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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:AKAP13-NRG1 (FusionGDB2 ID:HG11214TG3084)

Fusion Gene Summary for AKAP13-NRG1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP13-NRG1
Fusion gene ID: hg11214tg3084
HgeneTgene
Gene symbol

AKAP13

NRG1

Gene ID

11214

3084

Gene nameA-kinase anchoring protein 13neuregulin 1
SynonymsAKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF
Cytomap('AKAP13')('NRG1')

15q25.3

8p12

Type of geneprotein-codingprotein-coding
DescriptionA-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 Gpro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factor
Modification date2020031320200320
UniProtAcc.

Q02297

Ensembl transtripts involved in fusion geneENST00000361243, ENST00000394518, 
ENST00000394510, ENST00000560302, 
ENST00000560579, 
Fusion gene scores* DoF score37 X 24 X 13=1154425 X 17 X 14=5950
# samples 4127
** MAII scorelog2(41/11544*10)=-4.81537548498575
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/5950*10)=-4.46185835603184
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKAP13 [Title/Abstract] AND NRG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP13(86087186)-NRG1(32453346), # samples:2
Anticipated loss of major functional domain due to fusion event.AKAP13-NRG1 seems lost the major protein functional domain in Tgene partner, which is a CGC 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
HgeneAKAP13

GO:0007186

G protein-coupled receptor signaling pathway

11546812

HgeneAKAP13

GO:0035025

positive regulation of Rho protein signal transduction

11546812

TgeneNRG1

GO:0003222

ventricular trabecula myocardium morphogenesis

17336907

TgeneNRG1

GO:0031334

positive regulation of protein complex assembly

10559227

TgeneNRG1

GO:0038127

ERBB signaling pathway

11389077

TgeneNRG1

GO:0038129

ERBB3 signaling pathway

27353365

TgeneNRG1

GO:0045892

negative regulation of transcription, DNA-templated

15073182

TgeneNRG1

GO:0051048

negative regulation of secretion

10559227

TgeneNRG1

GO:0060379

cardiac muscle cell myoblast differentiation

17336907

TgeneNRG1

GO:0060956

endocardial cell differentiation

17336907



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
ChimerDB4BRCATCGA-EW-A1P0-01AAKAP13chr15

86087186

-NRG1chr8

32453346

+
ChimerDB4BRCATCGA-EW-A1P0-01AAKAP13chr15

86087186

+NRG1chr8

32453346

+


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Fusion Gene ORF analysis for AKAP13-NRG1

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-intronENST00000361243ENST00000520502AKAP13chr15

86087186

+NRG1chr8

32453346

+
5CDS-intronENST00000361243ENST00000523681AKAP13chr15

86087186

+NRG1chr8

32453346

+
5CDS-intronENST00000361243ENST00000539990AKAP13chr15

86087186

+NRG1chr8

32453346

+
5CDS-intronENST00000394518ENST00000520502AKAP13chr15

86087186

+NRG1chr8

32453346

+
5CDS-intronENST00000394518ENST00000523681AKAP13chr15

86087186

+NRG1chr8

32453346

+
5CDS-intronENST00000394518ENST00000539990AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000287842AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000287845AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000338921AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000341377AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000356819AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000405005AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000519301AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000520407AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000521670AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000361243ENST00000523079AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000287842AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000287845AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000338921AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000341377AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000356819AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000405005AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000519301AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000520407AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000521670AKAP13chr15

86087186

+NRG1chr8

32453346

+
Frame-shiftENST00000394518ENST00000523079AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000287842AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000287845AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000338921AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000341377AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000356819AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000405005AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000519301AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000520407AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000521670AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000394510ENST00000523079AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000287842AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000287845AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000338921AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000341377AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000356819AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000405005AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000519301AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000520407AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000521670AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560302ENST00000523079AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000287842AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000287845AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000338921AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000341377AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000356819AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000405005AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000519301AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000520407AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000521670AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-3CDSENST00000560579ENST00000523079AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000394510ENST00000520502AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000394510ENST00000523681AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000394510ENST00000539990AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560302ENST00000520502AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560302ENST00000523681AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560302ENST00000539990AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560579ENST00000520502AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560579ENST00000523681AKAP13chr15

86087186

+NRG1chr8

32453346

+
intron-intronENST00000560579ENST00000539990AKAP13chr15

86087186

+NRG1chr8

32453346

+

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 AKAP13-NRG1


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)
AKAP13chr1586087186+NRG1chr832453345+0.0011189960.99888104
AKAP13chr1586087186+NRG1chr832453345+0.0011189960.99888104


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 AKAP13-NRG1


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/:86087186/:32453346)
- 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
.NRG1

Q02297

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: Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumor cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4 (PubMed:10867024, PubMed:7902537). Binds to ERBB3 (PubMed:20682778). Acts as a ligand for integrins and binds (via EGF domain) to integrins ITGAV:ITGB3 or ITGA6:ITGB4. Its binding to integrins and subsequent ternary complex formation with integrins and ERRB3 are essential for NRG1-ERBB signaling. Induces the phosphorylation and activation of MAPK3/ERK1, MAPK1/ERK2 and AKT1 (PubMed:20682778). Ligand-dependent ERBB4 endocytosis is essential for the NRG1-mediated activation of these kinases in neurons (By similarity). {ECO:0000250|UniProtKB:P43322, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:1348215, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:7902537}.

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 AKAP13-NRG1


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 AKAP13-NRG1


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 AKAP13-NRG1


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 AKAP13-NRG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKAP13C0007134Renal Cell Carcinoma1CTD_human
HgeneAKAP13C0014859Esophageal Neoplasms1CTD_human
HgeneAKAP13C0033578Prostatic Neoplasms1CTD_human
HgeneAKAP13C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneAKAP13C0376358Malignant neoplasm of prostate1CTD_human
HgeneAKAP13C0546837Malignant neoplasm of esophagus1CTD_human
HgeneAKAP13C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneAKAP13C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneAKAP13C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneAKAP13C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC0036341Schizophrenia7CTD_human
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0024809Marijuana Abuse3PSYGENET
TgeneC0011570Mental Depression2PSYGENET
TgeneC0011581Depressive disorder2PSYGENET
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006870Cannabis Dependence1PSYGENET
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019569Hirschsprung Disease1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0026650Movement Disorders1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0038358Gastric ulcer1CTD_human
TgeneC0085758Aganglionosis, Colonic1CTD_human
TgeneC0087031Juvenile-Onset Still Disease1CTD_human
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0266487Etat Marbre1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0876994Cardiotoxicity1CTD_human
TgeneC1136382Sclerocystic Ovaries1CTD_human
TgeneC1257840Aganglionosis, Rectosigmoid Colon1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC3495559Juvenile arthritis1CTD_human
TgeneC3661523Congenital Intestinal Aganglionosis1CTD_human
TgeneC3714758Juvenile psoriatic arthritis1CTD_human
TgeneC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
TgeneC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human