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Fusion gene ID: 2266 |
FusionGeneSummary for APP_PDLIM3 |
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Fusion gene information | Fusion gene name: APP_PDLIM3 | Fusion gene ID: 2266 | Hgene | Tgene | Gene symbol | APP | PDLIM3 | Gene ID | 351 | 27295 |
Gene name | amyloid beta precursor protein | PDZ and LIM domain 3 | |
Synonyms | AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4 | ALP | |
Cytomap | 21q21.3 | 4q35.1 | |
Type of gene | protein-coding | protein-coding | |
Description | amyloid-beta A4 proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteincereb | PDZ and LIM domain protein 3alpha-actinin-2-associated LIM proteinenigma homolog | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | P05067 | Q53GG5 | |
Ensembl transtripts involved in fusion gene | ENST00000346798, ENST00000354192, ENST00000348990, ENST00000357903, ENST00000358918, ENST00000359726, ENST00000448388, ENST00000440126, ENST00000439274, ENST00000474136, | ENST00000284770, ENST00000284771, ENST00000284767, | |
Fusion gene scores | * DoF score | 15 X 15 X 9=2025 | 4 X 3 X 4=48 |
# samples | 19 | 4 | |
** MAII score | log2(19/2025*10)=-3.4138505843284 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: APP [Title/Abstract] AND PDLIM3 [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 | APP | GO:0001934 | positive regulation of protein phosphorylation | 11404397 |
Hgene | APP | GO:0008285 | negative regulation of cell proliferation | 22944668 |
![]() (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 | Z17821 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
* 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 |
intron-intron | ENST00000346798 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000346798 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000346798 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000354192 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000354192 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000354192 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000348990 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000348990 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000348990 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000357903 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000357903 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000357903 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000358918 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000358918 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000358918 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000359726 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000359726 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000359726 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000448388 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000448388 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000448388 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000440126 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000440126 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000440126 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000439274 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000439274 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000439274 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000474136 | ENST00000284770 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000474136 | ENST00000284771 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
intron-intron | ENST00000474136 | ENST00000284767 | APP | chr21 | 27541655 | + | PDLIM3 | chr4 | 186436303 | + |
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FusionProtFeatures for APP_PDLIM3 |
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Hgene | Tgene |
APP | PDLIM3 |
May play a role in the organization of actin filamentarrays within muscle cells. {ECO:0000250}. |
![]() * 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 APP_PDLIM3 |
![]() (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 APP_PDLIM3 |
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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 APP_PDLIM3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | APP | P05067 | DB06782 | Dimercaprol | Amyloid-beta A4 protein | small molecule | approved |
Hgene | APP | P05067 | DB09148 | Florbetaben (18F) | Amyloid-beta A4 protein | small molecule | approved |
Hgene | APP | P05067 | DB00746 | Deferoxamine | Amyloid-beta A4 protein | small molecule | approved|investigational |
Hgene | APP | P05067 | DB01370 | Aluminium | Amyloid-beta A4 protein | small molecule | approved|investigational |
Hgene | APP | P05067 | DB01593 | Zinc | Amyloid-beta A4 protein | small molecule | approved|investigational |
Hgene | APP | P05067 | DB09149 | Florbetapir (18F) | Amyloid-beta A4 protein | small molecule | approved|investigational |
Hgene | APP | P05067 | DB09151 | Flutemetamol (18F) | Amyloid-beta A4 protein | small molecule | approved|investigational |
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RelatedDiseases for APP_PDLIM3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | APP | C0002395 | Alzheimer's Disease | 55 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | APP | C0025261 | Memory Disorders | 12 | CTD_human |
Hgene | APP | C0027746 | Nerve Degeneration | 11 | CTD_human |
Hgene | APP | C0023186 | Learning Disorders | 6 | CTD_human |
Hgene | APP | C0011570 | Mental Depression | 5 | PSYGENET |
Hgene | APP | C0011581 | Depressive disorder | 5 | PSYGENET |
Hgene | APP | C2751536 | CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED | 5 | ORPHANET;UNIPROT |
Hgene | APP | C0009241 | Cognition Disorders | 4 | CTD_human |
Hgene | APP | C0522224 | Paralysed | 4 | CTD_human |
Hgene | APP | C0524851 | Neurodegenerative Disorders | 2 | CTD_human |
Hgene | APP | C0600467 | Neurogenic Inflammation | 2 | CTD_human |
Hgene | APP | C2931672 | Cerebral hemorrhage with amyloidosis, hereditary, Dutch type | 2 | CTD_human;ORPHANET |
Hgene | APP | C0002622 | Amnesia | 1 | CTD_human |
Hgene | APP | C0002726 | Amyloidosis | 1 | CTD_human |
Hgene | APP | C0003469 | Anxiety Disorders | 1 | CTD_human |
Hgene | APP | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | APP | C0006111 | Brain Diseases | 1 | CTD_human |
Hgene | APP | C0011573 | Endogenous depression | 1 | PSYGENET |
Hgene | APP | C0016667 | Fragile X Syndrome | 1 | CTD_human |
Hgene | APP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | APP | C0027540 | Necrosis | 1 | CTD_human |
Hgene | APP | C0037928 | Spinal Cord Diseases | 1 | CTD_human |
Hgene | APP | C0038002 | Splenomegaly | 1 | CTD_human |
Hgene | APP | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | APP | C0085220 | Cerebral Amyloid Angiopathy | 1 | CTD_human;HPO |
Hgene | APP | C0231341 | Premature aging syndrome | 1 | CTD_human |
Hgene | APP | C0338656 | Impaired cognition | 1 | CTD_human |
Hgene | APP | C0497327 | Dementia | 1 | CTD_human;HPO |
Hgene | APP | C2936349 | Plaque, Amyloid | 1 | CTD_human |