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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:ADK-AKAP13 (FusionGDB2 ID:HG132TG11214)

Fusion Gene Summary for ADK-AKAP13

check button Fusion gene summary
Fusion gene informationFusion gene name: ADK-AKAP13
Fusion gene ID: hg132tg11214
HgeneTgene
Gene symbol

ADK

AKAP13

Gene ID

132

11214

Gene nameadenosine kinaseA-kinase anchoring protein 13
SynonymsAKAKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47
Cytomap('ADK')('AKAP13')

10q22.2|10q11-q24

15q25.3

Type of geneprotein-codingprotein-coding
Descriptionadenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14A-kinase anchor protein 13A kinase (PRKA) anchor protein 13LBC oncogenebreast cancer nuclear receptor-binding auxiliary proteinguanine nucleotide exchange factor Lbchuman thyroid-anchoring protein 31lymphoid blast crisis oncogenenon-oncogenic Rho G
Modification date2020031320200313
UniProtAcc

P55263

.
Ensembl transtripts involved in fusion geneENST00000467840, ENST00000286621, 
ENST00000372734, ENST00000541550, 
ENST00000539909, 
Fusion gene scores* DoF score19 X 13 X 10=247019 X 22 X 6=2508
# samples 2622
** MAII scorelog2(26/2470*10)=-3.24792751344359
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/2508*10)=-3.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADK [Title/Abstract] AND AKAP13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADK(76285184)-AKAP13(86182604), # samples:1
ADK(76285184)-AKAP13(86182605), # 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
TgeneAKAP13

GO:0007186

G protein-coupled receptor signaling pathway

11546812

TgeneAKAP13

GO:0035025

positive regulation of Rho protein signal transduction

11546812



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-BR-8296-01AADKchr10

76285184

+AKAP13chr15

86182605

+
ChimerDB4STADTCGA-BR-8296ADKchr10

76285184

+AKAP13chr15

86182604

+


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Fusion Gene ORF analysis for ADK-AKAP13

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
3UTR-3UTRENST00000467840ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182605

+
3UTR-3UTRENST00000467840ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182604

+
3UTR-intronENST00000467840ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182605

+
3UTR-intronENST00000467840ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182604

+
3UTR-intronENST00000467840ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182605

+
3UTR-intronENST00000467840ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182604

+
3UTR-intronENST00000467840ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182605

+
3UTR-intronENST00000467840ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182604

+
3UTR-intronENST00000467840ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182605

+
3UTR-intronENST00000467840ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-3UTRENST00000286621ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-3UTRENST00000286621ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-3UTRENST00000372734ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-3UTRENST00000372734ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-3UTRENST00000541550ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-3UTRENST00000541550ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000286621ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000286621ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000286621ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000286621ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000286621ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000286621ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000286621ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000286621ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000372734ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000372734ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000372734ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000372734ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000372734ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000372734ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000372734ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000372734ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000541550ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000541550ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000541550ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000541550ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000541550ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000541550ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182604

+
5CDS-intronENST00000541550ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182605

+
5CDS-intronENST00000541550ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182604

+
intron-3UTRENST00000539909ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182605

+
intron-3UTRENST00000539909ENST00000560579ADKchr10

76285184

+AKAP13chr15

86182604

+
intron-intronENST00000539909ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182605

+
intron-intronENST00000539909ENST00000361243ADKchr10

76285184

+AKAP13chr15

86182604

+
intron-intronENST00000539909ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182605

+
intron-intronENST00000539909ENST00000394510ADKchr10

76285184

+AKAP13chr15

86182604

+
intron-intronENST00000539909ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182605

+
intron-intronENST00000539909ENST00000394518ADKchr10

76285184

+AKAP13chr15

86182604

+
intron-intronENST00000539909ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182605

+
intron-intronENST00000539909ENST00000560302ADKchr10

76285184

+AKAP13chr15

86182604

+

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 ADK-AKAP13


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)
ADKchr1076285184+AKAP13chr1586182604+3.42E-091
ADKchr1076285184+AKAP13chr1586182604+3.42E-091
ADKchr1076285184+AKAP13chr1586182604+3.42E-091
ADKchr1076285184+AKAP13chr1586182604+3.42E-091


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 ADK-AKAP13


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/:76285184/:86182604)
- 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: 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.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 ADK-AKAP13


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 ADK-AKAP13


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 ADK-AKAP13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneADKP55263DB00131Adenosine phosphateProduct ofSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for ADK-AKAP13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADKC3280381HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADKC0003129Anoxemia1CTD_human
HgeneADKC0003130Anoxia1CTD_human
HgeneADKC0020796Profound Mental Retardation1CTD_human
HgeneADKC0025363Mental Retardation, Psychosocial1CTD_human
HgeneADKC0036341Schizophrenia1PSYGENET
HgeneADKC0242184Hypoxia1CTD_human
HgeneADKC0700292Hypoxemia1CTD_human
HgeneADKC0917816Mental deficiency1CTD_human
HgeneADKC3714756Intellectual Disability1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human