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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:PIK3AP1-AVPI1 (FusionGDB2 ID:65336)

Fusion Gene Summary for PIK3AP1-AVPI1

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3AP1-AVPI1
Fusion gene ID: 65336
HgeneTgene
Gene symbol

PIK3AP1

AVPI1

Gene ID

118788

60370

Gene namephosphoinositide-3-kinase adaptor protein 1arginine vasopressin induced 1
SynonymsBCAPPP5395|VIP32|VIT32
Cytomap

10q24.1

10q24.2

Type of geneprotein-codingprotein-coding
Descriptionphosphoinositide 3-kinase adapter protein 1B cell adaptor proteinB-cell adapter for phosphoinositide 3-kinaseB-cell phosphoinositide 3-kinase adapter protein 1arginine vasopressin-induced protein 1AVP-induced protein 1vasopressin-induced transcript
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000468783, ENST00000339364, 
ENST00000371110, ENST00000371109, 
ENST00000370626, 
Fusion gene scores* DoF score4 X 4 X 4=642 X 1 X 1=2
# samples 52
** MAII scorelog2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/2*10)=3.32192809488736
Context

PubMed: PIK3AP1 [Title/Abstract] AND AVPI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIK3AP1(98408416)-AVPI1(99437782), # samples:3
Anticipated loss of major functional domain due to fusion event.PIK3AP1-AVPI1 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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

check buttonFusion gene breakpoints across PIK3AP1 (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 AVPI1 (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 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
ChimerDB4LIHCTCGA-KR-A7K8-01APIK3AP1chr10

98408416

-AVPI1chr10

99437782

-
ChimerDB4LIHCTCGA-KR-A7K8PIK3AP1chr10

98408415

-AVPI1chr10

99437782

-


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Fusion Gene ORF analysis for PIK3AP1-AVPI1

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-3CDSENST00000468783ENST00000370626PIK3AP1chr10

98408416

-AVPI1chr10

99437782

-
5UTR-3CDSENST00000468783ENST00000370626PIK3AP1chr10

98408415

-AVPI1chr10

99437782

-
Frame-shiftENST00000339364ENST00000370626PIK3AP1chr10

98408416

-AVPI1chr10

99437782

-
Frame-shiftENST00000339364ENST00000370626PIK3AP1chr10

98408415

-AVPI1chr10

99437782

-
In-frameENST00000371110ENST00000370626PIK3AP1chr10

98408416

-AVPI1chr10

99437782

-
In-frameENST00000371110ENST00000370626PIK3AP1chr10

98408415

-AVPI1chr10

99437782

-
intron-3CDSENST00000371109ENST00000370626PIK3AP1chr10

98408416

-AVPI1chr10

99437782

-
intron-3CDSENST00000371109ENST00000370626PIK3AP1chr10

98408415

-AVPI1chr10

99437782

-

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)
ENST00000371110PIK3AP1chr1098408416-ENST00000370626AVPI1chr1099437782-143883629898289
ENST00000371110PIK3AP1chr1098408415-ENST00000370626AVPI1chr1099437782-143883629898289

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
ENST00000371110ENST00000370626PIK3AP1chr1098408416-AVPI1chr1099437782-0.004278310.9957217
ENST00000371110ENST00000370626PIK3AP1chr1098408415-AVPI1chr1099437782-0.004278310.9957217

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Fusion Genomic Features for PIK3AP1-AVPI1


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

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.

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Fusion Protein Features for PIK3AP1-AVPI1


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/chr10:98408416/chr10:99437782)
- 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
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000339364-717181_317395806.0DomainDBB
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000339364-7178_145395806.0DomainTIR
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371110-6168_145217628.0DomainTIR
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000339364-717181_317395806.0DomainDBB
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000339364-7178_145395806.0DomainTIR
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371110-6168_145217628.0DomainTIR

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000339364-717645_667395806.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371109-110645_6670405.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371110-616645_667217628.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000339364-717645_667395806.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371109-110645_6670405.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371110-616645_667217628.0Coiled coilOntology_term=ECO:0000255
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000339364-717760_802395806.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371109-110760_8020405.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371110-616760_802217628.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000339364-717760_802395806.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371109-110760_8020405.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371110-616760_802217628.0Compositional biasNote=Pro-rich
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371109-110181_3170405.0DomainDBB
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371109-1108_1450405.0DomainTIR
HgenePIK3AP1chr10:98408415chr10:99437782ENST00000371110-616181_317217628.0DomainDBB
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371109-110181_3170405.0DomainDBB
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371109-1108_1450405.0DomainTIR
HgenePIK3AP1chr10:98408416chr10:99437782ENST00000371110-616181_317217628.0DomainDBB


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Fusion Gene Sequence for PIK3AP1-AVPI1


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.
>65336_65336_1_PIK3AP1-AVPI1_PIK3AP1_chr10_98408415_ENST00000371110_AVPI1_chr10_99437782_ENST00000370626_length(transcript)=1438nt_BP=836nt
ATAATGCTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGACTCGGCTTCCCAAAGCACTTGGATTACAGATTCTGGCT
GTGACTCAGTCACTGACACTGAGCCTGAGGACGAGAAGGTTGTTTCCTACTCGAAGCAGCAGAACCTGCCGACGGTGACTTCACCTGGGA
ACCTGATGGTGGTGCAGCCGGACCGCATTCGCTGTGGGGCAGAAACCACTGTCTATGTTATTGTGAGATGTAAGCTGGATGACAGGGTGG
CGACAGAAGCAGAGTTTTCTCCTGAGGATTCTCCCTCTGTAAGGATGGAAGCCAAGGTGGAGAATGAGTACACCATTTCAGTGAAGGCTC
CCAACCTTTCATCTGGGAACGTTTCTCTGAAGATATATTCTGGAGACTTAGTGGTGTGTGAAACCGTTATCAGCTATTATACTGACATGG
AAGAAATTGGGAATTTATTGTCCAATGCCGCGAATCCTGTGGAATTCATGTGTCAGGCCTTTAAAATTGTGCCCTACAACACAGAGACCC
TTGATAAACTGCTAACCGAATCCCTGAAGAACAATATCCCTGCAAGCGGACTGCACCTCTTTGGAATCAACCAGCTGGAAGAAGAAGATA
TGATGACAAATCAGAGGGATGAAGAGCTGCCCACCCTGTTGCATTTTGCTGCGAAGTATGGACTGAAGAACCTCACTGCCTTGTTGCTCA
CCTGCCCAGGAGCCCTGCAGGCGTACAGCGTGGCCAACAAGCATGGCCACTACCCCAACACCATCGCTGAGAAACACGGCTTCAGGGACC
TGCGGCAGTTCATCGACGAGTATGTGAATCCTGGAGCCCCACTCTGCACTGGCCAACCCACAGAGTGCCACAGAGACAGCCTCCAGTGAG
CAGTATCTGCACTCTAGGAAGAAAAGTGCCAGGATCCGCCGGAACTGGAGGAAGTCAGGCCCCACAAGCTACCTCCACCAGATCAGACAC
TGATCCAGGGAAAGAGCCAGGAATGGCAGTGTCTTCCCTCTTGCCAAAAGGCCTGGGGAGGTGAAGGAAGAGAGACTTTAGGCAAGCAGC
CCAAAGGGGTAAATGAAAGCAAGAGGCTGCTGCCACTGACCTGCTCCATTCAGAACAAGACTGGATGCTTCTGTTGAGCTCTCCATTATG
TGGGACCCATTCCTCACCAAAATGAGGAGAGACAGTGACTGTTCCTGCCACAGTCCTTCCCAGTCTAACACTATTCCTGGGCTGCATGAT
ATTCCCCTGGGAGCAAAGTGACAGGCACTTAGATGCAGCATTTCACCACTCATGCTACTAATCATCTACCTGCTACTACTGTAAACCATG

>65336_65336_1_PIK3AP1-AVPI1_PIK3AP1_chr10_98408415_ENST00000371110_AVPI1_chr10_99437782_ENST00000370626_length(amino acids)=289AA_BP=269
MSSSNPPDSASQSTWITDSGCDSVTDTEPEDEKVVSYSKQQNLPTVTSPGNLMVVQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPED
SPSVRMEAKVENEYTISVKAPNLSSGNVSLKIYSGDLVVCETVISYYTDMEEIGNLLSNAANPVEFMCQAFKIVPYNTETLDKLLTESLK
NNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTCPGALQAYSVANKHGHYPNTIAEKHGFRDLRQFIDEYVN

--------------------------------------------------------------
>65336_65336_2_PIK3AP1-AVPI1_PIK3AP1_chr10_98408416_ENST00000371110_AVPI1_chr10_99437782_ENST00000370626_length(transcript)=1438nt_BP=836nt
ATAATGCTGCCCAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATCCTCCCGACTCGGCTTCCCAAAGCACTTGGATTACAGATTCTGGCT
GTGACTCAGTCACTGACACTGAGCCTGAGGACGAGAAGGTTGTTTCCTACTCGAAGCAGCAGAACCTGCCGACGGTGACTTCACCTGGGA
ACCTGATGGTGGTGCAGCCGGACCGCATTCGCTGTGGGGCAGAAACCACTGTCTATGTTATTGTGAGATGTAAGCTGGATGACAGGGTGG
CGACAGAAGCAGAGTTTTCTCCTGAGGATTCTCCCTCTGTAAGGATGGAAGCCAAGGTGGAGAATGAGTACACCATTTCAGTGAAGGCTC
CCAACCTTTCATCTGGGAACGTTTCTCTGAAGATATATTCTGGAGACTTAGTGGTGTGTGAAACCGTTATCAGCTATTATACTGACATGG
AAGAAATTGGGAATTTATTGTCCAATGCCGCGAATCCTGTGGAATTCATGTGTCAGGCCTTTAAAATTGTGCCCTACAACACAGAGACCC
TTGATAAACTGCTAACCGAATCCCTGAAGAACAATATCCCTGCAAGCGGACTGCACCTCTTTGGAATCAACCAGCTGGAAGAAGAAGATA
TGATGACAAATCAGAGGGATGAAGAGCTGCCCACCCTGTTGCATTTTGCTGCGAAGTATGGACTGAAGAACCTCACTGCCTTGTTGCTCA
CCTGCCCAGGAGCCCTGCAGGCGTACAGCGTGGCCAACAAGCATGGCCACTACCCCAACACCATCGCTGAGAAACACGGCTTCAGGGACC
TGCGGCAGTTCATCGACGAGTATGTGAATCCTGGAGCCCCACTCTGCACTGGCCAACCCACAGAGTGCCACAGAGACAGCCTCCAGTGAG
CAGTATCTGCACTCTAGGAAGAAAAGTGCCAGGATCCGCCGGAACTGGAGGAAGTCAGGCCCCACAAGCTACCTCCACCAGATCAGACAC
TGATCCAGGGAAAGAGCCAGGAATGGCAGTGTCTTCCCTCTTGCCAAAAGGCCTGGGGAGGTGAAGGAAGAGAGACTTTAGGCAAGCAGC
CCAAAGGGGTAAATGAAAGCAAGAGGCTGCTGCCACTGACCTGCTCCATTCAGAACAAGACTGGATGCTTCTGTTGAGCTCTCCATTATG
TGGGACCCATTCCTCACCAAAATGAGGAGAGACAGTGACTGTTCCTGCCACAGTCCTTCCCAGTCTAACACTATTCCTGGGCTGCATGAT
ATTCCCCTGGGAGCAAAGTGACAGGCACTTAGATGCAGCATTTCACCACTCATGCTACTAATCATCTACCTGCTACTACTGTAAACCATG

>65336_65336_2_PIK3AP1-AVPI1_PIK3AP1_chr10_98408416_ENST00000371110_AVPI1_chr10_99437782_ENST00000370626_length(amino acids)=289AA_BP=269
MSSSNPPDSASQSTWITDSGCDSVTDTEPEDEKVVSYSKQQNLPTVTSPGNLMVVQPDRIRCGAETTVYVIVRCKLDDRVATEAEFSPED
SPSVRMEAKVENEYTISVKAPNLSSGNVSLKIYSGDLVVCETVISYYTDMEEIGNLLSNAANPVEFMCQAFKIVPYNTETLDKLLTESLK
NNIPASGLHLFGINQLEEEDMMTNQRDEELPTLLHFAAKYGLKNLTALLLTCPGALQAYSVANKHGHYPNTIAEKHGFRDLRQFIDEYVN

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Fusion Gene PPI Analysis for PIK3AP1-AVPI1


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 PIK3AP1-AVPI1


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 PIK3AP1-AVPI1


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