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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:PRPF18-CACNB2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PRPF18-CACNB2
FusionPDB ID: 69005
FusionGDB2.0 ID: 69005
HgeneTgene
Gene symbol

PRPF18

CACNB2

Gene ID

8559

783

Gene namepre-mRNA processing factor 18calcium voltage-gated channel auxiliary subunit beta 2
SynonymsPRP18|hPrp18CAB2|CACNLB2|CAVB2|MYSB
Cytomap

10p13

10p12.33-p12.31

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-splicing factor 18PRP18 homologPRP18 pre-mRNA processing factor 18 homologPRP18 pre-mRNA processing factor 18 homolog(PRPF18)voltage-dependent L-type calcium channel subunit beta-2calcium channel voltage-dependent subunit beta 2calcium channel, voltage-dependent, beta 2 subunitlambert-Eaton myasthenic syndrome antigen Bmyasthenic (Lambert-Eaton) syndrome antigen B
Modification date2020031320200322
UniProtAcc.

Q08289

Main function of 5'-partner protein: FUNCTION: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.
Ensembl transtripts involved in fusion geneENST idsENST00000378572, ENST00000467034, 
ENST00000377315, ENST00000377319, 
ENST00000377329, ENST00000396576, 
ENST00000282343, ENST00000324631, 
ENST00000352115, ENST00000377328, 
ENST00000377331, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 4=12015 X 16 X 3=720
# samples 616
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PRPF18 [Title/Abstract] AND CACNB2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PRPF18 [Title/Abstract] AND CACNB2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PRPF18(13647744)-CACNB2(18439812), # samples:3
Anticipated loss of major functional domain due to fusion event.PRPF18-CACNB2 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.
PRPF18-CACNB2 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.
* 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
TgeneCACNB2

GO:0051928

positive regulation of calcium ion transport

1309651

TgeneCACNB2

GO:0070509

calcium ion import

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/chr10:13647744/chr10:18439812)
- 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 PRPF18 (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 CACNB2 (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)
ENST00000378572PRPF18chr1013647744+ENST00000324631CACNB2chr1018439812+37895231602385741
ENST00000378572PRPF18chr1013647744+ENST00000377328CACNB2chr1018439812+16365231601635492
ENST00000378572PRPF18chr1013647744+ENST00000352115CACNB2chr1018439812+23145231602313718
ENST00000378572PRPF18chr1013647744+ENST00000282343CACNB2chr1018439812+37895231602385741
ENST00000378572PRPF18chr1013647744+ENST00000377331CACNB2chr1018439812+23145231602313718

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
ENST00000378572ENST00000324631PRPF18chr1013647744+CACNB2chr1018439812+0.0004112710.9995888
ENST00000378572ENST00000377328PRPF18chr1013647744+CACNB2chr1018439812+0.0029965860.9970034
ENST00000378572ENST00000352115PRPF18chr1013647744+CACNB2chr1018439812+0.0028483260.9971517
ENST00000378572ENST00000282343PRPF18chr1013647744+CACNB2chr1018439812+0.0004112710.9995888
ENST00000378572ENST00000377331PRPF18chr1013647744+CACNB2chr1018439812+0.0028483260.9971517

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 PRPF18-CACNB2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PRPF18chr1013647744CACNB2chr1018439812523121LRKIEILTPEVNKSYGKGARRKNRFK

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Potential FusionNeoAntigen Information of PRPF18-CACNB2 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.
PRPF18-CACNB2_13647744_18439812.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)
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:01TPEVNKSY0.98250.9041715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:08TPEVNKSY0.97470.8886715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:05TPEVNKSY0.97250.6348715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A30:08KSYGKGARR0.99380.52171221
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:01LTPEVNKSY0.98250.889615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:02LTPEVNKSY0.90320.9477615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:17LTPEVNKSY0.89110.9141615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:16LTPEVNKSY0.66390.6698615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:01ILTPEVNKSY0.99960.8915515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A30:08KSYGKGARRK0.99670.5691222
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:25ILTPEVNKSY0.98640.9241515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:02ILTPEVNKSY0.95970.9375515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:05LTPEVNKSY0.86590.8973615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:31LTPEVNKSY0.75610.9076615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C15:04LTPEVNKSY0.54980.934615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C03:14LTPEVNKSY0.08340.9825615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C12:04LTPEVNKSY0.06920.9964615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C06:03LTPEVNKSY0.050.9955615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C12:12LTPEVNKSY0.04860.9361615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:07ILTPEVNKSY0.99910.6614515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:05ILTPEVNKSY0.89430.902515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:31ILTPEVNKSY0.84070.9121515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:77TPEVNKSY0.98250.9041715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:11TPEVNKSY0.98160.9223715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:30TPEVNKSY0.97710.7986715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:17TPEVNKSY0.97710.7986715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:24TPEVNKSY0.97020.8977715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B18:07TPEVNKSY0.8070.9029715
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A30:01KSYGKGARR0.9950.68331221
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:27LTPEVNKSY0.98350.8803615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:33LTPEVNKSY0.98250.889615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:125LTPEVNKSY0.98250.889615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:34LTPEVNKSY0.98250.889615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:135LTPEVNKSY0.97910.8829615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:11LTPEVNKSY0.96180.8437615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:08LTPEVNKSY0.95890.8509615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B35:43LTPEVNKSY0.93610.8574615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:12LTPEVNKSY0.90980.9001615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:20LTPEVNKSY0.87590.9322615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C03:02LTPEVNKSY0.70690.967615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B57:04LTPEVNKSY0.69470.6973615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B58:06LTPEVNKSY0.59990.7487615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C15:09LTPEVNKSY0.54980.934615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C12:02LTPEVNKSY0.47340.9776615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A25:01LTPEVNKSY0.36780.8544615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C16:04LTPEVNKSY0.1740.9875615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C12:03LTPEVNKSY0.09740.9851615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C16:02LTPEVNKSY0.03430.991615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C16:01LTPEVNKSY0.02230.9798615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C02:10LTPEVNKSY0.00140.985615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-C02:02LTPEVNKSY0.00140.985615
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:33ILTPEVNKSY0.99960.8915515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:50ILTPEVNKSY0.99960.9601515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:34ILTPEVNKSY0.99960.8915515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:125ILTPEVNKSY0.99960.8915515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:27ILTPEVNKSY0.99950.8779515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:135ILTPEVNKSY0.99950.8824515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:35ILTPEVNKSY0.99910.858515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:12ILTPEVNKSY0.99880.8532515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A30:01KSYGKGARRK0.99670.73491222
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:39ILTPEVNKSY0.98570.8201515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-B15:20ILTPEVNKSY0.90090.9332515
PRPF18-CACNB2chr1013647744chr1018439812523HLA-A25:01EILTPEVNKSY0.97740.9067415

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Potential FusionNeoAntigen Information of PRPF18-CACNB2 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.
PRPF18-CACNB2_13647744_18439812.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)
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1001LRKIEILTPEVNKSY015
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1001RKIEILTPEVNKSYG116
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1002LRKIEILTPEVNKSY015
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1002RKIEILTPEVNKSYG116
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1003LRKIEILTPEVNKSY015
PRPF18-CACNB2chr1013647744chr1018439812523DRB1-1003RKIEILTPEVNKSYG116

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Fusion breakpoint peptide structures of PRPF18-CACNB2

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
5736LTPEVNKSYGKGARPRPF18CACNB2chr1013647744chr1018439812523

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PRPF18-CACNB2

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-B57:032BVO5736LTPEVNKSYGKGAR-3.01019-4.04549
HLA-A03:012XPG5736LTPEVNKSYGKGAR-6.28383-7.31913
HLA-A03:012XPG5736LTPEVNKSYGKGAR-5.59305-5.70645
HLA-B14:023BVN5736LTPEVNKSYGKGAR-4.73996-4.85336
HLA-B14:023BVN5736LTPEVNKSYGKGAR-3.09097-4.12627
HLA-B52:013W395736LTPEVNKSYGKGAR-5.54594-5.65934
HLA-B52:013W395736LTPEVNKSYGKGAR-3.57843-4.61373
HLA-B18:014JQV5736LTPEVNKSYGKGAR-5.65575-5.76915
HLA-B18:014JQV5736LTPEVNKSYGKGAR-3.07606-4.11136
HLA-A11:014UQ25736LTPEVNKSYGKGAR-9.68638-9.79978
HLA-A11:014UQ25736LTPEVNKSYGKGAR-6.73518-7.77048
HLA-A24:025HGA5736LTPEVNKSYGKGAR-6.73076-6.84416
HLA-A24:025HGA5736LTPEVNKSYGKGAR-4.20633-5.24163
HLA-B27:056PYJ5736LTPEVNKSYGKGAR-4.80839-4.92179
HLA-B27:056PYJ5736LTPEVNKSYGKGAR-4.77877-5.81407
HLA-B27:036PZ55736LTPEVNKSYGKGAR-3.90263-4.93793
HLA-B44:053DX85736LTPEVNKSYGKGAR-5.97396-6.08736
HLA-B44:053DX85736LTPEVNKSYGKGAR-5.02247-6.05777
HLA-A02:016TDR5736LTPEVNKSYGKGAR-4.7023-5.7376

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Vaccine Design for the FusionNeoAntigens of PRPF18-CACNB2

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
PRPF18-CACNB2chr1013647744chr10184398121221KSYGKGARRAAGTCATATGGAAAAGGAGCCAGAAGG
PRPF18-CACNB2chr1013647744chr10184398121222KSYGKGARRKAAGTCATATGGAAAAGGAGCCAGAAGGAAA
PRPF18-CACNB2chr1013647744chr1018439812415EILTPEVNKSYGAGATCCTCACACCAGAAGTTAACAAGTCATAT
PRPF18-CACNB2chr1013647744chr1018439812515ILTPEVNKSYATCCTCACACCAGAAGTTAACAAGTCATAT
PRPF18-CACNB2chr1013647744chr1018439812615LTPEVNKSYCTCACACCAGAAGTTAACAAGTCATAT
PRPF18-CACNB2chr1013647744chr1018439812715TPEVNKSYACACCAGAAGTTAACAAGTCATAT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
PRPF18-CACNB2chr1013647744chr1018439812015LRKIEILTPEVNKSYTTAAGGAAAATAGAGATCCTCACACCAGAAGTTAACAAGTCATAT
PRPF18-CACNB2chr1013647744chr1018439812116RKIEILTPEVNKSYGAGGAAAATAGAGATCCTCACACCAGAAGTTAACAAGTCATATGGA

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Information of the samples that have these potential fusion neoantigens of PRPF18-CACNB2

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
BRCAPRPF18-CACNB2chr1013647744ENST00000378572chr1018439812ENST00000282343TCGA-C8-A12L-01A

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Potential target of CAR-T therapy development for PRPF18-CACNB2

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 PRPF18-CACNB2

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 PRPF18-CACNB2

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