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Fusion gene ID: 28831 |
FusionGeneSummary for PRNP_ACTN4 |
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Fusion gene information | Fusion gene name: PRNP_ACTN4 | Fusion gene ID: 28831 | Hgene | Tgene | Gene symbol | PRNP | ACTN4 | Gene ID | 5621 | 81 |
Gene name | prion protein | actinin alpha 4 | |
Synonyms | ASCR|AltPrP|CD230|CJD|GSS|KURU|PRIP|PrP|PrP27-30|PrP33-35C|PrPc|p27-30 | ACTININ-4|FSGS|FSGS1 | |
Cytomap | 20p13 | 19q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | major prion proteinalternative prion proteinCD230 antigenprion-related protein | alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4 | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P04156 | O43707 | |
Ensembl transtripts involved in fusion gene | ENST00000379440, ENST00000430350, | ENST00000252699, ENST00000424234, ENST00000390009, ENST00000497637, | |
Fusion gene scores | * DoF score | 5 X 7 X 1=35 | 19 X 14 X 7=1862 |
# samples | 7 | 20 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PRNP | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 22820466 |
Hgene | PRNP | GO:0071280 | cellular response to copper ion | 16254249 |
Tgene | ACTN4 | GO:0035357 | peroxisome proliferator activated receptor signaling pathway | 22351778 |
Tgene | ACTN4 | GO:0048384 | retinoic acid receptor signaling pathway | 22351778 |
Tgene | ACTN4 | GO:0051272 | positive regulation of cellular component movement | 9508771 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BI039284 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000379440 | ENST00000252699 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000379440 | ENST00000424234 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000379440 | ENST00000390009 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000379440 | ENST00000497637 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000430350 | ENST00000252699 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000430350 | ENST00000424234 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000430350 | ENST00000390009 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
5CDS-intron | ENST00000430350 | ENST00000497637 | PRNP | chr20 | 4680282 | + | ACTN4 | chr19 | 39217744 | - |
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FusionProtFeatures for PRNP_ACTN4 |
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Hgene | Tgene |
PRNP | ACTN4 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PRNP_ACTN4 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PRNP_ACTN4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | PRNP | P04156 | DB00759 | Tetracycline | Major prion protein | small molecule | approved|vet_approved |
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RelatedDiseases for PRNP_ACTN4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PRNP | C0017495 | Gerstmann-Straussler-Scheinker Disease | 13 | CTD_human;ORPHANET;UNIPROT |
Hgene | PRNP | C0022336 | Creutzfeldt-Jakob disease | 11 | CTD_human;ORPHANET;UNIPROT |
Hgene | PRNP | C0036457 | Scrapie | 4 | CTD_human |
Hgene | PRNP | C0162534 | Prion Diseases | 4 | CTD_human |
Hgene | PRNP | C0206042 | Fatal Familial Insomnia | 4 | CTD_human;ORPHANET;UNIPROT |
Hgene | PRNP | C1847650 | SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES | 3 | CTD_human;UNIPROT |
Hgene | PRNP | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | PRNP | C0011581 | Depressive disorder | 1 | HPO;PSYGENET |
Hgene | PRNP | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
Hgene | PRNP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | PRNP | C0027540 | Necrosis | 1 | CTD_human |
Hgene | PRNP | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | PRNP | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | PRNP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | PRNP | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | PRNP | C0525045 | Mood Disorders | 1 | PSYGENET |
Hgene | PRNP | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human |
Hgene | PRNP | C2362914 | clinical depression | 1 | PSYGENET |
Tgene | ACTN4 | C0333497 | Segmental glomerulosclerosis | 3 | UNIPROT |
Tgene | ACTN4 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | ACTN4 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |