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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:BLCAP-ADK (FusionGDB2 ID:HG10904TG132)

Fusion Gene Summary for BLCAP-ADK

check button Fusion gene summary
Fusion gene informationFusion gene name: BLCAP-ADK
Fusion gene ID: hg10904tg132
HgeneTgene
Gene symbol

BLCAP

ADK

Gene ID

10904

132

Gene nameBLCAP apoptosis inducing factoradenosine kinase
SynonymsBC10AK
Cytomap('BLCAP')('ADK')

20q11.23

10q22.2|10q11-q24

Type of geneprotein-codingprotein-coding
Descriptionbladder cancer-associated proteinbladder cancer associated proteinbladder cancer related protein (10kD)adenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14
Modification date2020031320200313
UniProtAcc.

P55263

Ensembl transtripts involved in fusion geneENST00000373537, ENST00000414542, 
ENST00000397131, ENST00000397134, 
ENST00000397135, ENST00000397137, 
ENST00000411780, 
Fusion gene scores* DoF score12 X 8 X 5=48030 X 17 X 14=7140
# samples 1264
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(64/7140*10)=-3.4797802640291
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BLCAP [Title/Abstract] AND ADK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBLCAP(36156194)-ADK(76429940), # 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
HgeneBLCAP

GO:0030262

apoptotic nuclear changes

17031575



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
ChimerDB4STADTCGA-RD-A8MWBLCAPchr20

36156194

-ADKchr10

76429940

+


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Fusion Gene ORF analysis for BLCAP-ADK

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
5UTR-3CDSENST00000373537ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000373537ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000373537ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000373537ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000414542ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000414542ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000414542ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-3CDSENST00000414542ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-intronENST00000373537ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
5UTR-intronENST00000414542ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397131ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397131ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397131ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397131ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397134ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397134ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397134ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397134ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397135ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397135ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397135ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397135ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397137ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397137ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397137ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000397137ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000411780ENST00000286621BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000411780ENST00000372734BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000411780ENST00000539909BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-3CDSENST00000411780ENST00000541550BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-intronENST00000397131ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-intronENST00000397134ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-intronENST00000397135ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-intronENST00000397137ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+
intron-intronENST00000411780ENST00000467840BLCAPchr20

36156194

-ADKchr10

76429940

+

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 BLCAP-ADK


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)
BLCAPchr2036156194-ADKchr1076429940+1.40E-060.99999857
BLCAPchr2036156194-ADKchr1076429940+1.40E-060.99999857


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 BLCAP-ADK


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/:36156194/:76429940)
- 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
.ADK

P55263

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: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.

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 BLCAP-ADK


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 BLCAP-ADK


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 BLCAP-ADK


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneADKP55263DB00131Adenosine phosphateProduct ofSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for BLCAP-ADK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3280381HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0003129Anoxemia1CTD_human
TgeneC0003130Anoxia1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0242184Hypoxia1CTD_human
TgeneC0700292Hypoxemia1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC3714756Intellectual Disability1CTD_human