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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:PPM1G-AKAP8L (FusionGDB2 ID:HG5496TG26993)

Fusion Gene Summary for PPM1G-AKAP8L

check button Fusion gene summary
Fusion gene informationFusion gene name: PPM1G-AKAP8L
Fusion gene ID: hg5496tg26993
HgeneTgene
Gene symbol

PPM1G

AKAP8L

Gene ID

5496

26993

Gene nameprotein phosphatase, Mg2+/Mn2+ dependent 1GA-kinase anchoring protein 8 like
SynonymsPP2CG|PP2CGAMMA|PPP2CGHA95|HAP95|NAKAP|NAKAP95
Cytomap('PPM1G')('AKAP8L')

2p23.3

19p13.12

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1GPP2C-gammaprotein phosphatase 1Cprotein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoformprotein phosphatase 2, catalytic subunit, gamma isoformprotein phosphatase 2C gamma isoformprotein phosphatase 2C isoform gA-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 90mP
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000344034, ENST00000350803, 
Fusion gene scores* DoF score14 X 12 X 5=8409 X 7 X 8=504
# samples 1711
** MAII scorelog2(17/840*10)=-2.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPM1G [Title/Abstract] AND AKAP8L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPM1G(27632170)-AKAP8L(15491423), # samples:1
Anticipated loss of major functional domain due to fusion event.PPM1G-AKAP8L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
PPM1G-AKAP8L seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
HgenePPM1G

GO:0035970

peptidyl-threonine dephosphorylation

20801214

TgeneAKAP8L

GO:0006397

mRNA processing

17594903

TgeneAKAP8L

GO:0010793

regulation of mRNA export from nucleus

11402034

TgeneAKAP8L

GO:0045944

positive regulation of transcription by RNA polymerase II

11884601


check buttonFusion gene breakpoints across PPM1G (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across AKAP8L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-7722-01APPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-


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Fusion Gene ORF analysis for PPM1G-AKAP8L

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-intronENST00000344034ENST00000595879PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-
5CDS-intronENST00000350803ENST00000595879PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-
Frame-shiftENST00000350803ENST00000397410PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-
Frame-shiftENST00000350803ENST00000595465PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-
In-frameENST00000344034ENST00000397410PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-
In-frameENST00000344034ENST00000595465PPM1Gchr2

27632170

-AKAP8Lchr19

15491423

-

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)
ENST00000344034PPM1Gchr227632170-ENST00000397410AKAP8Lchr1915491423-864385265789174
ENST00000344034PPM1Gchr227632170-ENST00000595465AKAP8Lchr1915491423-86238583794247

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
ENST00000344034ENST00000397410PPM1Gchr227632170-AKAP8Lchr1915491423-0.0042688120.9957312
ENST00000344034ENST00000595465PPM1Gchr227632170-AKAP8Lchr1915491423-0.0042857510.99571425

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Fusion Genomic Features for PPM1G-AKAP8L


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.
genomic feature

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Fusion Protein Features for PPM1G-AKAP8L


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/chr2:27632170/chr19:15491423)
- 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
..
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: 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
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114589_597512647.0Compositional biasNote=Pro-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114602_608512647.0Compositional biasNote=Pro-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114589_597451586.0Compositional biasNote=Pro-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114602_608451586.0Compositional biasNote=Pro-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114484_507451586.0Zinc fingerC2H2 AKAP95-type 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePPM1Gchr2:27632170chr19:15491423ENST00000344034-110258_32240547.0Compositional biasGlu-rich
HgenePPM1Gchr2:27632170chr19:15491423ENST00000350803-211258_32240547.0Compositional biasGlu-rich
HgenePPM1Gchr2:27632170chr19:15491423ENST00000344034-11026_50540547.0DomainPPM-type phosphatase
HgenePPM1Gchr2:27632170chr19:15491423ENST00000350803-21126_50540547.0DomainPPM-type phosphatase
TgeneAKAP8Lchr2:27632170chr19:15491423ENST00000397410111441_52512647.0Compositional biasNote=Gly/Tyr-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST00000595465111441_52451586.0Compositional biasNote=Gly/Tyr-rich
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114274_279512647.0MotifNuclear localization signal
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114280_296512647.0MotifNuclear export signal (NES)
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114362_364512647.0MotifNuclear localization signal
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114274_279451586.0MotifNuclear localization signal
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114280_296451586.0MotifNuclear export signal (NES)
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114362_364451586.0MotifNuclear localization signal
TgeneAKAP8Lchr2:27632170chr19:15491423ENST0000039741011141_268512647.0RegionSufficient for activation of CTE-mediated expression
TgeneAKAP8Lchr2:27632170chr19:15491423ENST0000059546511141_268451586.0RegionSufficient for activation of CTE-mediated expression
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114391_413512647.0Zinc fingerC2H2 AKAP95-type 1
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000003974101114484_507512647.0Zinc fingerC2H2 AKAP95-type 2
TgeneAKAP8Lchr2:27632170chr19:15491423ENST000005954651114391_413451586.0Zinc fingerC2H2 AKAP95-type 1


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Fusion Gene Sequence for PPM1G-AKAP8L


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.
>67630_67630_1_PPM1G-AKAP8L_PPM1G_chr2_27632170_ENST00000344034_AKAP8L_chr19_15491423_ENST00000397410_length(transcript)=864nt_BP=385nt
GGCGAGTTGCTAAGGAAATGACTGCCCGCAGCGCCTGGCCCCGCCGCGCAGGCCGGGCGGGGTCTGGAGCGGCGCCGTTTCCGCTTCCGC
TCCCTCACAGCTCCCGTCCCGTTACCGCCTCCTGGCCGGCCTCGCGCCTTTCACCGGCACCTTGCGTCGGTCGCGCCGCGGGGCCTGCTC
CTGCCGCGCGCACCCCCGGGGCTTCGGCTCCGGCACGGGTCGCGCCCAGCTTTCCTGCACCTGAGGCCGCCGGCCAGCCGCCGCCATGGG
TGCCTACCTCTCCCAGCCCAACACGGTGAAGTGCTCCGGGGACGGGGTCGGCGCCCCGCGCCTGCCGCTGCCCTACGGCTTCTCCGCCAT
GCAAGGCTGGCGCGTCTCCATGGAGCTCATGATGGAGCAGTCCAAGAAGTCCTCCCTCATGGTGGCCCGCAGTATTCTCAACAACAAGCT
CATCAGCAAGAAGCTGGAGCGCTACCTGAAGGGCGAGAACCCTTTCACCGACAGCCCCGAGGAGGAGAAGGAGCAGGAGGAGGCTGAGGG
CGGTGCCCTGGACGAGGGGGCGCAGGGCGAAGCGGCAGGGATCTCGGAGGGCGCAGAGGGCGTGCCGGCGCAGCCTCCCGTGCCCCCAGA
GCCAGCCCCCGGGGCCGTGTCGCCGCCACCGCCGCCGCCCCCAGAGGAGGAGGAGGAGGGCGCCGTGCCCTTGCTGGGAGGGGCGCTGCA
ACGCCAGATCCGCGGCATCCCGGGCCTCGACGTGGAGGACGACGAGGAGGGCGGCGGGGGCGCCCCGTGACCCGAGCTCGGGGCGGGCGG

>67630_67630_1_PPM1G-AKAP8L_PPM1G_chr2_27632170_ENST00000344034_AKAP8L_chr19_15491423_ENST00000397410_length(amino acids)=174AA_BP=40
MGAYLSQPNTVKCSGDGVGAPRLPLPYGFSAMQGWRVSMELMMEQSKKSSLMVARSILNNKLISKKLERYLKGENPFTDSPEEEKEQEEA

--------------------------------------------------------------
>67630_67630_2_PPM1G-AKAP8L_PPM1G_chr2_27632170_ENST00000344034_AKAP8L_chr19_15491423_ENST00000595465_length(transcript)=862nt_BP=385nt
GGCGAGTTGCTAAGGAAATGACTGCCCGCAGCGCCTGGCCCCGCCGCGCAGGCCGGGCGGGGTCTGGAGCGGCGCCGTTTCCGCTTCCGC
TCCCTCACAGCTCCCGTCCCGTTACCGCCTCCTGGCCGGCCTCGCGCCTTTCACCGGCACCTTGCGTCGGTCGCGCCGCGGGGCCTGCTC
CTGCCGCGCGCACCCCCGGGGCTTCGGCTCCGGCACGGGTCGCGCCCAGCTTTCCTGCACCTGAGGCCGCCGGCCAGCCGCCGCCATGGG
TGCCTACCTCTCCCAGCCCAACACGGTGAAGTGCTCCGGGGACGGGGTCGGCGCCCCGCGCCTGCCGCTGCCCTACGGCTTCTCCGCCAT
GCAAGGCTGGCGCGTCTCCATGGAGCTCATGATGGAGCAGTCCAAGAAGTCCTCCCTCATGGTGGCCCGCAGTATTCTCAACAACAAGCT
CATCAGCAAGAAGCTGGAGCGCTACCTGAAGGGCGAGAACCCTTTCACCGACAGCCCCGAGGAGGAGAAGGAGCAGGAGGAGGCTGAGGG
CGGTGCCCTGGACGAGGGGGCGCAGGGCGAAGCGGCAGGGATCTCGGAGGGCGCAGAGGGCGTGCCGGCGCAGCCTCCCGTGCCCCCAGA
GCCAGCCCCCGGGGCCGTGTCGCCGCCACCGCCGCCGCCCCCAGAGGAGGAGGAGGAGGGCGCCGTGCCCTTGCTGGGAGGGGCGCTGCA
ACGCCAGATCCGCGGCATCCCGGGCCTCGACGTGGAGGACGACGAGGAGGGCGGCGGGGGCGCCCCGTGACCCGAGCTCGGGGCGGGCGG

>67630_67630_2_PPM1G-AKAP8L_PPM1G_chr2_27632170_ENST00000344034_AKAP8L_chr19_15491423_ENST00000595465_length(amino acids)=247AA_BP=1
MVSSFGHAGSARPELGSRGAPAALLVVLHVEARDAADLALQRPSQQGHGALLLLLWGRRRWRRHGPGGWLWGHGRLRRHALCALRDPCRF
ALRPLVQGTALSLLLLLLLLGAVGERVLALQVALQLLADELVVENTAGHHEGGLLGLLHHELHGDAPALHGGEAVGQRQARGADPVPGAL

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Fusion Gene PPI Analysis for PPM1G-AKAP8L


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 PPM1G-AKAP8L


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 PPM1G-AKAP8L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPM1GC0001956Alcohol Use Disorder1PSYGENET