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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PKD1-RAVER1 (FusionGDB2 ID:65255)

Fusion Gene Summary for PKD1-RAVER1

check button Fusion gene summary
Fusion gene informationFusion gene name: PKD1-RAVER1
Fusion gene ID: 65255
HgeneTgene
Gene symbol

PKD1

RAVER1

Gene ID

5310

125950

Gene namepolycystin 1, transient receptor potential channel interactingribonucleoprotein, PTB binding 1
SynonymsPBP|PC1|Pc-1|TRPP1-
Cytomap

16p13.3

19p13.2

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 1ribonucleoprotein PTB-binding 1protein raver-1
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000423118, ENST00000262304, 
ENST00000561991, 		ENST00000293677, 
Fusion gene scores* DoF score14 X 13 X 9=16386 X 6 X 3=108
# samples 146
** MAII scorelog2(14/1638*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PKD1 [Title/Abstract] AND RAVER1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPKD1(2168676)-RAVER1(10439787), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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


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.

check buttonFusion gene breakpoints across RAVER1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4OVTCGA-24-1428PKD1chr16

2168676

-RAVER1chr19

10439787

-


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Fusion Gene ORF analysis for PKD1-RAVER1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000423118ENST00000293677PKD1chr16

2168676

-RAVER1chr19

10439787

-
In-frameENST00000262304ENST00000293677PKD1chr16

2168676

-RAVER1chr19

10439787

-
intron-3CDSENST00000561991ENST00000293677PKD1chr16

2168676

-RAVER1chr19

10439787

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000423118PKD1chr162168676-ENST00000293677RAVER1chr1910439787-39147382092671820
ENST00000262304PKD1chr162168676-ENST00000293677RAVER1chr1910439787-39147382092671820

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
ENST00000423118ENST00000293677PKD1chr162168676-RAVER1chr1910439787-0.0231522250.97684777
ENST00000262304ENST00000293677PKD1chr162168676-RAVER1chr1910439787-0.0231522250.97684777

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Fusion Genomic Features for PKD1-RAVER1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PKD1-RAVER1


check button Go to

FGviewer for the breakpoints of chr16:2168676-chr19:10439787

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446125_178176.333333333333344304.0DomainNote=LRRCT
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-44624_67176.333333333333344304.0DomainNote=LRRNT
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446125_178176.333333333333344303.0DomainNote=LRRCT
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-44624_67176.333333333333344303.0DomainNote=LRRNT
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-44668_91176.333333333333344304.0RepeatNote=LRR 1
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-44692_113176.333333333333344304.0RepeatNote=LRR 2
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-44668_91176.333333333333344303.0RepeatNote=LRR 1
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-44692_113176.333333333333344303.0RepeatNote=LRR 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464220_4251176.333333333333344304.0Coiled coilOntology_term=ECO:0000255
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464220_4251176.333333333333344303.0Coiled coilOntology_term=ECO:0000255
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461023_1129176.333333333333344304.0DomainPKD 5
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461127_1215176.333333333333344304.0DomainPKD 6
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461213_1298176.333333333333344304.0DomainPKD 7
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461294_1383176.333333333333344304.0DomainPKD 8
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461382_1469176.333333333333344304.0DomainPKD 9
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461468_1551176.333333333333344304.0DomainPKD 10
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461550_1635176.333333333333344304.0DomainPKD 11
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461634_1721176.333333333333344304.0DomainPKD 12
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461719_1805176.333333333333344304.0DomainPKD 13
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446177_271176.333333333333344304.0DomainWSC
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461807_1890176.333333333333344304.0DomainPKD 14
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461889_1974176.333333333333344304.0DomainPKD 15
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4461977_2057176.333333333333344304.0DomainPKD 16
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4462060_2148176.333333333333344304.0DomainPKD 17
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4462146_2833176.333333333333344304.0DomainREJ
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446272_359176.333333333333344304.0DomainPKD 1
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463012_3061176.333333333333344304.0DomainGPS
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463118_3233176.333333333333344304.0DomainPLAT
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446415_531176.333333333333344304.0DomainC-type lectin
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446638_671176.333333333333344304.0DomainNote=LDL-receptor class A%3B atypical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446743_817176.333333333333344304.0DomainPKD 2
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446855_928176.333333333333344304.0DomainPKD 3
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-446935_1020176.333333333333344304.0DomainPKD 4
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461023_1129176.333333333333344303.0DomainPKD 5
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461127_1215176.333333333333344303.0DomainPKD 6
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461213_1298176.333333333333344303.0DomainPKD 7
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461294_1383176.333333333333344303.0DomainPKD 8
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461382_1469176.333333333333344303.0DomainPKD 9
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461468_1551176.333333333333344303.0DomainPKD 10
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461550_1635176.333333333333344303.0DomainPKD 11
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461634_1721176.333333333333344303.0DomainPKD 12
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461719_1805176.333333333333344303.0DomainPKD 13
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446177_271176.333333333333344303.0DomainWSC
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461807_1890176.333333333333344303.0DomainPKD 14
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461889_1974176.333333333333344303.0DomainPKD 15
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4461977_2057176.333333333333344303.0DomainPKD 16
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4462060_2148176.333333333333344303.0DomainPKD 17
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4462146_2833176.333333333333344303.0DomainREJ
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446272_359176.333333333333344303.0DomainPKD 1
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463012_3061176.333333333333344303.0DomainGPS
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463118_3233176.333333333333344303.0DomainPLAT
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446415_531176.333333333333344303.0DomainC-type lectin
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446638_671176.333333333333344303.0DomainNote=LDL-receptor class A%3B atypical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446743_817176.333333333333344303.0DomainPKD 2
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446855_928176.333333333333344303.0DomainPKD 3
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-446935_1020176.333333333333344303.0DomainPKD 4
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-44624_3074176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463096_3277176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463299_3323176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463345_3559176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463581_3582176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463604_3665176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463687_3901176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463923_3935176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463957_3984176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464006_4027176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464049_4090176.333333333333344304.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464111_4303176.333333333333344304.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-44624_3074176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463096_3277176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463299_3323176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463345_3559176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463581_3582176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463604_3665176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463687_3901176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463923_3935176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463957_3984176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464006_4027176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464049_4090176.333333333333344303.0Topological domainExtracellular
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464111_4303176.333333333333344303.0Topological domainCytoplasmic
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463075_3095176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463278_3298176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463324_3344176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463560_3580176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463583_3603176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463666_3686176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463902_3922176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463936_3956176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4463985_4005176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464028_4048176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000262304-4464091_4110176.333333333333344304.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463075_3095176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463278_3298176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463324_3344176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463560_3580176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463583_3603176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463666_3686176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463902_3922176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463936_3956176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4463985_4005176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464028_4048176.333333333333344303.0TransmembraneHelical
HgenePKD1chr16:2168676chr19:10439787ENST00000423118-4464091_4110176.333333333333344303.0TransmembraneHelical


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Fusion Gene Sequence for PKD1-RAVER1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000423118_ENST00000293677_TCGA-24-1428_PKD1_chr16_2168676_-_RAVER1_chr19_10439787_length(transcript)=3914nt_BP=738nt
GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCG
CGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGAC
GGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGG
CGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACT
GCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCTAGACGTCTCCCACAACCTGCTCCGGG
CGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCTGGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATAT
TTGCTAATTTATTTAATTTAAGTGAAATAAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGG
AGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCT
TGCTGGACAGTGGCTGTGCCTTCGTGACCCTGCTGAATGGGGAGCAGGCCGAGGCCGCAATCAATGCTTTCCACCAGAGCCGCCTGCGGG
AGCGTGAACTGTCGGTGCAGCTGCAGCCCACGGATGCCCTGCTGTGTGTGGCCAACCTGCCCCCCAGCCTCACACAGCAGCAGTTCGAGG
AGCTGGTGCGGCCCTTCGGCAGCCTGGAGCGCTGCTTCCTGGTCTACAGTGAGCGCACTGGCCAATCCAAGGGCTATGGCTTTGCTGAGT
ACATGAAGAAGGACTCGGCTGCCCGTGCCAAGTCGGACCTGCTGGGCAAGCCGCTGGGACCACGCACCCTCTACGTGCACTGGACGGATG
CCGGGCAACTGACGCCTGCCCTTCTCCACTCCCGCTGCCTCTGTGTGGACCGCCTGCCACCTGGCTTCAACGATGTGGACGCTCTGTGCC
GGGCGCTGTCAGCTGTCCACAGCCCCACCTTCTGCCAGCTGGCGTGCGGCCAGGATGGGCAGCTGAAGGGCTTCGCGGTGCTGGAGTATG
AGACGGCTGAGATGGCGGAGGAGGCACAGCAGCAGGCGGACGGCCTGTCCCTGGGGGGCAGCCACCTGCGAGTCTCCTTCTGCGCCCCTG
GGCCCCCCGGCCGCAGTATGCTGGCCGCTCTCATCGCTGCCCAGGCCACGGCCCTCAATCGGGGGAAGGGACTCCTCCCCGAGCCCAACA
TCCTGCAGCTGCTCAACAACCTGGGCCCATCCGCGTCCCTCCAGCTGCTGCTCAACCCCCTGCTCCATGGCAGTGCGGGGGGGAAGCAGG
GCCTCCTGGGTGCCCCCCCAGCCATGCCGCTGCTCAATGGGCCAGCCCTGTCCACGGCGCTGTTGCAGCTCGCCCTGCAGACCCAGGGCC
AGAAGAAGCCCGGCATCCTGGGAGACTCACCCCTGGGCGCCCTCCAGCCTGGGGCCCAGCCAGCCAACCCCCTCCTCGGGGAGCTGCCTG
CAGGAGGGGGCCTGCCCCCGGAGCTGCCGCCCCGGCGAGGGAAGCCACCACCCCTGCTGCCATCCGTGCTTGGCCCTGCTGGGGGTGACC
GGGAGGCCCTGGGCTTGGGTCCCCCAGCGGCCCAGCTCACTCCTCCCCCCGCCCCTGTGGGGCTCCGAGGCTCTGGCCTCAGAGGCCTCC
AGAAAGACAGTGGGCCTCTGCCGACGCCCCCTGGGGTCTCACTGCTGGGGGAGCCCCCCAAGGACTACCGGATTCCCCTGAATCCCTACC
TGAACCTACACAGCCTGCTCCCGGCCAGCAACCTGGCGGGTAAGGAGGCCCGGGGCTGGGGAGGCGCCGGGAGAAGCCGCCGCCCAGCTG
AGGGCCCCCCAACTAACCCCCCAGCCCCTGGAGGTGGCAGCAGCAGCAGCAAAGCCTTCCAGCTCAAGTCCCGCCTGCTCAGCCCCCTCA
GCAGCGCCCGCCTGCCCCCCGAACCAGGACTGTCTGACAGCTACAGCTTCGACTACCCCTCGGACATGGGACCTCGGCGGCTCTTCTCCC
ACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGATGTCCCCCCCGCCCAGTGGCTTCGGCGAACGGAGCAGCGGTG
GGAGTGGCGGGGGCCCCCTGTCTCACTTCTATTCAGGCTCGCCCACTTCCTACTTCACCAGCGGCCTGCAGGCTGGCCTCAAGCAGAGCC
ACCTCAGTAAGGCAATCGGCTCTTCCCCGCTGGGGTCCGGAGAAGGGCTCCTGGGCCTCAGCCCCGGGCCTAATGGTCACAGCCACCTGC
TGAAGACCCCACTGGGCGGCCAGAAACGCAGCTTTGCCCACCTGCTGCCCTCGCCCGAGCCCAGCCCAGAAGGCAGCTATGTGGGCCAGC
ACTCCCAGGGCCTCGGCGGCCACTACGCGGACTCCTACCTGAAGCGGAAGAGGATTTTCTAAGTGGCTGGCACCAGAGATAACTCAAGGG
CCTGCACCAAATCGCTTTTGGGTTTTCTGATGTTTTGTTTTGTGTTTTTTTTAAACCATTTTCTCTCTTTCGGTAATAGAAAAATCTCTG
AAAGACTTTACTGACCAATCAGCCGGAGCCCCAGGAGCCCAAGGGGTGTGGGGGAGTCTGGAGGCCTCATTATGTCTCTGGCTTGCTCCC
CACGCTGAAACCCTGCAGCCTTAAGAGAGAGGGGCCCCGGCCTGCTCTCCCTCCCTCCCCCCATCTCCTCCTCCGCTGTGCCCGTCTCTC
CGGAGCCCTCCTGCCTCATTGCTCCTGTAATTTTGGCCTTTCGAGTGCCTTGGAGGTTTCCCTGACCTCCCGTGAAGATACAGAGACTGT
CTCCTTTTTTTTTAACTTTGACAACTGACTTCTGTTTCCTTTTCTAAGTTTTATTTTTCAAACCACCCCGGACAGCCCCCAGCTCTGATT
CCTTCAAGGCCCGGCCTGTCCGGGCCACCATTCCACACCTTGCGGTTTGAAACAGCTGTTTTTCCCACATTTGCTGCAGGCATGGCTGTC
TCCTGCCCCTGCCTGCCCATCTGGCCTATACCCCAGCCGTGGGGCCCGGGGTCCCTGCCGCAGCCCCCTCCCCTTCTGATGCCTTAAAAG
CTGGGCCCCAGGCCCTGCTGGCCAGAGCCACAGATGCCAAGCTCTGGGAGCTTGACTATGGACCAAACAGCTCTGGCCTAGGGATTGGGC
CACCCTACCCAGGATCTCCACCCTGGGGACAGTAGAAGGGGAAAGCCTTCATCTTGGCGAACCGGCCCCACCACCCCCTCCTACCCGGGC
CTCCGTGCAGAGATGGGCTTTCTCTGCCAGTCCCCTGCTGTCTGTCTGTGGGAGTCGGACATTGTGCCCATCTCCCGGAGCCTCTGCTGT
CACTCGCTTGTTGAAGATGAATTCTTGAATTCTGCCTGCCCACCCCCGGCCAGATCCCTGGAGCTGGCCTCCTTCCAGCCCAGTGCCAGA
AACCAGCACTCCATGAAGATAAACTCTGGGCCCGCCCACCAGCAGGACCTGTCGACCTGAGGTGACCCTGGGCCTTGCCCCCAGCCAACT
GGGCCACCAGCTTCCCTCCCTTGACTCTGGGGGTCCACATCCACTCCAAGGGGACTATTCCCCCGACCCCACCCCAGTCTCCCCACACGG

>In-frame_ENST00000423118_ENST00000293677_TCGA-24-1428_PKD1_chr16_2168676_-_RAVER1_chr19_10439787_length(amino acids)=820AA_start in transcript=209_stop in transcript=2671
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANL
SALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCAFVT
LLNGEQAEAAINAFHQSRLRERELSVQLQPTDALLCVANLPPSLTQQQFEELVRPFGSLERCFLVYSERTGQSKGYGFAEYMKKDSAARA
KSDLLGKPLGPRTLYVHWTDAGQLTPALLHSRCLCVDRLPPGFNDVDALCRALSAVHSPTFCQLACGQDGQLKGFAVLEYETAEMAEEAQ
QQADGLSLGGSHLRVSFCAPGPPGRSMLAALIAAQATALNRGKGLLPEPNILQLLNNLGPSASLQLLLNPLLHGSAGGKQGLLGAPPAMP
LLNGPALSTALLQLALQTQGQKKPGILGDSPLGALQPGAQPANPLLGELPAGGGLPPELPPRRGKPPPLLPSVLGPAGGDREALGLGPPA
AQLTPPPAPVGLRGSGLRGLQKDSGPLPTPPGVSLLGEPPKDYRIPLNPYLNLHSLLPASNLAGKEARGWGGAGRSRRPAEGPPTNPPAP
GGGSSSSKAFQLKSRLLSPLSSARLPPEPGLSDSYSFDYPSDMGPRRLFSHPREPALGPHGPSRHKMSPPPSGFGERSSGGSGGGPLSHF
YSGSPTSYFTSGLQAGLKQSHLSKAIGSSPLGSGEGLLGLSPGPNGHSHLLKTPLGGQKRSFAHLLPSPEPSPEGSYVGQHSQGLGGHYA

--------------------------------------------------------------
>In-frame_ENST00000262304_ENST00000293677_TCGA-24-1428_PKD1_chr16_2168676_-_RAVER1_chr19_10439787_length(transcript)=3914nt_BP=738nt
GCACTGCAGCGCCAGCGTCCGAGCGGGCGGCCGAGCTCCCGGAGCGGCCTGGCCCCGAGCCCCGAGCGGGCGTCGCTCAGCAGCAGGTCG
CGGCCGCAGCCCCATCCAGCCCCGCGCCCGCCATGCCGTCCGCGGGCCCCGCCTGAGCTGCGGCCTCCGCGCGCGGGCGGGCCTGGGGAC
GGCGGGGCCATGCGCGCGCTGCCCTAACGATGCCGCCCGCCGCGCCCGCCCGCCTGGCGCTGGCCCTGGGCCTGGGCCTGTGGCTCGGGG
CGCTGGCGGGGGGCCCCGGGCGCGGCTGCGGGCCCTGCGAGCCCCCCTGCCTCTGCGGCCCAGCGCCCGGCGCCGCCTGCCGCGTCAACT
GCTCGGGCCGCGGGCTGCGGACGCTCGGTCCCGCGCTGCGCATCCCCGCGGACGCCACAGCGCTAGACGTCTCCCACAACCTGCTCCGGG
CGCTGGACGTTGGGCTCCTGGCGAACCTCTCGGCGCTGGCAGAGCTGGATATAAGCAACAACAAGATTTCTACGTTAGAAGAAGGAATAT
TTGCTAATTTATTTAATTTAAGTGAAATAAACCTGAGTGGGAACCCGTTTGAGTGTGACTGTGGCCTGGCGTGGCTGCCGCGATGGGCGG
AGGAGCAGCAGGTGCGGGTGGTGCAGCCCGAGGCAGCCACGTGTGCTGGGCCTGGCTCCCTGGCTGGCCAGCCTCTGCTTGGCATCCCCT
TGCTGGACAGTGGCTGTGCCTTCGTGACCCTGCTGAATGGGGAGCAGGCCGAGGCCGCAATCAATGCTTTCCACCAGAGCCGCCTGCGGG
AGCGTGAACTGTCGGTGCAGCTGCAGCCCACGGATGCCCTGCTGTGTGTGGCCAACCTGCCCCCCAGCCTCACACAGCAGCAGTTCGAGG
AGCTGGTGCGGCCCTTCGGCAGCCTGGAGCGCTGCTTCCTGGTCTACAGTGAGCGCACTGGCCAATCCAAGGGCTATGGCTTTGCTGAGT
ACATGAAGAAGGACTCGGCTGCCCGTGCCAAGTCGGACCTGCTGGGCAAGCCGCTGGGACCACGCACCCTCTACGTGCACTGGACGGATG
CCGGGCAACTGACGCCTGCCCTTCTCCACTCCCGCTGCCTCTGTGTGGACCGCCTGCCACCTGGCTTCAACGATGTGGACGCTCTGTGCC
GGGCGCTGTCAGCTGTCCACAGCCCCACCTTCTGCCAGCTGGCGTGCGGCCAGGATGGGCAGCTGAAGGGCTTCGCGGTGCTGGAGTATG
AGACGGCTGAGATGGCGGAGGAGGCACAGCAGCAGGCGGACGGCCTGTCCCTGGGGGGCAGCCACCTGCGAGTCTCCTTCTGCGCCCCTG
GGCCCCCCGGCCGCAGTATGCTGGCCGCTCTCATCGCTGCCCAGGCCACGGCCCTCAATCGGGGGAAGGGACTCCTCCCCGAGCCCAACA
TCCTGCAGCTGCTCAACAACCTGGGCCCATCCGCGTCCCTCCAGCTGCTGCTCAACCCCCTGCTCCATGGCAGTGCGGGGGGGAAGCAGG
GCCTCCTGGGTGCCCCCCCAGCCATGCCGCTGCTCAATGGGCCAGCCCTGTCCACGGCGCTGTTGCAGCTCGCCCTGCAGACCCAGGGCC
AGAAGAAGCCCGGCATCCTGGGAGACTCACCCCTGGGCGCCCTCCAGCCTGGGGCCCAGCCAGCCAACCCCCTCCTCGGGGAGCTGCCTG
CAGGAGGGGGCCTGCCCCCGGAGCTGCCGCCCCGGCGAGGGAAGCCACCACCCCTGCTGCCATCCGTGCTTGGCCCTGCTGGGGGTGACC
GGGAGGCCCTGGGCTTGGGTCCCCCAGCGGCCCAGCTCACTCCTCCCCCCGCCCCTGTGGGGCTCCGAGGCTCTGGCCTCAGAGGCCTCC
AGAAAGACAGTGGGCCTCTGCCGACGCCCCCTGGGGTCTCACTGCTGGGGGAGCCCCCCAAGGACTACCGGATTCCCCTGAATCCCTACC
TGAACCTACACAGCCTGCTCCCGGCCAGCAACCTGGCGGGTAAGGAGGCCCGGGGCTGGGGAGGCGCCGGGAGAAGCCGCCGCCCAGCTG
AGGGCCCCCCAACTAACCCCCCAGCCCCTGGAGGTGGCAGCAGCAGCAGCAAAGCCTTCCAGCTCAAGTCCCGCCTGCTCAGCCCCCTCA
GCAGCGCCCGCCTGCCCCCCGAACCAGGACTGTCTGACAGCTACAGCTTCGACTACCCCTCGGACATGGGACCTCGGCGGCTCTTCTCCC
ACCCACGGGAACCAGCCCTTGGGCCTCACGGACCCAGCCGACACAAGATGTCCCCCCCGCCCAGTGGCTTCGGCGAACGGAGCAGCGGTG
GGAGTGGCGGGGGCCCCCTGTCTCACTTCTATTCAGGCTCGCCCACTTCCTACTTCACCAGCGGCCTGCAGGCTGGCCTCAAGCAGAGCC
ACCTCAGTAAGGCAATCGGCTCTTCCCCGCTGGGGTCCGGAGAAGGGCTCCTGGGCCTCAGCCCCGGGCCTAATGGTCACAGCCACCTGC
TGAAGACCCCACTGGGCGGCCAGAAACGCAGCTTTGCCCACCTGCTGCCCTCGCCCGAGCCCAGCCCAGAAGGCAGCTATGTGGGCCAGC
ACTCCCAGGGCCTCGGCGGCCACTACGCGGACTCCTACCTGAAGCGGAAGAGGATTTTCTAAGTGGCTGGCACCAGAGATAACTCAAGGG
CCTGCACCAAATCGCTTTTGGGTTTTCTGATGTTTTGTTTTGTGTTTTTTTTAAACCATTTTCTCTCTTTCGGTAATAGAAAAATCTCTG
AAAGACTTTACTGACCAATCAGCCGGAGCCCCAGGAGCCCAAGGGGTGTGGGGGAGTCTGGAGGCCTCATTATGTCTCTGGCTTGCTCCC
CACGCTGAAACCCTGCAGCCTTAAGAGAGAGGGGCCCCGGCCTGCTCTCCCTCCCTCCCCCCATCTCCTCCTCCGCTGTGCCCGTCTCTC
CGGAGCCCTCCTGCCTCATTGCTCCTGTAATTTTGGCCTTTCGAGTGCCTTGGAGGTTTCCCTGACCTCCCGTGAAGATACAGAGACTGT
CTCCTTTTTTTTTAACTTTGACAACTGACTTCTGTTTCCTTTTCTAAGTTTTATTTTTCAAACCACCCCGGACAGCCCCCAGCTCTGATT
CCTTCAAGGCCCGGCCTGTCCGGGCCACCATTCCACACCTTGCGGTTTGAAACAGCTGTTTTTCCCACATTTGCTGCAGGCATGGCTGTC
TCCTGCCCCTGCCTGCCCATCTGGCCTATACCCCAGCCGTGGGGCCCGGGGTCCCTGCCGCAGCCCCCTCCCCTTCTGATGCCTTAAAAG
CTGGGCCCCAGGCCCTGCTGGCCAGAGCCACAGATGCCAAGCTCTGGGAGCTTGACTATGGACCAAACAGCTCTGGCCTAGGGATTGGGC
CACCCTACCCAGGATCTCCACCCTGGGGACAGTAGAAGGGGAAAGCCTTCATCTTGGCGAACCGGCCCCACCACCCCCTCCTACCCGGGC
CTCCGTGCAGAGATGGGCTTTCTCTGCCAGTCCCCTGCTGTCTGTCTGTGGGAGTCGGACATTGTGCCCATCTCCCGGAGCCTCTGCTGT
CACTCGCTTGTTGAAGATGAATTCTTGAATTCTGCCTGCCCACCCCCGGCCAGATCCCTGGAGCTGGCCTCCTTCCAGCCCAGTGCCAGA
AACCAGCACTCCATGAAGATAAACTCTGGGCCCGCCCACCAGCAGGACCTGTCGACCTGAGGTGACCCTGGGCCTTGCCCCCAGCCAACT
GGGCCACCAGCTTCCCTCCCTTGACTCTGGGGGTCCACATCCACTCCAAGGGGACTATTCCCCCGACCCCACCCCAGTCTCCCCACACGG

>In-frame_ENST00000262304_ENST00000293677_TCGA-24-1428_PKD1_chr16_2168676_-_RAVER1_chr19_10439787_length(amino acids)=820AA_start in transcript=209_stop in transcript=2671
MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLGPALRIPADATALDVSHNLLRALDVGLLANL
SALAELDISNNKISTLEEGIFANLFNLSEINLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCAFVT
LLNGEQAEAAINAFHQSRLRERELSVQLQPTDALLCVANLPPSLTQQQFEELVRPFGSLERCFLVYSERTGQSKGYGFAEYMKKDSAARA
KSDLLGKPLGPRTLYVHWTDAGQLTPALLHSRCLCVDRLPPGFNDVDALCRALSAVHSPTFCQLACGQDGQLKGFAVLEYETAEMAEEAQ
QQADGLSLGGSHLRVSFCAPGPPGRSMLAALIAAQATALNRGKGLLPEPNILQLLNNLGPSASLQLLLNPLLHGSAGGKQGLLGAPPAMP
LLNGPALSTALLQLALQTQGQKKPGILGDSPLGALQPGAQPANPLLGELPAGGGLPPELPPRRGKPPPLLPSVLGPAGGDREALGLGPPA
AQLTPPPAPVGLRGSGLRGLQKDSGPLPTPPGVSLLGEPPKDYRIPLNPYLNLHSLLPASNLAGKEARGWGGAGRSRRPAEGPPTNPPAP
GGGSSSSKAFQLKSRLLSPLSSARLPPEPGLSDSYSFDYPSDMGPRRLFSHPREPALGPHGPSRHKMSPPPSGFGERSSGGSGGGPLSHF
YSGSPTSYFTSGLQAGLKQSHLSKAIGSSPLGSGEGLLGLSPGPNGHSHLLKTPLGGQKRSFAHLLPSPEPSPEGSYVGQHSQGLGGHYA

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

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Fusion Gene PPI Analysis for PKD1-RAVER1


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for PKD1-RAVER1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PKD1-RAVER1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePKD1C3149841POLYCYSTIC KIDNEY DISEASE 143CLINGEN;GENOMICS_ENGLAND;UNIPROT
HgenePKD1C0085413Polycystic Kidney, Autosomal Dominant16CLINGEN;CTD_human
HgenePKD1C0022680Polycystic Kidney Diseases14CLINGEN;CTD_human
HgenePKD1C0887850Polycystic Kidney, Type 1 Autosomal Dominant Disease6CTD_human
HgenePKD1C2751306Polycystic kidney disease, type 26CTD_human
HgenePKD1C1567435Polycystic Kidney - body part3CTD_human
HgenePKD1C1838327Polycystic kidneys, severe infantile with tuberous sclerosis2ORPHANET
HgenePKD1C0009782Connective Tissue Diseases1GENOMICS_ENGLAND
HgenePKD1C0010709Cyst1CTD_human