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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:DHRSX-APP (FusionGDB2 ID:HG207063TG351)

Fusion Gene Summary for DHRSX-APP

check button Fusion gene summary
Fusion gene informationFusion gene name: DHRSX-APP
Fusion gene ID: hg207063tg351
HgeneTgene
Gene symbol

DHRSX

APP

Gene ID

207063

351

Gene namedehydrogenase/reductase X-linkedamyloid beta precursor protein
SynonymsCXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY|SDR46C1|SDR7C6AAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4
Cytomap('DHRSX')('APP')

Xp22.33 and Yp11.2

21q21.3

Type of geneprotein-codingprotein-coding
Descriptiondehydrogenase/reductase SDR family member on chromosome Xdehydrogenase/reductase (SDR family) X chromosomedehydrogenase/reductase (SDR family) X-linkeddehydrogenase/reductase (SDR family) Y-linkedshort chain dehydrogenase/reductase family 46C member 1amyloid-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..
Ensembl transtripts involved in fusion geneENST00000334651, ENST00000464935, 
Fusion gene scores* DoF score20 X 27 X 10=540025 X 18 X 10=4500
# samples 3027
** MAII scorelog2(30/5400*10)=-4.16992500144231
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: DHRSX [Title/Abstract] AND APP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDHRSX(2157817)-APP(27253117), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 button Fusion gene information
* 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


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Fusion Gene ORF analysis for DHRSX-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

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 DHRSX-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)


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Fusion Protein Features for DHRSX-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/:2157817/:27253117)
- 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
..
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: 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}.

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 DHRSX-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 DHRSX-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 DHRSX-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 DHRSX-APP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0002395Alzheimer's Disease63CTD_human;UNIPROT
TgeneC0011265Presenile dementia35CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)35CTD_human
TgeneC0494463Alzheimer Disease, Late Onset35CTD_human
TgeneC0546126Acute Confusional Senile Dementia35CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset35CTD_human
TgeneC0750901Alzheimer Disease, Early Onset35CTD_human
TgeneC0025261Memory Disorders16CTD_human
TgeneC0233794Memory impairment16CTD_human
TgeneC0751292Age-Related Memory Disorders16CTD_human
TgeneC0751293Memory Disorder, Semantic16CTD_human
TgeneC0751294Memory Disorder, Spatial16CTD_human
TgeneC0751295Memory Loss16CTD_human
TgeneC0027746Nerve Degeneration11CTD_human
TgeneC0023186Learning Disorders8CTD_human
TgeneC0751262Adult Learning Disorders8CTD_human
TgeneC0751263Learning Disturbance8CTD_human
TgeneC0751265Learning Disabilities8CTD_human
TgeneC1330966Developmental Academic Disorder8CTD_human
TgeneC2751536CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009241Cognition Disorders5CTD_human
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0234544Todd Paralysis5CTD_human
TgeneC0522224Paralysed5CTD_human
TgeneC0497327Dementia3CTD_human;GENOMICS_ENGLAND
TgeneC2931672Cerebral hemorrhage with amyloidosis, hereditary, Dutch type3CTD_human;ORPHANET
TgeneC0270715Degenerative Diseases, Central Nervous System2CTD_human
TgeneC0333463Senile Plaques2CTD_human
TgeneC0524851Neurodegenerative Disorders2CTD_human
TgeneC0600467Neurogenic Inflammation2CTD_human
TgeneC0751733Degenerative Diseases, Spinal Cord2CTD_human
TgeneC2751494CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT2CTD_human
TgeneC2936349Plaque, Amyloid2CTD_human
TgeneC3888307CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT2CTD_human
TgeneC3888308CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT2CTD_human
TgeneC3888309CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT2CTD_human
TgeneC0002622Amnesia1CTD_human
TgeneC0002726Amyloidosis1CTD_human
TgeneC0003469Anxiety Disorders1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0006111Brain Diseases1CTD_human
TgeneC0011573Endogenous depression1PSYGENET
TgeneC0016667Fragile X Syndrome1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0037928Spinal Cord Diseases1CTD_human
TgeneC0038002Splenomegaly1CTD_human
TgeneC0038454Cerebrovascular accident1GENOMICS_ENGLAND
TgeneC0043094Weight Gain1CTD_human
TgeneC0085220Cerebral Amyloid Angiopathy1CTD_human
TgeneC0085584Encephalopathies1CTD_human
TgeneC0231341Premature aging syndrome1CTD_human
TgeneC0233750Hysterical amnesia1CTD_human
TgeneC0233796Temporary Amnesia1CTD_human
TgeneC0234985Mental deterioration1CTD_human
TgeneC0236795Dissociative Amnesia1CTD_human
TgeneC0262497Global Amnesia1CTD_human
TgeneC0270612Leukoencephalopathy1GENOMICS_ENGLAND
TgeneC0338582Sporadic Cerebral Amyloid Angiopathy1CTD_human
TgeneC0338630Senile Paranoid Dementia1CTD_human
TgeneC0338656Impaired cognition1CTD_human
TgeneC0376280Anxiety States, Neurotic1CTD_human
TgeneC0553692Brain hemorrhage1GENOMICS_ENGLAND
TgeneC0750906Tactile Amnesia1CTD_human
TgeneC0750907Amnestic State1CTD_human
TgeneC0751071Familial Dementia1CTD_human
TgeneC0751156FRAXA Syndrome1CTD_human
TgeneC0751157FRAXE Syndrome1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0948008Ischemic stroke1GENOMICS_ENGLAND
TgeneC1270972Mild cognitive disorder1CTD_human
TgeneC1279420Anxiety neurosis (finding)1CTD_human