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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CAMK2D-COPS7B (FusionGDB2 ID:HG817TG64708)

Fusion Gene Summary for CAMK2D-COPS7B

Fusion gene summary

Fusion gene information	Fusion gene name: CAMK2D-COPS7B
	Fusion gene ID: hg817tg64708
		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	('CAMK2D')('COPS7B') 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	20200327	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000296402, ENST00000342666, ENST00000379773, ENST00000394522, ENST00000394524, ENST00000394526, ENST00000418639, ENST00000429180, ENST00000454265, ENST00000505990, ENST00000508738, ENST00000509907, ENST00000511664, ENST00000514328, ENST00000515496,
Fusion gene scores	* DoF score	10 X 12 X 8=960	4 X 5 X 3=60
	# samples	13	5
	** MAII score	log2(13/960*10)=-2.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CAMK2D [Title/Abstract] AND COPS7B [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CAMK2D(114419919)-COPS7B(232646440), # 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)

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: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 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	DA353944	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+

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Fusion Gene ORF analysis for CAMK2D-COPS7B

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	ENST00000296402	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000296402	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000296402	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000342666	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000379773	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394522	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394524	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394524	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394524	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000394526	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000418639	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000429180	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000454265	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000505990	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000508738	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000509907	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000511664	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000514328	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000409091	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000409295	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-5UTR	ENST00000515496	ENST00000410024	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000296402	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000342666	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000379773	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394522	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394524	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000394526	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000418639	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000429180	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000454265	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000505990	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000508738	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000509907	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000511664	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000514328	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000350033	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000373608	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+
intron-intron	ENST00000515496	ENST00000410017	CAMK2D	chr4	114419919	-	COPS7B	chr2	232646440	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for CAMK2D-COPS7B

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

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Fusion Protein Features for CAMK2D-COPS7B

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:114419919/:232646440)
- 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.

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

Hgene	Tgene
.	.
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}.	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}.

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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Fusion Gene Sequence for CAMK2D-COPS7B

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 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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Related Drugs for CAMK2D-COPS7B

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for CAMK2D-COPS7B

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CAMK2D	C0004238	Atrial Fibrillation	2	CTD_human
Hgene	CAMK2D	C0235480	Paroxysmal atrial fibrillation	2	CTD_human
Hgene	CAMK2D	C2585653	Persistent atrial fibrillation	2	CTD_human
Hgene	CAMK2D	C3468561	familial atrial fibrillation	2	CTD_human
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
Hgene	CAMK2D	C1136382	Sclerocystic Ovaries	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:CAMK2D-COPS7B (FusionGDB2 ID:HG817TG64708)

Fusion Gene Summary for CAMK2D-COPS7B

Fusion Gene ORF analysis for CAMK2D-COPS7B

Fusion Genomic Features for CAMK2D-COPS7B

Fusion Protein Features for CAMK2D-COPS7B

Fusion Gene Sequence for CAMK2D-COPS7B

Fusion Gene PPI Analysis for CAMK2D-COPS7B

Related Drugs for CAMK2D-COPS7B

Related Diseases for CAMK2D-COPS7B

Fusion Gene Studies
in Kim Lab