DEK

gene
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Also known as D6S231E

Summary

DEK (DEK proto-oncogene, HGNC:2768) is a protein-coding gene on chromosome 6p22.3, encoding Protein DEK (P35659). Involved in chromatin organization.

This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 7913 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 64 total
  • Druggable target: yes — 1 molecules with ChEMBL bioactivity
  • MANE Select transcript: NM_003472

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:2768
Approved symbolDEK
NameDEK proto-oncogene
Location6p22.3
Locus typegene with protein product
StatusApproved
AliasesD6S231E
Ensembl geneENSG00000124795
Ensembl biotypeprotein_coding
OMIM125264
Entrez7913

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000244776, ENST00000503715, ENST00000505224, ENST00000507591, ENST00000512145, ENST00000515742, ENST00000515770, ENST00000651624, ENST00000651992, ENST00000652292, ENST00000652576, ENST00000652689, ENST00000852487, ENST00000852488, ENST00000852489, ENST00000852490, ENST00000852491, ENST00000852492, ENST00000852493, ENST00000919563, ENST00000919564, ENST00000919565, ENST00000943458, ENST00000943459

RefSeq mRNA: 2 — MANE Select: NM_003472 NM_001134709, NM_003472

CCDS: CCDS34344, CCDS47382

Canonical transcript exons

ENST00000652689 — 11 exons

ExonStartEnd
ENSE000008481571822617418226242
ENSE000008481581823645218236600
ENSE000008481611825636118256455
ENSE000008481621825795318258062
ENSE000016426261826384318263996
ENSE000018196501826438518264530
ENSE000035151821825573118255851
ENSE000036394921823738118237516
ENSE000036703041824965118249839
ENSE000036764211825830418258405
ENSE000038511441822386018225730

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 94.3530 / max 1399.2182, expressed in 1822 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter IDTPM avgSamples expressed
7204373.08141818
720397.32401547
720375.19541384
720452.83691320
720411.6125691
720461.3453623
720321.3006549
720420.5864307
720400.5588291
720380.3862158

Top tissues by expression

302 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370199.51gold quality
epithelium of nasopharynxUBERON:000195199.28gold quality
ventricular zoneUBERON:000305399.11gold quality
tibiaUBERON:000097998.95gold quality
ganglionic eminenceUBERON:000402398.84gold quality
embryoUBERON:000092298.55gold quality
trabecular bone tissueUBERON:000248398.54gold quality
amniotic fluidUBERON:000017398.53gold quality
germinal epithelium of ovaryUBERON:000130498.53gold quality
skin of hipUBERON:000155498.20gold quality
jejunal mucosaUBERON:000039998.17gold quality
endometrium epitheliumUBERON:000481198.17gold quality
colonic epitheliumUBERON:000039798.09gold quality
mammary ductUBERON:000176597.96gold quality
jejunumUBERON:000211597.95gold quality
mucosa of sigmoid colonUBERON:000499397.85gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451197.79gold quality
monocyteCL:000057697.71gold quality
visceral pleuraUBERON:000240197.70gold quality
mononuclear cellCL:000084297.69gold quality
colonic mucosaUBERON:000031797.68gold quality
caecumUBERON:000115397.68gold quality
epithelium of mammary glandUBERON:000324497.68gold quality
parietal pleuraUBERON:000240097.65gold quality
lower lobe of lungUBERON:000894997.65gold quality
pleuraUBERON:000097797.62gold quality
cartilage tissueUBERON:000241897.62gold quality
vermiform appendixUBERON:000115497.61gold quality
palpebral conjunctivaUBERON:000181297.60gold quality
superficial temporal arteryUBERON:000161497.57gold quality

Single-cell (SCXA)

Detected in 20 experiment(s), a significant marker in 15.

ExperimentMarker?Max mean expression
E-CURD-122yes753.19
E-CURD-114yes69.76
E-HCAD-5yes46.34
E-CURD-112yes42.23
E-HCAD-10yes40.54
E-GEOD-125970yes24.59
E-HCAD-13yes22.41
E-CURD-46yes21.80
E-HCAD-1yes19.64
E-MTAB-10042yes10.56
E-MTAB-10553yes9.43
E-CURD-88yes9.40
E-MTAB-6678yes8.47
E-HCAD-11yes7.34
E-CURD-53no1198.79

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

TargetRegulation
BCL2Activation
BIRC3Unknown
CXCL8Unknown
HLA-DQB1Unknown
PRDX5Repression

Upstream regulators (CollecTRI, top): NFKB, TFAP2A, YY1

miRNA regulators (miRDB)

157 targeting DEK, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4262100.0073.263931
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-3924100.0072.092394
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-340-5P100.0072.504437
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-4789-3P99.9970.752484
HSA-MIR-453499.9966.581907
HSA-MIR-186-5P99.9970.833707
HSA-MIR-548N99.9871.944170
HSA-MIR-3617-3P99.9867.86918
HSA-MIR-56899.9869.862084
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-1213699.9872.815713
HSA-MIR-569699.9872.364487
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-551B-5P99.9671.283493

Literature-anchored findings (GeneRIF, showing 40)

  • overexpressed in acute myeloid leukemia while translocations associated with this gene are absent (PMID:12031912)
  • Data show that Daxx associates with proteins critical for transcriptional repression, such as histone deacetylase 2 and Dek, a chromatin-associated protein reported to change the topology of DNA in chromatin in vitro. (PMID:12140263)
  • interacts with latency-associated nuclear antigen of Kaposi’s sarcoma-associated herpesvirus (KSHV) to tether KSHV to cell chromosomes (PMID:12388720)
  • analysis of regulation by mapping discrete elements within the proximal promoter that are responsible for constitutive transcription of dek in transformed cells (PMID:12483538)
  • overexpression of DEK is associated with acute myeloid leukemia (PMID:14738146)
  • C-terminal domain (amino acids 270 to 350)is able to multimerize, dependent on phosphorylation by CK2 kinase; two DNA-interacting domains differing in their binding properties and in their abilities to respond to CK2 phosphorylation were found (PMID:15199153)
  • found evidence that DEK is phosphorylated by CK2, phosphorylation sites are clustered in the C-terminal region, phosphorylated DEK is tethered to chromatin throughout the cell cycle by the un- or underphosphorylated form of DEK. (PMID:15199154)
  • Could function as an architectural protein in chromatin comparable to the better known classic architectural chromatin proteins, the high-mobility group or HMG proteins. (PMID:15563827)
  • Evidence for an rheumatoid arthritis susceptibility locus mapping under the linkage peak on 6p, 11 Mb telomeric of HLA-DRB1 implicates the gene DEK. (PMID:15593216)
  • The DNA binding properties of the SAF-box domain of DEK. (PMID:15722484)
  • results suggest that DEK and E2F3 are potential targets of 6p gains in retinoblastoma (PMID:16007192)
  • The 6p22 genomic gain present in many retinoblastoma tumors leads to DEK overexpression at the mRNA and protein level. (PMID:16180235)
  • repression of DEK message and protein levels in senescing human papillomavirus type 16- (HPV16-) and HPV18-positive cancer cell lines as well as in primary cells undergoing replicative senescence. (PMID:16254365)
  • DEK interacts with histones and exerts a potent inhibitory effect on both p300 and PCAF-mediated histone acetyltransferase activity and transcription. (PMID:16696975)
  • DEK is overexpressed in many solid tumors such as colon cancer, larynx cancer, bladder cancer, and melanoma; the DEK promoter is bound by endogenous E2F in vivo (PMID:16721057)
  • DEK enforces 3’ splice site discrimination by U2AF; DEK phosphorylated at serines 19 and 32 associates with U2AF35, facilitates the U2AF35-AG interaction and prevents binding of U2AF65 to pyrimidine tracts not followed by AG (PMID:16809543)
  • DEK functions to negatively regulate transcription of RelA/p65 (PMID:16829531)
  • suggest a novel role for DEK in cellular survival, involving the destabilization of p53 in a manner which is likely to contribute to human carcinogenesis (PMID:16894028)
  • DEK can play a direct role in inflammation by attracting neutrophils, CD8-positive T cells, and natural killer cells. (PMID:17030615)
  • Our conclusion is that DEK could serve as an architectural protein at the promoter or enhancer sites of a subfraction of human genes. (PMID:17524367)
  • acidic domain containing protein DEK might have a role in modulating both transcriptional regulation and apoptosis through HAT inhibitory activity. (PMID:17685435)
  • description of the three-dimensional structure of the N-terminal domain of DEK as determined using solution NMR; study illustrates a new structural variant and reveals novel dsDNA-binding properties for proteins containing the SAP/SAF motif (PMID:18227428)
  • DEK promotes the repair of DNA lesions and protects cells from genotoxic agents that typically trigger poly(ADP-ribose) polymerase activation. (PMID:18332104)
  • DEK plays an important role in the carcinogenesis of cervical cancers, helpful for early diagnosis, and potential therapeutic target. (PMID:18477217)
  • DEK up-regulation may contribute to carcinoma development at least in part through increased proliferation and retardation of differentiation. (PMID:19036808)
  • Overexpression of the cellular DEK protein promotes epithelial transformation in vitro and in vivo. (PMID:19223548)
  • Data demonstrate the modulation of caspase-dependent apoptosis related proteins by DEK knock-down and further implicate its role in apoptosis pathway. (PMID:19229864)
  • DEK plays an important role in the progression of ovarian serous cancers (PMID:19563407)
  • DEK is a long sought-after oncogene mapping at chromosome 6, with novel functions in melanoma proliferation and chemoresistance. (PMID:19679545)
  • In some human myeloid leukemia patients, DEK was fused to CAN by chromosomal translocation (PMID:20040570)
  • The oncogene DEK promotes leukemic cell survival and is downregulated by both Nutlin-3 and chlorambucil in B-chronic lymphocytic leukemic cells. (PMID:20215548)
  • Here we will summarize the current literature about the regulation and function(s) of DEK as a proto-oncogene. (PMID:20501624)
  • DEK overexpression, partly through an increase in its gene dose, mediates the activity of global transcriptional regulators and is associated with tumor initiation activity and poor prognosis in high grade neuroendocrine carcinoma of the lung. (PMID:20543864)
  • Using sequence alignment, the study identifies three functional poly(ADP-ribose)-binding sites in the DEK primary sequence and confirms their functionality in poly(ADP-ribose) binding studies. (PMID:20669926)
  • DEK can contribute directly to joint inflammation in juvenile idiopathic arthritis by generating ICs through high-affinity interaction between DEK and DEK autoantibodies. (PMID:21280010)
  • DEK overexpression may be a frequent event in invasive melanomas, and further augmentation of DEK expression may be associated with the acquisition of ominous features such as deep dermal invasion and metastasis. (PMID:21316078)
  • data indicate that DEK expression stimulates the growth, stem cell character and motility of breast cancer cells, and that DEK-dependent cellular invasion occurs at least in part via beta-catenin activation (PMID:21317931)
  • identify the oncoprotein DEK, an abundant nuclear protein with a previously enigmatic in vivo function, as a Suppressor of Variegation [Su(var)] that is crucial to global heterochromatin integrity (PMID:21460035)
  • DEK is important for DNA double-strand break repair. (PMID:21653549)
  • DEK protein is expressed in bladder tumor tissue and voided urine of bladder cancer patients. (PMID:21663673)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriodekENSDARG00000070108
mus_musculusDekENSMUSG00000021377
rattus_norvegicusDekENSRNOG00000016152
drosophila_melanogasterDekFBGN0026533

Protein

Protein identifiers

Protein DEKP35659 (reviewed: P35659)

All UniProt accessions (8): A0A494C028, A0A494C198, B4DFG0, D6R9L5, D6RDA2, P35659, H0Y8X0, H0Y993

UniProt curated annotations — full annotation on UniProt →

Function. Involved in chromatin organization.

Subunit / interactions. Found in a mRNA splicing-dependent exon junction complex (EJC) with DEK, RBM8A, RNPS1, SRRM1 and ALYREF/THOC4. Interacts with histones H2A, H2B, H3, H4, acetylated histone H4, non-phosphorylated DAXX and HDAC2. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Binds DNA.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous. Expressed at relatively high levels.

Post-translational modifications. Phosphorylated by CK2. Phosphorylation fluctuates during the cell cycle with a moderate peak during G(1) phase, and weakens the binding of DEK to DNA.

Disease relevance. A chromosomal aberration involving DEK is found in a subset of acute myeloid leukemia (AML); also known as acute non-lymphocytic leukemia. Translocation t(6;9)(p23;q34) with NUP214/CAN. It results in the formation of a DEK-NUP214 fusion gene.

Isoforms (2)

UniProt IDNamesCanonical?
P35659-11yes
P35659-22

RefSeq proteins (2): NP_001128181, NP_003463* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003034SAP_domDomain
IPR014876DEK_CDomain
IPR044198DEKFamily

Pfam: PF02037, PF08766

UniProt features (62 total): modified residue 31, helix 10, compositionally biased region 7, domain 2, DNA-binding region 2, strand 2, region of interest 2, initiator methionine 1, chain 1, splice variant 1, sequence variant 1, turn 1, short sequence motif 1

Structure

Experimental structures (PDB)

6 structures.

PDBMethodResolution (Å)
9L1XELECTRON MICROSCOPY2.69
8KCYELECTRON MICROSCOPY2.8
9L22ELECTRON MICROSCOPY3
8KD1ELECTRON MICROSCOPY3.2
1Q1VSOLUTION NMR
2JX3SOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P35659-F166.180.06

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (31): 2, 13, 15, 19, 32, 51, 72, 121, 122, 159, 199, 201, 204, 210, 227, 230, 231, 232, 243, 244 …

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-5250924B-WICH complex positively regulates rRNA expression
R-HSA-8864260Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-9616222Transcriptional regulation of granulopoiesis

MSigDB gene sets: 308 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, MORF_SMC1L1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_UBE2I, GEORGES_CELL_CYCLE_MIR192_TARGETS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_HDAC1, MORF_RAD21, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, MORF_CDK2, MITSIADES_RESPONSE_TO_APLIDIN_DN, MORF_HDAC2, GNF2_MCM5, GOBP_REGULATION_OF_DNA_REPAIR, DOANE_BREAST_CANCER_CLASSES_DN

GO Biological Process (11): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), signal transduction (GO:0007165), viral genome replication (GO:0019079), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of transcription by RNA polymerase III (GO:0045945), regulation of double-strand break repair (GO:2000779), regulation of double-strand break repair via nonhomologous end joining (GO:2001032), chromatin organization (GO:0006325)

GO Molecular Function (4): DNA binding (GO:0003677), RNA binding (GO:0003723), histone binding (GO:0042393), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), contractile muscle fiber (GO:0043292), B-WICH complex (GO:0110016)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Positive epigenetic regulation of rRNA expression1
Generic Transcription Pathway1
Developmental Biology1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of DNA-templated transcription3
transcription by RNA polymerase II2
nucleic acid binding2
nuclear lumen2
intracellular membraneless organelle2
chromatin organization1
regulation of DNA-templated transcription1
DNA-templated transcription1
cell communication1
cellular process1
signaling1
regulation of cellular process1
cellular response to stimulus1
viral process1
viral life cycle1
regulation of transcription by RNA polymerase I1
transcription by RNA polymerase I1
regulation of transcription by RNA polymerase II1
regulation of transcription by RNA polymerase III1
transcription by RNA polymerase III1
regulation of DNA repair1
double-strand break repair1
double-strand break repair via nonhomologous end joining1
regulation of double-strand break repair1
cellular component organization1
protein binding1
binding1
intracellular membrane-bounded organelle1
cellular anatomical structure1
cytoplasm1
supramolecular fiber1
nucleolus1
SWI/SNF superfamily-type complex1

Protein interactions and networks

STRING

2134 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DEKRNPS1Q15287972
DEKSRRM1Q8IYB3968
DEKNUP214P35658928
DEKU2AF1Q01081898
DEKALYREFQ86V81876
DEKU2AF2P26368833
DEKDAXXQ9UER7708
DEKH2AC20Q16777700
DEKH2BC21Q16778676
DEKMYBBP1AQ9BQG0668
DEKANP32AP39687658
DEKSRSF11Q05519650
DEKJMJD6Q6NYC1650
DEKPNNQ9H307649
DEKKMT2AQ03164629

IntAct

85 interactions, top by confidence:

ABTypeScore
CDK8MED19psi-mi:“MI:0914”(association)0.850
PHF1EEDpsi-mi:“MI:0914”(association)0.790
CFTRESYT2psi-mi:“MI:0914”(association)0.710
ARHGEF26CASKpsi-mi:“MI:0914”(association)0.690
DEKCSNK2A1psi-mi:“MI:0217”(phosphorylation reaction)0.690
LCORPHF1psi-mi:“MI:0914”(association)0.640
DEKGPATCH11psi-mi:“MI:0915”(physical association)0.560
ULK3AIPpsi-mi:“MI:0914”(association)0.530
DAXXDEKpsi-mi:“MI:0915”(physical association)0.500
CFTRPLEKHG3psi-mi:“MI:0914”(association)0.480
H3C1SMCHD1psi-mi:“MI:2364”(proximity)0.410
UBE2KDEKpsi-mi:“MI:0915”(physical association)0.400
KIF13BDEKpsi-mi:“MI:0915”(physical association)0.400
KIF15DEKpsi-mi:“MI:0915”(physical association)0.400
DEKH2BC9psi-mi:“MI:0915”(physical association)0.400
DHX16DEKpsi-mi:“MI:0915”(physical association)0.400
UPF1DEKpsi-mi:“MI:0915”(physical association)0.400
MAF1b1DEKpsi-mi:“MI:0915”(physical association)0.370
Rpl35RPS6psi-mi:“MI:0914”(association)0.350
RPL10RPS6psi-mi:“MI:0914”(association)0.350
NOP56C12orf43psi-mi:“MI:0914”(association)0.350
MMGT1DERL1psi-mi:“MI:0914”(association)0.350
RBPJSAMD1psi-mi:“MI:0914”(association)0.350
JUNpsi-mi:“MI:0914”(association)0.350
Xpo1IFT56psi-mi:“MI:0914”(association)0.350

BioGRID (280): SPOP (Affinity Capture-Western), DEK (Protein-peptide), DEK (Biochemical Activity), DEK (Affinity Capture-Western), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), BPTF (Co-fractionation), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS), DEK (Affinity Capture-MS)

ESM2 similar proteins: F4JP52, F4JW79, F4K4D6, F4K4Y5, I1HNB2, O04608, O23063, O24591, O48802, O49595, P05221, P06748, P07222, P13084, P16039, P35659, P91753, Q0WNR6, Q1HTZ8, Q1HTZ9, Q1PEP5, Q3T160, Q56WH4, Q61937, Q63ZM9, Q6AXS3, Q6DJ13, Q6V9I6, Q7TNV0, Q7XTT4, Q84JB7, Q8GUP3, Q8LDF9, Q8LJS2, Q8RXT5, Q94C59, Q94IK2, Q9C8J7, Q9FVE6, Q9H501

Diamond homologs: P35659, Q6AXS3, Q7TNV0, Q84JB7, Q9SMM8, F4K4Y5, Q9SUA1

SIGNOR signaling

15 interactions.

AEffectBMechanism
CSNK2A1up-regulatesDEKphosphorylation
DEK“down-regulates quantity by repression”PRDX5“transcriptional regulation”
DEK“form complex”“B-WICH complex”binding
SPOP“down-regulates quantity by destabilization”DEKbinding
“Cullin 3-RBX1-Skp1”“down-regulates quantity by destabilization”DEKubiquitination
GSK3B“down-regulates quantity by destabilization”DEKphosphorylation
SCF-FBW7“down-regulates quantity by destabilization”DEKpolyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
PRC2 methylates histones and DNA59.6×8e-03
Regulation of PD-L1(CD274) transcription68.3×7e-03
NoRC negatively regulates rRNA expression68.0×7e-03
Activation of anterior HOX genes in hindbrain development during early embryogenesis66.9×1e-02
mRNA Splicing - Major Pathway85.5×7e-03
Dengue Virus-Host Interactions95.2×7e-03

GO biological processes:

GO termPartnersFoldFDR
stem cell population maintenance522.4×2e-03
JNK cascade514.5×9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

64 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance49
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1773 predictions. Top by Δscore:

VariantEffectΔscore
6:18225727:TTAG:Tacceptor_gain1.0000
6:18236447:ATTAC:Adonor_loss1.0000
6:18236448:TTA:Tdonor_loss1.0000
6:18236449:TA:Tdonor_loss1.0000
6:18236450:A:ATdonor_loss1.0000
6:18236451:C:Adonor_loss1.0000
6:18236597:CTTT:Cacceptor_gain1.0000
6:18236601:C:CCacceptor_gain1.0000
6:18237377:ATAC:Adonor_loss1.0000
6:18237378:TAC:Tdonor_loss1.0000
6:18237379:A:ACdonor_gain1.0000
6:18237379:ACCT:Adonor_loss1.0000
6:18237380:C:CCdonor_gain1.0000
6:18237512:GGTGG:Gacceptor_gain1.0000
6:18237513:GTGG:Gacceptor_gain1.0000
6:18237514:TGG:Tacceptor_gain1.0000
6:18237515:GG:Gacceptor_gain1.0000
6:18237515:GGC:Gacceptor_loss1.0000
6:18237516:GC:Gacceptor_loss1.0000
6:18237517:C:CAacceptor_loss1.0000
6:18237517:C:CCacceptor_gain1.0000
6:18237519:G:Cacceptor_gain1.0000
6:18237520:T:Cacceptor_gain1.0000
6:18237520:T:TCacceptor_gain1.0000
6:18237523:C:CTacceptor_gain1.0000
6:18237524:A:Tacceptor_gain1.0000
6:18244604:C:CCacceptor_gain1.0000
6:18249645:TTTTA:Tdonor_loss1.0000
6:18249646:TTTAC:Tdonor_loss1.0000
6:18249647:TTAC:Tdonor_loss1.0000

AlphaMissense

2518 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:18255758:G:CF182L1.000
6:18255758:G:TF182L1.000
6:18255760:A:GF182L1.000
6:18255813:A:GL164P1.000
6:18255821:A:CC161W1.000
6:18256418:C:TG132D1.000
6:18256419:C:GG132R1.000
6:18256423:G:CF130L1.000
6:18256423:G:TF130L1.000
6:18256424:A:GF130S1.000
6:18256425:A:GF130L1.000
6:18257957:C:TG118D1.000
6:18257982:G:CH110D1.000
6:18257993:A:GL106P1.000
6:18258354:A:GL66S1.000
6:18258356:C:AR65S1.000
6:18258356:C:GR65S1.000
6:18258377:C:AR58S1.000
6:18258377:C:GR58S1.000
6:18258378:C:AR58M1.000
6:18258378:C:GR58T1.000
6:18255747:G:TP186Q0.999
6:18255813:A:TL164H0.999
6:18255822:C:TC161Y0.999
6:18255834:A:GL157S0.999
6:18256408:A:CF135L0.999
6:18256408:A:TF135L0.999
6:18256410:A:GF135L0.999
6:18256414:A:CF133L0.999
6:18256414:A:TF133L0.999

dbSNP variants (sampled 300 via entrez): RS1000016996 (6:18243732 G>A), RS1000036179 (6:18224186 T>C), RS1000097076 (6:18228898 C>G), RS1000190947 (6:18264721 G>A,C,T), RS1000205166 (6:18259061 T>C), RS1000220251 (6:18264868 C>A,G), RS1000292117 (6:18233345 A>G), RS1000307917 (6:18238754 C>T), RS1000349909 (6:18224424 CAT>C), RS1000408671 (6:18264061 AC>A), RS1000420609 (6:18238447 C>A,G,T), RS1000493317 (6:18227324 G>A,C), RS1000496853 (6:18232358 G>A), RS1000521731 (6:18244021 T>A,C), RS1000597714 (6:18248629 A>C,G)

Disease associations

OMIM: gene MIM:125264 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

6 associations (top):

StudyTraitp-value
GCST006414_141Atrial fibrillation2.000000e-19
GCST009391_1568Metabolite levels4.000000e-06
GCST009391_533Metabolite levels3.000000e-06
GCST009391_598Metabolite levels1.000000e-07
GCST010320_13PR interval5.000000e-10
GCST010321_8PR interval1.000000e-10

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0010516orotic acid measurement
EFO:0010528quinolinic acid measurement
EFO:0010502indoxyl sulfate measurement
EFO:0004462PR interval

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066180 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

MoleculeNamePhasePatents
CHEMBL1232461MOLIBRESIB21,538

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
5.43IC503690nMMOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide2178831: Inhibition of DEK (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysisic503.6900uM

CTD chemical–gene interactions

88 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects expression, decreases expression3
perfluorooctane sulfonic aciddecreases expression2
Resveratrolaffects cotreatment, increases expression, decreases expression2
Doxorubicindecreases expression, increases expression2
Quercetinaffects phosphorylation, decreases expression2
Cyclosporinedecreases expression, increases expression2
Aflatoxin B1affects expression, decreases methylation2
Cadmium Chloridedecreases expression, increases expression, increases methylation2
Particulate Matterdecreases expression, increases abundance2
aristolochic acid Idecreases expression1
FR900359affects phosphorylation1
TAK-243decreases sumoylation1
dicrotophosdecreases expression1
2,4,6-tribromophenolincreases expression1
triphenyl phosphateaffects expression1
geranioldecreases expression1
sodium arsenatedecreases expression1
titanium dioxideaffects expression1
decabromobiphenyl etherincreases expression1
kojic aciddecreases expression1
trichostatin Aaffects expression1
alpha-ketoisocaproic aciddecreases chemical synthesis, decreases secretion1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arsenitedecreases expression1
cobaltous chloridedecreases expression1
tetrabromobisphenol Aincreases expression1
N(1)-methylnicotinamidedecreases chemical synthesis1
coumarinincreases phosphorylation1
formic aciddecreases chemical synthesis1
dimethylamineincreases secretion1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5697561BindingInhibition of DEK (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysisInhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_2041FKH-1Cancer cell lineMale
CVCL_5058SNU-407Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.