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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: 36813

FusionGeneSummary for SUSD4_RYR2

check button Fusion gene summary
Fusion gene informationFusion gene name: SUSD4_RYR2
Fusion gene ID: 36813
HgeneTgene
Gene symbol

SUSD4

RYR2

Gene ID

55061

6262

Gene namesushi domain containing 4ryanodine receptor 2
SynonymsPRO222ARVC2|ARVD2|RYR-2|RyR|VTSIP
Cytomap

1q41

1q43

Type of geneprotein-codingprotein-coding
Descriptionsushi domain-containing protein 4YHGM196testicular secretory protein Li 55ryanodine receptor 2cardiac muscle ryanodine receptor-calcium release channelcardiac-type ryanodine receptorislet-type ryanodine receptorkidney-type ryanodine receptorryanodine receptor 2 (cardiac)type 2 ryanodine receptor
Modification date2018051920180523
UniProtAcc

Q5VX71

Q92736

Ensembl transtripts involved in fusion geneENST00000343846, ENST00000366878, 
ENST00000484758, ENST00000494793, 
ENST00000478605, ENST00000454695, 
ENST00000344029, ENST00000366877, 
ENST00000366574, ENST00000360064, 
ENST00000542537, ENST00000609119, 
Fusion gene scores* DoF score4 X 2 X 3=245 X 5 X 2=50
# samples 47
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/50*10)=0.485426827170242
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SUSD4 [Title/Abstract] AND RYR2 [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
HgeneSUSD4

GO:0030449

regulation of complement activation

23482636

TgeneRYR2

GO:0005513

detection of calcium ion

10830164

TgeneRYR2

GO:0006816

calcium ion transport

17921453

TgeneRYR2

GO:0031000

response to caffeine

17921453

TgeneRYR2

GO:0035584

calcium-mediated signaling using intracellular calcium source

17921453

TgeneRYR2

GO:0051209

release of sequestered calcium ion into cytosol

12443530|17921453

TgeneRYR2

GO:0051284

positive regulation of sequestering of calcium ion

12443530|12919952

TgeneRYR2

GO:0051775

response to redox state

19226252

TgeneRYR2

GO:0060402

calcium ion transport into cytosol

17921453

TgeneRYR2

GO:0071313

cellular response to caffeine

12919952

TgeneRYR2

GO:0072599

establishment of protein localization to endoplasmic reticulum

12443530

TgeneRYR2

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
TCGALDBRCATCGA-BH-A1FD-01ASUSD4chr1

223536620

-RYR2chr1

237664011

+
* 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
Frame-shiftENST00000343846ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000343846ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000343846ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000343846ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366878ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366878ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366878ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000366878ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000484758ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000484758ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000484758ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000484758ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000494793ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000494793ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000494793ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000494793ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000478605ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000478605ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000478605ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-intronENST00000478605ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000454695ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000454695ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-3CDSENST00000454695ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5UTR-intronENST00000454695ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000344029ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000344029ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000344029ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000344029ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366877ENST00000366574SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366877ENST00000360064SUSD4chr1

223536620

-RYR2chr1

237664011

+
Frame-shiftENST00000366877ENST00000542537SUSD4chr1

223536620

-RYR2chr1

237664011

+
5CDS-intronENST00000366877ENST00000609119SUSD4chr1

223536620

-RYR2chr1

237664011

+

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FusionProtFeatures for SUSD4_RYR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SUSD4

Q5VX71

RYR2

Q92736

Acts as complement inhibitor by disrupting the formationof the classical C3 convertase. Isoform 3 inhibits the classicalcomplement pathway, while membrane-bound isoform 1 inhibitsdeposition of C3b via both the classical and alternativecomplement pathways. {ECO:0000269|PubMed:23482636}. 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}.

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 SUSD4_RYR2


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 SUSD4_RYR2


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
SUSD4CNTNAP3, NNT, ATP12A, FAT1, LRP5, FRAS1, ITGAV, HSD17B8, NID2, ENTPD6, ARSK, LAMA5, GFPT2, KDELC2, TXNDC11, ITGA8, DHPS, NAGLU, CCDC85C, PLXNA2, PLXNA1, ITGA7, KIAA1467, CTSF, ADAMTS2, NLGN2, CACNA2D1, PAM, FUT11, IL17RA, POGLUT1, TOR3A, CERCAM, ARSB, MOXD1, PCOLCE2, MAN2A2, WDR34, HAPLN3, TCTN1, TXNDC16, ECE1, TUBB3, TUBA4A, ARSARYR2HOMER1, PRKACA, PRKACG, PRKACB, RYR2, PRKAR2A, PRKAR2B, PPP1CA, PPP1CB, PPP1CC, AKAP6, RYR3, RYR1, SRI, CACNA1C, FKBP1B, TERF1, TERF2, ALB, SMAD5, CFTR, CALM1, SNTA1, MDM2, HSPB2, PSEN1, TRIM25


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 SUSD4_RYR2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRYR2Q92736DB09085TetracaineRyanodine receptor 2small moleculeapproved|vet_approved

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RelatedDiseases for SUSD4_RYR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRYR2C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)12CTD_human;ORPHANET;UNIPROT
TgeneRYR2C0042514Tachycardia, Ventricular2CTD_human;HPO
TgeneRYR2C1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 22CTD_human;UNIPROT
TgeneRYR2C0039231Tachycardia1CTD_human
TgeneRYR2C0151744Myocardial Ischemia1CTD_human
TgeneRYR2C0345967Malignant mesothelioma1CTD_human
TgeneRYR2C0853897Diabetic Cardiomyopathies1CTD_human
TgeneRYR2C1510586Autism Spectrum Disorders1CTD_human