001349799, NM_001349800, NM_001349801, NM_001349802, NM_001349803, NM_001349804
CCDS: CCDS30964
Canonical transcript exons
ENST00000331314 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000796420 | 200648439 | 200648567 |
| ENSE00000796421 | 200649074 | 200649226 |
| ENSE00001827363 | 200669767 | 200669907 |
| ENSE00001909196 | 200644037 | 200644517 |
| ENSE00002284446 | 200659027 | 200659116 |
| ENSE00002349402 | 200663919 | 200664086 |
| ENSE00002707839 | 200665937 | 200666751 |
| ENSE00003489109 | 200650425 | 200650676 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 99.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6743 / max 119.1715, expressed in 1769 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16590 | 9.4673 | 1763 |
| 16589 | 0.2070 | 78 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 99.36 | gold quality |
| pancreatic ductal cell | CL:0002079 | 99.24 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.64 | gold quality |
| oocyte | CL:0000023 | 98.07 | gold quality |
| secondary oocyte | CL:0000655 | 98.02 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.94 | gold quality |
| endothelial cell | CL:0000115 | 95.85 | silver quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.82 | gold quality |
| renal medulla | UBERON:0000362 | 95.31 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.31 | silver quality |
| nipple | UBERON:0002030 | 95.08 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.08 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 94.98 | silver quality |
| superficial temporal artery | UBERON:0001614 | 94.71 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.62 | gold quality |
| pylorus | UBERON:0001166 | 94.60 | gold quality |
| globus pallidus | UBERON:0001875 | 94.45 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.45 | gold quality |
| tendon | UBERON:0000043 | 94.38 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.38 | gold quality |
| upper arm skin | UBERON:0004263 | 94.38 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.29 | gold quality |
| medial globus pallidus | UBERON:0002477 | 94.26 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.22 | gold quality |
| trachea | UBERON:0003126 | 94.16 | gold quality |
| medulla oblongata | UBERON:0001896 | 94.15 | gold quality |
| vena cava | UBERON:0004087 | 93.89 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.81 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 93.78 | gold quality |
| pericardium | UBERON:0002407 | 93.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.00 |
| E-GEOD-110499 | no | 494.38 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 92.6% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 5)
- These data strongly implicate DDX59 RNA helicase family member in the pathogenesis of orofaciodigital syndrome. (PMID:23972372)
- The novel DDX59 mutation is associated with oral-facial-digital syndrome. (PMID:28711741)
- Analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. (PMID:29127725)
- Study presents evidence that DDX59 protein can be upregulated by MEK/ERK/MAP kinase pathway downstream of EGFR and Ras signaling. Increased expression of DDX59 mediates the tumorigenecity of EGFR and Ras in lung cancer. (PMID:29133145)
- MicroRNA-628-5p inhibits cell proliferation in glioma by targeting DDX59. (PMID:31111544)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddx59 | ENSDARG00000022177 |
| mus_musculus | Ddx59 | ENSMUSG00000026404 |
| rattus_norvegicus | Ddx59 | ENSRNOG00000042451 |
Paralogs (38): DDX20 (ENSG00000064703), DDX3Y (ENSG00000067048), DDX1 (ENSG00000079785), DDX43 (ENSG00000080007), DDX18 (ENSG00000088205), DDX24 (ENSG00000089737), DDX17 (ENSG00000100201), DDX49 (ENSG00000105671), DDX50 (ENSG00000107625), DDX5 (ENSG00000108654), DDX25 (ENSG00000109832), DDX6 (ENSG00000110367), DDX55 (ENSG00000111364), DDX54 (ENSG00000123064), DDX39A (ENSG00000123136), DDX27 (ENSG00000124228), DDX31 (ENSG00000125485), DDX56 (ENSG00000136271), EIF4A3 (ENSG00000141543), DDX46 (ENSG00000145833), DDX4 (ENSG00000152670), EIF4A2 (ENSG00000156976), DDX19B (ENSG00000157349), EIF4A1 (ENSG00000161960), DDX21 (ENSG00000165732), DDX19A (ENSG00000168872), TDRD12 (ENSG00000173809), DDX23 (ENSG00000174243), DDX10 (ENSG00000178105), DDX28 (ENSG00000182810), DDX41 (ENSG00000183258), DDX53 (ENSG00000184735), DDX51 (ENSG00000185163), DDX42 (ENSG00000198231), DDX39B (ENSG00000198563), DDX47 (ENSG00000213782), DDX3X (ENSG00000215301), DDX52 (ENSG00000278053)
Protein
Protein identifiers
Probable ATP-dependent RNA helicase DDX59 — Q5T1V6 (reviewed: Q5T1V6)
Alternative names: DEAD box protein 59, Zinc finger HIT domain-containing protein 5
All UniProt accessions (7): B7ZBU3, B7ZBU4, Q5T1V6, H0Y6Y1, H0Y7Z8, Q5T1V5, Q5T1W1
UniProt curated annotations — full annotation on UniProt →
Subunit / interactions. Interacts (via HIT-type zinc finger) with the RUVBL1/RUVBL2 complex in the presence of ADP.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Expressed in fibroblasts (at protein level).
Disease relevance. Orofaciodigital syndrome 5 (OFD5) [MIM:174300] A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD5 patients show the core features of cleft palate, lobulated tongue, and polydactyly. Additional features include frontal bossing and intellectual disability. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The Q motif is unique to and characteristic of the DEAD box family of RNA helicases and controls ATP binding and hydrolysis.
Similarity. Belongs to the DEAD box helicase family. DDX59 subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T1V6-1 | 1 | yes |
| Q5T1V6-2 | 2 |
RefSeq proteins (9): NP_001026895, NP_001307110, NP_001307111, NP_001336728, NP_001336729, NP_001336730, NP_001336731, NP_001336732, NP_001336733 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001650 | Helicase_C-like | Domain |
| IPR007529 | Znf_HIT | Domain |
| IPR011545 | DEAD/DEAH_box_helicase_dom | Domain |
| IPR014001 | Helicase_ATP-bd | Domain |
| IPR014014 | RNA_helicase_DEAD_Q_motif | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR050079 | DEAD_box_RNA_helicase | Family |
Pfam: PF00270, PF00271, PF04438
Catalyzed reactions (Rhea), 1 shown:
- ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)
UniProt features (26 total): sequence variant 5, modified residue 4, strand 4, domain 2, region of interest 2, short sequence motif 2, chain 1, cross-link 1, splice variant 1, helix 1, zinc finger region 1, compositionally biased region 1, binding site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2YQP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T1V6-F1 | 77.71 | 0.46 |
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): 247–254
Post-translational modifications (5): 64, 76, 156, 160, 26
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 243 (showing top):
PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_MRNA_BINDING, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, LIU_COMMON_CANCER_GENES, GSE13762_CTRL_VS_125_VITAMIND_DAY5_DC_DN, GOMF_ATP_HYDROLYSIS_ACTIVITY, GOMF_ADENYL_NUCLEOTIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, BRUINS_UVC_RESPONSE_LATE, ZWANG_CLASS_1_TRANSIENTLY_INDUCED_BY_EGF, GOMF_CATALYTIC_ACTIVITY_ACTING_ON_RNA, GOMF_ATP_DEPENDENT_ACTIVITY_ACTING_ON_RNA, BARX1_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (11): RNA helicase activity (GO:0003724), mRNA binding (GO:0003729), ATP binding (GO:0005524), zinc ion binding (GO:0008270), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), RNA binding (GO:0003723), helicase activity (GO:0004386), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ATP-dependent activity | 2 |
| cellular anatomical structure | 2 |
| helicase activity | 1 |
| ATP-dependent activity, acting on RNA | 1 |
| catalytic activity, acting on RNA | 1 |
| RNA binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| transition metal ion binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| nucleic acid binding | 1 |
| nucleic acid conformation isomerase activity | 1 |
| catalytic activity, acting on a nucleic acid | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
2571 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDX59 | TBC1D32 | Q96NH3 | 571 |
| DDX59 | TCTN3 | Q6NUS6 | 570 |
| DDX59 | CPLANE1 | Q9H799 | 543 |
| DDX59 | DHX30 | Q7L2E3 | 534 |
| DDX59 | OFD1 | O75665 | 497 |
| DDX59 | TMEM216 | Q9P0N5 | 477 |
| DDX59 | TMEM231 | Q9H6L2 | 473 |
| DDX59 | INO80E | Q8NBZ0 | 471 |
| DDX59 | CAMSAP2 | Q08AD1 | 460 |
| DDX59 | DHX34 | Q14147 | 459 |
| DDX59 | SCLT1 | Q96NL6 | 456 |
| DDX59 | MRPL20 | Q9BYC9 | 454 |
| DDX59 | C5orf52 | A6NGY3 | 448 |
| DDX59 | C2CD3 | Q4AC94 | 448 |
| DDX59 | DHX16 | O60231 | 426 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDX59 | ARG2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBP5 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| LMNB2 | SPOP | psi-mi:“MI:0914”(association) | 0.350 |
| HSD17B14 | E2F6 | psi-mi:“MI:0914”(association) | 0.350 |
| MTPN | PLCG1 | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC10 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (27): DDX59 (Affinity Capture-RNA), DDX59 (Affinity Capture-RNA), DDX59 (Proximity Label-MS), DDX59 (Affinity Capture-MS), HSP90AA1 (Affinity Capture-MS), HSP90AB1 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), STIP1 (Affinity Capture-MS), DDX59 (Affinity Capture-MS), DDX59 (Negative Genetic), DDX59 (Affinity Capture-RNA), DDX59 (Negative Genetic), DDX59 (Proximity Label-MS), DDX59 (Affinity Capture-MS), DDX59 (Affinity Capture-MS)
ESM2 similar proteins: A2VD92, A5D7C1, A5DIX5, A5E1N2, A6ZU15, O16102, O74393, P23394, P45818, P54823, Q07886, Q09775, Q0DBS1, Q0IHV9, Q0IIK5, Q10202, Q19614, Q4R7L5, Q55CP6, Q5NVJ8, Q5T1V6, Q5XH91, Q641Y8, Q6AZV7, Q6C024, Q6CDS6, Q6CKI1, Q6FM43, Q7FGZ2, Q84T03, Q86TM3, Q8GXD6, Q90WU3, Q91VN6, Q91VR5, Q92499, Q9C551, Q9DBN9, Q9DF35, Q9FLB0
Diamond homologs: A1CH78, A2QI25, A3LQ01, A5DQS0, A5DZE6, A5F3R4, A6SEH9, A6ZP47, A7EJY3, A7TKR8, A8WK63, C3LQR1, C6DHF5, C8V8H4, D4ACP5, O09053, O13370, O13792, O13983, O18017, O34748, O88700, O93530, O94761, O94762, P06634, P0CQ88, P0CQ89, P15043, P35187, P40724, P46063, P50729, P54132, P71359, P73421, Q09811, Q0CLJ6, Q0ILZ4, Q0JM17
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
181 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 3 |
| Uncertain significance | 90 |
| Likely benign | 42 |
| Benign | 21 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1332918 | NM_001031725.6(DDX59):c.1859G>T (p.Ter620Leu) | Pathogenic |
| 2008692 | NM_001031725.6(DDX59):c.454C>T (p.Gln152Ter) | Pathogenic |
| 4689396 | NC_000001.10:g.(?200613164)(200613646_200617566)del | Pathogenic |
| 591043 | NM_001031725.6(DDX59):c.1136del (p.Gln379fs) | Pathogenic |
| 801603 | NM_001031725.6(DDX59):c.185del (p.Phe62fs) | Pathogenic |
| 1299500 | NM_001031725.6(DDX59):c.1597-6T>G | Likely pathogenic |
| 2769652 | NM_001031725.6(DDX59):c.804+1G>A | Likely pathogenic |
| 800916 | NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del) | Likely pathogenic |
SpliceAI
1345 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:200649088:T:A | donor_gain | 1.0000 |
| 1:200650423:A:AC | donor_gain | 1.0000 |
| 1:200650424:C:CC | donor_gain | 1.0000 |
| 1:200659025:A:AC | donor_gain | 1.0000 |
| 1:200659026:C:CC | donor_gain | 1.0000 |
| 1:200659035:C:CT | donor_gain | 1.0000 |
| 1:200659036:T:TT | donor_gain | 1.0000 |
| 1:200659113:TAAC:T | acceptor_gain | 1.0000 |
| 1:200659114:AACC:A | acceptor_loss | 1.0000 |
| 1:200659115:ACC:A | acceptor_loss | 1.0000 |
| 1:200659116:CCTAA:C | acceptor_loss | 1.0000 |
| 1:200659117:C:CC | acceptor_gain | 1.0000 |
| 1:200659118:T:C | acceptor_loss | 1.0000 |
| 1:200663913:GCTTA:G | donor_loss | 1.0000 |
| 1:200663914:CTTA:C | donor_loss | 1.0000 |
| 1:200663915:TTAC:T | donor_loss | 1.0000 |
| 1:200663916:TACCT:T | donor_loss | 1.0000 |
| 1:200663917:A:C | donor_loss | 1.0000 |
| 1:200664083:TGCT:T | acceptor_gain | 1.0000 |
| 1:200664087:C:CC | acceptor_gain | 1.0000 |
| 1:200664097:G:C | acceptor_gain | 1.0000 |
| 1:200665932:CTTA:C | donor_loss | 1.0000 |
| 1:200665934:TAC:T | donor_loss | 1.0000 |
| 1:200665935:A:AC | donor_gain | 1.0000 |
| 1:200665935:A:AT | donor_loss | 1.0000 |
| 1:200665936:C:CC | donor_gain | 1.0000 |
| 1:200665936:CCT:C | donor_gain | 1.0000 |
| 1:200666748:TATT:T | acceptor_gain | 1.0000 |
| 1:200648573:C:CT | acceptor_gain | 0.9900 |
| 1:200648574:A:T | acceptor_gain | 0.9900 |
AlphaMissense
4078 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:200648532:G:C | S501R | 0.999 |
| 1:200648532:G:T | S501R | 0.999 |
| 1:200648534:T:G | S501R | 0.999 |
| 1:200644481:C:G | A545P | 0.998 |
| 1:200648482:A:T | V518D | 0.998 |
| 1:200649195:A:T | V449E | 0.998 |
| 1:200666357:A:C | S128R | 0.998 |
| 1:200666357:A:T | S128R | 0.998 |
| 1:200666359:T:G | S128R | 0.998 |
| 1:200666419:A:G | C108R | 0.998 |
| 1:200644390:A:G | L575S | 0.997 |
| 1:200644480:G:T | A545E | 0.997 |
| 1:200644509:T:A | R535S | 0.997 |
| 1:200644509:T:G | R535S | 0.997 |
| 1:200649154:C:G | A463P | 0.997 |
| 1:200649165:A:G | L459P | 0.997 |
| 1:200650452:T:A | K429N | 0.997 |
| 1:200650452:T:G | K429N | 0.997 |
| 1:200650472:A:G | W423R | 0.997 |
| 1:200650472:A:T | W423R | 0.997 |
| 1:200659106:G:T | A328E | 0.997 |
| 1:200666350:A:G | C131R | 0.997 |
| 1:200666362:A:G | C127R | 0.997 |
| 1:200644510:C:G | R535T | 0.996 |
| 1:200648536:A:T | V500E | 0.996 |
| 1:200649162:A:G | L460S | 0.996 |
| 1:200649172:C:G | A457P | 0.996 |
| 1:200650650:A:C | F363L | 0.996 |
| 1:200650650:A:T | F363L | 0.996 |
| 1:200650652:A:G | F363L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000012685 (1:200664889 G>A), RS1000098125 (1:200669701 G>C), RS1000319232 (1:200646530 A>G), RS1000576953 (1:200654420 GA>G,GAA), RS1000655336 (1:200645207 A>G), RS1000690704 (1:200648275 C>T), RS1000833960 (1:200651818 C>T), RS1000979853 (1:200652236 T>C), RS1001099290 (1:200657674 G>A), RS1001228787 (1:200648650 A>G,T), RS1001291630 (1:200669295 C>A,G), RS1001484035 (1:200667858 T>A,C,G), RS1001534133 (1:200646187 A>G), RS1001616708 (1:200652827 T>C), RS1001668982 (1:200653064 G>A)
Disease associations
OMIM: gene MIM:615464 | disease phenotypes: MIM:174300
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| orofaciodigital syndrome V | Strong | Autosomal recessive |
Mondo (1): orofaciodigital syndrome V (MONDO:0008267)
Orphanet (1): Orofaciodigital syndrome type 5 (Orphanet:2919)
HPO phenotypes
60 total (30 of 60 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000085 | Horseshoe kidney |
| HP:0000161 | Median cleft upper lip |
| HP:0000175 | Cleft palate |
| HP:0000180 | Lobulated tongue |
| HP:0000185 | Cleft soft palate |
| HP:0000190 | Abnormal oral frenulum morphology |
| HP:0000191 | Accessory oral frenulum |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000288 | Abnormality of the philtrum |
| HP:0000303 | Mandibular prognathia |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000574 | Thick eyebrow |
| HP:0000588 | Optic disc coloboma |
| HP:0000668 | Hypodontia |
| HP:0000689 | Dental malocclusion |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001212 | Prominent fingertip pads |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001629 | Ventricular septal defect |
| HP:0001636 | Tetralogy of Fallot |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005195_41 | Coronary artery disease | 2.000000e-08 |
| GCST005196_191 | Coronary artery disease | 4.000000e-09 |
| GCST010002_373 | Refractive error | 1.000000e-52 |
| GCST012490_338 | Femur bone mineral density x serum urate levels interaction | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C557819 | Orofaciodigital syndrome 5 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465317 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 6 |
| Cyclosporine | increases expression | 3 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| titanium dioxide | increases methylation | 1 |
| dimethylselenide | increases expression, increases oxidation | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases stability | 1 |
| coumarin | affects phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| avobenzone | increases expression | 1 |
| K 7174 | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Ozone | increases expression, increases oxidation | 1 |
| Quercetin | decreases phosphorylation | 1 |
| Silicon Dioxide | decreases expression, increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Hydroxyl Radical | increases expression, increases oxidation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5391273 | Binding | Inhibition of C-terminal 6xHis-tagged human recombinant DDX59 transformed in Escherichia coli BL21(DE3)pLysS cells | Development of small molecule inhibitors targeting RNA helicase DHX33 as anti-cancer agents. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: orofaciodigital syndrome V
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): orofaciodigital syndrome V