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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RBCK1-CLCN7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RBCK1-CLCN7
FusionPDB ID: 72623
FusionGDB2.0 ID: 72623
HgeneTgene
Gene symbol

RBCK1

CLCN7

Gene ID

10616

1186

Gene nameRANBP2-type and C3HC4-type zinc finger containing 1chloride voltage-gated channel 7
SynonymsC20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4CLC-7|CLC7|HOD|OPTA2|OPTB4|PPP1R63
Cytomap

20p13

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionranBP-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 proH(+)/Cl(-) exchange transporter 7chloride channel 7 alpha subunitchloride channel protein 7chloride channel, voltage-sensitive 7protein phosphatase 1, regulatory subunit 63
Modification date2020032720200315
UniProtAcc.

P51798

Ensembl transtripts involved in fusion geneENST idsENST00000353660, ENST00000356286, 
ENST00000382181, ENST00000400245, 
ENST00000400247, ENST00000475269, 
ENST00000566812, ENST00000262318, 
ENST00000382745, ENST00000448525, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 5 X 6=2708 X 5 X 6=240
# samples 88
** MAII scorelog2(8/270*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RBCK1 [Title/Abstract] AND CLCN7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RBCK1(400375)-CLCN7(1509188), # samples:4
Anticipated loss of major functional domain due to fusion event.RBCK1-CLCN7 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.
RBCK1-CLCN7 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.
RBCK1-CLCN7 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.
RBCK1-CLCN7 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.
RBCK1-CLCN7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RBCK1-CLCN7 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
RBCK1-CLCN7 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneRBCK1

GO:0000209

protein polyubiquitination

12629548|17006537

HgeneRBCK1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

17449468

HgeneRBCK1

GO:0043123

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

19136968|21455173

HgeneRBCK1

GO:0050852

T cell receptor signaling pathway

20005846

HgeneRBCK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

HgeneRBCK1

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807


check buttonFusion gene breakpoints across RBCK1 (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 CLCN7 (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 Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4COADTCGA-5M-AAT4-01ARBCK1chr20

400375

-CLCN7chr16

1509188

-
ChimerDB4COADTCGA-5M-AAT4-01ARBCK1chr20

400375

+CLCN7chr16

1509188

-
ChimerDB4COADTCGA-AA-3979RBCK1chr20

400375

+CLCN7chr16

1509188

-


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Fusion ORF Analysis


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)
ENST00000356286RBCK1chr20400375+ENST00000448525CLCN7chr161509188-498214615763284902
ENST00000356286RBCK1chr20400375+ENST00000382745CLCN7chr161509188-498114615763284902
ENST00000356286RBCK1chr20400375+ENST00000262318CLCN7chr161509188-4573146157636441022
ENST00000353660RBCK1chr20400375+ENST00000448525CLCN7chr161509188-471911985683021817
ENST00000353660RBCK1chr20400375+ENST00000382745CLCN7chr161509188-471811985683021817
ENST00000353660RBCK1chr20400375+ENST00000262318CLCN7chr161509188-431011985683381937

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
ENST00000356286ENST00000448525RBCK1chr20400375+CLCN7chr161509188-0.0016733710.9983266
ENST00000356286ENST00000382745RBCK1chr20400375+CLCN7chr161509188-0.001679780.99832016
ENST00000356286ENST00000262318RBCK1chr20400375+CLCN7chr161509188-0.0029678080.99703217
ENST00000353660ENST00000448525RBCK1chr20400375+CLCN7chr161509188-0.0043093940.99569064
ENST00000353660ENST00000382745RBCK1chr20400375+CLCN7chr161509188-0.0043169990.99568295
ENST00000353660ENST00000262318RBCK1chr20400375+CLCN7chr161509188-0.0044810820.9955189

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>72623_72623_1_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000353660_CLCN7_chr16_1509188_ENST00000262318_length(amino acids)=937AA_BP=209
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLS
ARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPE
AYQVPASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIA
AGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGN
MWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDC
QPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLF
GISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEA
PVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRL
KDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQACVAPTGVQAVPGPGPAAPGGGGQPQSGCRVGDQEGPRQVPPGKERLG
GALAGPDVRPSPAHNGHWRWHPGPSAFPPGVTGFSAQTMLPSSGNGEHPAAGRAGGRRGTDPLAGLTLLWAVVSPLGASLRRPSLHSPRL

--------------------------------------------------------------

>72623_72623_2_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000353660_CLCN7_chr16_1509188_ENST00000382745_length(amino acids)=817AA_BP=209
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLS
ARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPE
AYQVPASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIA
AGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGN
MWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDC
QPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLF
GISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEA
PVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRL
KDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLE

--------------------------------------------------------------

>72623_72623_3_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000353660_CLCN7_chr16_1509188_ENST00000448525_length(amino acids)=817AA_BP=209
MGTATPDGREDQERLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLS
ARNTSLNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPE
AYQVPASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIA
AGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGN
MWDLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDC
QPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLF
GISLSYLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEA
PVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRL
KDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLE

--------------------------------------------------------------

>72623_72623_4_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000356286_CLCN7_chr16_1509188_ENST00000262318_length(amino acids)=1022AA_BP=294
MGRAGGHTAWLSCSWSPASPRRPGGSISQEARSPPGGWAQPRQMDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKP
EVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTS
LNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVP
ASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQ
GRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLS
SPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQG
GSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLS
YLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSH
SLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRD
AYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQACVAPTGVQAVPGPGPAAPGGGGQPQSGCRVGDQEGPRQVPPGKERLGGALAG
PDVRPSPAHNGHWRWHPGPSAFPPGVTGFSAQTMLPSSGNGEHPAAGRAGGRRGTDPLAGLTLLWAVVSPLGASLRRPSLHSPRLGFFTS

--------------------------------------------------------------

>72623_72623_5_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000356286_CLCN7_chr16_1509188_ENST00000382745_length(amino acids)=902AA_BP=294
MGRAGGHTAWLSCSWSPASPRRPGGSISQEARSPPGGWAQPRQMDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKP
EVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTS
LNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVP
ASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQ
GRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLS
SPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQG
GSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLS
YLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSH
SLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRD
AYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLA

--------------------------------------------------------------

>72623_72623_6_RBCK1-CLCN7_RBCK1_chr20_400375_ENST00000356286_CLCN7_chr16_1509188_ENST00000448525_length(amino acids)=902AA_BP=294
MGRAGGHTAWLSCSWSPASPRRPGGSISQEARSPPGGWAQPRQMDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKP
EVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTS
LNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVP
ASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQ
GRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLS
SPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQG
GSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLS
YLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSH
SLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRD
AYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLA

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Fusion Protein Functional Features


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/chr20:400375/chr16:1509188)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CLCN7

P51798

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). {ECO:0000250|UniProtKB:P35523, ECO:0000269|PubMed:18449189, ECO:0000269|PubMed:21527911, ECO:0000269|PubMed:31155284}.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+51155_119210.0469.0DomainUbiquitin-like
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+61255_119252.0511.0DomainUbiquitin-like
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612193_222252.0511.0Zinc fingerRanBP2-type
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525631_695198.0806.0DomainCBS 1
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525741_799198.0806.0DomainCBS 2
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424631_695174.0782.0DomainCBS 1
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424741_799174.0782.0DomainCBS 2
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525206_213198.0806.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525288_300198.0806.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525304_312198.0806.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525545_559198.0806.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525560_562198.0806.0IntramembraneNote%3DLoop between two helices
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525563_574198.0806.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525575_578198.0806.0IntramembraneNote%3DLoop between two helices
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424206_213174.0782.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424288_300174.0782.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424304_312174.0782.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424545_559174.0782.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424560_562174.0782.0IntramembraneNote%3DLoop between two helices
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424563_574174.0782.0IntramembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424575_578174.0782.0IntramembraneNote%3DLoop between two helices
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525203_207198.0806.0MotifSelectivity filter part_1
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525245_249198.0806.0MotifSelectivity filter part_2
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525512_516198.0806.0MotifSelectivity filter part_3
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424203_207174.0782.0MotifSelectivity filter part_1
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424245_249174.0782.0MotifSelectivity filter part_2
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424512_516174.0782.0MotifSelectivity filter part_3
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525658_660198.0806.0Nucleotide bindingATP
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525783_786198.0806.0Nucleotide bindingATP
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424658_660174.0782.0Nucleotide bindingATP
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424783_786174.0782.0Nucleotide bindingATP
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525598_805198.0806.0Topological domainCytoplasmic
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424598_805174.0782.0Topological domainCytoplasmic
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525223_241198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525247_264198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525322_341198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525375_405198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525410_432198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525487_507198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525512_535198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525579_597198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424174_197174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424223_241174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424247_264174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424322_341174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424375_405174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424410_432174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424487_507174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424512_535174.0782.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424579_597174.0782.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511233_261210.0469.0Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612233_261252.0511.0Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511278_506210.0469.0RegionTRIAD supradomain
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612278_506252.0511.0RegionTRIAD supradomain
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511193_222210.0469.0Zinc fingerRanBP2-type
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511282_332210.0469.0Zinc fingerRING-type 1
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511351_411210.0469.0Zinc fingerIBR-type
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+511447_476210.0469.0Zinc fingerRING-type 2%3B atypical
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612282_332252.0511.0Zinc fingerRING-type 1
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612351_411252.0511.0Zinc fingerIBR-type
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+612447_476252.0511.0Zinc fingerRING-type 2%3B atypical
TgeneCLCN7chr20:400375chr16:1509188ENST000003827455251_126198.0806.0Topological domainCytoplasmic
TgeneCLCN7chr20:400375chr16:1509188ENST000004485254241_126174.0782.0Topological domainCytoplasmic
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525127_159198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000382745525174_197198.0806.0TransmembraneHelical
TgeneCLCN7chr20:400375chr16:1509188ENST00000448525424127_159174.0782.0TransmembraneHelical


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1803_RBCK1_400375_CLCN7_1509188_ranked_0.pdbRBCK1400375400375ENST00000262318CLCN7chr161509188-
MGRAGGHTAWLSCSWSPASPRRPGGSISQEARSPPGGWAQPRQMDEKTKKAEEMALSLTRAVAGGDEQVAMKCAIWLAEQRVPLSVQLKP
EVSPTQDIRLWVSVEDAQMHTVTIWLTVRPDMTVASLKDMVFLDYGFPPVLQQWVIGQRLARDQETLHSHGVRQNGDSAYLYLLSARNTS
LNPQELQRERQLRMLEDLGFKDLTLQPRGPLEPGPPKPGVPQEPGRGQPDAVPEPPPVGWQCPGCTFINKPTRPGCEMCCRARPEAYQVP
ASYQPDEEERARLAGEEEALRQYQQPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQ
GRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLS
SPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLVAAVTATVAFVLIYSSRDCQPLQG
GSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLS
YLTGAAIWADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSH
SLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRD
AYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQACVAPTGVQAVPGPGPAAPGGGGQPQSGCRVGDQEGPRQVPPGKERLGGALAG
PDVRPSPAHNGHWRWHPGPSAFPPGVTGFSAQTMLPSSGNGEHPAAGRAGGRRGTDPLAGLTLLWAVVSPLGASLRRPSLHSPRLGFFTS
1022


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
RBCK1_pLDDT.png
all structure
all structure
CLCN7_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RBCK1
CLCN7


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+5111_220210.0469.0IRF3
HgeneRBCK1chr20:400375chr16:1509188ENST00000353660+5111_270210.0469.0TAB2
HgeneRBCK1chr20:400375chr16:1509188ENST00000356286+6121_270252.0511.0TAB2


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Related Drugs to RBCK1-CLCN7


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 RBCK1-CLCN7


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