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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: 32459

FusionGeneSummary for RYR2_CC2D2A

check button Fusion gene summary
Fusion gene informationFusion gene name: RYR2_CC2D2A
Fusion gene ID: 32459
HgeneTgene
Gene symbol

RYR2

CC2D2A

Gene ID

6262

57545

Gene nameryanodine receptor 2coiled-coil and C2 domain containing 2A
SynonymsARVC2|ARVD2|RYR-2|RyR|VTSIPJBTS9|MKS6
Cytomap

1q43

4p15.32

Type of geneprotein-codingprotein-coding
Descriptionryanodine receptor 2cardiac muscle ryanodine receptor-calcium release channelcardiac-type ryanodine receptorislet-type ryanodine receptorkidney-type ryanodine receptorryanodine receptor 2 (cardiac)type 2 ryanodine receptorcoiled-coil and C2 domain-containing protein 2A
Modification date2018052320180519
UniProtAcc

Q92736

Q9P2K1

Ensembl transtripts involved in fusion geneENST00000366574, ENST00000360064, 
ENST00000542537, ENST00000609119, 
ENST00000424120, ENST00000413206, 
ENST00000503292, ENST00000389652, 
ENST00000438599, ENST00000511544, 
ENST00000513811, ENST00000507954, 
ENST00000515124, ENST00000503658, 
Fusion gene scores* DoF score6 X 6 X 3=1084 X 4 X 2=32
# samples 64
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RYR2 [Title/Abstract] AND CC2D2A [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
HgeneRYR2

GO:0005513

detection of calcium ion

10830164

HgeneRYR2

GO:0006816

calcium ion transport

17921453

HgeneRYR2

GO:0031000

response to caffeine

17921453

HgeneRYR2

GO:0035584

calcium-mediated signaling using intracellular calcium source

17921453

HgeneRYR2

GO:0051209

release of sequestered calcium ion into cytosol

12443530|17921453

HgeneRYR2

GO:0051284

positive regulation of sequestering of calcium ion

12443530|12919952

HgeneRYR2

GO:0051775

response to redox state

19226252

HgeneRYR2

GO:0060402

calcium ion transport into cytosol

17921453

HgeneRYR2

GO:0071313

cellular response to caffeine

12919952

HgeneRYR2

GO:0072599

establishment of protein localization to endoplasmic reticulum

12443530

HgeneRYR2

GO:1901896

positive regulation of calcium-transporting ATPase activity

12443530


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
ChiTaRS3.1BM671510RYR2chr1

237983527

+CC2D2Achr4

15483689

-
* 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-intronENST00000366574ENST00000424120RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000413206RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000503292RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000389652RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000366574ENST00000438599RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000366574ENST00000511544RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000513811RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000507954RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000366574ENST00000515124RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000366574ENST00000503658RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000424120RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000413206RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000503292RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000389652RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000360064ENST00000438599RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000360064ENST00000511544RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000513811RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000507954RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000360064ENST00000515124RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000360064ENST00000503658RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000424120RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000413206RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000503292RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000389652RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000542537ENST00000438599RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000542537ENST00000511544RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000513811RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000507954RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000542537ENST00000515124RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000542537ENST00000503658RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000424120RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000413206RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000503292RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000389652RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000609119ENST00000438599RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000609119ENST00000511544RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000513811RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000507954RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-3UTRENST00000609119ENST00000515124RYR2chr1

237983527

+CC2D2Achr4

15483689

-
intron-intronENST00000609119ENST00000503658RYR2chr1

237983527

+CC2D2Achr4

15483689

-

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FusionProtFeatures for RYR2_CC2D2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RYR2

Q92736

CC2D2A

Q9P2K1

Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm and thereby plays akey role in triggering cardiac muscle contraction. Aberrantchannel activation can lead to cardiac arrhythmia. In cardiacmyocytes, calcium release is triggered by increased Ca(2+) levelsdue to activation of the L-type calcium channel CACNA1C. Thecalcium channel activity is modulated by formation ofheterotetramers with RYR3. Required for cellular calcium ionhomeostasis. Required for embryonic heart development.{ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:20056922,ECO:0000269|PubMed:27733687}. Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for ciliogenesis andsonic hedgehog/SHH signaling (By similarity). {ECO:0000250,ECO:0000269|PubMed:18513680}.

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 RYR2_CC2D2A


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 RYR2_CC2D2A


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 RYR2_CC2D2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneRYR2Q92736DB09085TetracaineRyanodine receptor 2small moleculeapproved|vet_approved

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RelatedDiseases for RYR2_CC2D2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRYR2C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)12CTD_human;ORPHANET;UNIPROT
HgeneRYR2C0042514Tachycardia, Ventricular2CTD_human;HPO
HgeneRYR2C1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 22CTD_human;UNIPROT
HgeneRYR2C0039231Tachycardia1CTD_human
HgeneRYR2C0151744Myocardial Ischemia1CTD_human
HgeneRYR2C0345967Malignant mesothelioma1CTD_human
HgeneRYR2C0853897Diabetic Cardiomyopathies1CTD_human
HgeneRYR2C1510586Autism Spectrum Disorders1CTD_human
TgeneCC2D2AC2676788JOUBERT SYNDROME 9 (disorder)8CTD_human;UNIPROT
TgeneCC2D2AC1857662COACH syndrome2CTD_human;ORPHANET;UNIPROT
TgeneCC2D2AC2676790MECKEL SYNDROME, TYPE 6 (disorder)2CTD_human;UNIPROT