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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: 5356

FusionGeneSummary for CAMK2D_IQGAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMK2D_IQGAP1
Fusion gene ID: 5356
HgeneTgene
Gene symbol

CAMK2D

IQGAP1

Gene ID

817

8826

Gene namecalcium/calmodulin dependent protein kinase II deltaIQ motif containing GTPase activating protein 1
SynonymsCAMKDHUMORFA01|SAR1|p195
Cytomap

4q26

15q26.1

Type of geneprotein-codingprotein-coding
Descriptioncalcium/calmodulin-dependent protein kinase type II subunit deltaCaM kinase II delta subunitCaM-kinase II delta chainCaMK-II delta subunitcalcium/calmodulin-dependent protein kinase (CaM kinase) II deltacalcium/calmodulin-dependent protein kinase typras GTPase-activating-like protein IQGAP1RasGAP-like with IQ motifs
Modification date2018052320180522
UniProtAcc

Q13557

P46940

Ensembl transtripts involved in fusion geneENST00000394524, ENST00000454265, 
ENST00000394526, ENST00000429180, 
ENST00000296402, ENST00000418639, 
ENST00000511664, ENST00000342666, 
ENST00000515496, ENST00000514328, 
ENST00000394522, ENST00000505990, 
ENST00000379773, ENST00000508738, 
ENST00000509907, 		ENST00000268182, 
ENST00000560738, ENST00000560020, 
Fusion gene scores* DoF score7 X 8 X 6=3367 X 7 X 4=196
# samples 87
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAMK2D [Title/Abstract] AND IQGAP1 [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
HgeneCAMK2D

GO:0003254

regulation of membrane depolarization

22514276

HgeneCAMK2D

GO:0006468

protein phosphorylation

17179159|23283722

HgeneCAMK2D

GO:0018105

peptidyl-serine phosphorylation

22514276|23283722

HgeneCAMK2D

GO:0018107

peptidyl-threonine phosphorylation

22514276|23283722

HgeneCAMK2D

GO:0046777

protein autophosphorylation

22514276

HgeneCAMK2D

GO:0051259

protein complex oligomerization

20668654

HgeneCAMK2D

GO:1901897

regulation of relaxation of cardiac muscle

23283722

HgeneCAMK2D

GO:1902306

negative regulation of sodium ion transmembrane transport

22514276

HgeneCAMK2D

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

22514276

TgeneIQGAP1

GO:0071277

cellular response to calcium ion

18567582


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
ChiTaRS3.1L33075CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
* 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
intron-5UTRENST00000394524ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000394524ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000394524ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000454265ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000454265ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000454265ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000394526ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000394526ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000394526ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000429180ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000429180ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000429180ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000296402ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000296402ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000296402ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000418639ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000418639ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000418639ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000511664ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000511664ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000511664ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000342666ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000342666ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000342666ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000515496ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000515496ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000515496ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000514328ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000514328ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000514328ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000394522ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000394522ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000394522ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000505990ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000505990ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000505990ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000379773ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000379773ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000379773ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000508738ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000508738ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000508738ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000509907ENST00000268182CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-5UTRENST00000509907ENST00000560738CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+
intron-intronENST00000509907ENST00000560020CAMK2Dchr4

114615498

-IQGAP1chr15

90931501

+

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FusionProtFeatures for CAMK2D_IQGAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAMK2D

Q13557

IQGAP1

P46940

Calcium/calmodulin-dependent protein kinase involved inthe regulation of Ca(2+) homeostatis and excitation-contractioncoupling (ECC) in heart by targeting ion channels, transportersand accessory proteins involved in Ca(2+) influx into the myocyte,Ca(2+) release from the sarcoplasmic reticulum (SR), SR Ca(2+)uptake and Na(+) and K(+) channel transport. Targets alsotranscription factors and signaling molecules to regulate heartfunction. In its activated form, is involved in the pathogenesisof dilated cardiomyopathy and heart failure. Contributes tocardiac decompensation and heart failure by regulating SR Ca(2+)release via direct phosphorylation of RYR2 Ca(2+) channel on 'Ser-2808'. In the nucleus, phosphorylates the MEF2 repressor HDAC4,promoting its nuclear export and binding to 14-3-3 protein, andexpression of MEF2 and genes involved in the hypertrophic program.Is essential for left ventricular remodeling responses tomyocardial infarction. In pathological myocardial remodeling actsdownstream of the beta adrenergic receptor signaling cascade toregulate key proteins involved in ECC. Regulates Ca(2+) influx tomyocytes by binding and phosphorylating the L-type Ca(2+) channelsubunit beta-2 CACNB2. In addition to Ca(2+) channels, can targetand regulate the cardiac sarcolemmal Na(+) channel Nav1.5/SCN5Aand the K+ channel Kv4.3/KCND3, which contribute toarrhythmogenesis in heart failure. Phosphorylates phospholamban(PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2, contributingto the enhancement of SR Ca(2+) uptake that may be important infrequency-dependent acceleration of relaxation (FDAR) andmaintenance of contractile function during acidosis. Mayparticipate in the modulation of skeletal muscle function inresponse to exercise, by regulating SR Ca(2+) transport throughphosphorylation of PLN/PLB and triadin, a ryanodine receptor-coupling factor. {ECO:0000269|PubMed:16690701,ECO:0000269|PubMed:17179159}. Plays a crucial role in regulating the dynamics andassembly of the actin cytoskeleton. Binds to activated CDC42 butdoes not stimulate its GTPase activity. It associates withcalmodulin. Could serve as an assembly scaffold for theorganization of a multimolecular complex that would interfaceincoming signals to the reorganization of the actin cytoskeletonat the plasma membrane. May promote neurite outgrowth(PubMed:15695813). May play a possible role in cell cycleregulation by contributing to cell cycle progression after DNAreplication arrest (PubMed:20883816).{ECO:0000269|PubMed:15695813, ECO:0000269|PubMed:20883816}.

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 CAMK2D_IQGAP1


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 CAMK2D_IQGAP1


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 CAMK2D_IQGAP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIQGAP1P46940DB11638ArtenimolRas GTPase-activating-like protein IQGAP1small moleculeapproved|investigational

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RelatedDiseases for CAMK2D_IQGAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAMK2DC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCAMK2DC0032460Polycystic Ovary Syndrome1CTD_human
HgeneCAMK2DC0151744Myocardial Ischemia1CTD_human
TgeneIQGAP1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneIQGAP1C0043094Weight Gain1CTD_human
TgeneIQGAP1C2239176Liver carcinoma1CTD_human