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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28831

FusionGeneSummary for PRNP_ACTN4

check button Fusion gene summary
Fusion gene informationFusion gene name: PRNP_ACTN4
Fusion gene ID: 28831
HgeneTgene
Gene symbol

PRNP

ACTN4

Gene ID

5621

81

Gene nameprion proteinactinin alpha 4
SynonymsASCR|AltPrP|CD230|CJD|GSS|KURU|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|p27-30ACTININ-4|FSGS|FSGS1
Cytomap

20p13

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionmajor prion proteinalternative prion proteinCD230 antigenprion-related proteinalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4
Modification date2018052220180522
UniProtAcc

P04156

O43707

Ensembl transtripts involved in fusion geneENST00000379440, ENST00000430350, 
ENST00000252699, ENST00000424234, 
ENST00000390009, ENST00000497637, 
Fusion gene scores* DoF score5 X 7 X 1=3519 X 14 X 7=1862
# samples 720
** MAII scorelog2(7/35*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/1862*10)=-3.21878116778407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRNP [Title/Abstract] AND ACTN4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

TgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

TgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI039284PRNPchr20

4680282

+ACTN4chr19

39217744

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5CDS-intronENST00000379440ENST00000252699PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000379440ENST00000424234PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000379440ENST00000390009PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000379440ENST00000497637PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000430350ENST00000252699PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000430350ENST00000424234PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000430350ENST00000390009PRNPchr20

4680282

+ACTN4chr19

39217744

-
5CDS-intronENST00000430350ENST00000497637PRNPchr20

4680282

+ACTN4chr19

39217744

-

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FusionProtFeatures for PRNP_ACTN4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRNP

P04156

ACTN4

O43707

F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein (Probable). Probably involved in vesicular trafficking viaits association with the CART complex. The CART complex isnecessary for efficient transferrin receptor recycling but not forEGFR degradation (PubMed:15772161). Involved in tight junctionassembly in epithelial cells probably through interaction withMICALL2. Links MICALL2 to the actin cytoskeleton and recruits itto the tight junctions (By similarity). May also function as atranscriptional coactivator, stimulating transcription mediated bythe nuclear hormone receptors PPARG and RARA (PubMed:22351778).{ECO:0000250|UniProtKB:P57780, ECO:0000269|PubMed:15772161,ECO:0000269|PubMed:22351778, ECO:0000305|PubMed:9508771}.

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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FusionGeneSequence for PRNP_ACTN4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PRNP_ACTN4


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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RelatedDrugs for PRNP_ACTN4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePRNPP04156DB00759TetracyclineMajor prion proteinsmall moleculeapproved|vet_approved

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RelatedDiseases for PRNP_ACTN4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRNPC0017495Gerstmann-Straussler-Scheinker Disease13CTD_human;ORPHANET;UNIPROT
HgenePRNPC0022336Creutzfeldt-Jakob disease11CTD_human;ORPHANET;UNIPROT
HgenePRNPC0036457Scrapie4CTD_human
HgenePRNPC0162534Prion Diseases4CTD_human
HgenePRNPC0206042Fatal Familial Insomnia4CTD_human;ORPHANET;UNIPROT
HgenePRNPC1847650SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES3CTD_human;UNIPROT
HgenePRNPC0002395Alzheimer's Disease1CTD_human
HgenePRNPC0011581Depressive disorder1HPO;PSYGENET
HgenePRNPC0019202Hepatolenticular Degeneration1CTD_human
HgenePRNPC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePRNPC0027540Necrosis1CTD_human
HgenePRNPC0027627Neoplasm Metastasis1CTD_human
HgenePRNPC0027659Neoplasms, Experimental1CTD_human
HgenePRNPC0033578Prostatic Neoplasms1CTD_human
HgenePRNPC0038356Stomach Neoplasms1CTD_human
HgenePRNPC0525045Mood Disorders1PSYGENET
HgenePRNPC0751778Myoclonic Epilepsies, Progressive1CTD_human
HgenePRNPC2362914clinical depression1PSYGENET
TgeneACTN4C0333497Segmental glomerulosclerosis3UNIPROT
TgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human