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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:ADORA2B-TTC19 (FusionGDB2 ID:HG136TG54902)

Fusion Gene Summary for ADORA2B-TTC19

check button Fusion gene summary
Fusion gene informationFusion gene name: ADORA2B-TTC19
Fusion gene ID: hg136tg54902
HgeneTgene
Gene symbol

ADORA2B

TTC19

Gene ID

136

54902

Gene nameadenosine A2b receptortetratricopeptide repeat domain 19
SynonymsADORA22010204O13Rik|MC3DN2
Cytomap('ADORA2B')('TTC19')

17p12

17p12

Type of geneprotein-codingprotein-coding
Descriptionadenosine receptor A2btetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19
Modification date2020031320200327
UniProtAcc

P29275

.
Ensembl transtripts involved in fusion geneENST00000304222, 
Fusion gene scores* DoF score4 X 1 X 2=810 X 9 X 5=450
# samples 310
** MAII scorelog2(3/8*10)=1.90689059560852log2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADORA2B [Title/Abstract] AND TTC19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADORA2B(15848897)-TTC19(15905228), # samples:2
Anticipated loss of major functional domain due to fusion event.ADORA2B-TTC19 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ADORA2B-TTC19 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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


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
ChimerDB4ESCATCGA-LN-A49XADORA2Bchr17

15848897

+TTC19chr17

15905228

+


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Fusion Gene ORF analysis for ADORA2B-TTC19

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-3UTRENST00000304222ENST00000497842ADORA2Bchr17

15848897

+TTC19chr17

15905228

+
Frame-shiftENST00000304222ENST00000261647ADORA2Bchr17

15848897

+TTC19chr17

15905228

+
Frame-shiftENST00000304222ENST00000486880ADORA2Bchr17

15848897

+TTC19chr17

15905228

+

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 ADORA2B-TTC19


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)
ADORA2Bchr1715848897+TTC19chr1715905228+5.57E-050.9999443
ADORA2Bchr1715848897+TTC19chr1715905228+5.57E-050.9999443


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 ADORA2B-TTC19


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/:15848897/:15905228)
- 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
ADORA2B

P29275

.
FUNCTION: Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase.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 ADORA2B-TTC19


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 ADORA2B-TTC19


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 ADORA2B-TTC19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneADORA2BP29275DB00201CaffeineAntagonistSmall moleculeApproved
HgeneADORA2BP29275DB00277TheophyllineAntagonistSmall moleculeApproved
HgeneADORA2BP29275DB00824EnprofyllineAntagonistSmall moleculeApproved|Experimental
HgeneADORA2BP29275DB00640AdenosineAgonistSmall moleculeApproved|Investigational
HgeneADORA2BP29275DB04932DefibrotideBiotechApproved|Investigational

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Related Diseases for ADORA2B-TTC19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADORA2BC0027627Neoplasm Metastasis1CTD_human
HgeneADORA2BC0034189Pyemia1CTD_human
HgeneADORA2BC0035126Reperfusion Injury1CTD_human
HgeneADORA2BC0036690Septicemia1CTD_human
HgeneADORA2BC0243026Sepsis1CTD_human
HgeneADORA2BC1719672Severe Sepsis1CTD_human
TgeneC0023264Leigh Disease8CLINGEN
TgeneC1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY8CLINGEN
TgeneC1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency8CLINGEN
TgeneC1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency8CLINGEN
TgeneC1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency8CLINGEN
TgeneC1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency8CLINGEN
TgeneC2931891Necrotizing encephalopathy, infantile subacute, of Leigh8CLINGEN
TgeneC3554605MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 22GENOMICS_ENGLAND
TgeneC0021359Infertility1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0231686Gait, Unsteady1CTD_human
TgeneC0231687Spastic gait1CTD_human
TgeneC0231688Gait, Shuffling1CTD_human
TgeneC0231689Gait, Athetotic1CTD_human
TgeneC0231693Charcot Gait1CTD_human
TgeneC0231694Gait, Festinating1CTD_human
TgeneC0231695Cerebellar ataxic gait1CTD_human
TgeneC0231696Gait, Hemiplegic1CTD_human
TgeneC0231698Gait, Scissors1CTD_human
TgeneC0231712Waddling gait1CTD_human
TgeneC0234996Gait, Rigid1CTD_human
TgeneC0235000Gait, Broadened1CTD_human
TgeneC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneC0337210Gait, Stumbling1CTD_human
TgeneC0427128Rapid Fatigue of Gait1CTD_human
TgeneC0427149Gait, Drop Foot1CTD_human
TgeneC0427169Marche a Petit Pas1CTD_human
TgeneC0427177Gait, Hysterical1CTD_human
TgeneC0524851Neurodegenerative Disorders1CTD_human
TgeneC0729353Subfertility1CTD_human
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneC0751829Gait Disorder, Sensorimotor1CTD_human
TgeneC0751830Gait Disorders, Neurologic1CTD_human
TgeneC0751831Gait, Frontal1CTD_human
TgeneC0751832Gait, Widebased1CTD_human
TgeneC4074771Sterility, Reproductive1CTD_human