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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:ADK-SIRT1 (FusionGDB2 ID:HG132TG23411)

Fusion Gene Summary for ADK-SIRT1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADK-SIRT1
Fusion gene ID: hg132tg23411
HgeneTgene
Gene symbol

ADK

SIRT1

Gene ID

132

23411

Gene nameadenosine kinasesirtuin 1
SynonymsAKSIR2|SIR2L1|SIR2alpha
Cytomap('ADK')('SIRT1')

10q22.2|10q11-q24

10q21.3

Type of geneprotein-codingprotein-coding
Descriptionadenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14NAD-dependent protein deacetylase sirtuin-1SIR2-like protein 1regulatory protein SIR2 homolog 1sirtuin type 1
Modification date2020031320200329
UniProtAcc

P55263

.
Ensembl transtripts involved in fusion geneENST00000286621, ENST00000539909, 
ENST00000372734, ENST00000467840, 
ENST00000541550, 
Fusion gene scores* DoF score19 X 13 X 10=24701 X 1 X 1=1
# samples 261
** MAII scorelog2(26/2470*10)=-3.24792751344359
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: ADK [Title/Abstract] AND SIRT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADK(75911101)-SIRT1(69676022), # samples:1
Anticipated loss of major functional domain due to fusion event.ADK-SIRT1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ADK-SIRT1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ADK-SIRT1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ADK-SIRT1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ADK-SIRT1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneSIRT1

GO:0000122

negative regulation of transcription by RNA polymerase II

12535671|15692560|20955178

TgeneSIRT1

GO:0000183

chromatin silencing at rDNA

18485871

TgeneSIRT1

GO:0001525

angiogenesis

20620956

TgeneSIRT1

GO:0002821

positive regulation of adaptive immune response

21890893

TgeneSIRT1

GO:0006343

establishment of chromatin silencing

15469825

TgeneSIRT1

GO:0006476

protein deacetylation

18203716|18662546|20027304|20955178

TgeneSIRT1

GO:0006974

cellular response to DNA damage stimulus

18203716

TgeneSIRT1

GO:0006979

response to oxidative stress

14976264

TgeneSIRT1

GO:0007179

transforming growth factor beta receptor signaling pathway

23960241

TgeneSIRT1

GO:0007346

regulation of mitotic cell cycle

15692560

TgeneSIRT1

GO:0016239

positive regulation of macroautophagy

18296641

TgeneSIRT1

GO:0016567

protein ubiquitination

21841822

TgeneSIRT1

GO:0016575

histone deacetylation

12006491|15469825|16079181|17172643

TgeneSIRT1

GO:0031648

protein destabilization

20955178

TgeneSIRT1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

15152190

TgeneSIRT1

GO:0034983

peptidyl-lysine deacetylation

15469825

TgeneSIRT1

GO:0042542

response to hydrogen peroxide

19934257

TgeneSIRT1

GO:0043065

positive regulation of apoptotic process

15152190

TgeneSIRT1

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

17680780

TgeneSIRT1

GO:0043433

negative regulation of DNA-binding transcription factor activity

11672523|20955178

TgeneSIRT1

GO:0043518

negative regulation of DNA damage response, signal transduction by p53 class mediator

11672523

TgeneSIRT1

GO:0043536

positive regulation of blood vessel endothelial cell migration

23960241

TgeneSIRT1

GO:0045348

positive regulation of MHC class II biosynthetic process

21890893

TgeneSIRT1

GO:0045722

positive regulation of gluconeogenesis

30193097

TgeneSIRT1

GO:0045766

positive regulation of angiogenesis

23960241|25217442

TgeneSIRT1

GO:0045892

negative regulation of transcription, DNA-templated

11672523|20074560

TgeneSIRT1

GO:0045944

positive regulation of transcription by RNA polymerase II

12837246|21807113

TgeneSIRT1

GO:0046628

positive regulation of insulin receptor signaling pathway

21241768

TgeneSIRT1

GO:0051097

negative regulation of helicase activity

18203716

TgeneSIRT1

GO:0070301

cellular response to hydrogen peroxide

20027304

TgeneSIRT1

GO:0070932

histone H3 deacetylation

20027304

TgeneSIRT1

GO:0071356

cellular response to tumor necrosis factor

15152190

TgeneSIRT1

GO:2000480

negative regulation of cAMP-dependent protein kinase activity

20203304

TgeneSIRT1

GO:2000757

negative regulation of peptidyl-lysine acetylation

20100829

TgeneSIRT1

GO:2000773

negative regulation of cellular senescence

20203304

TgeneSIRT1

GO:2000774

positive regulation of cellular senescence

18687677



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
ChimerDB4KIRPTCGA-P4-AAVO-01AADKchr10

75911101

-SIRT1chr10

69676022

+


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Fusion Gene ORF analysis for ADK-SIRT1

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-intronENST00000286621ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
Frame-shiftENST00000286621ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
Frame-shiftENST00000539909ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000372734ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000467840ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000541550ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+

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 ADK-SIRT1


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 ADK-SIRT1


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/:75911101/:69676022)
- 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
ADK

P55263

.
FUNCTION: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.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 ADK-SIRT1


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 ADK-SIRT1


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 ADK-SIRT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneADKP55263DB00131Adenosine phosphateProduct ofSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for ADK-SIRT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADKC3280381HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADKC0003129Anoxemia1CTD_human
HgeneADKC0003130Anoxia1CTD_human
HgeneADKC0020796Profound Mental Retardation1CTD_human
HgeneADKC0025363Mental Retardation, Psychosocial1CTD_human
HgeneADKC0036341Schizophrenia1PSYGENET
HgeneADKC0242184Hypoxia1CTD_human
HgeneADKC0700292Hypoxemia1CTD_human
HgeneADKC0917816Mental deficiency1CTD_human
HgeneADKC3714756Intellectual Disability1CTD_human
TgeneC0015695Fatty Liver5CTD_human
TgeneC0021655Insulin Resistance5CTD_human
TgeneC0920563Insulin Sensitivity5CTD_human
TgeneC2711227Steatohepatitis5CTD_human
TgeneC0009319Colitis3CTD_human
TgeneC0002152Alloxan Diabetes2CTD_human
TgeneC0005586Bipolar Disorder2PSYGENET
TgeneC0011853Diabetes Mellitus, Experimental2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0038433Streptozotocin Diabetes2CTD_human
TgeneC0270715Degenerative Diseases, Central Nervous System2CTD_human
TgeneC0524851Neurodegenerative Disorders2CTD_human
TgeneC0525045Mood Disorders2PSYGENET
TgeneC0751733Degenerative Diseases, Spinal Cord2CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0011303Demyelinating Diseases1CTD_human
TgeneC0011304Demyelination1CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0011884Diabetic Retinopathy1CTD_human
TgeneC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0020564Hypertrophy1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0029463Osteosarcoma1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0035309Retinal Diseases1CTD_human
TgeneC0036421Systemic Scleroderma1CTD_human
TgeneC0040053Thrombosis1CTD_human
TgeneC0043020Wallerian Degeneration1CTD_human
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0087086Thrombus1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0155862Streptococcal pneumonia1CTD_human
TgeneC0234544Todd Paralysis1CTD_human
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0271650Impaired glucose tolerance1CTD_human
TgeneC0273115Lung Injury1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0393953Anterior Cerebral Circulation Infarction1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0522224Paralysed1CTD_human
TgeneC0524620Metabolic Syndrome X1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC0751952Anterior Circulation Brain Infarction1CTD_human
TgeneC0751953Brain Infarction, Posterior Circulation1CTD_human
TgeneC0751954Venous Infarction, Brain1CTD_human
TgeneC0751955Brain Infarction1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC0919532Genomic Instability1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC1563937Atherogenesis1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human
TgeneC2350344Chronic Lung Injury1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human
TgeneC3714636Pneumonitis1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human