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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:ANK3-CDK1 (FusionGDB2 ID:HG288TG983)

Fusion Gene Summary for ANK3-CDK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK3-CDK1
Fusion gene ID: hg288tg983
HgeneTgene
Gene symbol

ANK3

CDK1

Gene ID

288

983

Gene nameankyrin 3cyclin dependent kinase 1
SynonymsANKYRIN-G|MRT37CDC2|CDC28A|P34CDC2
Cytomap('ANK3')('CDK1')

10q21.2

10q21.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin-3ankyrin 3, node of Ranvier (ankyrin G)cyclin-dependent kinase 1cell cycle controller CDC2cell division control protein 2 homologcell division cycle 2, G1 to S and G2 to Mcell division protein kinase 1p34 protein kinase
Modification date2020031320200327
UniProtAcc

Q12955

.
Ensembl transtripts involved in fusion geneENST00000280772, ENST00000355288, 
ENST00000373827, ENST00000503366, 
ENST00000510382, ENST00000460468, 
Fusion gene scores* DoF score28 X 22 X 9=55443 X 3 X 4=36
# samples 294
** MAII scorelog2(29/5544*10)=-4.25680245212228
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ANK3 [Title/Abstract] AND CDK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANK3(61894029)-CDK1(62539899), # samples:3
Anticipated loss of major functional domain due to fusion event.ANK3-CDK1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ANK3-CDK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ANK3-CDK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ANK3-CDK1 seems lost the major protein functional domain in Tgene 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
TgeneCDK1

GO:0006468

protein phosphorylation

23509069|23574715

TgeneCDK1

GO:0018105

peptidyl-serine phosphorylation

11298763|19879842

TgeneCDK1

GO:0018107

peptidyl-threonine phosphorylation

11298763

TgeneCDK1

GO:0034501

protein localization to kinetochore

18195732

TgeneCDK1

GO:0043066

negative regulation of apoptotic process

11069302



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
ChimerDB4BRCATCGA-A2-A0CL-01AANK3chr10

61894029

-CDK1chr10

62539899

+
ChimerDB4LUSCTCGA-43-7657ANK3chr10

62493020

-CDK1chr10

62544462

+


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Fusion Gene ORF analysis for ANK3-CDK1

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
5CDS-3UTRENST00000280772ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-3UTRENST00000355288ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-3UTRENST00000373827ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-3UTRENST00000503366ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000280772ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000280772ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000280772ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000355288ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000355288ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000355288ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000373827ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000373827ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000373827ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000503366ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000503366ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-5UTRENST00000503366ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-intronENST00000280772ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-intronENST00000355288ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-intronENST00000373827ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+
5CDS-intronENST00000373827ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
5CDS-intronENST00000373827ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
5CDS-intronENST00000373827ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
5CDS-intronENST00000503366ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+
5UTR-3CDSENST00000510382ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
5UTR-3CDSENST00000510382ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
5UTR-intronENST00000510382ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
5UTR-intronENST00000510382ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
5UTR-intronENST00000510382ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
Frame-shiftENST00000373827ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
Frame-shiftENST00000373827ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000280772ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000280772ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000355288ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000355288ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000460468ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000460468ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000503366ENST00000316629ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3CDSENST00000503366ENST00000395284ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-3UTRENST00000460468ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-3UTRENST00000510382ENST00000519760ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000460468ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000460468ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000460468ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000510382ENST00000316629ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000510382ENST00000395284ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-5UTRENST00000510382ENST00000448257ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-intronENST00000280772ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000280772ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000280772ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000355288ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000355288ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000355288ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000460468ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+
intron-intronENST00000460468ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000460468ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000460468ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000503366ENST00000373809ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000503366ENST00000448257ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000503366ENST00000519760ANK3chr10

62493020

-CDK1chr10

62544462

+
intron-intronENST00000510382ENST00000373809ANK3chr10

61894029

-CDK1chr10

62539899

+

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 ANK3-CDK1


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)
ANK3chr1062493020-CDK1chr1062544462+0.123264480.8767355
ANK3chr1061894028-CDK1chr1062539898+0.0001376840.9998623
ANK3chr1062493020-CDK1chr1062544462+0.123264480.8767355
ANK3chr1061894028-CDK1chr1062539898+0.0001376840.9998623


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ANK3-CDK1


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/:61894029/:62539899)
- 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
ANK3

Q12955

.
FUNCTION: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). {ECO:0000250, ECO:0000269|PubMed:17974005}.; FUNCTION: [Isoform 5]: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. {ECO:0000305|PubMed:17974005}.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 ANK3-CDK1


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 ANK3-CDK1


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 ANK3-CDK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ANK3-CDK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK3C0005586Bipolar Disorder8CTD_human;PSYGENET
HgeneANK3C0005587Depression, Bipolar3CTD_human
HgeneANK3C0024713Manic Disorder3CTD_human
HgeneANK3C0036341Schizophrenia3PSYGENET
HgeneANK3C0338831Manic3CTD_human
HgeneANK3C0033975Psychotic Disorders2PSYGENET
HgeneANK3C0525045Mood Disorders2PSYGENET
HgeneANK3C0015923Fetal Alcohol Syndrome1CTD_human
HgeneANK3C0024121Lung Neoplasms1CTD_human
HgeneANK3C0033300Progeria1CTD_human
HgeneANK3C0038220Status Epilepticus1CTD_human
HgeneANK3C0178417Anhedonia1PSYGENET
HgeneANK3C0242379Malignant neoplasm of lung1CTD_human
HgeneANK3C0270823Petit mal status1CTD_human
HgeneANK3C0311335Grand Mal Status Epilepticus1CTD_human
HgeneANK3C0349204Nonorganic psychosis1PSYGENET
HgeneANK3C0393734Complex Partial Status Epilepticus1CTD_human
HgeneANK3C0751522Status Epilepticus, Subclinical1CTD_human
HgeneANK3C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneANK3C0751524Simple Partial Status Epilepticus1CTD_human
HgeneANK3C0814154Alcohol Related Neurodevelopmental Disorder1CTD_human
HgeneANK3C2985290Fetal Alcohol Spectrum Disorders1CTD_human
HgeneANK3C3146244Alcohol Related Birth Defect1CTD_human
HgeneANK3C3661483Partial Fetal Alcohol Syndrome1CTD_human
HgeneANK3C3809672MENTAL RETARDATION, AUTOSOMAL RECESSIVE 371CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC1306067Drug-induced paranoid state1PSYGENET
TgeneC2239176Liver carcinoma1CTD_human