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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CDK4-DZANK1 (FusionGDB2 ID:HG1019TG55184)

Fusion Gene Summary for CDK4-DZANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK4-DZANK1
Fusion gene ID: hg1019tg55184
HgeneTgene
Gene symbol

CDK4

DZANK1

Gene ID

1019

55184

Gene namecyclin dependent kinase 4double zinc ribbon and ankyrin repeat domains 1
SynonymsCMM3|PSK-J3ANKRD64|C20orf12|C20orf84
Cytomap('CDK4')('DZANK1')

12q14.1

20p11.23

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 4cell division protein kinase 4double zinc ribbon and ankyrin repeat-containing protein 1ankyrin repeat domain 64ankyrin repeat-containing protein C20orf12
Modification date2020032920200313
UniProtAcc

P11802

.
Ensembl transtripts involved in fusion geneENST00000257904, ENST00000312990, 
ENST00000540325, ENST00000549606, 
ENST00000551888, 
Fusion gene scores* DoF score8 X 7 X 3=1686 X 7 X 5=210
# samples 86
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/210*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDK4 [Title/Abstract] AND DZANK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDK4(58144740)-DZANK1(18413139), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCDK4

GO:0006468

protein phosphorylation

8114739

HgeneCDK4

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

HgeneCDK4

GO:0071157

negative regulation of cell cycle arrest

19124461



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CDK4-DZANK1

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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

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Fusion Genomic Features for CDK4-DZANK1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for CDK4-DZANK1


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/:58144740/:18413139)
- 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
CDK4

P11802

.
FUNCTION: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403, ECO:0000269|PubMed:9003781}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for CDK4-DZANK1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CDK4-DZANK1


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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Related Drugs for CDK4-DZANK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCDK4P11802DB09073PalbociclibInhibitorSmall moleculeApproved|Investigational
HgeneCDK4P11802DB11730RibociclibAntagonist|InhibitorSmall moleculeApproved|Investigational
HgeneCDK4P11802DB12001AbemaciclibInhibitorSmall moleculeApproved|Investigational
HgeneCDK4P11802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for CDK4-DZANK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDK4C1836892MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 39CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCDK4C0024668Mammary Neoplasms, Experimental3CTD_human
HgeneCDK4C0007097Carcinoma2CTD_human
HgeneCDK4C0023827liposarcoma2CGI;CTD_human
HgeneCDK4C0024667Animal Mammary Neoplasms2CTD_human
HgeneCDK4C0205696Anaplastic carcinoma2CTD_human
HgeneCDK4C0205697Carcinoma, Spindle-Cell2CTD_human
HgeneCDK4C0205698Undifferentiated carcinoma2CTD_human
HgeneCDK4C0205699Carcinomatosis2CTD_human
HgeneCDK4C0205824Liposarcoma, Dedifferentiated2CTD_human;ORPHANET
HgeneCDK4C0205825Liposarcoma, Pleomorphic2CTD_human
HgeneCDK4C1257925Mammary Carcinoma, Animal2CTD_human
HgeneCDK4C1370889Liposarcoma, well differentiated2CTD_human;ORPHANET
HgeneCDK4C0006118Brain Neoplasms1CTD_human
HgeneCDK4C0024623Malignant neoplasm of stomach1CTD_human
HgeneCDK4C0027659Neoplasms, Experimental1CTD_human
HgeneCDK4C0038356Stomach Neoplasms1CTD_human
HgeneCDK4C0153633Malignant neoplasm of brain1CTD_human
HgeneCDK4C0496899Benign neoplasm of brain, unspecified1CTD_human
HgeneCDK4C0677866Brain Stem Neoplasms1CTD_human
HgeneCDK4C0750974Brain Tumor, Primary1CTD_human
HgeneCDK4C0750977Recurrent Brain Neoplasm1CTD_human
HgeneCDK4C0750979Primary malignant neoplasm of brain1CTD_human
HgeneCDK4C0751886Brain Stem Neoplasms, Primary1CTD_human
HgeneCDK4C0751887Medullary Neoplasms1CTD_human
HgeneCDK4C0751888Mesencephalic Neoplasms1CTD_human
HgeneCDK4C0751889Pontine Tumors1CTD_human
HgeneCDK4C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneCDK4C1527390Neoplasms, Intracranial1CTD_human
HgeneCDK4C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCDK4C2239176Liver carcinoma1CTD_human
HgeneCDK4C2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET