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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PKD1-RNF126

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PKD1-RNF126
FusionPDB ID: 65681
FusionGDB2.0 ID: 65681
HgeneTgene
Gene symbol

PKD1

RNF126

Gene ID

5310

55658

Gene namepolycystin 1, transient receptor potential channel interactingring finger protein 126
SynonymsPBP|PC1|Pc-1|TRPP1-
Cytomap

16p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpolycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1E3 ubiquitin-protein ligase RNF126
Modification date2020031520200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000262304, ENST00000423118, 
ENST00000561991, 		ENST00000292363, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 13 X 9=16388 X 3 X 6=144
# samples 149
** MAII scorelog2(14/1638*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PKD1 [Title/Abstract] AND RNF126 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PKD1(2147148)-RNF126(650296), # samples:1
Anticipated loss of major functional domain due to fusion event.PKD1-RNF126 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.
PKD1-RNF126 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.
PKD1-RNF126 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.
PKD1-RNF126 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
HgenePKD1

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

16311606

HgenePKD1

GO:0045944

positive regulation of transcription by RNA polymerase II

16311606

HgenePKD1

GO:0048754

branching morphogenesis of an epithelial tube

12482949

HgenePKD1

GO:0051290

protein heterotetramerization

30093605

HgenePKD1

GO:0061136

regulation of proteasomal protein catabolic process

23001567

HgenePKD1

GO:0198738

cell-cell signaling by wnt

27214281

HgenePKD1

GO:2000045

regulation of G1/S transition of mitotic cell cycle

16311606

TgeneRNF126

GO:0006511

ubiquitin-dependent protein catabolic process

24981174

TgeneRNF126

GO:0006513

protein monoubiquitination

23277564

TgeneRNF126

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

24981174


check buttonFusion gene breakpoints across PKD1 (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 RNF126 (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
ChimerDB4ESCATCGA-L5-A8NGPKD1chr16

2147148

-RNF126chr19

650296

-


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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)
ENST00000423118PKD1chr162147148-ENST00000292363RNF126chr19650296-1180010705209111973662
ENST00000262304PKD1chr162147148-ENST00000292363RNF126chr19650296-1180310708209112003663

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
ENST00000423118ENST00000292363PKD1chr162147148-RNF126chr19650296-0.0017947810.9982052
ENST00000262304ENST00000292363PKD1chr162147148-RNF126chr19650296-0.002436550.9975635

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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

>65681_65681_1_PKD1-RNF126_PKD1_chr16_2147148_ENST00000262304_RNF126_chr19_650296_ENST00000292363_length(amino acids)=3663AA_BP=3496
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANL
SALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEY
VACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFP
ASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALE
LVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSP
AVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQD
AENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSP
DNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHD
AGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHN
LSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP
WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAA
VFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDP
SVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVL
TQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATV
EHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFT
RSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGS
YLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGW
NEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSA
QDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADC
TMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV
PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGL
VLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCC
EPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGP
CFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVL
MRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVT
VAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSL
TVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMR
LVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQG
HCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIE
YSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDP
RSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNS
DWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQG
ADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPS
HVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG
HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDA
ALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSS
VVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSW
PDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLIIQQLVNGII
TPATIPSLGPWGVLHSNPMDYAWGANGLDAIITQLLNQFENTGPPPADKEKIQALPTVPVTEEHVGSGLECPVCKDDYALGERVRQLPCN

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>65681_65681_2_PKD1-RNF126_PKD1_chr16_2147148_ENST00000423118_RNF126_chr19_650296_ENST00000292363_length(amino acids)=3662AA_BP=3495
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANL
SALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEY
VACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSASFACLSLCSGPPPPPAPTCRGPTLLQHVFP
ASPGATLVGPHGPLASGQLAAFHIAAPLPVTATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALE
LVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCYRLVVEKAAWLQAQEQCQAWAGAALAMVDSP
AVQRFLVSRVTRSLDVWIGFSTVQGVEVGPAPQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQD
AENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELRRPAQLRLQVYRLLSTAGTPENGSEPESRSP
DNRTQLAPACMPGGRWCPGANICLPLDASCHPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHD
AGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTVLLGLRPNPGLRLPGRYEVRAEVGNGVSRHN
LSCSFDVVSPVAGLRVIYPAPRDGRLYVPTNGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP
WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAGSDMVFRWTINDKQSLTFQNVVFNVIYQSAA
VFKLSLTASNHVSNVTVNYNVTVERMNRMQGLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDP
SVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVAGRPVTFYPHPLPSPGGVLYTWDFGDGSPVL
TQSQPAANHTYASRGTYHVRLEVNNTVSGAAAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATV
EHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGNPAHYLFDWTFGDGSSNTTVRGCPTVTHNFT
RSGTFPLALVLSSRVNRAHYFTSICVEPEVGNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGS
YLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLWDLGDGGWLEGPEVTHAYNSTGDFTVRVAGW
NEVSRSEAWLNVTVKRRVRGLVVNASRTVVPLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSA
QDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSGKGFSLTVLEAGTYHVQLRATNMLGSAWADC
TMDFVEPVGWLMVAASPNPAAVNTSVTLSAELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV
PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAGTFSIRLNASNAVSWVSATYNLTAEEPIVGL
VLWASSKVVAPGQLVHFQILLAAGSAVTFRLQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCC
EPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQVRAFNALGSENRTLVLEVQDAVQYVALQSGP
CFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVL
MRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPRLALPVGHYCFVFVVSFGDTPLTQSIQANVT
VAPERLVPIIEGGSYRVWSDTRDLVLDGSESYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSL
TVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGSKRGRWAARTFSNKTLVLDETTTSTGSAGMR
LVLRRGVLRDGEGYTFTLTVLGRSGEEEGCASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQG
HCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGSATGLTVWLHGLTASVLPGLLRQADPQHVIE
YSLALVTVLNEYERALDVAAEPKHERQHRAQIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALMRILMRSRVLNEEPLTLAGEEIVAQGKRSDP
RSLLCYGGAPGPGCHFSIPEAFSGALANLSDVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNS
DWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEPYLAVYLHSEPRPNEHNCSASRRIRPESLQG
ADHRPYTFFISPGSRDPAGSYHLNLSSHFRWSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPS
HVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKYEILVKTGWGRGSGTTAHVGIMLYGVDSRSG
HRHLDGDRAFHRNSLDIFRIATPHSLGSVWKIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDA
ALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYGAVGDSAYSTGHVSRLSPLSVDTVAVGLVSS
VVVYPVYLAILFLFRMSRSKVAGSPSPTPAGQQVLDIDSCLDSSVLDSSFLTFSGLHAEAFVGQMKSDLFLDDSKSLVCWPSGEGTLSWP
DLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEGVSSPAPTQDTHMETDLLSSLIIQQLVNGIIT
PATIPSLGPWGVLHSNPMDYAWGANGLDAIITQLLNQFENTGPPPADKEKIQALPTVPVTEEHVGSGLECPVCKDDYALGERVRQLPCNH

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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/chr16:2147148/chr19:650296)
- 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
..
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: 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.

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
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461023_11293499.66666666666654304.0DomainPKD 5
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461127_12153499.66666666666654304.0DomainPKD 6
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461213_12983499.66666666666654304.0DomainPKD 7
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446125_1783499.66666666666654304.0DomainNote=LRRCT
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461294_13833499.66666666666654304.0DomainPKD 8
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461382_14693499.66666666666654304.0DomainPKD 9
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461468_15513499.66666666666654304.0DomainPKD 10
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461550_16353499.66666666666654304.0DomainPKD 11
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461634_17213499.66666666666654304.0DomainPKD 12
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461719_18053499.66666666666654304.0DomainPKD 13
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446177_2713499.66666666666654304.0DomainWSC
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461807_18903499.66666666666654304.0DomainPKD 14
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461889_19743499.66666666666654304.0DomainPKD 15
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34461977_20573499.66666666666654304.0DomainPKD 16
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34462060_21483499.66666666666654304.0DomainPKD 17
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34462146_28333499.66666666666654304.0DomainREJ
HgenePKD1chr16:2147148chr19:650296ENST00000262304-344624_673499.66666666666654304.0DomainNote=LRRNT
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446272_3593499.66666666666654304.0DomainPKD 1
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463012_30613499.66666666666654304.0DomainGPS
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463118_32333499.66666666666654304.0DomainPLAT
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446415_5313499.66666666666654304.0DomainC-type lectin
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446638_6713499.66666666666654304.0DomainNote=LDL-receptor class A%3B atypical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446743_8173499.66666666666654304.0DomainPKD 2
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446855_9283499.66666666666654304.0DomainPKD 3
HgenePKD1chr16:2147148chr19:650296ENST00000262304-3446935_10203499.66666666666654304.0DomainPKD 4
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461023_11293498.66666666666654303.0DomainPKD 5
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461127_12153498.66666666666654303.0DomainPKD 6
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461213_12983498.66666666666654303.0DomainPKD 7
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446125_1783498.66666666666654303.0DomainNote=LRRCT
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461294_13833498.66666666666654303.0DomainPKD 8
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461382_14693498.66666666666654303.0DomainPKD 9
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461468_15513498.66666666666654303.0DomainPKD 10
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461550_16353498.66666666666654303.0DomainPKD 11
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461634_17213498.66666666666654303.0DomainPKD 12
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461719_18053498.66666666666654303.0DomainPKD 13
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446177_2713498.66666666666654303.0DomainWSC
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461807_18903498.66666666666654303.0DomainPKD 14
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461889_19743498.66666666666654303.0DomainPKD 15
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34461977_20573498.66666666666654303.0DomainPKD 16
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34462060_21483498.66666666666654303.0DomainPKD 17
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34462146_28333498.66666666666654303.0DomainREJ
HgenePKD1chr16:2147148chr19:650296ENST00000423118-344624_673498.66666666666654303.0DomainNote=LRRNT
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446272_3593498.66666666666654303.0DomainPKD 1
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463012_30613498.66666666666654303.0DomainGPS
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463118_32333498.66666666666654303.0DomainPLAT
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446415_5313498.66666666666654303.0DomainC-type lectin
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446638_6713498.66666666666654303.0DomainNote=LDL-receptor class A%3B atypical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446743_8173498.66666666666654303.0DomainPKD 2
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446855_9283498.66666666666654303.0DomainPKD 3
HgenePKD1chr16:2147148chr19:650296ENST00000423118-3446935_10203498.66666666666654303.0DomainPKD 4
HgenePKD1chr16:2147148chr19:650296ENST00000262304-344668_913499.66666666666654304.0RepeatNote=LRR 1
HgenePKD1chr16:2147148chr19:650296ENST00000262304-344692_1133499.66666666666654304.0RepeatNote=LRR 2
HgenePKD1chr16:2147148chr19:650296ENST00000423118-344668_913498.66666666666654303.0RepeatNote=LRR 1
HgenePKD1chr16:2147148chr19:650296ENST00000423118-344692_1133498.66666666666654303.0RepeatNote=LRR 2
HgenePKD1chr16:2147148chr19:650296ENST00000262304-344624_30743499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463096_32773499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463299_33233499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-344624_30743498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463096_32773498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463299_33233498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463075_30953499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463278_32983499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463324_33443499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463075_30953498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463278_32983498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463324_33443498.66666666666654303.0TransmembraneHelical
TgeneRNF126chr16:2147148chr19:650296ENST0000029236339289_303147.66666666666666312.0Compositional biasNote=Ser-rich
TgeneRNF126chr16:2147148chr19:650296ENST0000029236339229_270147.66666666666666312.0Zinc fingerRING-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464220_42513499.66666666666654304.0Coiled coilOntology_term=ECO:0000255
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464220_42513498.66666666666654303.0Coiled coilOntology_term=ECO:0000255
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463345_35593499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463581_35823499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463604_36653499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463687_39013499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463923_39353499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463957_39843499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464006_40273499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464049_40903499.66666666666654304.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464111_43033499.66666666666654304.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463345_35593498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463581_35823498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463604_36653498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463687_39013498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463923_39353498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463957_39843498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464006_40273498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464049_40903498.66666666666654303.0Topological domainExtracellular
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464111_43033498.66666666666654303.0Topological domainCytoplasmic
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463560_35803499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463583_36033499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463666_36863499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463902_39223499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463936_39563499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463985_40053499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464028_40483499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34464091_41103499.66666666666654304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463560_35803498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463583_36033498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463666_36863498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463902_39223498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463936_39563498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463985_40053498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464028_40483498.66666666666654303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34464091_41103498.66666666666654303.0TransmembraneHelical
TgeneRNF126chr16:2147148chr19:650296ENST000002923633913_32147.66666666666666312.0Zinc fingerC4-type


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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
PKD1
RNF126


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


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Related Drugs to PKD1-RNF126


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 PKD1-RNF126


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