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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:ADA-HEATR5A (FusionGDB2 ID:1932)

Fusion Gene Summary for ADA-HEATR5A

check button Fusion gene summary
Fusion gene informationFusion gene name: ADA-HEATR5A
Fusion gene ID: 1932
HgeneTgene
Gene symbol

ADA

HEATR5A

Gene ID

100

25938

Gene nameadenosine deaminaseHEAT repeat containing 5A
Synonyms-C14orf125
Cytomap

20q13.12

14q12

Type of geneprotein-codingprotein-coding
Descriptionadenosine deaminaseadenosine aminohydrolaseHEAT repeat-containing protein 5A
Modification date2020031320200313
UniProtAcc

P00813

Q86XA9

Ensembl transtripts involved in fusion geneENST00000372874, ENST00000464097, 
ENST00000537820, 
ENST00000382464, 
ENST00000389961, ENST00000404677, 
ENST00000439348, ENST00000439727, 
ENST00000543095, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 11 X 7=616
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/616*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADA [Title/Abstract] AND HEATR5A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADA(43268799)-HEATR5A(31797345), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneADA

GO:0001666

response to hypoxia

16670267

HgeneADA

GO:0006154

adenosine catabolic process

8894685|16670267

HgeneADA

GO:0033632

regulation of cell-cell adhesion mediated by integrin

11772392

HgeneADA

GO:0042110

T cell activation

7594462

HgeneADA

GO:0046103

inosine biosynthetic process

8894685

HgeneADA

GO:0060169

negative regulation of adenosine receptor signaling pathway

16670267


check buttonFusion gene breakpoints across ADA (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 HEATR5A (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
ChiTaRS5.0N/AEC516785ADAchr20

43268799

-HEATR5Achr14

31797345

+


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Fusion Gene ORF analysis for ADA-HEATR5A

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
intron-intronENST00000372874ENST00000382464ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000372874ENST00000389961ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000372874ENST00000404677ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000372874ENST00000439348ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000372874ENST00000439727ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000372874ENST00000543095ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000382464ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000389961ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000404677ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000439348ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000439727ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000464097ENST00000543095ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000382464ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000389961ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000404677ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000439348ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000439727ADAchr20

43268799

-HEATR5Achr14

31797345

+
intron-intronENST00000537820ENST00000543095ADAchr20

43268799

-HEATR5Achr14

31797345

+

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 ADA-HEATR5A


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 ADA-HEATR5A


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/:43268799/:31797345)
- 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
ADA

P00813

HEATR5A

Q86XA9

FUNCTION: Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine (PubMed:8452534, PubMed:16670267). Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4 (PubMed:20959412). Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion (PubMed:11772392). Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation (PubMed:20959412). Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change (PubMed:23193172). Stimulates plasminogen activation (PubMed:15016824). Plays a role in male fertility (PubMed:21919946, PubMed:26166670). Plays a protective role in early postimplantation embryonic development (By similarity). {ECO:0000250|UniProtKB:P03958, ECO:0000250|UniProtKB:P56658, ECO:0000269|PubMed:11772392, ECO:0000269|PubMed:15016824, ECO:0000269|PubMed:16670267, ECO:0000269|PubMed:20959412, ECO:0000269|PubMed:21919946, ECO:0000269|PubMed:23193172, ECO:0000269|PubMed:26166670, ECO:0000269|PubMed:8452534}.

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 ADA-HEATR5A


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 ADA-HEATR5A


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 ADA-HEATR5A


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 ADA-HEATR5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource