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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:ETV1-CACNA2D1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ETV1-CACNA2D1
FusionPDB ID: 27681
FusionGDB2.0 ID: 27681
HgeneTgene
Gene symbol

ETV1

CACNA2D1

Gene ID

2115

781

Gene nameETS variant transcription factor 1calcium voltage-gated channel auxiliary subunit alpha2delta 1
SynonymsER81CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3
Cytomap

7p21.2

7q21.11

Type of geneprotein-codingprotein-coding
DescriptionETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81voltage-dependent calcium channel subunit alpha-2/delta-1calcium channel, L type, alpha 2 polypeptidecalcium channel, voltage-dependent, alpha 2/delta subunit 1dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunitvoltage-gated calciu
Modification date2020031320200313
UniProtAcc

P50549

Main function of 5'-partner protein: FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity). {ECO:0000250|UniProtKB:P41164, ECO:0000269|PubMed:7651741}.

P54289

Main function of 5'-partner protein: FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity). {ECO:0000250}.
Ensembl transtripts involved in fusion geneENST idsENST00000399357, ENST00000403527, 
ENST00000405192, ENST00000405218, 
ENST00000405358, ENST00000430479, 
ENST00000476720, ENST00000242066, 
ENST00000343495, ENST00000403685, 
ENST00000420159, 
ENST00000464354, 
ENST00000535308, ENST00000356253, 
ENST00000356860, ENST00000423588, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 2=187 X 10 X 3=210
# samples 310
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/210*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ETV1 [Title/Abstract] AND CACNA2D1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ETV1 [Title/Abstract] AND CACNA2D1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ETV1(14017052)-CACNA2D1(81695840), # samples:2
Anticipated loss of major functional domain due to fusion event.ETV1-CACNA2D1 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.
ETV1-CACNA2D1 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.
ETV1-CACNA2D1 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.
ETV1-CACNA2D1 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.
ETV1-CACNA2D1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ETV1-CACNA2D1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ETV1-CACNA2D1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneETV1

GO:0045944

positive regulation of transcription by RNA polymerase II

12750007

TgeneCACNA2D1

GO:0006816

calcium ion transport

1309651|11160515

TgeneCACNA2D1

GO:0051924

regulation of calcium ion transport

1309651



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/chr7:14017052/chr7:81695840)
- 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 ETV1 (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 CACNA2D1 (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)
ENST00000399357ETV1chr714017052-ENST00000356860CACNA2D1chr781695840-70194533383070910
ENST00000399357ETV1chr714017052-ENST00000356253CACNA2D1chr781695840-33974533383106922
ENST00000399357ETV1chr714017052-ENST00000423588CACNA2D1chr781695840-967453338724128
ENST00000405192ETV1chr714017052-ENST00000356860CACNA2D1chr781695840-70024361773053958
ENST00000405192ETV1chr714017052-ENST00000356253CACNA2D1chr781695840-33804361773089970
ENST00000405192ETV1chr714017052-ENST00000423588CACNA2D1chr781695840-950436177707176
ENST00000405358ETV1chr714017052-ENST00000356860CACNA2D1chr781695840-6950384683001977
ENST00000405358ETV1chr714017052-ENST00000356253CACNA2D1chr781695840-3328384683037989
ENST00000405358ETV1chr714017052-ENST00000423588CACNA2D1chr781695840-89838468655195
ENST00000403527ETV1chr714017052-ENST00000356860CACNA2D1chr781695840-70194533383070910
ENST00000403527ETV1chr714017052-ENST00000356253CACNA2D1chr781695840-33974533383106922
ENST00000403527ETV1chr714017052-ENST00000423588CACNA2D1chr781695840-967453338724128
ENST00000405218ETV1chr714017052-ENST00000356860CACNA2D1chr781695840-72737074483324958
ENST00000405218ETV1chr714017052-ENST00000356253CACNA2D1chr781695840-36517074483360970
ENST00000405218ETV1chr714017052-ENST00000423588CACNA2D1chr781695840-1221707448978176

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
ENST00000399357ENST00000356860ETV1chr714017052-CACNA2D1chr781695840-4.86E-050.99995136
ENST00000399357ENST00000356253ETV1chr714017052-CACNA2D1chr781695840-9.33E-050.99990666
ENST00000399357ENST00000423588ETV1chr714017052-CACNA2D1chr781695840-0.011689670.98831034
ENST00000405192ENST00000356860ETV1chr714017052-CACNA2D1chr781695840-3.48E-050.9999652
ENST00000405192ENST00000356253ETV1chr714017052-CACNA2D1chr781695840-0.0001014270.99989855
ENST00000405192ENST00000423588ETV1chr714017052-CACNA2D1chr781695840-0.0038906770.9961093
ENST00000405358ENST00000356860ETV1chr714017052-CACNA2D1chr781695840-1.98E-050.9999802
ENST00000405358ENST00000356253ETV1chr714017052-CACNA2D1chr781695840-6.77E-050.9999323
ENST00000405358ENST00000423588ETV1chr714017052-CACNA2D1chr781695840-0.0016672190.9983328
ENST00000403527ENST00000356860ETV1chr714017052-CACNA2D1chr781695840-4.86E-050.99995136
ENST00000403527ENST00000356253ETV1chr714017052-CACNA2D1chr781695840-9.33E-050.99990666
ENST00000403527ENST00000423588ETV1chr714017052-CACNA2D1chr781695840-0.011689670.98831034
ENST00000405218ENST00000356860ETV1chr714017052-CACNA2D1chr781695840-3.86E-050.9999614
ENST00000405218ENST00000356253ETV1chr714017052-CACNA2D1chr781695840-0.0001296390.9998703
ENST00000405218ENST00000423588ETV1chr714017052-CACNA2D1chr781695840-0.0040223380.9959777

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 ETV1-CACNA2D1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ETV1chr714017052CACNA2D1chr781695840384106DEQFVPDYQAESSSPWVDNSRTPNKI
ETV1chr714017052CACNA2D1chr78169584043687DEQFVPDYQAESSSPWVDNSRTPNKI
ETV1chr714017052CACNA2D1chr78169584045339DEQFVPDYQAESSSPWVDNSRTPNKI
ETV1chr714017052CACNA2D1chr78169584070787DEQFVPDYQAESSSPWVDNSRTPNKI

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Potential FusionNeoAntigen Information of ETV1-CACNA2D1 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.
ETV1-CACNA2D1_14017052_81695840.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)
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:01YQAESSSPW0.9850.9089716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:25YQAESSSPW0.87220.9367716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:02YQAESSSPW0.86720.9495716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A31:08YQAESSSPW0.62820.5201716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:03YQAESSSPW0.59490.8425716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:18YQAESSSPW0.5380.7772716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A32:13YQAESSSPW0.42430.971716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B38:01YQAESSSPW0.32760.9763716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B38:02YQAESSSPW0.3130.9822716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B13:01YQAESSSPW0.28010.9848716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B46:01YQAESSSPW0.15170.534716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A02:21YQAESSSPWV0.96540.6271717
ETV1-CACNA2D1chr714017052chr781695840453HLA-A31:02SSSPWVDNSR0.93190.55771121
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:07YQAESSSPW0.91910.8349716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:21YQAESSSPW0.87080.9122716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:05YQAESSSPW0.77290.8898716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:31YQAESSSPW0.74380.9006716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B44:08YQAESSSPW0.6390.5636716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B48:03YQAESSSPW0.18370.7718716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A02:05YQAESSSPWV0.98880.5127717
ETV1-CACNA2D1chr714017052chr781695840453HLA-A31:01SSSPWVDNSR0.93440.51041121
ETV1-CACNA2D1chr714017052chr781695840453HLA-B44:08DYQAESSSPW0.64670.5591616
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:24YQAESSSPW0.9980.966716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:27YQAESSSPW0.98610.9202716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:34YQAESSSPW0.9850.9089716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:33YQAESSSPW0.9850.9089716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:125YQAESSSPW0.9850.9089716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:135YQAESSSPW0.98480.917716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:53YQAESSSPW0.98290.8941716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:50YQAESSSPW0.97430.8951716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:13YQAESSSPW0.96790.9076716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:35YQAESSSPW0.96630.9267716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:39YQAESSSPW0.87680.8913716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:12YQAESSSPW0.86490.8586716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:20YQAESSSPW0.77950.9152716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:54YQAESSSPW0.77350.8721716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B35:28YQAESSSPW0.75060.9225716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B35:20YQAESSSPW0.73420.926716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:73YQAESSSPW0.65110.9633716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A32:01YQAESSSPW0.62670.9687716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B53:02YQAESSSPW0.61910.668716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B48:02YQAESSSPW0.61360.9108716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:68YQAESSSPW0.60810.7653716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:30YQAESSSPW0.55270.8901716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B18:04YQAESSSPW0.49720.8743716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B38:05YQAESSSPW0.32760.9763716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B40:21YQAESSSPW0.2650.7951716
ETV1-CACNA2D1chr714017052chr781695840453HLA-C02:02YQAESSSPW0.23540.9742716
ETV1-CACNA2D1chr714017052chr781695840453HLA-C02:10YQAESSSPW0.23540.9742716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A25:01YQAESSSPW0.18910.9461716
ETV1-CACNA2D1chr714017052chr781695840453HLA-B40:12YQAESSSPW0.18370.7718716
ETV1-CACNA2D1chr714017052chr781695840453HLA-A02:06YQAESSSPWV0.96540.6271717
ETV1-CACNA2D1chr714017052chr781695840453HLA-B15:13DYQAESSSPW0.68040.9348616

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Potential FusionNeoAntigen Information of ETV1-CACNA2D1 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.
ETV1-CACNA2D1_14017052_81695840.msa

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)
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0305DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0305EQFVPDYQAESSSPW116
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0338DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0340DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0401DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0433DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0434DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0434EQFVPDYQAESSSPW116
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0435DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0462DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0463DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0464DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0466DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0466EQFVPDYQAESSSPW116
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0472DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0476DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-0840DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1153DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1173DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1179DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1303DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-13101DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1310DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1333DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1337DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1385DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1388DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1390DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1395DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1402DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1409DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1413DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1419DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1430DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1441DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1446DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1447DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1449DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1451DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB1-1494DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0101DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0104DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0105DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0108DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0109DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0111DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0112DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0113DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0114DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0213DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0217DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0219DEQFVPDYQAESSSP015
ETV1-CACNA2D1chr714017052chr781695840453DRB3-0222DEQFVPDYQAESSSP015

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Fusion breakpoint peptide structures of ETV1-CACNA2D1

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
1495DYQAESSSPWVDNSETV1CACNA2D1chr714017052chr781695840453

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ETV1-CACNA2D1

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-B14:023BVN1495DYQAESSSPWVDNS-7.15543-7.26883
HLA-B14:023BVN1495DYQAESSSPWVDNS-4.77435-5.80965
HLA-B52:013W391495DYQAESSSPWVDNS-6.80875-6.92215
HLA-B52:013W391495DYQAESSSPWVDNS-4.20386-5.23916
HLA-A11:014UQ21495DYQAESSSPWVDNS-7.5194-8.5547
HLA-A11:014UQ21495DYQAESSSPWVDNS-6.9601-7.0735
HLA-A24:025HGA1495DYQAESSSPWVDNS-7.52403-7.63743
HLA-A24:025HGA1495DYQAESSSPWVDNS-5.82433-6.85963
HLA-B27:056PYJ1495DYQAESSSPWVDNS-3.28285-4.31815
HLA-B44:053DX81495DYQAESSSPWVDNS-5.91172-6.94702
HLA-B44:053DX81495DYQAESSSPWVDNS-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of ETV1-CACNA2D1

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
ETV1-CACNA2D1chr714017052chr7816958401121SSSPWVDNSRAAAGTTCTTCACCATGGGTTGATAATAGTA
ETV1-CACNA2D1chr714017052chr781695840616DYQAESSSPWCAGACTATCAGGCTGAAAGTTCTTCACCAT
ETV1-CACNA2D1chr714017052chr781695840716YQAESSSPWACTATCAGGCTGAAAGTTCTTCACCAT
ETV1-CACNA2D1chr714017052chr781695840717YQAESSSPWVACTATCAGGCTGAAAGTTCTTCACCATGGG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
ETV1-CACNA2D1chr714017052chr781695840015DEQFVPDYQAESSSPATGATGAGCAGTTTGTACCAGACTATCAGGCTGAAAGTTCTTCAC
ETV1-CACNA2D1chr714017052chr781695840116EQFVPDYQAESSSPWATGAGCAGTTTGTACCAGACTATCAGGCTGAAAGTTCTTCACCAT

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Information of the samples that have these potential fusion neoantigens of ETV1-CACNA2D1

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
SARCETV1-CACNA2D1chr714017052ENST00000399357chr781695840ENST00000356253TCGA-3B-A9HV-01A

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Potential target of CAR-T therapy development for ETV1-CACNA2D1

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
TgeneCACNA2D1chr7:14017052chr7:81695840ENST000003562536391074_109401104.0TransmembraneHelical
TgeneCACNA2D1chr7:14017052chr7:81695840ENST000003568606391074_109401092.0TransmembraneHelical

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 ETV1-CACNA2D1

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 ETV1-CACNA2D1

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
HgeneETV1C0033578Prostatic Neoplasms3CTD_human
HgeneETV1C0376358Malignant neoplasm of prostate3CTD_human
HgeneETV1C0009402Colorectal Carcinoma1CTD_human
HgeneETV1C0009404Colorectal Neoplasms1CTD_human