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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:RBL1-BCAS1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RBL1-BCAS1
FusionPDB ID: 72717
FusionGDB2.0 ID: 72717
HgeneTgene
Gene symbol

RBL1

BCAS1

Gene ID

5933

8537

Gene nameRB transcriptional corepressor like 1brain enriched myelin associated protein 1
SynonymsCP107|PRB1|p107AIBC1|NABC1|PMES-2
Cytomap

20q11.23

20q13.2

Type of geneprotein-codingprotein-coding
Descriptionretinoblastoma-like protein 1107 kDa retinoblastoma-associated proteinretinoblastoma-like 1breast carcinoma-amplified sequence 1amplified and overexpressed in breast cancerbreast carcinoma amplified sequence 1novel amplified in breast cancer 1protein having mRNA enriched in synaptosomes 2
Modification date2020031320200313
UniProtAcc.

O75363

Main function of 5'-partner protein: FUNCTION: Required for myelination. {ECO:0000250|UniProtKB:Q80YN3}.
Ensembl transtripts involved in fusion geneENST idsENST00000344359, ENST00000373664, 
ENST00000598590, 
ENST00000411563, 
ENST00000371435, ENST00000371440, 
ENST00000395961, ENST00000434986, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 9 X 7=81918 X 14 X 9=2268
# samples 1519
** MAII scorelog2(15/819*10)=-2.44890095114513
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/2268*10)=-3.57734931661128
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: RBL1 [Title/Abstract] AND BCAS1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: RBL1 [Title/Abstract] AND BCAS1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RBL1(35651053)-BCAS1(52561535), # samples:3
Anticipated loss of major functional domain due to fusion event.RBL1-BCAS1 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.
RBL1-BCAS1 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.
RBL1-BCAS1 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.
RBL1-BCAS1 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.
RBL1-BCAS1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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
HgeneRBL1

GO:0043550

regulation of lipid kinase activity

16286473



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/chr20:35651053/chr20:52561535)
- 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 RBL1 (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 BCAS1 (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)
ENST00000373664RBL1chr2035651053-ENST00000371440BCAS1chr2052561535-27642626672763899
ENST00000373664RBL1chr2035651053-ENST00000395961BCAS1chr2052561535-40822626672700877
ENST00000373664RBL1chr2035651053-ENST00000434986BCAS1chr2052561535-30002626672700877
ENST00000344359RBL1chr2035651053-ENST00000371440BCAS1chr2052561535-27582620612757899
ENST00000344359RBL1chr2035651053-ENST00000395961BCAS1chr2052561535-40762620612694877
ENST00000344359RBL1chr2035651053-ENST00000434986BCAS1chr2052561535-29942620612694877

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
ENST00000373664ENST00000371440RBL1chr2035651053-BCAS1chr2052561535-0.0003103820.9996897
ENST00000373664ENST00000395961RBL1chr2035651053-BCAS1chr2052561535-0.0002958040.9997042
ENST00000373664ENST00000434986RBL1chr2035651053-BCAS1chr2052561535-0.0003302630.9996698
ENST00000344359ENST00000371440RBL1chr2035651053-BCAS1chr2052561535-0.0003107830.9996892
ENST00000344359ENST00000395961RBL1chr2035651053-BCAS1chr2052561535-0.000296380.9997036
ENST00000344359ENST00000434986RBL1chr2035651053-BCAS1chr2052561535-0.0003318640.9996681

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 RBL1-BCAS1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
RBL1chr2035651053BCAS1chr20525615352620853DQLLLCAFYIMAKGPKRMLDAQVQTD
RBL1chr2035651053BCAS1chr20525615352626853DQLLLCAFYIMAKGPKRMLDAQVQTD

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Potential FusionNeoAntigen Information of RBL1-BCAS1 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.
RBL1-BCAS1_35651053_52561535.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)
RBL1-BCAS1chr2035651053chr20525615352620HLA-A74:09YIMAKGPKR0.94580.6393817
RBL1-BCAS1chr2035651053chr20525615352620HLA-A74:11YIMAKGPKR0.94580.6393817
RBL1-BCAS1chr2035651053chr20525615352620HLA-A74:03YIMAKGPKR0.94580.6393817
RBL1-BCAS1chr2035651053chr20525615352620HLA-A31:02YIMAKGPKR0.89650.6085817
RBL1-BCAS1chr2035651053chr20525615352620HLA-A31:02AFYIMAKGPKR0.98020.7615617
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:12MAKGPKRM0.9950.94951018
RBL1-BCAS1chr2035651053chr20525615352620HLA-B42:02MAKGPKRML0.99030.50611019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:08MAKGPKRML0.98630.81031019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:19MAKGPKRML0.98530.97821019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:07MAKGPKRML0.97990.95381019
RBL1-BCAS1chr2035651053chr20525615352620HLA-A31:01YIMAKGPKR0.95490.5941817
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:12MAKGPKRML0.94190.9371019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C15:06MAKGPKRML0.91780.90841019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C06:03MAKGPKRML0.87140.99061019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:04MAKGPKRML0.85570.98911019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:14MAKGPKRML0.38510.97251019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:03MAKGPKRM0.99030.98261018
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:03MAKGPKRML0.98820.9821019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:04MAKGPKRML0.98820.9821019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:05MAKGPKRML0.98430.86561019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:67MAKGPKRML0.98390.96841019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C03:17MAKGPKRML0.9810.94861019
RBL1-BCAS1chr2035651053chr20525615352620HLA-B07:13MAKGPKRML0.97430.80271019
RBL1-BCAS1chr2035651053chr20525615352620HLA-A74:01YIMAKGPKR0.94580.6393817
RBL1-BCAS1chr2035651053chr20525615352620HLA-C06:17MAKGPKRML0.94050.98841019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C06:02MAKGPKRML0.94050.98841019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C16:04MAKGPKRML0.9170.98011019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:03MAKGPKRML0.88990.97841019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C12:02MAKGPKRML0.81440.96761019
RBL1-BCAS1chr2035651053chr20525615352620HLA-B08:12MAKGPKRML0.70320.65011019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C02:02MAKGPKRML0.66610.97031019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C02:10MAKGPKRML0.66610.97031019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C07:22MAKGPKRML0.64130.76171019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C07:04MAKGPKRML0.62720.92831019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C16:01MAKGPKRML0.62360.98011019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C06:08MAKGPKRML0.60190.98021019
RBL1-BCAS1chr2035651053chr20525615352620HLA-C16:02MAKGPKRML0.34370.99121019
RBL1-BCAS1chr2035651053chr20525615352620HLA-B15:30IMAKGPKRM0.30060.9265918

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Potential FusionNeoAntigen Information of RBL1-BCAS1 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.
RBL1-BCAS1_35651053_52561535.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)
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0101CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0101AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0101LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0101LLCAFYIMAKGPKRM318
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0102CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0102AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0103AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0103CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0104AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0104CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0104LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0104LLCAFYIMAKGPKRM318
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0105CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0105AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0105LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0105LLCAFYIMAKGPKRM318
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0108NCAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0108NAFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0111AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0111CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0111LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0112AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0112CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0113CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0113AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0113LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0113LLCAFYIMAKGPKRM318
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0114CAFYIMAKGPKRMLD520
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0114AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0114LCAFYIMAKGPKRML419
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0114LLCAFYIMAKGPKRM318
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0203AFYIMAKGPKRMLDA621
RBL1-BCAS1chr2035651053chr20525615352620DRB5-0203CAFYIMAKGPKRMLD520

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Fusion breakpoint peptide structures of RBL1-BCAS1

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
209AFYIMAKGPKRMLDRBL1BCAS1chr2035651053chr20525615352620

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of RBL1-BCAS1

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-B14:023BVN209AFYIMAKGPKRMLD-7.15543-7.26883
HLA-B14:023BVN209AFYIMAKGPKRMLD-4.77435-5.80965
HLA-B52:013W39209AFYIMAKGPKRMLD-6.80875-6.92215
HLA-B52:013W39209AFYIMAKGPKRMLD-4.20386-5.23916
HLA-A11:014UQ2209AFYIMAKGPKRMLD-7.5194-8.5547
HLA-A11:014UQ2209AFYIMAKGPKRMLD-6.9601-7.0735
HLA-A24:025HGA209AFYIMAKGPKRMLD-7.52403-7.63743
HLA-A24:025HGA209AFYIMAKGPKRMLD-5.82433-6.85963
HLA-B27:056PYJ209AFYIMAKGPKRMLD-3.28285-4.31815
HLA-B44:053DX8209AFYIMAKGPKRMLD-5.91172-6.94702
HLA-B44:053DX8209AFYIMAKGPKRMLD-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of RBL1-BCAS1

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
RBL1-BCAS1chr2035651053chr20525615351018MAKGPKRMATGGCAAAGGGACCAAAGCGGATG
RBL1-BCAS1chr2035651053chr20525615351019MAKGPKRMLATGGCAAAGGGACCAAAGCGGATGTTG
RBL1-BCAS1chr2035651053chr2052561535617AFYIMAKGPKRGCCTTTTATATCATGGCAAAGGGACCAAAGCGG
RBL1-BCAS1chr2035651053chr2052561535817YIMAKGPKRTATATCATGGCAAAGGGACCAAAGCGG
RBL1-BCAS1chr2035651053chr2052561535918IMAKGPKRMATCATGGCAAAGGGACCAAAGCGGATG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
RBL1-BCAS1chr2035651053chr2052561535318LLCAFYIMAKGPKRMCTCCTTTGTGCCTTTTATATCATGGCAAAGGGACCAAAGCGGATG
RBL1-BCAS1chr2035651053chr2052561535419LCAFYIMAKGPKRMLCTTTGTGCCTTTTATATCATGGCAAAGGGACCAAAGCGGATGTTG
RBL1-BCAS1chr2035651053chr2052561535520CAFYIMAKGPKRMLDTGTGCCTTTTATATCATGGCAAAGGGACCAAAGCGGATGTTGGAT
RBL1-BCAS1chr2035651053chr2052561535621AFYIMAKGPKRMLDAGCCTTTTATATCATGGCAAAGGGACCAAAGCGGATGTTGGATGCT

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Information of the samples that have these potential fusion neoantigens of RBL1-BCAS1

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
UCECRBL1-BCAS1chr2035651053ENST00000344359chr2052561535ENST00000371440TCGA-EY-A547-01A

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Potential target of CAR-T therapy development for RBL1-BCAS1

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 RBL1-BCAS1

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 RBL1-BCAS1

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