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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:AKAP8L-NF2 (FusionGDB2 ID:3377)

Fusion Gene Summary for AKAP8L-NF2

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP8L-NF2
Fusion gene ID: 3377
HgeneTgene
Gene symbol

AKAP8L

NF2

Gene ID

26993

4771

Gene nameA-kinase anchoring protein 8 likeneurofibromin 2
SynonymsHA95|HAP95|NAKAP|NAKAP95ACN|BANF|SCH
Cytomap

19p13.12

22q12.2

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 8-likeA kinase (PRKA) anchor protein 8-likeAKAP8-like proteinhelicase A-binding protein 95 kDahomologous to AKAP95 proteinneighbor of A-kinase anchoring protein 95neighbor of AKAP95testis tissue sperm-binding protein Li 90mPmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin
Modification date2020031320200322
UniProtAcc

Q9ULX6

P35240

Ensembl transtripts involved in fusion geneENST00000397410, ENST00000595465, 
ENST00000595879, 		ENST00000334961, 
ENST00000338641, ENST00000347330, 
ENST00000353887, ENST00000361166, 
ENST00000361452, ENST00000361676, 
ENST00000397789, ENST00000403435, 
ENST00000403999, ENST00000413209, 
Fusion gene scores* DoF score9 X 10 X 6=54015 X 13 X 7=1365
# samples 1317
** MAII scorelog2(13/540*10)=-2.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1365*10)=-3.00529429966951
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKAP8L [Title/Abstract] AND NF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP8L(15511604)-NF2(30067814), # 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
HgeneAKAP8L

GO:0006397

mRNA processing

17594903

HgeneAKAP8L

GO:0010793

regulation of mRNA export from nucleus

11402034

HgeneAKAP8L

GO:0045944

positive regulation of transcription by RNA polymerase II

11884601

TgeneNF2

GO:0008285

negative regulation of cell proliferation

12444102|20178741

TgeneNF2

GO:0022408

negative regulation of cell-cell adhesion

17210637

TgeneNF2

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

12444102

TgeneNF2

GO:0046426

negative regulation of JAK-STAT cascade

12444102


check buttonFusion gene breakpoints across AKAP8L (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 NF2 (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
ChimerDB4UCECTCGA-AX-A060AKAP8Lchr19

15511604

-NF2chr22

30067814

+


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Fusion Gene ORF analysis for AKAP8L-NF2

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-intronENST00000397410ENST00000334961AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000338641AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000347330AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000353887AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000361166AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000361452AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000361676AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000397789AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000403435AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000403999AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000397410ENST00000413209AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000334961AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000338641AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000347330AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000353887AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000361166AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000361452AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000361676AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000397789AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000403435AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000403999AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5CDS-intronENST00000595465ENST00000413209AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000334961AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000338641AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000347330AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000353887AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000361166AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000361452AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000361676AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000397789AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000403435AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000403999AKAP8Lchr19

15511604

-NF2chr22

30067814

+
5UTR-intronENST00000595879ENST00000413209AKAP8Lchr19

15511604

-NF2chr22

30067814

+

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 AKAP8L-NF2


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)
AKAP8Lchr1915511604-NF2chr2230067814+2.34E-070.99999976
AKAP8Lchr1915511604-NF2chr2230067814+2.34E-070.99999976

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.
genomic feature

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 AKAP8L-NF2


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/:15511604/:30067814)
- 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
AKAP8L

Q9ULX6

NF2

P35240

FUNCTION: Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export (PubMed:10748171, PubMed:11402034). Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA (PubMed:10761695, PubMed:11884601). May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis (PubMed:11034899). May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta (PubMed:12538639). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8 (PubMed:16980585). May be involved in regulation of pre-mRNA splicing (PubMed:17594903). {ECO:0000269|PubMed:10748171, ECO:0000269|PubMed:11034899, ECO:0000269|PubMed:11402034, ECO:0000269|PubMed:11884601, ECO:0000269|PubMed:12538639, ECO:0000269|PubMed:16980585, ECO:0000305|PubMed:10761695}.; FUNCTION: (Microbial infection) In case of EBV infection, may target PRKACA to EBNA-LP-containing nuclear sites to modulate transcription from specific promoters. {ECO:0000269|PubMed:11884601}.; FUNCTION: (Microbial infection) Can synergize with DHX9 to activate the CTE-mediated gene expression of type D retroviruses. {ECO:0000269|PubMed:11402034}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, involved in the DHX9-promoted annealing of host tRNA(Lys3) to viral genomic RNA as a primer in reverse transcription; in vitro negatively regulates DHX9 annealing activity. {ECO:0000269|PubMed:25034436}.FUNCTION: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:20159598, ECO:0000269|PubMed:20178741, ECO:0000269|PubMed:21167305}.

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 AKAP8L-NF2


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 AKAP8L-NF2


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 AKAP8L-NF2


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 AKAP8L-NF2


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