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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: 8635

FusionGeneSummary for CSNK1D_RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: CSNK1D_RNF213
Fusion gene ID: 8635
HgeneTgene
Gene symbol

CSNK1D

RNF213

Gene ID

1453

57674

Gene namecasein kinase 1 deltaring finger protein 213
SynonymsASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKIDALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncasein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1DE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2018052920180527
UniProtAcc

P48730

Q63HN8

Ensembl transtripts involved in fusion geneENST00000398519, ENST00000314028, 
ENST00000392334, ENST00000578904, 
ENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
Fusion gene scores* DoF score10 X 8 X 9=72012 X 13 X 6=936
# samples 1315
** MAII scorelog2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CSNK1D [Title/Abstract] AND RNF213 [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
HgeneCSNK1D

GO:0006468

protein phosphorylation

16618118

HgeneCSNK1D

GO:0018105

peptidyl-serine phosphorylation

25500533

HgeneCSNK1D

GO:0051225

spindle assembly

10826492

TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


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
TCGALDLGGTCGA-DU-A76R-01ACSNK1Dchr17

80231182

-RNF213chr17

78354631

+
* 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
Frame-shitENST00000398519ENST00000508628CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000398519ENST00000456466CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000398519ENST00000582970CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000398519ENST00000319921CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000398519ENST00000336301CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000398519ENST00000427003CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
Frame-shitENST00000314028ENST00000508628CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000314028ENST00000456466CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000314028ENST00000582970CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000314028ENST00000319921CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000314028ENST00000336301CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000314028ENST00000427003CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
Frame-shitENST00000392334ENST00000508628CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000392334ENST00000456466CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000392334ENST00000582970CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000392334ENST00000319921CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000392334ENST00000336301CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
5CDS-intronENST00000392334ENST00000427003CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-3CDSENST00000578904ENST00000508628CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-intronENST00000578904ENST00000456466CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-intronENST00000578904ENST00000582970CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-intronENST00000578904ENST00000319921CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-intronENST00000578904ENST00000336301CSNK1Dchr17

80231182

-RNF213chr17

78354631

+
intron-intronENST00000578904ENST00000427003CSNK1Dchr17

80231182

-RNF213chr17

78354631

+

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FusionProtFeatures for CSNK1D_RNF213


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CSNK1D

P48730

RNF213

Q63HN8

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 CSNK1D_RNF213


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 CSNK1D_RNF213


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
CSNK1DDVL3, MCC, PER1, GJA1, AKAP9, DVL1, MDM2, HN1L, KDR, PTPN14, TP53, SMAD2, SMAD3, ATM, PML, DBNDD2, SNCA, MAPT, APP, USP16, BYSL, PPP1R14A, YWHAZ, SMAD4, FHL1, MTSS1, NEDD4, CSNK1A1, CSNK1E, TRIM9, LURAP1, BRCA1, ZDHHC17, PPP6C, PER2, RHOJ, DRICH1, MAF1, CACNG2, TRA2A, KCTD17, TEX264, CACNG4, RP2, MICU2, LDLRAD4, NOB1, PPM1B, PCM1, CEP128, XPO1, KLC1, GEMIN7, FAM83H, PRKAR2B, DAP3, AXIN1, BACE1, NFATC1, NFATC2, SMURF1, RAB1A, ATOH1, CDH1, SNX24, FAM110B, ZNF618, GAPVD1, CRY2, CRY1, PDE4DIP, ANKRD49, TDP1, FAM199X, VPS13B, SSMEM1, NXF2, FKBPL, FAM83D, HMMR, HSPA8, CACNG5, APC, TRIM25RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLD


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 CSNK1D_RNF213


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 CSNK1D_RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSNK1DC0005586Bipolar Disorder1PSYGENET
HgeneCSNK1DC0036341Schizophrenia1PSYGENET
HgeneCSNK1DC0041696Unipolar Depression1PSYGENET
HgeneCSNK1DC1269683Major Depressive Disorder1PSYGENET
HgeneCSNK1DC3808874ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 21UNIPROT
TgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT