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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:DOT1L-ADORA2A (FusionGDB2 ID:23883)

Fusion Gene Summary for DOT1L-ADORA2A

check button Fusion gene summary
Fusion gene informationFusion gene name: DOT1L-ADORA2A
Fusion gene ID: 23883
HgeneTgene
Gene symbol

DOT1L

ADORA2A

Gene ID

84444

135

Gene nameDOT1 like histone lysine methyltransferaseadenosine A2a receptor
SynonymsDOT1|KMT4A2aR|ADORA2|RDC8
Cytomap

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

Q8TEK3

.
Ensembl transtripts involved in fusion geneENST00000398665, ENST00000608122, 
ENST00000337539, ENST00000496497, 
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 transcription 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 epigenetic 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 buttonFusion gene breakpoints across DOT1L (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 ADORA2A (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
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
Frame-shiftENST00000398665ENST00000337539DOT1Lchr19

2194576

+ADORA2Achr22

24836551

+
5CDS-3UTRENST00000398665ENST00000496497DOT1Lchr19

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. 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 DOT1L-ADORA2A


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
DOT1L

Q8TEK3

.
FUNCTION: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190). {ECO:0000269|PubMed:12123582, ECO:0000269|PubMed:12628190}.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 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
TgeneADORA2AC0003469Anxiety Disorders4CTD_human
TgeneADORA2AC0036341Schizophrenia4PSYGENET
TgeneADORA2AC0376280Anxiety States, Neurotic4CTD_human
TgeneADORA2AC1279420Anxiety neurosis (finding)4CTD_human
TgeneADORA2AC0020649Hypotension3CTD_human
TgeneADORA2AC0038587Substance Withdrawal Syndrome3CTD_human
TgeneADORA2AC0086189Drug Withdrawal Symptoms3CTD_human
TgeneADORA2AC0087169Withdrawal Symptoms3CTD_human
TgeneADORA2AC0003873Rheumatoid Arthritis1CTD_human
TgeneADORA2AC0011573Endogenous depression1CTD_human
TgeneADORA2AC0011581Depressive disorder1CTD_human
TgeneADORA2AC0013182Drug Allergy1CTD_human
TgeneADORA2AC0013221Drug toxicity1CTD_human
TgeneADORA2AC0021603Sleep Initiation and Maintenance Disorders1CTD_human
TgeneADORA2AC0022333Jacksonian Seizure1CTD_human
TgeneADORA2AC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneADORA2AC0025193Melancholia1CTD_human
TgeneADORA2AC0026650Movement Disorders1CTD_human
TgeneADORA2AC0030319Panic Disorder1CTD_human
TgeneADORA2AC0033139Primary Insomnia1CTD_human
TgeneADORA2AC0033141Cardiomyopathies, Primary1CTD_human
TgeneADORA2AC0033937Psychoses, Drug1CTD_human
TgeneADORA2AC0033941Psychoses, Substance-Induced1CTD_human
TgeneADORA2AC0034189Pyemia1CTD_human
TgeneADORA2AC0035126Reperfusion Injury1CTD_human
TgeneADORA2AC0036529Myocardial Diseases, Secondary1CTD_human
TgeneADORA2AC0036572Seizures1CTD_human
TgeneADORA2AC0036690Septicemia1CTD_human
TgeneADORA2AC0040822Tremor1CTD_human
TgeneADORA2AC0040827Saturnine Tremor1CTD_human
TgeneADORA2AC0041696Unipolar Depression1CTD_human
TgeneADORA2AC0041755Adverse reaction to drug1CTD_human
TgeneADORA2AC0086133Depressive Syndrome1CTD_human
TgeneADORA2AC0086769Panic Attacks1CTD_human
TgeneADORA2AC0149840Senile Tremor1CTD_human
TgeneADORA2AC0149958Complex partial seizures1CTD_human
TgeneADORA2AC0234370Persistent Tremor1CTD_human
TgeneADORA2AC0234371Continuous Tremor1CTD_human
TgeneADORA2AC0234372Intermittent Tremor1CTD_human
TgeneADORA2AC0234373Fine Tremor1CTD_human
TgeneADORA2AC0234374Coarse Tremor1CTD_human
TgeneADORA2AC0234375Massive Tremor1CTD_human
TgeneADORA2AC0234376Action Tremor1CTD_human
TgeneADORA2AC0234377Passive Tremor1CTD_human
TgeneADORA2AC0234378Static Tremor1CTD_human
TgeneADORA2AC0234379Resting Tremor1CTD_human
TgeneADORA2AC0234381Darkness Tremor1CTD_human
TgeneADORA2AC0234533Generalized seizures1CTD_human
TgeneADORA2AC0234535Clonic Seizures1CTD_human
TgeneADORA2AC0235078Tremor, Perioral1CTD_human
TgeneADORA2AC0235081Tremor, Limb1CTD_human
TgeneADORA2AC0235082Tremor, Muscle1CTD_human
TgeneADORA2AC0235083Nerve Tremors1CTD_human
TgeneADORA2AC0235843Tremor, Neonatal1CTD_human
TgeneADORA2AC0236733Amphetamine-Related Disorders1CTD_human
TgeneADORA2AC0236804Amphetamine Addiction1CTD_human
TgeneADORA2AC0236807Amphetamine Abuse1CTD_human
TgeneADORA2AC0242973Ventricular Dysfunction1CTD_human
TgeneADORA2AC0243026Sepsis1CTD_human
TgeneADORA2AC0266487Etat Marbre1CTD_human
TgeneADORA2AC0270541Rebound Insomnia1CTD_human
TgeneADORA2AC0270824Visual seizure1CTD_human
TgeneADORA2AC0270844Tonic Seizures1CTD_human
TgeneADORA2AC0270846Epileptic drop attack1CTD_human
TgeneADORA2AC0282126Depression, Neurotic1CTD_human
TgeneADORA2AC0349255Nonorganic Insomnia1CTD_human
TgeneADORA2AC0393759Transient Insomnia1CTD_human
TgeneADORA2AC0422850Seizures, Somatosensory1CTD_human
TgeneADORA2AC0422852Seizures, Auditory1CTD_human
TgeneADORA2AC0422853Olfactory seizure1CTD_human
TgeneADORA2AC0422854Gustatory seizure1CTD_human
TgeneADORA2AC0422855Vertiginous seizure1CTD_human
TgeneADORA2AC0494475Tonic - clonic seizures1CTD_human
TgeneADORA2AC0525045Mood Disorders1PSYGENET
TgeneADORA2AC0541798Early Awakening1CTD_human
TgeneADORA2AC0751056Non-epileptic convulsion1CTD_human
TgeneADORA2AC0751110Single Seizure1CTD_human
TgeneADORA2AC0751123Atonic Absence Seizures1CTD_human
TgeneADORA2AC0751217Hyperkinesia, Generalized1CTD_human
TgeneADORA2AC0751249Chronic Insomnia1CTD_human
TgeneADORA2AC0751250Psychophysiological Insomnia1CTD_human
TgeneADORA2AC0751251Secondary Insomnia1CTD_human
TgeneADORA2AC0751252Sleep Initiation Dysfunction1CTD_human
TgeneADORA2AC0751494Convulsive Seizures1CTD_human
TgeneADORA2AC0751495Seizures, Focal1CTD_human
TgeneADORA2AC0751496Seizures, Sensory1CTD_human
TgeneADORA2AC0751564Pill Rolling Tremor1CTD_human
TgeneADORA2AC0751565Tremor, Semirhythmic1CTD_human
TgeneADORA2AC0878544Cardiomyopathies1CTD_human
TgeneADORA2AC0917801Sleeplessness1CTD_human
TgeneADORA2AC1262477Weight decreased1CTD_human
TgeneADORA2AC1527384Involuntary Quiver1CTD_human
TgeneADORA2AC1719672Severe Sepsis1CTD_human
TgeneADORA2AC3495874Nonepileptic Seizures1CTD_human
TgeneADORA2AC3887506Hyperkinesia1CTD_human
TgeneADORA2AC4048158Convulsions1CTD_human
TgeneADORA2AC4316903Absence Seizures1CTD_human
TgeneADORA2AC4317109Epileptic Seizures1CTD_human
TgeneADORA2AC4317123Myoclonic Seizures1CTD_human
TgeneADORA2AC4505436Generalized Absence Seizures1CTD_human
TgeneADORA2AC4707658Acute encephalopathy with biphasic seizures and late reduced diffusion1ORPHANET