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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:SYNE1-CACNA1C

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SYNE1-CACNA1C
FusionPDB ID: 88402
FusionGDB2.0 ID: 88402
HgeneTgene
Gene symbol

SYNE1

CACNA1C

Gene ID

23345

775

Gene namespectrin repeat containing nuclear envelope protein 1calcium voltage-gated channel subunit alpha1 C
Synonyms8B|AMCM|ARCA1|C6orf98|CPG2|EDMD4|KASH1|MYNE1|Nesp1|SCAR8|dJ45H2.2CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8
Cytomap

6q25.2

12p13.33

Type of geneprotein-codingprotein-coding
Descriptionnesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1voltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent,
Modification date2020032020200315
UniProtAcc.

Q13936

Main function of 5'-partner protein: FUNCTION: Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:23677916). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable). {ECO:0000250|UniProtKB:P15381, ECO:0000269|PubMed:11741969, ECO:0000269|PubMed:12176756, ECO:0000269|PubMed:12181424, ECO:0000269|PubMed:15454078, ECO:0000269|PubMed:15863612, ECO:0000269|PubMed:16299511, ECO:0000269|PubMed:17071743, ECO:0000269|PubMed:17224476, ECO:0000269|PubMed:20953164, ECO:0000269|PubMed:23677916, ECO:0000269|PubMed:24728418, ECO:0000269|PubMed:26253506, ECO:0000269|PubMed:27218670, ECO:0000269|PubMed:28119464, ECO:0000269|PubMed:29078335, ECO:0000269|PubMed:29742403, ECO:0000269|PubMed:7737988, ECO:0000269|PubMed:8099908, ECO:0000269|PubMed:8392192, ECO:0000269|PubMed:9013606, ECO:0000269|PubMed:9087614, ECO:0000269|PubMed:9607315, ECO:0000305}.; FUNCTION: (Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930). {ECO:0000269|PubMed:29779930}.
Ensembl transtripts involved in fusion geneENST idsENST00000265368, ENST00000341594, 
ENST00000356820, ENST00000367255, 
ENST00000423061, ENST00000448038, 
ENST00000347037, ENST00000354674, 
ENST00000367248, ENST00000367253, 
ENST00000413186, ENST00000466159, 
ENST00000495090, ENST00000539504, 
ENST00000327702, ENST00000344100, 
ENST00000347598, ENST00000399591, 
ENST00000399595, ENST00000399597, 
ENST00000399601, ENST00000399603, 
ENST00000399606, ENST00000399617, 
ENST00000399621, ENST00000399629, 
ENST00000399634, ENST00000399637, 
ENST00000399638, ENST00000399641, 
ENST00000399644, ENST00000399649, 
ENST00000402845, ENST00000406454, 
ENST00000480911, ENST00000491104, 
ENST00000335762, ENST00000399655, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 15 X 6=117021 X 20 X 10=4200
# samples 1424
** MAII scorelog2(14/1170*10)=-3.0630097975258
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/4200*10)=-4.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SYNE1 [Title/Abstract] AND CACNA1C [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SYNE1 [Title/Abstract] AND CACNA1C [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SYNE1(152614723)-CACNA1C(2778099), # samples:2
Anticipated loss of major functional domain due to fusion event.SYNE1-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SYNE1-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SYNE1-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SYNE1-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SYNE1-CACNA1C seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SYNE1-CACNA1C seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneSYNE1

GO:0007030

Golgi organization

12808039

HgeneSYNE1

GO:0042692

muscle cell differentiation

11792814

HgeneSYNE1

GO:0090286

cytoskeletal anchoring at nuclear membrane

18396275

HgeneSYNE1

GO:0090292

nuclear matrix anchoring at nuclear membrane

11801724

TgeneCACNA1C

GO:0007204

positive regulation of cytosolic calcium ion concentration

12130699

TgeneCACNA1C

GO:0061577

calcium ion transmembrane transport via high voltage-gated calcium channel

15454078

TgeneCACNA1C

GO:0070588

calcium ion transmembrane transport

15454078



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:152614723/chr12:2778099)
- 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.
FGviewer

check buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across SYNE1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CACNA1C (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000367255SYNE1chr6152614723-ENST00000335762CACNA1Cchr122778099+2061918614602204076601
ENST00000367255SYNE1chr6152614723-ENST00000399655CACNA1Cchr122778099+2215118614602204076601
ENST00000356820SYNE1chr6152614723-ENST00000335762CACNA1Cchr122778099+370917046634971143
ENST00000356820SYNE1chr6152614723-ENST00000399655CACNA1Cchr122778099+524117046634971143
ENST00000448038SYNE1chr6152614723-ENST00000335762CACNA1Cchr122778099+2040618401602201946530
ENST00000448038SYNE1chr6152614723-ENST00000399655CACNA1Cchr122778099+2193818401602201946530
ENST00000341594SYNE1chr6152614723-ENST00000335762CACNA1Cchr122778099+1945517450602192436213
ENST00000341594SYNE1chr6152614723-ENST00000399655CACNA1Cchr122778099+2098717450602192436213
ENST00000265368SYNE1chr6152614723-ENST00000335762CACNA1Cchr122778099+2061918614602204076601
ENST00000265368SYNE1chr6152614723-ENST00000399655CACNA1Cchr122778099+2215118614602204076601

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000367255ENST00000335762SYNE1chr6152614723-CACNA1Cchr122778099+0.0074993720.9925006
ENST00000367255ENST00000399655SYNE1chr6152614723-CACNA1Cchr122778099+0.0055354170.9944646
ENST00000356820ENST00000335762SYNE1chr6152614723-CACNA1Cchr122778099+0.0089583290.9910417
ENST00000356820ENST00000399655SYNE1chr6152614723-CACNA1Cchr122778099+0.0023183490.9976816
ENST00000448038ENST00000335762SYNE1chr6152614723-CACNA1Cchr122778099+0.0075770260.992423
ENST00000448038ENST00000399655SYNE1chr6152614723-CACNA1Cchr122778099+0.0055972190.9944028
ENST00000341594ENST00000335762SYNE1chr6152614723-CACNA1Cchr122778099+0.0071032050.99289685
ENST00000341594ENST00000399655SYNE1chr6152614723-CACNA1Cchr122778099+0.0051776830.99482226
ENST00000265368ENST00000335762SYNE1chr6152614723-CACNA1Cchr122778099+0.0075877840.99241215
ENST00000265368ENST00000399655SYNE1chr6152614723-CACNA1Cchr122778099+0.0056119580.99438804

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for SYNE1-CACNA1C

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SYNE1chr6152614723CACNA1Cchr1227780991704545EPGRSPESQMAEHQRLVSMNMPLNSD
SYNE1chr6152614723CACNA1Cchr122778099174505615EPGRSPESQMAEHQRLVSMNMPLNSD
SYNE1chr6152614723CACNA1Cchr122778099184015932EPGRSPESQMAEHQRLVSMNMPLNSD
SYNE1chr6152614723CACNA1Cchr122778099186146003EPGRSPESQMAEHQRLVSMNMPLNSD

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Potential FusionNeoAntigen Information of SYNE1-CACNA1C in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
SYNE1-CACNA1C_152614723_2778099.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:01EHQRLVSM0.99970.53211119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:02EHQRLVSM0.99970.53211119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:01EHQRLVSM0.99970.77761119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:02EHQRLVSM0.99930.84361119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:01EHQRLVSM0.99930.81421119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B44:03AEHQRLVSM0.9990.84691019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B48:01SQMAEHQRL0.99870.5688716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:01HQRLVSMNM0.99870.73391221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:22QMAEHQRLV0.9980.5708817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B13:01AEHQRLVSM0.99740.86041019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:24SQMAEHQRL0.99680.5076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:02AEHQRLVSM0.99540.72641019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:01AEHQRLVSM0.99540.72641019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:02SQMAEHQRL0.99530.6076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:01SQMAEHQRL0.99530.6076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:11QMAEHQRLV0.99530.5527817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:13QMAEHQRLV0.99530.6703817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:01SQMAEHQRL0.99480.8076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B50:02AEHQRLVSM0.99470.5561019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:27QMAEHQRLV0.99440.5725817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:38QMAEHQRLV0.98320.694817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:35QMAEHQRLV0.97970.5432817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:20QMAEHQRLV0.97890.53817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B45:01AEHQRLVSM0.97760.82711019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:01AEHQRLVSM0.96860.81591019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:25HQRLVSMNM0.96110.84831221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:01SQMAEHQRL0.95840.8171716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:21SQMAEHQRL0.95430.6285716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:03SQMAEHQRL0.9460.6719716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B13:02SQMAEHQRL0.94320.5784716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:02HQRLVSMNM0.93770.8771221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:03HQRLVSMNM0.93480.62231221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B08:09AEHQRLVSM0.93370.55441019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B13:01SQMAEHQRL0.89460.9592716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:13SQMAEHQRL0.87010.8618716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:03AEHQRLVSM0.86740.56881019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:13AEHQRLVSM0.85020.85941019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:02SQMAEHQRL0.84210.9708716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:01SQMAEHQRL0.82020.964716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B41:01AEHQRLVSM0.8180.71361019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B50:01AEHQRLVSM0.6850.59221019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:37SQMAEHQRL0.63330.5533716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B13:02QMAEHQRLV0.29610.7428817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B52:01SQMAEHQRL0.16690.8617716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B13:02SQMAEHQRLV0.89250.8002717
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:12EHQRLVSM0.99970.77911119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:09EHQRLVSM0.99970.5731119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:05EHQRLVSM0.9990.7471119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:03EHQRLVSM0.93290.64151119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B40:06AEHQRLVSM0.99870.58811019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:03QMAEHQRLV0.99840.9936817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:05QMAEHQRLV0.9970.6636817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:07HQRLVSMNM0.99380.53481221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:04HQRLVSMNM0.98920.74431221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:12SQMAEHQRL0.96670.8429716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:09SQMAEHQRL0.95960.5646716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:04SQMAEHQRL0.95560.9143716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:21HQRLVSMNM0.93510.82451221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:08AEHQRLVSM0.92660.87351019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:08SQMAEHQRL0.9120.8291716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:09AEHQRLVSM0.88260.66611019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:03AEHQRLVSM0.8760.75671019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:05SQMAEHQRL0.84480.8078716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:12AEHQRLVSM0.84230.81061019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:04AEHQRLVSM0.82720.69351019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:05SQMAEHQRL0.79640.9098716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B14:03SQMAEHQRL0.75880.6863716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:31EHQRLVSM0.99970.77271119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:05EHQRLVSM0.99930.81421119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:11EHQRLVSM0.9950.65191119
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B44:13AEHQRLVSM0.9990.84691019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B40:04AEHQRLVSM0.9990.67961019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B44:26AEHQRLVSM0.9990.84691019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B44:07AEHQRLVSM0.9990.84691019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:27HQRLVSMNM0.99870.71931221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:33HQRLVSMNM0.99870.73391221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:34HQRLVSMNM0.99870.73391221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:125HQRLVSMNM0.99870.73391221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:135HQRLVSMNM0.99870.7381221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:03QMAEHQRLV0.99840.702817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:50HQRLVSMNM0.99760.75811221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:24SQMAEHQRL0.99590.8911716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:50SQMAEHQRL0.99520.8242716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:135SQMAEHQRL0.99480.9009716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:125SQMAEHQRL0.99480.8076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:33SQMAEHQRL0.99480.8076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:34SQMAEHQRL0.99480.8076716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:53HQRLVSMNM0.99440.71091221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:27SQMAEHQRL0.99420.8884716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:17QMAEHQRLV0.99380.9918817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:35HQRLVSMNM0.99380.67381221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:02QMAEHQRLV0.99380.9918817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:06SQMAEHQRL0.98960.9864716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:54HQRLVSMNM0.98880.68711221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C07:04SQMAEHQRL0.9870.9312716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:04AEHQRLVSM0.97970.82611019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:07AEHQRLVSM0.97690.74381019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:02SQMAEHQRL0.97530.8703716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:06AEHQRLVSM0.97360.83771019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:08AEHQRLVSM0.97250.76731019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:12SQMAEHQRL0.96930.7775716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:73SQMAEHQRL0.96920.779716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:05AEHQRLVSM0.96860.81591019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:39HQRLVSMNM0.96380.68191221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:11AEHQRLVSM0.96070.80011019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:31SQMAEHQRL0.96050.8456716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:73HQRLVSMNM0.95660.8461221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B18:03AEHQRLVSM0.95660.79861019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:06SQMAEHQRL0.95430.6285716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:30SQMAEHQRL0.94910.7823716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:06QMAEHQRLV0.94460.9892817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B41:03AEHQRLVSM0.92580.55511019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:11AEHQRLVSM0.91590.76931019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:54AEHQRLVSM0.90840.62581019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:68SQMAEHQRL0.90840.5944716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:30HQRLVSMNM0.90730.77991221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:53SQMAEHQRL0.8960.7526716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B48:02SQMAEHQRL0.89060.9421716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:11SQMAEHQRL0.88470.8164716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:12AEHQRLVSM0.87920.64911019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:02AEHQRLVSM0.87760.85511019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:53AEHQRLVSM0.86420.65871019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:12HQRLVSMNM0.85860.6721221
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B39:31AEHQRLVSM0.85740.80791019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:54SQMAEHQRL0.8260.7326716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B38:05SQMAEHQRL0.82020.964716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:73AEHQRLVSM0.80960.73621019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:30AEHQRLVSM0.78740.711019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:20SQMAEHQRL0.7780.9407716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B35:28SQMAEHQRL0.77540.9485716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B50:05AEHQRLVSM0.6850.59221019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B50:04AEHQRLVSM0.6850.59221019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B15:09SQMAEHQRL0.67120.7234716
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B48:02AEHQRLVSM0.66160.74061019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-C06:08QMAEHQRLV0.5350.9859817
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-B35:28AEHQRLVSM0.45890.75871019
SYNE1-CACNA1Cchr6152614723chr12277809918614HLA-A02:03SQMAEHQRLV0.9780.6904717

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Potential FusionNeoAntigen Information of SYNE1-CACNA1C in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Fusion breakpoint peptide structures of SYNE1-CACNA1C

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
2140ESQMAEHQRLVSMNSYNE1CACNA1Cchr6152614723chr12277809918614

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SYNE1-CACNA1C

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN2140ESQMAEHQRLVSMN-7.15543-7.26883
HLA-B14:023BVN2140ESQMAEHQRLVSMN-4.77435-5.80965
HLA-B52:013W392140ESQMAEHQRLVSMN-6.80875-6.92215
HLA-B52:013W392140ESQMAEHQRLVSMN-4.20386-5.23916
HLA-A11:014UQ22140ESQMAEHQRLVSMN-7.5194-8.5547
HLA-A11:014UQ22140ESQMAEHQRLVSMN-6.9601-7.0735
HLA-A24:025HGA2140ESQMAEHQRLVSMN-7.52403-7.63743
HLA-A24:025HGA2140ESQMAEHQRLVSMN-5.82433-6.85963
HLA-B27:056PYJ2140ESQMAEHQRLVSMN-3.28285-4.31815
HLA-B44:053DX82140ESQMAEHQRLVSMN-5.91172-6.94702
HLA-B44:053DX82140ESQMAEHQRLVSMN-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of SYNE1-CACNA1C

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
SYNE1-CACNA1Cchr6152614723chr1227780991019AEHQRLVSMGAACATCAGCGCCTGGTCTCCATGAAC
SYNE1-CACNA1Cchr6152614723chr1227780991119EHQRLVSMCATCAGCGCCTGGTCTCCATGAAC
SYNE1-CACNA1Cchr6152614723chr1227780991221HQRLVSMNMCAGCGCCTGGTCTCCATGAACATGCCT
SYNE1-CACNA1Cchr6152614723chr122778099716SQMAEHQRLCAGATGGCTGAACATCAGCGCCTGGTC
SYNE1-CACNA1Cchr6152614723chr122778099717SQMAEHQRLVCAGATGGCTGAACATCAGCGCCTGGTCTCC
SYNE1-CACNA1Cchr6152614723chr122778099817QMAEHQRLVATGGCTGAACATCAGCGCCTGGTCTCC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence

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Information of the samples that have these potential fusion neoantigens of SYNE1-CACNA1C

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
BRCASYNE1-CACNA1Cchr6152614723ENST00000265368chr122778099ENST00000335762TCGA-C8-A1HJ-01A

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Potential target of CAR-T therapy development for SYNE1-CACNA1C

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to SYNE1-CACNA1C

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SYNE1-CACNA1C

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource