	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 5354

FusionGeneSummary for CAMK2D_COPS7B

Fusion gene summary

Fusion gene information	Fusion gene name: CAMK2D_COPS7B
	Fusion gene ID: 5354
		Hgene	Tgene
	Gene symbol	CAMK2D	COPS7B
	Gene ID	817	64708
	Gene name	calcium/calmodulin dependent protein kinase II delta	COP9 signalosome subunit 7B
	Synonyms	CAMKD	CSN7B\|SGN7b
	Cytomap	4q26	2q37.1
	Type of gene	protein-coding	protein-coding
	Description	calcium/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 typ	COP9 signalosome complex subunit 7bCOP9 constitutive photomorphogenic homolog subunit 7BJAB1-containing signalosome subunit 7bsignalosome subunit 7b
	Modification date	20180523	20180523
	UniProtAcc	Q13557	Q9H9Q2
	Ensembl transtripts involved in fusion gene	ENST00000394524, ENST00000454265, ENST00000394526, ENST00000429180, ENST00000296402, ENST00000418639, ENST00000511664, ENST00000342666, ENST00000515496, ENST00000514328, ENST00000394522, ENST00000505990, ENST00000379773, ENST00000508738, ENST00000509907,	ENST00000410024, ENST00000409295, ENST00000409091, ENST00000350033, ENST00000410017, ENST00000373608,
Fusion gene scores	* DoF score	7 X 8 X 6=336	3 X 4 X 2=24
	# samples	8	6
	** MAII score	log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/24*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: CAMK2D [Title/Abstract] AND COPS7B [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CAMK2D	GO:0003254	regulation of membrane depolarization	22514276
Hgene	CAMK2D	GO:0006468	protein phosphorylation	17179159\|23283722
Hgene	CAMK2D	GO:0018105	peptidyl-serine phosphorylation	22514276\|23283722
Hgene	CAMK2D	GO:0018107	peptidyl-threonine phosphorylation	22514276\|23283722
Hgene	CAMK2D	GO:0046777	protein autophosphorylation	22514276
Hgene	CAMK2D	GO:0051259	protein complex oligomerization	20668654
Hgene	CAMK2D	GO:1901897	regulation of relaxation of cardiac muscle	23283722
Hgene	CAMK2D	GO:1902306	negative regulation of sodium ion transmembrane transport	22514276
Hgene	CAMK2D	GO:2000650	negative regulation of sodium ion transmembrane transporter activity	22514276
Tgene	COPS7B	GO:0000338	protein deneddylation	19141280

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			DA353944	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-5UTR	ENST00000394524	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394524	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394524	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000296402	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000296402	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000296402	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+

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FusionProtFeatures for CAMK2D_COPS7B

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
CAMK2D Q13557	COPS7B Q9H9Q2
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}.	Component of the COP9 signalosome complex (CSN), acomplex involved in various cellular and developmental processes.The CSN complex is an essential regulator of the ubiquitin (Ubl)conjugation pathway by mediating the deneddylation of the cullinsubunits of SCF-type E3 ligase complexes, leading to decrease theUbl ligase activity of SCF-type complexes such as SCF, CSA orDDB2. The complex is also involved in phosphorylation of p53/TP53,JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly viaits association with CK2 and PKD kinases. CSN-dependentphosphorylation of TP53 and JUN promotes and protects degradationby the Ubl system, respectively. {ECO:0000269\|PubMed:11285227,ECO:0000269\|PubMed:11337588, ECO:0000269\|PubMed:12628923,ECO:0000269\|PubMed:12732143}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for CAMK2D_COPS7B

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_COPS7B

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for CAMK2D_COPS7B

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CAMK2D_COPS7B

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CAMK2D	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	CAMK2D	C0032460	Polycystic Ovary Syndrome	1	CTD_human
Hgene	CAMK2D	C0151744	Myocardial Ischemia	1	CTD_human

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Fusion gene ID: 5354

FusionGeneSummary for CAMK2D_COPS7B

FusionProtFeatures for CAMK2D_COPS7B

FusionGeneSequence for CAMK2D_COPS7B

FusionGenePPI for CAMK2D_COPS7B

RelatedDrugs for CAMK2D_COPS7B

RelatedDiseases for CAMK2D_COPS7B