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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:ADK-SIRT1 (FusionGDB2 ID:2597)

Fusion Gene Summary for ADK-SIRT1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADK-SIRT1
Fusion gene ID: 2597
HgeneTgene
Gene symbol

ADK

SIRT1

Gene ID

132

23411

Gene nameadenosine kinasesirtuin 1
SynonymsAKSIR2|SIR2L1|SIR2alpha
Cytomap

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..
Ensembl transtripts involved in fusion geneENST00000539909, ENST00000286621, 
ENST00000372734, ENST00000541550, 
ENST00000467840, 		ENST00000212015, 
ENST00000497639, ENST00000432464, 
ENST00000406900, ENST00000403579, 
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 tumor suppressor 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 epigenetic 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
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 buttonFusion gene breakpoints across ADK (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 SIRT1 (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
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
Frame-shiftENST00000539909ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000539909ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
Frame-shiftENST00000286621ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
5CDS-intronENST00000286621ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000372734ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000372734ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000541550ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000541550ENST00000403579ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-3CDSENST00000467840ENST00000212015ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000497639ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000432464ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000406900ADKchr10

75911101

-SIRT1chr10

69676022

+
intron-intronENST00000467840ENST00000403579ADKchr10

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)

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 ADK-SIRT1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

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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
TgeneSIRT1C0015695Fatty Liver5CTD_human
TgeneSIRT1C0021655Insulin Resistance5CTD_human
TgeneSIRT1C0920563Insulin Sensitivity5CTD_human
TgeneSIRT1C2711227Steatohepatitis5CTD_human
TgeneSIRT1C0009319Colitis3CTD_human
TgeneSIRT1C0002152Alloxan Diabetes2CTD_human
TgeneSIRT1C0005586Bipolar Disorder2PSYGENET
TgeneSIRT1C0011853Diabetes Mellitus, Experimental2CTD_human
TgeneSIRT1C0036341Schizophrenia2PSYGENET
TgeneSIRT1C0038433Streptozotocin Diabetes2CTD_human
TgeneSIRT1C0270715Degenerative Diseases, Central Nervous System2CTD_human
TgeneSIRT1C0524851Neurodegenerative Disorders2CTD_human
TgeneSIRT1C0525045Mood Disorders2PSYGENET
TgeneSIRT1C0751733Degenerative Diseases, Spinal Cord2CTD_human
TgeneSIRT1C0004153Atherosclerosis1CTD_human
TgeneSIRT1C0004238Atrial Fibrillation1CTD_human
TgeneSIRT1C0004364Autoimmune Diseases1CTD_human
TgeneSIRT1C0006118Brain Neoplasms1CTD_human
TgeneSIRT1C0006142Malignant neoplasm of breast1CTD_human
TgeneSIRT1C0011303Demyelinating Diseases1CTD_human
TgeneSIRT1C0011304Demyelination1CTD_human
TgeneSIRT1C0011849Diabetes Mellitus1CTD_human
TgeneSIRT1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneSIRT1C0011884Diabetic Retinopathy1CTD_human
TgeneSIRT1C0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneSIRT1C0016059Fibrosis1CTD_human
TgeneSIRT1C0018799Heart Diseases1CTD_human
TgeneSIRT1C0018801Heart failure1CTD_human
TgeneSIRT1C0018802Congestive heart failure1CTD_human
TgeneSIRT1C0019693HIV Infections1CTD_human
TgeneSIRT1C0020564Hypertrophy1CTD_human
TgeneSIRT1C0022660Kidney Failure, Acute1CTD_human
TgeneSIRT1C0023212Left-Sided Heart Failure1CTD_human
TgeneSIRT1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSIRT1C0027055Myocardial Reperfusion Injury1CTD_human
TgeneSIRT1C0027627Neoplasm Metastasis1CTD_human
TgeneSIRT1C0027746Nerve Degeneration1CTD_human
TgeneSIRT1C0028754Obesity1CTD_human
TgeneSIRT1C0029463Osteosarcoma1CTD_human
TgeneSIRT1C0032285Pneumonia1CTD_human
TgeneSIRT1C0032300Lobar Pneumonia1CTD_human
TgeneSIRT1C0033578Prostatic Neoplasms1CTD_human
TgeneSIRT1C0035309Retinal Diseases1CTD_human
TgeneSIRT1C0036421Systemic Scleroderma1CTD_human
TgeneSIRT1C0040053Thrombosis1CTD_human
TgeneSIRT1C0043020Wallerian Degeneration1CTD_human
TgeneSIRT1C0085762Alcohol abuse1PSYGENET
TgeneSIRT1C0087086Thrombus1CTD_human
TgeneSIRT1C0153633Malignant neoplasm of brain1CTD_human
TgeneSIRT1C0155862Streptococcal pneumonia1CTD_human
TgeneSIRT1C0234544Todd Paralysis1CTD_human
TgeneSIRT1C0235480Paroxysmal atrial fibrillation1CTD_human
TgeneSIRT1C0235527Heart Failure, Right-Sided1CTD_human
TgeneSIRT1C0271650Impaired glucose tolerance1CTD_human
TgeneSIRT1C0273115Lung Injury1CTD_human
TgeneSIRT1C0376358Malignant neoplasm of prostate1CTD_human
TgeneSIRT1C0393953Anterior Cerebral Circulation Infarction1CTD_human
TgeneSIRT1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneSIRT1C0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneSIRT1C0522224Paralysed1CTD_human
TgeneSIRT1C0524620Metabolic Syndrome X1CTD_human
TgeneSIRT1C0678222Breast Carcinoma1CTD_human
TgeneSIRT1C0750974Brain Tumor, Primary1CTD_human
TgeneSIRT1C0750977Recurrent Brain Neoplasm1CTD_human
TgeneSIRT1C0750979Primary malignant neoplasm of brain1CTD_human
TgeneSIRT1C0751952Anterior Circulation Brain Infarction1CTD_human
TgeneSIRT1C0751953Brain Infarction, Posterior Circulation1CTD_human
TgeneSIRT1C0751954Venous Infarction, Brain1CTD_human
TgeneSIRT1C0751955Brain Infarction1CTD_human
TgeneSIRT1C0887898Experimental Lung Inflammation1CTD_human
TgeneSIRT1C0919532Genomic Instability1CTD_human
TgeneSIRT1C1257931Mammary Neoplasms, Human1CTD_human
TgeneSIRT1C1458155Mammary Neoplasms1CTD_human
TgeneSIRT1C1527390Neoplasms, Intracranial1CTD_human
TgeneSIRT1C1563937Atherogenesis1CTD_human
TgeneSIRT1C1565662Acute Kidney Insufficiency1CTD_human
TgeneSIRT1C1623038Cirrhosis1CTD_human
TgeneSIRT1C1959583Myocardial Failure1CTD_human
TgeneSIRT1C1961112Heart Decompensation1CTD_human
TgeneSIRT1C2350037Clinically Isolated Syndrome, CNS Demyelinating1CTD_human
TgeneSIRT1C2350344Chronic Lung Injury1CTD_human
TgeneSIRT1C2585653Persistent atrial fibrillation1CTD_human
TgeneSIRT1C2609414Acute kidney injury1CTD_human
TgeneSIRT1C2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human
TgeneSIRT1C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneSIRT1C3468561familial atrial fibrillation1CTD_human
TgeneSIRT1C3714636Pneumonitis1CTD_human
TgeneSIRT1C4505456HIV Coinfection1CTD_human
TgeneSIRT1C4704874Mammary Carcinoma, Human1CTD_human