UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:CCDC57-CSNK1D

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CCDC57-CSNK1D
FusionPDB ID: 13838
FusionGDB2.0 ID: 13838
HgeneTgene
Gene symbol

CCDC57

CSNK1D

Gene ID

284001

1453

Gene namecoiled-coil domain containing 57casein kinase 1 delta
Synonyms-ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 57casein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1D
Modification date2020031320200313
UniProtAcc

Q2TAC2

P48730

Ensembl transtripts involved in fusion geneENST idsENST00000389641, ENST00000392346, 
ENST00000392347, ENST00000327026, 
ENST00000392343, 
ENST00000578904, 
ENST00000314028, ENST00000392334, 
ENST00000398519, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 12 X 12=201620 X 19 X 9=3420
# samples 1822
** MAII scorelog2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/3420*10)=-3.9584208962486
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CCDC57 [Title/Abstract] AND CSNK1D [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CCDC57(80109436)-CSNK1D(80209403), # samples:2
CSNK1D(80209254)-CCDC57(80059742), # samples:1
CSNK1D(80209255)-CCDC57(80059742), # samples:1
Anticipated loss of major functional domain due to fusion event.CCDC57-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CSNK1D-CCDC57 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CSNK1D-CCDC57 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CCDC57-CSNK1D seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
CSNK1D-CCDC57 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CSNK1D-CCDC57 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CSNK1D-CCDC57 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
* 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
TgeneCSNK1D

GO:0006468

protein phosphorylation

16618118

TgeneCSNK1D

GO:0018105

peptidyl-serine phosphorylation

25500533

TgeneCSNK1D

GO:0051225

spindle assembly

10826492


check buttonFusion gene breakpoints across CCDC57 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CSNK1D (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-BC-A10T-01ACCDC57chr17

80085568

-CSNK1Dchr17

80223672

-
ChimerDB4LUSCTCGA-21-A5DI-01ACCDC57chr17

80085568

-CSNK1Dchr17

80211120

-
ChimerDB4UCECTCGA-B5-A5OD-01ACCDC57chr17

80109436

-CSNK1Dchr17

80209403

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000392346CCDC57chr1780085568-ENST00000398519CSNK1Dchr1780223672-264111845172391624
ENST00000392346CCDC57chr1780085568-ENST00000314028CSNK1Dchr1780223672-447011845172355612

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000392346ENST00000398519CCDC57chr1780085568-CSNK1Dchr1780223672-0.0277455190.9722545
ENST00000392346ENST00000314028CCDC57chr1780085568-CSNK1Dchr1780223672-0.0077605480.9922395

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>13838_13838_1_CCDC57-CSNK1D_CCDC57_chr17_80085568_ENST00000392346_CSNK1D_chr17_80223672_ENST00000314028_length(amino acids)=612AA_BP=222
MLQGLTKRGPMEAEDQGELFLHLRSVARAPQTLSMHRLQRKLKEAARKIISLRLEKEQLIEMGNRLRAELGRPERWLLHHALPPAPEARK
PGEEPRRPLDRSPPLGQVQPHFTSQDAKSAEDEAPSRHLGKHQPRSAQVGSRLDALQGPKTQHSIHTVTCKSPRQKEDRSPKPPQAPQHP
EEHGRQSHSSSSFASGTLQDMWRLLDLGSSPSGVTSQGDSTPGTDIAAGEEVAIKLECVKTKHPQLHIESKIYKMMQGGVGIPTIRWCGA
EGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNLVYIIDFGLAKKYRDARTHQ
HIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMSTPIEVLCKGYPSEFATYLN
FCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATRGLPSTASGRLRGTQEVAPP

--------------------------------------------------------------

>13838_13838_2_CCDC57-CSNK1D_CCDC57_chr17_80085568_ENST00000392346_CSNK1D_chr17_80223672_ENST00000398519_length(amino acids)=624AA_BP=222
MLQGLTKRGPMEAEDQGELFLHLRSVARAPQTLSMHRLQRKLKEAARKIISLRLEKEQLIEMGNRLRAELGRPERWLLHHALPPAPEARK
PGEEPRRPLDRSPPLGQVQPHFTSQDAKSAEDEAPSRHLGKHQPRSAQVGSRLDALQGPKTQHSIHTVTCKSPRQKEDRSPKPPQAPQHP
EEHGRQSHSSSSFASGTLQDMWRLLDLGSSPSGVTSQGDSTPGTDIAAGEEVAIKLECVKTKHPQLHIESKIYKMMQGGVGIPTIRWCGA
EGDYNVMVMELLGPSLEDLFNFCSRKFSLKTVLLLADQMISRIEYIHSKNFIHRDVKPDNFLMGLGKKGNLVYIIDFGLAKKYRDARTHQ
HIPYRENKNLTGTARYASINTHLGIEQSRRDDLESLGYVLMYFNLGSLPWQGLKAATKRQKYERISEKKMSTPIEVLCKGYPSEFATYLN
FCRSLRFDDKPDYSYLRQLFRNLFHRQGFSYDYVFDWNMLKFGASRAADDAERERRDREERLRHSRNPATRGLPSTASGRLRGTQEVAPP

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:80109436/chr17:80209403)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC57

Q2TAC2

CSNK1D

P48730

FUNCTION: Pleiotropic regulator of centriole duplication, mitosis, and ciliogenesis. Critical interface between centrosome and microtubule-mediated cellular processes. Centriole duplication protein required for recruitment of CEP63, CEP152, and PLK4 to the centrosome. Independent of its centrosomal targeting, localizes to and interacts with microtubules and regulates microtubule nucleation, stability, and mitotic progression. {ECO:0000269|PubMed:32402286}.FUNCTION: Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as 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. Central component of the circadian clock. In balance with PP1, determines the circadian period length through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. YAP1 phosphorylation promotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediated ubiquitination and subsequent degradation. DNMT1 phosphorylation reduces its DNA-binding activity. Phosphorylation of ESR1 and AIB1/NCOA3 stimulates their activity and coactivation. Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathway that controls neurite outgrowth. EIF6 phosphorylation promotes its nuclear export. Triggers down-regulation of dopamine receptors in the forebrain. Activates DCK in vitro by phosphorylation. TOP2A phosphorylation favors DNA cleavable complex formation. May regulate the formation of the mitotic spindle apparatus in extravillous trophoblast. Modulates connexin-43/GJA1 gap junction assembly by phosphorylation. Probably involved in lymphocyte physiology. Regulates fast synaptic transmission mediated by glutamate. {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-1718214_422855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-1718456_483855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-1718521_548855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-171892_173855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-1617214_422855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-1617456_483855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-1617521_548855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-161792_173855.3333333333334917.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-17181_502855.3333333333334917.0RegionCentrosomal targeting domain
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-16171_502855.3333333333334917.0RegionCentrosomal targeting domain
TgeneCSNK1Dchr17:80085568chr17:80223672ENST0000031402809278_36425.333333333333332416.0RegionNote=Centrosomal localization signal (CLS)
TgeneCSNK1Dchr17:80085568chr17:80223672ENST0000031402809317_34225.333333333333332416.0RegionAutoinhibitory
TgeneCSNK1Dchr17:80085568chr17:80223672ENST00000392334010278_36425.333333333333332420.3333333333333RegionNote=Centrosomal localization signal (CLS)
TgeneCSNK1Dchr17:80085568chr17:80223672ENST00000392334010317_34225.333333333333332420.3333333333333RegionAutoinhibitory

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-115214_4220752.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-115456_4830752.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-115521_5480752.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-11592_1730752.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC57chr17:80085568chr17:80223672ENST00000389641-1718606_915855.3333333333334917.0RegionMicrotubule binding domain
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-1151_5020752.0RegionCentrosomal targeting domain
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392343-115606_9150752.0RegionMicrotubule binding domain
HgeneCCDC57chr17:80085568chr17:80223672ENST00000392347-1617606_915855.3333333333334917.0RegionMicrotubule binding domain
TgeneCSNK1Dchr17:80085568chr17:80223672ENST00000314028099_27725.333333333333332416.0DomainProtein kinase
TgeneCSNK1Dchr17:80085568chr17:80223672ENST000003923340109_27725.333333333333332420.3333333333333DomainProtein kinase
TgeneCSNK1Dchr17:80085568chr17:80223672ENST000003140280915_2325.333333333333332416.0Nucleotide bindingATP
TgeneCSNK1Dchr17:80085568chr17:80223672ENST0000039233401015_2325.333333333333332420.3333333333333Nucleotide bindingATP


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CCDC57
CSNK1D


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to CCDC57-CSNK1D


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to CCDC57-CSNK1D


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource