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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:DOT1L-ADORA2A (FusionGDB2 ID:HG84444TG135)

Fusion Gene Summary for DOT1L-ADORA2A

check button Fusion gene summary
Fusion gene informationFusion gene name: DOT1L-ADORA2A
Fusion gene ID: hg84444tg135
HgeneTgene
Gene symbol

DOT1L

ADORA2A

Gene ID

84444

135

Gene nameDOT1 like histone lysine methyltransferaseadenosine A2a receptor
SynonymsDOT1|KMT4A2aR|ADORA2|RDC8
Cytomap('DOT1L')('ADORA2A')

19p13.3

22q11.23

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase, H3 lysine-79 specificDOT1 like histone H3K79 methyltransferaseDOT1-like histone methyltransferaseDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methyladenosine receptor A2aadenosine receptor subtype A2a
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000398665, ENST00000608122, 
Fusion gene scores* DoF score22 X 15 X 12=39602 X 2 X 2=8
# samples 292
** MAII scorelog2(29/3960*10)=-3.77137562495204
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: DOT1L [Title/Abstract] AND ADORA2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOT1L(2194576)-ADORA2A(24836551), # samples:1
Anticipated loss of major functional domain due to fusion event.DOT1L-ADORA2A seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DOT1L-ADORA2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DOT1L-ADORA2A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
DOT1L-ADORA2A seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
DOT1L-ADORA2A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneDOT1L

GO:0008284

positive regulation of cell proliferation

15851025

HgeneDOT1L

GO:0034729

histone H3-K79 methylation

15851025

HgeneDOT1L

GO:0045944

positive regulation of transcription by RNA polymerase II

15851025

HgeneDOT1L

GO:0046425

regulation of JAK-STAT cascade

22002246

TgeneADORA2A

GO:0007189

adenylate cyclase-activating G protein-coupled receptor signaling pathway

21393508



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
ChimerDB4Non-CancerERR315425DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+


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Fusion Gene ORF analysis for DOT1L-ADORA2A

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-3UTRENST00000398665ENST00000496497DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+
Frame-shiftENST00000398665ENST00000337539DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+
intron-3CDSENST00000608122ENST00000337539DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+
intron-3UTRENST00000608122ENST00000496497DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+

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 DOT1L-ADORA2A


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)
DOT1Lchr192194576+ADORA2Achr2224836550+0.0102556120.98974437
DOT1Lchr192194576+ADORA2Achr2224836550+0.0102556120.98974437


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.
genomic feature of top 1%

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Fusion Protein Features for DOT1L-ADORA2A


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/:2194576/:24836551)
- 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 DOT1L-ADORA2A


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 DOT1L-ADORA2A


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 DOT1L-ADORA2A


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 DOT1L-ADORA2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOT1LC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0003469Anxiety Disorders4CTD_human
TgeneC0036341Schizophrenia4PSYGENET
TgeneC0376280Anxiety States, Neurotic4CTD_human
TgeneC1279420Anxiety neurosis (finding)4CTD_human
TgeneC0020649Hypotension3CTD_human
TgeneC0038587Substance Withdrawal Syndrome3CTD_human
TgeneC0086189Drug Withdrawal Symptoms3CTD_human
TgeneC0087169Withdrawal Symptoms3CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011581Depressive disorder1CTD_human
TgeneC0013182Drug Allergy1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0021603Sleep Initiation and Maintenance Disorders1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0026650Movement Disorders1CTD_human
TgeneC0030319Panic Disorder1CTD_human
TgeneC0033139Primary Insomnia1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0033937Psychoses, Drug1CTD_human
TgeneC0033941Psychoses, Substance-Induced1CTD_human
TgeneC0034189Pyemia1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0036572Seizures1CTD_human
TgeneC0036690Septicemia1CTD_human
TgeneC0040822Tremor1CTD_human
TgeneC0040827Saturnine Tremor1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0086769Panic Attacks1CTD_human
TgeneC0149840Senile Tremor1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234370Persistent Tremor1CTD_human
TgeneC0234371Continuous Tremor1CTD_human
TgeneC0234372Intermittent Tremor1CTD_human
TgeneC0234373Fine Tremor1CTD_human
TgeneC0234374Coarse Tremor1CTD_human
TgeneC0234375Massive Tremor1CTD_human
TgeneC0234376Action Tremor1CTD_human
TgeneC0234377Passive Tremor1CTD_human
TgeneC0234378Static Tremor1CTD_human
TgeneC0234379Resting Tremor1CTD_human
TgeneC0234381Darkness Tremor1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0235078Tremor, Perioral1CTD_human
TgeneC0235081Tremor, Limb1CTD_human
TgeneC0235082Tremor, Muscle1CTD_human
TgeneC0235083Nerve Tremors1CTD_human
TgeneC0235843Tremor, Neonatal1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0242973Ventricular Dysfunction1CTD_human
TgeneC0243026Sepsis1CTD_human
TgeneC0266487Etat Marbre1CTD_human
TgeneC0270541Rebound Insomnia1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0349255Nonorganic Insomnia1CTD_human
TgeneC0393759Transient Insomnia1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0541798Early Awakening1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751217Hyperkinesia, Generalized1CTD_human
TgeneC0751249Chronic Insomnia1CTD_human
TgeneC0751250Psychophysiological Insomnia1CTD_human
TgeneC0751251Secondary Insomnia1CTD_human
TgeneC0751252Sleep Initiation Dysfunction1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC0751564Pill Rolling Tremor1CTD_human
TgeneC0751565Tremor, Semirhythmic1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC0917801Sleeplessness1CTD_human
TgeneC1262477Weight decreased1CTD_human
TgeneC1527384Involuntary Quiver1CTD_human
TgeneC1719672Severe Sepsis1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3887506Hyperkinesia1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human
TgeneC4707658Acute encephalopathy with biphasic seizures and late reduced diffusion1ORPHANET