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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:PRNP-PRNP (FusionGDB2 ID:HG5621TG5621)

Fusion Gene Summary for PRNP-PRNP

check button Fusion gene summary
Fusion gene informationFusion gene name: PRNP-PRNP
Fusion gene ID: hg5621tg5621
HgeneTgene
Gene symbol

PRNP

PRNP

Gene ID

5621

5621

Gene nameprion proteinprion protein
SynonymsASCR|AltPrP|CD230|CJD|GSS|KURU|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|p27-30ASCR|AltPrP|CD230|CJD|GSS|KURU|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|p27-30
Cytomap('PRNP')('PRNP')

20p13

20p13

Type of geneprotein-codingprotein-coding
Descriptionmajor prion proteinalternative prion proteinCD230 antigenprion-related proteinmajor prion proteinalternative prion proteinCD230 antigenprion-related protein
Modification date2020031520200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000379440, ENST00000430350, 
ENST00000379440, ENST00000430350, 
Fusion gene scores* DoF score4 X 6 X 1=243 X 5 X 1=15
# samples 65
** MAII scorelog2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/15*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PRNP [Title/Abstract] AND PRNP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRNP(4681875)-PRNP(4681551), # samples:1
PRNP(4682107)-PRNP(4682029), # samples:1
PRNP(4667114)-PRNP(4679879), # 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
HgenePRNP

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

22820466

HgenePRNP

GO:0071280

cellular response to copper ion

16254249

TgenePRNP

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

22820466

TgenePRNP

GO:0071280

cellular response to copper ion

16254249



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
ChiTaRS5.0N/ABU689989PRNPchr20

4681875

-PRNPchr20

4681551

+
ChiTaRS5.0N/ACA312794PRNPchr20

4682107

-PRNPchr20

4682029

+
ChiTaRS5.0N/AM13667PRNPchr20

4667114

-PRNPchr20

4679879

+


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Fusion Gene ORF analysis for PRNP-PRNP

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
3UTR-3UTRENST00000379440ENST00000379440PRNPchr20

4681875

-PRNPchr20

4681551

+
3UTR-3UTRENST00000379440ENST00000379440PRNPchr20

4682107

-PRNPchr20

4682029

+
3UTR-3UTRENST00000379440ENST00000430350PRNPchr20

4681875

-PRNPchr20

4681551

+
3UTR-3UTRENST00000379440ENST00000430350PRNPchr20

4682107

-PRNPchr20

4682029

+
3UTR-3UTRENST00000430350ENST00000379440PRNPchr20

4681875

-PRNPchr20

4681551

+
3UTR-3UTRENST00000430350ENST00000379440PRNPchr20

4682107

-PRNPchr20

4682029

+
3UTR-3UTRENST00000430350ENST00000430350PRNPchr20

4681875

-PRNPchr20

4681551

+
3UTR-3UTRENST00000430350ENST00000430350PRNPchr20

4682107

-PRNPchr20

4682029

+
5UTR-3CDSENST00000379440ENST00000379440PRNPchr20

4667114

-PRNPchr20

4679879

+
5UTR-3CDSENST00000379440ENST00000430350PRNPchr20

4667114

-PRNPchr20

4679879

+
5UTR-3CDSENST00000430350ENST00000379440PRNPchr20

4667114

-PRNPchr20

4679879

+
5UTR-3CDSENST00000430350ENST00000430350PRNPchr20

4667114

-PRNPchr20

4679879

+

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)

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

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Fusion Genomic Features for PRNP-PRNP


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)


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Fusion Protein Features for PRNP-PRNP


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/:4681875/:4681551)
- 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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for PRNP-PRNP


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.

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Fusion Gene PPI Analysis for PRNP-PRNP


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 PRNP-PRNP


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 PRNP-PRNP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRNPC0017495Gerstmann-Straussler-Scheinker Disease14CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePRNPC0022336Creutzfeldt-Jakob disease13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePRNPC0206042Fatal Familial Insomnia5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePRNPC0036457Scrapie4CTD_human
HgenePRNPC0162534Prion Diseases4CTD_human
HgenePRNPC0751645Human Transmissible Spongiform Encephalopathies, Inherited4CTD_human
HgenePRNPC0376329New Variant Creutzfeldt-Jakob Disease3CTD_human;ORPHANET
HgenePRNPC0751254Creutzfeldt-Jakob Disease, Familial3CTD_human;ORPHANET
HgenePRNPC1864112HUNTINGTON DISEASE-LIKE 13CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePRNPC0497327Dementia2GENOMICS_ENGLAND
HgenePRNPC1847650SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES2CTD_human;UNIPROT
HgenePRNPC0002395Alzheimer's Disease1CTD_human
HgenePRNPC0011265Presenile dementia1CTD_human
HgenePRNPC0011581Depressive disorder1PSYGENET
HgenePRNPC0019202Hepatolenticular Degeneration1CTD_human
HgenePRNPC0022802Kuru1CTD_human;ORPHANET
HgenePRNPC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePRNPC0024623Malignant neoplasm of stomach1CTD_human
HgenePRNPC0027540Necrosis1CTD_human
HgenePRNPC0027627Neoplasm Metastasis1CTD_human
HgenePRNPC0027659Neoplasms, Experimental1CTD_human
HgenePRNPC0033578Prostatic Neoplasms1CTD_human
HgenePRNPC0038356Stomach Neoplasms1CTD_human
HgenePRNPC0276496Familial Alzheimer Disease (FAD)1CTD_human
HgenePRNPC0376358Malignant neoplasm of prostate1CTD_human
HgenePRNPC0494463Alzheimer Disease, Late Onset1CTD_human
HgenePRNPC0525045Mood Disorders1PSYGENET
HgenePRNPC0546126Acute Confusional Senile Dementia1CTD_human
HgenePRNPC0750900Alzheimer's Disease, Focal Onset1CTD_human
HgenePRNPC0750901Alzheimer Disease, Early Onset1CTD_human
HgenePRNPC0751776Atypical Inclusion-Body Disease1CTD_human
HgenePRNPC0751777Familial Progressive Myoclonic Epilepsy1CTD_human
HgenePRNPC0751778Myoclonic Epilepsies, Progressive1CTD_human
HgenePRNPC0751779Action Myoclonus-Renal Failure Syndrome1CTD_human
HgenePRNPC0751780Biotin-Responsive Encephalopathy1CTD_human
HgenePRNPC0751781Dentatorubral-Pallidoluysian Atrophy1CTD_human
HgenePRNPC0751782May-White Syndrome1CTD_human
HgenePRNPC1527352Hepatic Form of Wilson Disease1CTD_human
HgenePRNPC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgenePRNPC1852467Creutzfeldt-Jakob Disease, Sporadic1ORPHANET
HgenePRNPC1969957Creutzfeldt-Jakob Disease, Heidenhain Variant1ORPHANET
HgenePRNPC2362914clinical depression1PSYGENET
HgenePRNPC4303482Familial Alzheimer-like prion disease1ORPHANET
TgeneC0017495Gerstmann-Straussler-Scheinker Disease14CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0022336Creutzfeldt-Jakob disease13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0206042Fatal Familial Insomnia5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0036457Scrapie4CTD_human
TgeneC0162534Prion Diseases4CTD_human
TgeneC0751645Human Transmissible Spongiform Encephalopathies, Inherited4CTD_human
TgeneC0376329New Variant Creutzfeldt-Jakob Disease3CTD_human;ORPHANET
TgeneC0751254Creutzfeldt-Jakob Disease, Familial3CTD_human;ORPHANET
TgeneC1864112HUNTINGTON DISEASE-LIKE 13CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0497327Dementia2GENOMICS_ENGLAND
TgeneC1847650SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES2CTD_human;UNIPROT
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0019202Hepatolenticular Degeneration1CTD_human
TgeneC0022802Kuru1CTD_human;ORPHANET
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0751776Atypical Inclusion-Body Disease1CTD_human
TgeneC0751777Familial Progressive Myoclonic Epilepsy1CTD_human
TgeneC0751778Myoclonic Epilepsies, Progressive1CTD_human
TgeneC0751779Action Myoclonus-Renal Failure Syndrome1CTD_human
TgeneC0751780Biotin-Responsive Encephalopathy1CTD_human
TgeneC0751781Dentatorubral-Pallidoluysian Atrophy1CTD_human
TgeneC0751782May-White Syndrome1CTD_human
TgeneC1527352Hepatic Form of Wilson Disease1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1852467Creutzfeldt-Jakob Disease, Sporadic1ORPHANET
TgeneC1969957Creutzfeldt-Jakob Disease, Heidenhain Variant1ORPHANET
TgeneC2362914clinical depression1PSYGENET
TgeneC4303482Familial Alzheimer-like prion disease1ORPHANET