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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:BBS1-DDB2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BBS1-DDB2
FusionPDB ID: 9085
FusionGDB2.0 ID: 9085
HgeneTgene
Gene symbol

BBS1

DDB2

Gene ID

582

1643

Gene nameBardet-Biedl syndrome 1damage specific DNA binding protein 2
SynonymsBBS2L2DDBB|UV-DDB2|XPE
Cytomap

11q13.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionBardet-Biedl syndrome 1 proteinBBS2-like protein 2DNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E protein
Modification date2020032020200327
UniProtAcc

Q6ZW61

Main function of 5'-partner protein: FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.

Q92466

Main function of 5'-partner protein: FUNCTION: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825). {ECO:0000269|PubMed:10882109, ECO:0000269|PubMed:11278856, ECO:0000269|PubMed:11705987, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:12944386, ECO:0000269|PubMed:14751237, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:26572825, ECO:0000269|PubMed:9892649}.; FUNCTION: [Isoform D1]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.; FUNCTION: [Isoform D2]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.
Ensembl transtripts involved in fusion geneENST idsENST00000529766, ENST00000318312, 
ENST00000455748, ENST00000393994, 
ENST00000537537, 
ENST00000256996, 
ENST00000378600, ENST00000378603, 
ENST00000378601, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=812 X 6 X 7=504
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: BBS1 [Title/Abstract] AND DDB2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BBS1 [Title/Abstract] AND DDB2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BBS1(66291353)-DDB2(47259387), # samples:1
Anticipated loss of major functional domain due to fusion event.BBS1-DDB2 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.
BBS1-DDB2 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.
BBS1-DDB2 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.
BBS1-DDB2 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
TgeneDDB2

GO:0000209

protein polyubiquitination

12732143

TgeneDDB2

GO:0009411

response to UV

12732143

TgeneDDB2

GO:0035518

histone H2A monoubiquitination

22334663

TgeneDDB2

GO:0051865

protein autoubiquitination

12732143

TgeneDDB2

GO:0070914

UV-damage excision repair

22334663



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/chr11:66291353/chr11:47259387)
- 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 BBS1 (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 DDB2 (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)
ENST00000318312BBS1chr1166291353+ENST00000378600DDB2chr1147259387+17891161511421456
ENST00000318312BBS1chr1166291353+ENST00000378603DDB2chr1147259387+17891161511421456
ENST00000318312BBS1chr1166291353+ENST00000256996DDB2chr1147259387+17891161511421456
ENST00000455748BBS1chr1166291353+ENST00000378600DDB2chr1147259387+1465837181097359
ENST00000455748BBS1chr1166291353+ENST00000378603DDB2chr1147259387+1465837181097359
ENST00000455748BBS1chr1166291353+ENST00000256996DDB2chr1147259387+1465837181097359

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
ENST00000318312ENST00000378600BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000318312ENST00000378603BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000318312ENST00000256996BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000455748ENST00000378600BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849
ENST00000455748ENST00000378603BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849
ENST00000455748ENST00000256996BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849

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 BBS1-DDB2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BBS1chr1166291353DDB2chr11472593871161370YRDKALLNVIHTPAAWHPRYNLIVVG
BBS1chr1166291353DDB2chr1147259387837273YRDKALLNVIHTPAAWHPRYNLIVVG

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Potential FusionNeoAntigen Information of BBS1-DDB2 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.
BBS1-DDB2_66291353_47259387.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)
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:01TPAAWHPRY0.99760.92191120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:08TPAAWHPRY0.99450.8451120
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:24HTPAAWHPR0.99270.70951019
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:05TPAAWHPRY0.99060.73861120
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:03HTPAAWHPR0.99020.70311019
BBS1-DDB2chr1166291353chr11472593871161HLA-A66:01HTPAAWHPR0.97560.63981019
BBS1-DDB2chr1166291353chr11472593871161HLA-A33:01HTPAAWHPR0.97270.65541019
BBS1-DDB2chr1166291353chr11472593871161HLA-A33:05HTPAAWHPR0.97270.65541019
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:08HTPAAWHPR0.96310.71691019
BBS1-DDB2chr1166291353chr11472593871161HLA-B58:01NVIHTPAAW0.96250.9568716
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:06HTPAAWHPR0.96040.70421019
BBS1-DDB2chr1166291353chr11472593871161HLA-A11:10HTPAAWHPR0.96040.52991019
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:05HTPAAWHPR0.95140.70951019
BBS1-DDB2chr1166291353chr11472593871161HLA-A31:06HTPAAWHPR0.92590.73541019
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:02TPAAWHPRY0.91760.9191120
BBS1-DDB2chr1166291353chr11472593871161HLA-B53:01NVIHTPAAW0.91360.5521716
BBS1-DDB2chr1166291353chr11472593871161HLA-A31:02HTPAAWHPR0.91260.79111019
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:02NVIHTPAAW0.88860.5701716
BBS1-DDB2chr1166291353chr11472593871161HLA-A34:01HTPAAWHPR0.86650.69561019
BBS1-DDB2chr1166291353chr11472593871161HLA-A34:05HTPAAWHPR0.86650.69561019
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:15NVIHTPAAW0.82150.6029716
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:14NVIHTPAAW0.82150.6029716
BBS1-DDB2chr1166291353chr11472593871161HLA-A34:02HTPAAWHPR0.80080.50681019
BBS1-DDB2chr1166291353chr11472593871161HLA-A66:03HTPAAWHPR0.79950.75051019
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:03HTPAAWHPR0.73080.65211019
BBS1-DDB2chr1166291353chr11472593871161HLA-A32:13NVIHTPAAW0.64530.9934716
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:03NVIHTPAAW0.54360.6088716
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:60ALLNVIHTPA0.98460.6291414
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:24ALLNVIHTPA0.98420.6288414
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:67ALLNVIHTPA0.98420.6288414
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:30ALLNVIHTPA0.98420.6288414
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:01HTPAAWHPRY0.97260.84091020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:05HTPAAWHPRY0.95360.64581020
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:29ALLNVIHTPA0.87690.6358414
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:20ALLNVIHTPA0.8520.6338414
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:02TPAAWHPRYNL0.99960.71351122
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:05TPAAWHPRYNL0.99960.68111122
BBS1-DDB2chr1166291353chr11472593871161HLA-B81:01TPAAWHPRYNL0.89880.59791122
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:29ALLNVIHTPAA0.87750.6588415
BBS1-DDB2chr1166291353chr11472593871161HLA-B82:01TPAAWHPRYNL0.77690.70141122
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:31TPAAWHPRY0.99720.90881120
BBS1-DDB2chr1166291353chr11472593871161HLA-A68:01HTPAAWHPR0.99270.70951019
BBS1-DDB2chr1166291353chr11472593871161HLA-A33:03HTPAAWHPR0.97830.65881019
BBS1-DDB2chr1166291353chr11472593871161HLA-A31:01HTPAAWHPR0.96960.77431019
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:21TPAAWHPRY0.93810.88611120
BBS1-DDB2chr1166291353chr11472593871161HLA-A26:01NVIHTPAAW0.82150.6029716
BBS1-DDB2chr1166291353chr11472593871161HLA-A02:01ALLNVIHTPA0.98420.6288414
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:12TPAAWHPRYNL0.99270.84961122
BBS1-DDB2chr1166291353chr11472593871161HLA-B42:02TPAAWHPRYNL0.98730.76261122
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:04TPAAWHPRYNL0.98710.67691122
BBS1-DDB2chr1166291353chr11472593871161HLA-B42:01TPAAWHPRYNL0.98310.76051122
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:77TPAAWHPRY0.99760.92191120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:23TPAAWHPRY0.99750.92011120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:20TPAAWHPRY0.99720.96241120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:30TPAAWHPRY0.99310.86181120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:17TPAAWHPRY0.99310.86181120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:24TPAAWHPRY0.98620.93531120
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:13NVIHTPAAW0.96040.9119716
BBS1-DDB2chr1166291353chr11472593871161HLA-A25:01NVIHTPAAW0.95150.9693716
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:09TPAAWHPRY0.92950.56281120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:11TPAAWHPRY0.91720.89441120
BBS1-DDB2chr1166291353chr11472593871161HLA-A66:02HTPAAWHPR0.83220.72751019
BBS1-DDB2chr1166291353chr11472593871161HLA-B57:02NVIHTPAAW0.78870.8714716
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:13TPAAWHPRY0.75380.83831120
BBS1-DDB2chr1166291353chr11472593871161HLA-B53:02NVIHTPAAW0.72160.7995716
BBS1-DDB2chr1166291353chr11472593871161HLA-A32:01NVIHTPAAW0.71010.9936716
BBS1-DDB2chr1166291353chr11472593871161HLA-B18:04TPAAWHPRY0.70970.94151120
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:24NVIHTPAAW0.51930.9697716
BBS1-DDB2chr1166291353chr11472593871161HLA-B18:07TPAAWHPRY0.30460.89651120
BBS1-DDB2chr1166291353chr11472593871161HLA-B18:03TPAAWHPRY0.28690.92391120
BBS1-DDB2chr1166291353chr11472593871161HLA-B18:08TPAAWHPRY0.21880.91781120
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:08TPAAWHPRY0.19590.87041120
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:11TPAAWHPRY0.1870.87091120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:43TPAAWHPRY0.16610.87411120
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:11HTPAAWHPRY0.98550.82151020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:77HTPAAWHPRY0.97260.84091020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:23HTPAAWHPRY0.97080.86791020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:30HTPAAWHPRY0.9690.7451020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:17HTPAAWHPRY0.9690.7451020
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:11HTPAAWHPRY0.95370.79321020
BBS1-DDB2chr1166291353chr11472593871161HLA-B15:08HTPAAWHPRY0.95180.78711020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:43HTPAAWHPRY0.94330.78981020
BBS1-DDB2chr1166291353chr11472593871161HLA-B35:24HTPAAWHPRY0.80550.91071020
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:22TPAAWHPRYNL0.99960.71351122
BBS1-DDB2chr1166291353chr11472593871161HLA-B55:04TPAAWHPRYNL0.97540.54481122
BBS1-DDB2chr1166291353chr11472593871161HLA-B07:26TPAAWHPRYNL0.90010.54681122
BBS1-DDB2chr1166291353chr11472593871161HLA-B82:02TPAAWHPRYNL0.77690.70141122

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Potential FusionNeoAntigen Information of BBS1-DDB2 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.
BBS1-DDB2_66291353_47259387.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)
BBS1-DDB2chr1166291353chr11472593871161DRB1-0403KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0403DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0407KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0413KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0413DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0415KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0415DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0419KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0427KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0427DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0431KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0436KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0436DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0437KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0439KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0439DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0440KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0440DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0441KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0441DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0442KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0442DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0443KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0444KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0444DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0446KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0446DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0449KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0449DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0450KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0450DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0451KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0451DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0452KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0452DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0453KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0453DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0455KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0455DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0456KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0456DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0458KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0458DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0459KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0459DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0460KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0460DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0461KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0465KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0465DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0468KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0468DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0470KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0470DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0471KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0471DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0473KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0478KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0478DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0479KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0479DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0485KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0485DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-0488KALLNVIHTPAAWHP318
BBS1-DDB2chr1166291353chr11472593871161DRB1-0488DKALLNVIHTPAAWH217
BBS1-DDB2chr1166291353chr11472593871161DRB1-1410KALLNVIHTPAAWHP318

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Fusion breakpoint peptide structures of BBS1-DDB2

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
5358LNVIHTPAAWHPRYBBS1DDB2chr1166291353chr11472593871161

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BBS1-DDB2

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-B14:023BVN5358LNVIHTPAAWHPRY-7.15543-7.26883
HLA-B14:023BVN5358LNVIHTPAAWHPRY-4.77435-5.80965
HLA-B52:013W395358LNVIHTPAAWHPRY-6.80875-6.92215
HLA-B52:013W395358LNVIHTPAAWHPRY-4.20386-5.23916
HLA-A11:014UQ25358LNVIHTPAAWHPRY-7.5194-8.5547
HLA-A11:014UQ25358LNVIHTPAAWHPRY-6.9601-7.0735
HLA-A24:025HGA5358LNVIHTPAAWHPRY-7.52403-7.63743
HLA-A24:025HGA5358LNVIHTPAAWHPRY-5.82433-6.85963
HLA-B27:056PYJ5358LNVIHTPAAWHPRY-3.28285-4.31815
HLA-B44:053DX85358LNVIHTPAAWHPRY-5.91172-6.94702
HLA-B44:053DX85358LNVIHTPAAWHPRY-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of BBS1-DDB2

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
BBS1-DDB2chr1166291353chr11472593871019HTPAAWHPRCACACCCCGGCAGCCTGGCATCCTCGC
BBS1-DDB2chr1166291353chr11472593871020HTPAAWHPRYCACACCCCGGCAGCCTGGCATCCTCGCTAC
BBS1-DDB2chr1166291353chr11472593871120TPAAWHPRYACCCCGGCAGCCTGGCATCCTCGCTAC
BBS1-DDB2chr1166291353chr11472593871122TPAAWHPRYNLACCCCGGCAGCCTGGCATCCTCGCTACAACCTC
BBS1-DDB2chr1166291353chr1147259387414ALLNVIHTPAGCCCTGCTCAATGTCATCCACACCCCGGCA
BBS1-DDB2chr1166291353chr1147259387415ALLNVIHTPAAGCCCTGCTCAATGTCATCCACACCCCGGCAGCC
BBS1-DDB2chr1166291353chr1147259387716NVIHTPAAWAATGTCATCCACACCCCGGCAGCCTGG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
BBS1-DDB2chr1166291353chr1147259387217DKALLNVIHTPAAWHGACAAGGCCCTGCTCAATGTCATCCACACCCCGGCAGCCTGGCAT
BBS1-DDB2chr1166291353chr1147259387318KALLNVIHTPAAWHPAAGGCCCTGCTCAATGTCATCCACACCCCGGCAGCCTGGCATCCT

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Information of the samples that have these potential fusion neoantigens of BBS1-DDB2

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
OVBBS1-DDB2chr1166291353ENST00000318312chr1147259387ENST00000256996TCGA-36-1570

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Potential target of CAR-T therapy development for BBS1-DDB2

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 BBS1-DDB2

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 BBS1-DDB2

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