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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:RNF213-RBCK1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RNF213-RBCK1
FusionPDB ID: 74985
FusionGDB2.0 ID: 74985
HgeneTgene
Gene symbol

RNF213

RBCK1

Gene ID

57674

10616

Gene namering finger protein 213RANBP2-type and C3HC4-type zinc finger containing 1
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57C20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4
Cytomap

17q25.3

20p13

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterinranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated pro
Modification date2020031320200327
UniProtAcc

Q63HN8

Main function of 5'-partner protein: FUNCTION: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444, ECO:0000269|PubMed:30705059, ECO:0000269|PubMed:30846318, ECO:0000269|PubMed:32139119, ECO:0000269|PubMed:33842849, ECO:0000269|PubMed:34012115}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000319921, ENST00000456466, 
ENST00000508628, ENST00000582970, 
ENST00000336301, ENST00000427003, 
ENST00000400245, ENST00000400247, 
ENST00000475269, ENST00000353660, 
ENST00000356286, ENST00000382181, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score34 X 32 X 16=174086 X 5 X 2=60
# samples 418
** MAII scorelog2(41/17408*10)=-5.40798274174489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/60*10)=0.415037499278844
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: RNF213 [Title/Abstract] AND RBCK1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: RNF213 [Title/Abstract] AND RBCK1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RNF213(78282971)-RBCK1(407956), # samples:1
RNF213(78282971)-RBCK1(407957), # samples:1
Anticipated loss of major functional domain due to fusion event.RNF213-RBCK1 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.
RNF213-RBCK1 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.
RNF213-RBCK1 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.
RNF213-RBCK1 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
HgeneRNF213

GO:0016567

protein ubiquitination

21799892

HgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

HgeneRNF213

GO:0051865

protein autoubiquitination

21799892

TgeneRBCK1

GO:0000209

protein polyubiquitination

12629548|17006537

TgeneRBCK1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

17449468

TgeneRBCK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19136968|21455173

TgeneRBCK1

GO:0050852

T cell receptor signaling pathway

20005846

TgeneRBCK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

TgeneRBCK1

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807



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/chr17:78282971/chr20:407956)
- 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 RNF213 (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 RBCK1 (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)
ENST00000508628RNF213chr1778282971+ENST00000356286RBCK1chr20407956+3987294714534501101
ENST00000508628RNF213chr1778282971+ENST00000353660RBCK1chr20407956+3987294714534501101
ENST00000508628RNF213chr1778282971+ENST00000382181RBCK1chr20407956+3987294714534501101
ENST00000456466RNF213chr1778282971+ENST00000356286RBCK1chr20407956+3838279814333011052
ENST00000456466RNF213chr1778282971+ENST00000353660RBCK1chr20407956+3838279814333011052
ENST00000456466RNF213chr1778282971+ENST00000382181RBCK1chr20407956+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000356286RBCK1chr20407956+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000353660RBCK1chr20407956+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000382181RBCK1chr20407956+3838279814333011052
ENST00000319921RNF213chr1778282971+ENST00000356286RBCK1chr20407956+3836279614132991052
ENST00000319921RNF213chr1778282971+ENST00000353660RBCK1chr20407956+3836279614132991052
ENST00000319921RNF213chr1778282971+ENST00000382181RBCK1chr20407956+3836279614132991052
ENST00000508628RNF213chr1778282971+ENST00000356286RBCK1chr20407957+3987294714534501101
ENST00000508628RNF213chr1778282971+ENST00000353660RBCK1chr20407957+3987294714534501101
ENST00000508628RNF213chr1778282971+ENST00000382181RBCK1chr20407957+3987294714534501101
ENST00000456466RNF213chr1778282971+ENST00000356286RBCK1chr20407957+3838279814333011052
ENST00000456466RNF213chr1778282971+ENST00000353660RBCK1chr20407957+3838279814333011052
ENST00000456466RNF213chr1778282971+ENST00000382181RBCK1chr20407957+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000356286RBCK1chr20407957+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000353660RBCK1chr20407957+3838279814333011052
ENST00000582970RNF213chr1778282971+ENST00000382181RBCK1chr20407957+3838279814333011052
ENST00000319921RNF213chr1778282971+ENST00000356286RBCK1chr20407957+3836279614132991052
ENST00000319921RNF213chr1778282971+ENST00000353660RBCK1chr20407957+3836279614132991052
ENST00000319921RNF213chr1778282971+ENST00000382181RBCK1chr20407957+3836279614132991052

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
ENST00000508628ENST00000356286RNF213chr1778282971+RBCK1chr20407956+0.0049546840.9950453
ENST00000508628ENST00000353660RNF213chr1778282971+RBCK1chr20407956+0.0049546840.9950453
ENST00000508628ENST00000382181RNF213chr1778282971+RBCK1chr20407956+0.0049546840.9950453
ENST00000456466ENST00000356286RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000456466ENST00000353660RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000456466ENST00000382181RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000582970ENST00000356286RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000582970ENST00000353660RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000582970ENST00000382181RNF213chr1778282971+RBCK1chr20407956+0.0042408030.9957592
ENST00000319921ENST00000356286RNF213chr1778282971+RBCK1chr20407956+0.004246230.99575377
ENST00000319921ENST00000353660RNF213chr1778282971+RBCK1chr20407956+0.004246230.99575377
ENST00000319921ENST00000382181RNF213chr1778282971+RBCK1chr20407956+0.004246230.99575377
ENST00000508628ENST00000356286RNF213chr1778282971+RBCK1chr20407957+0.0049546840.9950453
ENST00000508628ENST00000353660RNF213chr1778282971+RBCK1chr20407957+0.0049546840.9950453
ENST00000508628ENST00000382181RNF213chr1778282971+RBCK1chr20407957+0.0049546840.9950453
ENST00000456466ENST00000356286RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000456466ENST00000353660RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000456466ENST00000382181RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000582970ENST00000356286RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000582970ENST00000353660RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000582970ENST00000382181RNF213chr1778282971+RBCK1chr20407957+0.0042408030.9957592
ENST00000319921ENST00000356286RNF213chr1778282971+RBCK1chr20407957+0.004246230.99575377
ENST00000319921ENST00000353660RNF213chr1778282971+RBCK1chr20407957+0.004246230.99575377
ENST00000319921ENST00000382181RNF213chr1778282971+RBCK1chr20407957+0.004246230.99575377

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 RNF213-RBCK1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
RNF213chr1778282971RBCK1chr204079562796885EIVCRMIRLLSLVLLTPEDYQRFLDL
RNF213chr1778282971RBCK1chr204079562798885EIVCRMIRLLSLVLLTPEDYQRFLDL
RNF213chr1778282971RBCK1chr204079562947934EIVCRMIRLLSLVLLTPEDYQRFLDL
RNF213chr1778282971RBCK1chr204079572796885EIVCRMIRLLSLVLLTPEDYQRFLDL
RNF213chr1778282971RBCK1chr204079572798885EIVCRMIRLLSLVLLTPEDYQRFLDL
RNF213chr1778282971RBCK1chr204079572947934EIVCRMIRLLSLVLLTPEDYQRFLDL

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Potential FusionNeoAntigen Information of RNF213-RBCK1 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.
RNF213-RBCK1_78282971_407956.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)
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:05IRLLSLVLL0.99980.8967615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:02IRLLSLVLL0.99980.5876615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:04IRLLSLVLL0.99980.7321615
RNF213-RBCK1chr1778282971chr204079562796HLA-B14:01IRLLSLVLL0.99270.5654615
RNF213-RBCK1chr1778282971chr204079562796HLA-B14:02IRLLSLVLL0.99270.5654615
RNF213-RBCK1chr1778282971chr204079562796HLA-B08:01MIRLLSLVL0.98010.8822514
RNF213-RBCK1chr1778282971chr204079562796HLA-B08:09MIRLLSLVL0.96710.7736514
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:02RMIRLLSLVLL0.9920.6113415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:05RMIRLLSLVLL0.99130.8696415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:04RMIRLLSLVLL0.98910.753415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:14IRLLSLVLL0.99980.8003615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:05IRLLSLVLL0.99840.9621615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:95IRLLSLVLL0.99760.6675615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:27IRLLSLVLL0.99740.931615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:29IRLLSLVLL0.99660.9234615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:13IRLLSLVLL0.9920.8682615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:03IRLLSLVLL0.99110.9145615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:19IRLLSLVLL0.9720.6497615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:80IRLLSLVLL0.97060.9067615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:67IRLLSLVLL0.97060.9067615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:10IRLLSLVLL0.97050.9464615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:46IRLLSLVLL0.96620.7903615
RNF213-RBCK1chr1778282971chr204079562796HLA-B39:12IRLLSLVLL0.96560.9134615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:03RMIRLLSLVLL0.66850.8875415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:10IRLLSLVLL0.99980.8702615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:06IRLLSLVLL0.99980.7243615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:08IRLLSLVLL0.99980.8031615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:09IRLLSLVLL0.99940.8762615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:01IRLLSLVLL0.9980.6018615
RNF213-RBCK1chr1778282971chr204079562796HLA-B08:18MIRLLSLVL0.98010.8822514
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:02IRLLSLVLL0.97060.9067615
RNF213-RBCK1chr1778282971chr204079562796HLA-C07:22IRLLSLVLL0.91520.7468615
RNF213-RBCK1chr1778282971chr204079562796HLA-C06:08IRLLSLVLL0.91030.9836615
RNF213-RBCK1chr1778282971chr204079562796HLA-B08:12MIRLLSLVL0.78610.9538514
RNF213-RBCK1chr1778282971chr204079562796HLA-C06:17IRLLSLVLL0.32220.9926615
RNF213-RBCK1chr1778282971chr204079562796HLA-C06:02IRLLSLVLL0.32220.9926615
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:08RMIRLLSLVLL0.98950.7632415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:06RMIRLLSLVLL0.97310.7705415
RNF213-RBCK1chr1778282971chr204079562796HLA-B27:09RMIRLLSLVLL0.93730.856415

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Potential FusionNeoAntigen Information of RNF213-RBCK1 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.

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)

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Fusion breakpoint peptide structures of RNF213-RBCK1

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
3947IRLLSLVLLTPEDYRNF213RBCK1chr1778282971chr204079562796

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of RNF213-RBCK1

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-B14:023BVN3947IRLLSLVLLTPEDY-7.14368-7.25548
HLA-B14:023BVN3947IRLLSLVLLTPEDY-6.90724-7.95034
HLA-B52:013W393947IRLLSLVLLTPEDY-7.67666-8.71976
HLA-B52:013W393947IRLLSLVLLTPEDY-5.5221-5.6339
HLA-A11:014UQ23947IRLLSLVLLTPEDY-8.37369-9.41679
HLA-A11:014UQ23947IRLLSLVLLTPEDY-6.26273-6.37453
HLA-A24:025HGA3947IRLLSLVLLTPEDY-7.6158-8.6589
HLA-A24:025HGA3947IRLLSLVLLTPEDY-5.36701-5.47881
HLA-B44:053DX83947IRLLSLVLLTPEDY-8.09865-8.21045
HLA-B44:053DX83947IRLLSLVLLTPEDY-5.97829-7.02139

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Vaccine Design for the FusionNeoAntigens of RNF213-RBCK1

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
RNF213-RBCK1chr1778282971chr20407956415RMIRLLSLVLLAGAATGATTAGACTTCTATCTCTGGTGCTCCTG
RNF213-RBCK1chr1778282971chr20407956514MIRLLSLVLATGATTAGACTTCTATCTCTGGTGCTC
RNF213-RBCK1chr1778282971chr20407956615IRLLSLVLLATTAGACTTCTATCTCTGGTGCTCCTG

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

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Information of the samples that have these potential fusion neoantigens of RNF213-RBCK1

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
STADRNF213-RBCK1chr1778282971ENST00000319921chr20407956ENST00000353660TCGA-BR-A4PE

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Potential target of CAR-T therapy development for RNF213-RBCK1

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 RNF213-RBCK1

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 RNF213-RBCK1

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
HgeneRNF213C1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
HgeneRNF213C0026654Moyamoya Disease3ORPHANET
HgeneRNF213C2931384Moyamoya disease 13ORPHANET