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Center for Computational Systems Medicine
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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:ZNF431-APP (FusionGDB2 ID:102085)

Fusion Gene Summary for ZNF431-APP

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF431-APP
Fusion gene ID: 102085
HgeneTgene
Gene symbol

ZNF431

APP

Gene ID

170959

351

Gene namezinc finger protein 431amyloid beta precursor protein
Synonyms-AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4
Cytomap

19p12

21q21.3

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 431amyloid-beta precursor 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 protei
Modification date2020031320200329
UniProtAcc.

Q8NEU8

Ensembl transtripts involved in fusion geneENST00000311048, ENST00000599296, 
ENST00000600692, ENST00000594425, 
ENST00000594821, 		ENST00000440126, 
ENST00000448388, ENST00000474136, 
ENST00000348990, ENST00000354192, 
ENST00000357903, ENST00000358918, 
ENST00000359726, ENST00000439274, 
ENST00000346798, 
Fusion gene scores* DoF score6 X 3 X 5=9025 X 18 X 10=4500
# samples 627
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/4500*10)=-4.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF431 [Title/Abstract] AND APP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF431(21350469)-APP(27484463), # samples:1
Anticipated loss of major functional domain due to fusion event.ZNF431-APP seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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

TgeneAPP

GO:1905606

regulation of presynapse assembly

19726636


check buttonFusion gene breakpoints across ZNF431 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across APP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-D7-6519ZNF431chr19

21350469

+APPchr21

27484463

-


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Fusion Gene ORF analysis for ZNF431-APP

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-5UTRENST00000311048ENST00000440126ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000311048ENST00000448388ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000311048ENST00000474136ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000599296ENST00000440126ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000599296ENST00000448388ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000599296ENST00000474136ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000600692ENST00000440126ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000600692ENST00000448388ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-5UTRENST00000600692ENST00000474136ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000348990ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000354192ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000357903ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000358918ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000359726ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000311048ENST00000439274ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000348990ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000354192ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000357903ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000358918ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000359726ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000599296ENST00000439274ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000348990ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000354192ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000357903ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000358918ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000359726ZNF431chr19

21350469

+APPchr21

27484463

-
5CDS-intronENST00000600692ENST00000439274ZNF431chr19

21350469

+APPchr21

27484463

-
Frame-shiftENST00000311048ENST00000346798ZNF431chr19

21350469

+APPchr21

27484463

-
Frame-shiftENST00000599296ENST00000346798ZNF431chr19

21350469

+APPchr21

27484463

-
Frame-shiftENST00000600692ENST00000346798ZNF431chr19

21350469

+APPchr21

27484463

-
intron-3CDSENST00000594425ENST00000346798ZNF431chr19

21350469

+APPchr21

27484463

-
intron-3CDSENST00000594821ENST00000346798ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594425ENST00000440126ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594425ENST00000448388ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594425ENST00000474136ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594821ENST00000440126ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594821ENST00000448388ZNF431chr19

21350469

+APPchr21

27484463

-
intron-5UTRENST00000594821ENST00000474136ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000348990ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000354192ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000357903ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000358918ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000359726ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594425ENST00000439274ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000348990ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000354192ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000357903ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000358918ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000359726ZNF431chr19

21350469

+APPchr21

27484463

-
intron-intronENST00000594821ENST00000439274ZNF431chr19

21350469

+APPchr21

27484463

-

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 ZNF431-APP


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ZNF431-APP


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/:21350469/:27484463)
- 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
.APP

Q8NEU8

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: Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:26583432, PubMed:15016378, PubMed:24879834). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting ans insulin signaling pathways and adaptative thermogenesis (PubMed:24879834) (By similarity). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negativeliy regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (PubMed:24879834). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (PubMed:19433865) (By similarity). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity). {ECO:0000250|UniProtKB:Q8K3G9, ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:19433865, ECO:0000269|PubMed:24879834, ECO:0000269|PubMed:26583432}.

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 ZNF431-APP


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 ZNF431-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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Related Drugs for ZNF431-APP


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 ZNF431-APP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource