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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: 3417

FusionGeneSummary for ATP5J_APP

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP5J_APP
Fusion gene ID: 3417
HgeneTgene
Gene symbol

ATP5J

APP

Gene ID

351

Gene nameamyloid beta precursor protein
SynonymsAAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4
Cytomap

21q21.3

Type of geneprotein-coding
Descriptionamyloid-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
Modification date20180527
UniProtAcc

P18859

P05067

Ensembl transtripts involved in fusion geneENST00000400099, ENST00000400094, 
ENST00000284971, ENST00000457143, 
ENST00000400090, ENST00000400087, 
ENST00000400093, 		ENST00000346798, 
ENST00000354192, ENST00000348990, 
ENST00000357903, ENST00000358918, 
ENST00000359726, ENST00000448388, 
ENST00000440126, ENST00000439274, 
ENST00000474136, 
Fusion gene scores* DoF score3 X 3 X 2=1816 X 17 X 6=1632
# samples 320
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(20/1632*10)=-3.02856915219677
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP5J [Title/Abstract] AND APP [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
TgeneAPP

GO:0001934

positive regulation of protein phosphorylation

11404397

TgeneAPP

GO:0008285

negative regulation of cell proliferation

22944668


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
ChiTaRS3.1DA242038ATP5Jchr21

27107384

+APPchr21

27484464

-
* 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
intron-3CDSENST00000400099ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400099ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400099ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400099ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400099ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000400094ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400094ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400094ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400094ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400094ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000284971ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000284971ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000284971ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000284971ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000284971ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000457143ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000457143ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000457143ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000457143ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000457143ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000400090ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400090ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400090ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400090ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400090ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000400087ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400087ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400087ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400087ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400087ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-3CDSENST00000400093ENST00000346798ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000354192ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000348990ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000357903ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000358918ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000359726ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400093ENST00000448388ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400093ENST00000440126ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-intronENST00000400093ENST00000439274ATP5Jchr21

27107384

+APPchr21

27484464

-
intron-5UTRENST00000400093ENST00000474136ATP5Jchr21

27107384

+APPchr21

27484464

-

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FusionProtFeatures for ATP5J_APP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP5J

P18859

APP

P05067

Mitochondrial membrane ATP synthase (F(1)F(0) ATPsynthase or Complex V) produces ATP from ADP in the presence of aproton gradient across the membrane which is generated by electrontransport complexes of the respiratory chain. F-type ATPasesconsist of two structural domains, F(1) - containing theextramembraneous catalytic core and F(0) - containing the membraneproton channel, linked together by a central stalk and aperipheral stalk. During catalysis, ATP synthesis in the catalyticdomain of F(1) is coupled via a rotary mechanism of the centralstalk subunits to proton translocation. Part of the complex F(0)domain and the peripheric stalk, which acts as a stator to holdthe catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 staticrelative to the rotary elements. Also involved in the restorationof oligomycin-sensitive ATPase activity to depleted F1-F0complexes.

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 ATP5J_APP


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 ATP5J_APP


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 ATP5J_APP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAPPP05067DB06782DimercaprolAmyloid-beta A4 proteinsmall moleculeapproved
TgeneAPPP05067DB09148Florbetaben (18F)Amyloid-beta A4 proteinsmall moleculeapproved
TgeneAPPP05067DB00746DeferoxamineAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB01370AluminiumAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB01593ZincAmyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB09149Florbetapir (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational
TgeneAPPP05067DB09151Flutemetamol (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational

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RelatedDiseases for ATP5J_APP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAPPC0002395Alzheimer's Disease55CTD_human;HPO;ORPHANET;UNIPROT
TgeneAPPC0025261Memory Disorders12CTD_human
TgeneAPPC0027746Nerve Degeneration11CTD_human
TgeneAPPC0023186Learning Disorders6CTD_human
TgeneAPPC0011570Mental Depression5PSYGENET
TgeneAPPC0011581Depressive disorder5PSYGENET
TgeneAPPC2751536CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED5ORPHANET;UNIPROT
TgeneAPPC0009241Cognition Disorders4CTD_human
TgeneAPPC0522224Paralysed4CTD_human
TgeneAPPC0524851Neurodegenerative Disorders2CTD_human
TgeneAPPC0600467Neurogenic Inflammation2CTD_human
TgeneAPPC2931672Cerebral hemorrhage with amyloidosis, hereditary, Dutch type2CTD_human;ORPHANET
TgeneAPPC0002622Amnesia1CTD_human
TgeneAPPC0002726Amyloidosis1CTD_human
TgeneAPPC0003469Anxiety Disorders1CTD_human
TgeneAPPC0005586Bipolar Disorder1PSYGENET
TgeneAPPC0006111Brain Diseases1CTD_human
TgeneAPPC0011573Endogenous depression1PSYGENET
TgeneAPPC0016667Fragile X Syndrome1CTD_human
TgeneAPPC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAPPC0027540Necrosis1CTD_human
TgeneAPPC0037928Spinal Cord Diseases1CTD_human
TgeneAPPC0038002Splenomegaly1CTD_human
TgeneAPPC0043094Weight Gain1CTD_human
TgeneAPPC0085220Cerebral Amyloid Angiopathy1CTD_human;HPO
TgeneAPPC0231341Premature aging syndrome1CTD_human
TgeneAPPC0338656Impaired cognition1CTD_human
TgeneAPPC0497327Dementia1CTD_human;HPO
TgeneAPPC2936349Plaque, Amyloid1CTD_human