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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9523

FusionGeneSummary for DDIT4_CSNK1D

check button Fusion gene summary
Fusion gene informationFusion gene name: DDIT4_CSNK1D
Fusion gene ID: 9523
HgeneTgene
Gene symbol

DDIT4

CSNK1D

Gene ID

54541

1453

Gene nameDNA damage inducible transcript 4casein kinase 1 delta
SynonymsDig2|REDD-1|REDD1ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID
Cytomap

10q22.1

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionDNA damage-inducible transcript 4 proteinHIF-1 responsive protein RTP801protein regulated in development and DNA damage response 1casein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1D
Modification date2018051920180529
UniProtAcc

Q9NX09

P48730

Ensembl transtripts involved in fusion geneENST00000307365, ENST00000398519, 
ENST00000314028, ENST00000392334, 
ENST00000578904, 
Fusion gene scores* DoF score3 X 3 X 2=1814 X 14 X 6=1176
# samples 316
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(16/1176*10)=-2.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDIT4 [Title/Abstract] AND CSNK1D [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDDIT4

GO:0001666

response to hypoxia

20166753

HgeneDDIT4

GO:0051607

defense response to virus

21478870

TgeneCSNK1D

GO:0006468

protein phosphorylation

16618118

TgeneCSNK1D

GO:0018105

peptidyl-serine phosphorylation

25500533

TgeneCSNK1D

GO:0051225

spindle assembly

10826492


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE774996DDIT4chr10

74035365

-CSNK1Dchr17

80210346

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-3CDSENST00000307365ENST00000398519DDIT4chr10

74035365

-CSNK1Dchr17

80210346

-
3UTR-3CDSENST00000307365ENST00000314028DDIT4chr10

74035365

-CSNK1Dchr17

80210346

-
3UTR-3CDSENST00000307365ENST00000392334DDIT4chr10

74035365

-CSNK1Dchr17

80210346

-
3UTR-5UTRENST00000307365ENST00000578904DDIT4chr10

74035365

-CSNK1Dchr17

80210346

-

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FusionProtFeatures for DDIT4_CSNK1D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDIT4

Q9NX09

CSNK1D

P48730

Regulates cell growth, proliferation and survival viainhibition of the activity of the mammalian target of rapamycincomplex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathwaythat involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and theGTPase RHEB. Plays an important role in responses to cellularenergy levels and cellular stress, including responses to hypoxiaand DNA damage. Regulates p53/TP53-mediated apoptosis in responseto DNA damage via its effect on mTORC1 activity. Its role in theresponse to hypoxia depends on the cell type; it mediates mTORC1inhibition in fibroblasts and thymocytes, but not in hepatocytes(By similarity). Required for mTORC1-mediated defense againstviral protein synthesis and virus replication (By similarity).Inhibits neuronal differentiation and neurite outgrowth mediatedby NGF via its effect on mTORC1 activity. Required for normalneuron migration during embryonic brain development. Plays a rolein neuronal cell death. {ECO:0000250, ECO:0000269|PubMed:15545625,ECO:0000269|PubMed:15632201, ECO:0000269|PubMed:15988001,ECO:0000269|PubMed:17005863, ECO:0000269|PubMed:17379067,ECO:0000269|PubMed:19557001, ECO:0000269|PubMed:20166753,ECO:0000269|PubMed:21460850}. Essential serine/threonine-protein kinase that regulatesdiverse cellular growth and survival processes including Wntsignaling, DNA repair and circadian rhythms. It can phosphorylatea large number of proteins. Casein kinases are operationallydefined by their preferential utilization of acidic proteins suchas caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A,SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3,ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Centralcomponent of the circadian clock. In balance with PP1, determinesthe circadian period length through the regulation of the speedand rhythmicity of PER1 and PER2 phosphorylation. Controls PER1and PER2 nuclear transport and degradation. YAP1 phosphorylationpromotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediatedubiquitination and subsequent degradation. DNMT1 phosphorylationreduces its DNA-binding activity. Phosphorylation of ESR1 andAIB1/NCOA3 stimulates their activity and coactivation.Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathwaythat controls neurite outgrowth. EIF6 phosphorylation promotes itsnuclear export. Triggers down-regulation of dopamine receptors inthe forebrain. Activates DCK in vitro by phosphorylation. TOP2Aphosphorylation favors DNA cleavable complex formation. Mayregulate the formation of the mitotic spindle apparatus inextravillous trophoblast. Modulates connexin-43/GJA1 gap junctionassembly by phosphorylation. Probably involved in lymphocytephysiology. Regulates fast synaptic transmission mediated byglutamate. {ECO:0000269|PubMed:10606744,ECO:0000269|PubMed:12270943, ECO:0000269|PubMed:14761950,ECO:0000269|PubMed:16027726, ECO:0000269|PubMed:17562708,ECO:0000269|PubMed:17962809, ECO:0000269|PubMed:19043076,ECO:0000269|PubMed:19339517, ECO:0000269|PubMed:20041275,ECO:0000269|PubMed:20048001, ECO:0000269|PubMed:20407760,ECO:0000269|PubMed:20637175, ECO:0000269|PubMed:20696890,ECO:0000269|PubMed:20699359, ECO:0000269|PubMed:21084295,ECO:0000269|PubMed:21422228, ECO:0000269|PubMed:23636092}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for DDIT4_CSNK1D


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DDIT4_CSNK1D


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for DDIT4_CSNK1D


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DDIT4_CSNK1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDIT4C0003873Rheumatoid Arthritis1CTD_human
HgeneDDIT4C0023418leukemia1CTD_human
HgeneDDIT4C0026636Mouth Diseases1CTD_human
HgeneDDIT4C0027746Nerve Degeneration1CTD_human
HgeneDDIT4C0030567Parkinson Disease1CTD_human
HgeneDDIT4C0041696Unipolar Depression1PSYGENET
HgeneDDIT4C1269683Major Depressive Disorder1PSYGENET
TgeneCSNK1DC0005586Bipolar Disorder1PSYGENET
TgeneCSNK1DC0036341Schizophrenia1PSYGENET
TgeneCSNK1DC0041696Unipolar Depression1PSYGENET
TgeneCSNK1DC1269683Major Depressive Disorder1PSYGENET
TgeneCSNK1DC3808874ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 21UNIPROT