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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:RCBTB2-RB1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RCBTB2-RB1
FusionPDB ID: 73139
FusionGDB2.0 ID: 73139
HgeneTgene
Gene symbol

RCBTB2

RB1

Gene ID

1102

5925

Gene nameRCC1 and BTB domain containing protein 2RB transcriptional corepressor 1
SynonymsCHC1L|RLGOSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110
Cytomap

13q14.2

13q14.2

Type of geneprotein-codingprotein-coding
DescriptionRCC1 and BTB domain-containing protein 2RCC1-like G exchanging factor RLGregulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2retinoblastoma-associated proteinGOS563 exon 17 substitution mutation causes premature stopexon 17 tumor GOS561 substitution mutation causes premature stopprepro-retinoblastoma-associated proteinprotein phosphatase 1, regulatory subunit 130retinoblas
Modification date2020031320200329
UniProtAcc.

RB1CC1

Main function of 5'-partner protein: 1594
Ensembl transtripts involved in fusion geneENST idsENST00000344532, ENST00000430805, 
ENST00000544492, ENST00000481144, 
ENST00000544904, 
ENST00000484879, 
ENST00000267163, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 6 X 5=15013 X 16 X 11=2288
# samples 527
** MAII scorelog2(5/150*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/2288*10)=-3.08305573972756
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: RCBTB2 [Title/Abstract] AND RB1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: RCBTB2 [Title/Abstract] AND RB1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RCBTB2(49070255)-RB1(48939061), # samples:1
RCBTB2(49070327)-RB1(48939030), # samples:1
Anticipated loss of major functional domain due to fusion event.RCBTB2-RB1 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.
RCBTB2-RB1 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.
RCBTB2-RB1 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.
RCBTB2-RB1 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.
RCBTB2-RB1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RCBTB2-RB1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
RCBTB2-RB1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
RCBTB2-RB1 seems lost the major protein functional domain in Tgene 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
TgeneRB1

GO:0043550

regulation of lipid kinase activity

16286473

TgeneRB1

GO:0045892

negative regulation of transcription, DNA-templated

10783144|12065415|19223331

TgeneRB1

GO:2000679

positive regulation of transcription regulatory region DNA binding

25100735



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/chr13:49070255/chr13:48939061)
- 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 RCBTB2 (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 RB1 (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)
ENST00000544492RCBTB2chr1349070327-ENST00000267163RB1chr1348939030+500511644713089872

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
ENST00000544492ENST00000267163RCBTB2chr1349070327-RB1chr1348939030+0.0003647380.9996352

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 RCBTB2-RB1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
RCBTB2chr1349070327RB1chr13489390301164230AIALLSAAVKYDAQVKNVYFKNFIPF

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Potential FusionNeoAntigen Information of RCBTB2-RB1 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.
RCBTB2-RB1_49070327_48939030.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)
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:03AQVKNVYF0.93660.74181220
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:01YDAQVKNVY0.73080.83961019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:03VKYDAQVKNVY0.99390.656819
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:10KYDAQVKNV0.99840.7588918
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:07KYDAQVKNV0.99840.7591918
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:31YDAQVKNVY0.93080.76581019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B51:07DAQVKNVYF0.87980.53181120
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:14KYDAQVKNV0.7160.7594918
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:07KYDAQVKNVYF10.5389920
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:10KYDAQVKNVYF10.5255920
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:14KYDAQVKNVYF0.99760.5523920
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:50AQVKNVYF0.99910.86471220
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:53AQVKNVYF0.99680.77821220
RCBTB2-RB1chr1349070327chr13489390301164HLA-B35:24DAQVKNVY0.99490.86551119
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:54AQVKNVYF0.99380.76761220
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:68AQVKNVYF0.99170.50231220
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:04DAQVKNVY0.98730.85331119
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:07DAQVKNVY0.96350.79131119
RCBTB2-RB1chr1349070327chr13489390301164HLA-B48:02AQVKNVYF0.87660.9171220
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:01KYDAQVKNV0.99840.7591918
RCBTB2-RB1chr1349070327chr13489390301164HLA-C18:01KYDAQVKNV0.99780.7923918
RCBTB2-RB1chr1349070327chr13489390301164HLA-A30:01AQVKNVYFK0.99210.84541221
RCBTB2-RB1chr1349070327chr13489390301164HLA-A30:01AVKYDAQVK0.98720.7547716
RCBTB2-RB1chr1349070327chr13489390301164HLA-B35:24DAQVKNVYF0.97320.78421120
RCBTB2-RB1chr1349070327chr13489390301164HLA-B35:20YDAQVKNVY0.92940.84111019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:04YDAQVKNVY0.87430.85691019
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:04KYDAQVKNV0.85090.8834918
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:11YDAQVKNVY0.8130.7861019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:08YDAQVKNVY0.78150.67941019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:07YDAQVKNVY0.76080.78931019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:06YDAQVKNVY0.74940.83131019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:03YDAQVKNVY0.73380.82271019
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:05YDAQVKNVY0.73080.83961019
RCBTB2-RB1chr1349070327chr13489390301164HLA-C06:06KYDAQVKNV0.72980.9711918
RCBTB2-RB1chr1349070327chr13489390301164HLA-B18:07DAQVKNVYF0.7240.7161120
RCBTB2-RB1chr1349070327chr13489390301164HLA-C07:04KYDAQVKNV0.53060.9223918
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:53YDAQVKNVY0.52380.78861019
RCBTB2-RB1chr1349070327chr13489390301164HLA-C14:02KYDAQVKNVY0.99190.8745919
RCBTB2-RB1chr1349070327chr13489390301164HLA-C14:03KYDAQVKNVY0.99190.8745919
RCBTB2-RB1chr1349070327chr13489390301164HLA-C04:01KYDAQVKNVYF10.5389920
RCBTB2-RB1chr1349070327chr13489390301164HLA-C18:01KYDAQVKNVYF10.5554920
RCBTB2-RB1chr1349070327chr13489390301164HLA-B48:02VKYDAQVKNVY0.9960.7207819
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:53VKYDAQVKNVY0.99530.7124819
RCBTB2-RB1chr1349070327chr13489390301164HLA-B15:54VKYDAQVKNVY0.99450.6949819

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Potential FusionNeoAntigen Information of RCBTB2-RB1 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.
RCBTB2-RB1_49070327_48939030.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)
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1173AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1179AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1182AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1331AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1341AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1385AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1386AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1386AAVKYDAQVKNVYFK621
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1402AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1413AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1419AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1430AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1441AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1449AVKYDAQVKNVYFKN722
RCBTB2-RB1chr1349070327chr13489390301164DRB1-1494AVKYDAQVKNVYFKN722

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Fusion breakpoint peptide structures of RCBTB2-RB1

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
79AAVKYDAQVKNVYFRCBTB2RB1chr1349070327chr13489390301164

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of RCBTB2-RB1

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-B14:023BVN79AAVKYDAQVKNVYF-7.15543-7.26883
HLA-B14:023BVN79AAVKYDAQVKNVYF-4.77435-5.80965
HLA-B52:013W3979AAVKYDAQVKNVYF-6.80875-6.92215
HLA-B52:013W3979AAVKYDAQVKNVYF-4.20386-5.23916
HLA-A11:014UQ279AAVKYDAQVKNVYF-7.5194-8.5547
HLA-A11:014UQ279AAVKYDAQVKNVYF-6.9601-7.0735
HLA-A24:025HGA79AAVKYDAQVKNVYF-7.52403-7.63743
HLA-A24:025HGA79AAVKYDAQVKNVYF-5.82433-6.85963
HLA-B27:056PYJ79AAVKYDAQVKNVYF-3.28285-4.31815
HLA-B44:053DX879AAVKYDAQVKNVYF-5.91172-6.94702
HLA-B44:053DX879AAVKYDAQVKNVYF-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of RCBTB2-RB1

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
RCBTB2-RB1chr1349070327chr13489390301019YDAQVKNVYGATGCACAGGTGAAAAATGTTTATTTC
RCBTB2-RB1chr1349070327chr13489390301119DAQVKNVYGCACAGGTGAAAAATGTTTATTTC
RCBTB2-RB1chr1349070327chr13489390301120DAQVKNVYFGCACAGGTGAAAAATGTTTATTTCAAA
RCBTB2-RB1chr1349070327chr13489390301220AQVKNVYFCAGGTGAAAAATGTTTATTTCAAA
RCBTB2-RB1chr1349070327chr13489390301221AQVKNVYFKCAGGTGAAAAATGTTTATTTCAAAAAT
RCBTB2-RB1chr1349070327chr1348939030716AVKYDAQVKGTGAAGTATGATGCACAGGTGAAAAAT
RCBTB2-RB1chr1349070327chr1348939030819VKYDAQVKNVYAAGTATGATGCACAGGTGAAAAATGTTTATTTC
RCBTB2-RB1chr1349070327chr1348939030918KYDAQVKNVTATGATGCACAGGTGAAAAATGTTTAT
RCBTB2-RB1chr1349070327chr1348939030919KYDAQVKNVYTATGATGCACAGGTGAAAAATGTTTATTTC
RCBTB2-RB1chr1349070327chr1348939030920KYDAQVKNVYFTATGATGCACAGGTGAAAAATGTTTATTTCAAA

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
RCBTB2-RB1chr1349070327chr1348939030621AAVKYDAQVKNVYFKGCGGTGAAGTATGATGCACAGGTGAAAAATGTTTATTTCAAAAAT
RCBTB2-RB1chr1349070327chr1348939030722AVKYDAQVKNVYFKNGTGAAGTATGATGCACAGGTGAAAAATGTTTATTTCAAAAATTTT

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Information of the samples that have these potential fusion neoantigens of RCBTB2-RB1

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
BRCARCBTB2-RB1chr1349070327ENST00000544492chr1348939030ENST00000267163TCGA-D8-A1XJ-01A

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Potential target of CAR-T therapy development for RCBTB2-RB1

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 RCBTB2-RB1

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 RCBTB2-RB1

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