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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:PIK3CB-COPB2 (FusionGDB2 ID:65370)

Fusion Gene Summary for PIK3CB-COPB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PIK3CB-COPB2
Fusion gene ID: 65370
HgeneTgene
Gene symbol

PIK3CB

COPB2

Gene ID

5291

9276

Gene namephosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit betaCOPI coat complex subunit beta 2
SynonymsP110BETA|PI3K|PI3KBETA|PIK3C1MCPH19|beta'-COP
Cytomap

3q22.3

3q23

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoformPI3-kinase p110 subunit betaPI3-kinase subunit betaPI3K-betaPtdIns-3-kinase p110phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit betaphosphoinositidcoatomer subunit beta'beta'-coat proteinbetaprime-COPcoatomer binding complex, beta prime subunitcoatomer protein complex subunit beta 2coatomer protein complex subunit beta primecoatomer protein complex, subunit beta 2 (beta prime)p102
Modification date2020031320200313
UniProtAcc.

P35606

Ensembl transtripts involved in fusion geneENST00000289153, ENST00000477593, 
ENST00000544716, 
ENST00000507777, 
ENST00000510491, ENST00000333188, 
Fusion gene scores* DoF score15 X 13 X 11=21457 X 6 X 2=84
# samples 177
** MAII scorelog2(17/2145*10)=-3.65737099624921
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIK3CB [Title/Abstract] AND COPB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPIK3CB(138478015)-COPB2(139102277), # samples:3
Anticipated loss of major functional domain due to fusion event.PIK3CB-COPB2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PIK3CB-COPB2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PIK3CB-COPB2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PIK3CB-COPB2 seems lost the major protein functional domain in Tgene 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
HgenePIK3CB

GO:0016310

phosphorylation

25327288

TgeneCOPB2

GO:0006891

intra-Golgi vesicle-mediated transport

8335000


check buttonFusion gene breakpoints across PIK3CB (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 COPB2 (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
ChimerDB4BRCATCGA-EW-A3E8-01BPIK3CBchr3

138478015

-COPB2chr3

139102277

-


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Fusion Gene ORF analysis for PIK3CB-COPB2

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-5UTRENST00000289153ENST00000507777PIK3CBchr3

138478015

-COPB2chr3

139102277

-
5CDS-5UTRENST00000289153ENST00000510491PIK3CBchr3

138478015

-COPB2chr3

139102277

-
5CDS-5UTRENST00000477593ENST00000507777PIK3CBchr3

138478015

-COPB2chr3

139102277

-
5CDS-5UTRENST00000477593ENST00000510491PIK3CBchr3

138478015

-COPB2chr3

139102277

-
Frame-shiftENST00000477593ENST00000333188PIK3CBchr3

138478015

-COPB2chr3

139102277

-
In-frameENST00000289153ENST00000333188PIK3CBchr3

138478015

-COPB2chr3

139102277

-
intron-3CDSENST00000544716ENST00000333188PIK3CBchr3

138478015

-COPB2chr3

139102277

-
intron-5UTRENST00000544716ENST00000507777PIK3CBchr3

138478015

-COPB2chr3

139102277

-
intron-5UTRENST00000544716ENST00000510491PIK3CBchr3

138478015

-COPB2chr3

139102277

-

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)
ENST00000289153PIK3CBchr3138478015-ENST00000333188COPB2chr3139102277-334617102888962

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
ENST00000289153ENST00000333188PIK3CBchr3138478015-COPB2chr3139102277-0.0006708650.9993292

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Fusion Genomic Features for PIK3CB-COPB2


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 PIK3CB-COPB2


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/chr3:138478015/chr3:139102277)
- 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
.COPB2

P35606

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: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors (By similarity). {ECO:0000250}.; FUNCTION: This coatomer complex protein, essential for Golgi budding and vesicular trafficking, is a selective binding protein (RACK) for protein kinase C, epsilon type. It binds to Golgi membranes in a GTP-dependent manner (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
TgeneCOPB2chr3:138478015chr3:139102277ENST00000333188022866_8911907.0Coiled coilOntology_term=ECO:0000255
TgeneCOPB2chr3:138478015chr3:139102277ENST0000033318802213_521907.0RepeatNote=WD 1
TgeneCOPB2chr3:138478015chr3:139102277ENST00000333188022140_1801907.0RepeatNote=WD 4
TgeneCOPB2chr3:138478015chr3:139102277ENST00000333188022183_2241907.0RepeatNote=WD 5
TgeneCOPB2chr3:138478015chr3:139102277ENST00000333188022227_2661907.0RepeatNote=WD 6
TgeneCOPB2chr3:138478015chr3:139102277ENST0000033318802255_941907.0RepeatNote=WD 2
TgeneCOPB2chr3:138478015chr3:139102277ENST0000033318802297_1361907.0RepeatNote=WD 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-122194_285571071.0DomainPI3K-RBD
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-12226_115571071.0DomainPI3K-ABD
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-122327_496571071.0DomainC2 PI3K-type
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-122524_701571071.0DomainPIK helical
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-122800_1067571071.0DomainPI3K/PI4K
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-223194_285571071.0DomainPI3K-RBD
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-22326_115571071.0DomainPI3K-ABD
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-223327_496571071.0DomainC2 PI3K-type
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-223524_701571071.0DomainPIK helical
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-223800_1067571071.0DomainPI3K/PI4K
HgenePIK3CBchr3:138478015chr3:139102277ENST00000289153-122410_418571071.0MotifNote=Nuclear localization signal
HgenePIK3CBchr3:138478015chr3:139102277ENST00000477593-223410_418571071.0MotifNote=Nuclear localization signal


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Fusion Gene Sequence for PIK3CB-COPB2


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.
>65370_65370_1_PIK3CB-COPB2_PIK3CB_chr3_138478015_ENST00000289153_COPB2_chr3_139102277_ENST00000333188_length(transcript)=3346nt_BP=171nt
ATGTGCTTCAGTTTCATAATGCCTCCTGCTATGGCAGACATCCTTGACATCTGGGCGGTGGATTCACAGATAGCATCTGATGGCTCCATA
CCTGTGGATTTCCTTTTGCCCACTGGGATTTATATCCAGTTGGAGGTACCTCGGGAAGCTACCATTTCTTATATTAAGCAGCCTCTGCGA
CTTGATATCAAAAGAAAGCTAACTGCTAGATCTGATCGAGTTAAGAGTGTGGATCTGCATCCTACAGAGCCATGGATGTTGGCAAGTCTT
TACAATGGCAGTGTGTGTGTTTGGAATCATGAAACACAGACACTGGTGAAGACATTTGAAGTATGTGATCTTCCTGTTCGAGCTGCAAAG
TTTGTTGCAAGGAAGAATTGGGTTGTGACAGGAGCGGATGACATGCAGATTAGAGTGTTCAATTACAATACTCTGGAGAGAGTTCATATG
TTTGAAGCACACTCAGACTACATTCGCTGTATTGCTGTTCATCCAACCCAGCCTTTCATTCTAACTAGCAGTGATGACATGCTTATTAAG
CTCTGGGACTGGGATAAAAAATGGTCTTGCTCACAAGTGTTTGAAGGACACACCCATTATGTTATGCAGATTGTGATCAACCCCAAAGAT
AACAATCAGTTTGCCAGTGCCTCTTTGGACAGGACTATCAAGGTGTGGCAGTTGGGCTCTTCGTCACCAAACTTCACTTTGGAAGGACAT
GAGAAAGGCGTGAATTGCATTGATTACTACAGTGGTGGGGACAAGCCATACCTCATTTCAGGTGCAGATGACCGTCTTGTTAAAATATGG
GATTATCAGAATAAAACATGTGTGCAGACACTGGAAGGACATGCCCAAAATGTGTCTTGTGCCAGCTTTCATCCTGAGTTGCCAATCATT
ATCACAGGTTCAGAAGATGGAACAGTACGTATTTGGCATTCAAGCACCTACCGGCTTGAGAGCACACTGAATTATGGAATGGAGAGGGTA
TGGTGCGTGGCCAGTCTAAGAGGGTCAAACAATGTCGCTTTGGGCTATGATGAAGGGAGCATCATTGTTAAGCTTGGTCGGGAGGAACCT
GCCATGTCCATGGATGCCAATGGAAAGATAATTTGGGCCAAGCATTCAGAAGTCCAGCAGGCCAACCTAAAAGCAATGGGAGATGCTGAA
ATTAAAGATGGTGAAAGATTGCCACTGGCAGTAAAGGATATGGGCAGTTGTGAAATATACCCTCAGACTATTCAGCACAATCCTAATGGG
CGGTTTGTGGTGGTGTGTGGTGATGGGGAGTATATCATCTACACAGCAATGGCATTGAGAAACAAGAGCTTTGGATCTGCTCAGGAGTTT
GCATGGGCCCACGATTCTTCAGAGTATGCAATAAGAGAGAGCAACAGCATTGTAAAGATATTTAAGAACTTTAAGGAAAAAAAATCATTT
AAACCAGATTTTGGAGCAGAAAGTATCTACGGCGGCTTCTTATTGGGAGTCAGATCTGTAAATGGCTTAGCCTTCTATGACTGGGACAAT
ACAGAACTCATACGAAGAATTGAAATTCAGCCCAAACATATTTTCTGGTCTGACTCTGGAGAGCTAGTCTGTATTGCTACTGAGGAATCA
TTTTTTATCCTTAAGTATCTGTCAGAAAAAGTCTTGGCTGCACAGGAAACACATGAGGGAGTTACTGAAGATGGCATTGAAGATGCCTTT
GAGGTTCTTGGTGAGATTCAGGAAATTGTGAAAACAGGGCTTTGGGTAGGCGATTGCTTCATTTACACAAGTTCTGTGAACAGATTAAAT
TATTATGTTGGAGGAGAAATAGTCACCATTGCCCACTTGGACAGGACGATGTATCTCCTAGGCTACATTCCTAAAGACAACAGGCTTTAT
CTGGGGGATAAAGAATTGAACATCATTAGCTATTCCCTGCTGGTTTCAGTCCTGGAATACCAGACAGCTGTCATGCGGAGGGACTTTAGC
ATGGCTGATAAGGTCCTTCCTACCATTCCAAAAGAACAGAGGACCAGAGTTGCACACTTTTTGGAAAAGCAGGGCTTCAAGCAGCAAGCT
CTTACAGTATCCACAGATCCTGAGCATCGTTTTGAGCTTGCTCTTCAGCTTGGAGAGTTAAAAATTGCATACCAGTTAGCAGTGGAAGCA
GAGTCAGAACAGAAGTGGAAACAACTTGCTGAACTTGCCATTAGTAAATGTCAGTTTGGCCTAGCCCAGGAGTGCCTGCATCATGCACAG
GATTATGGGGGCCTGCTGCTTTTGGCCACTGCCTCTGGAAATGCTAATATGGTGAACAAGCTAGCAGAGGGTGCGGAGAGAGATGGCAAA
AATAATGTGGCATTCATGAGCTACTTTTTACAGGGCAAGGTTGATGCCTGCCTAGAGCTCTTAATTAGAACTGGACGGCTGCCAGAAGCT
GCCTTCTTGGCCCGAACTTACTTACCCAGTCAGGTTTCAAGGGTAGTGAAACTCTGGAGAGAGAATCTCTCAAAAGTCAATCAGAAAGCA
GCAGAATCCCTTGCTGACCCAACAGAGTATGAAAACCTGTTCCCTGGATTAAAAGAAGCCTTTGTTGTTGAAGAATGGGTGAAGGAAACA
CATGCTGATCTGTGGCCAGCCAAACAATACCCACTTGTCACGCCAAATGAAGAGAGAAATGTCATGGAAGAGGGAAAAGACTTTCAGCCC
TCAAGATCTACAGCTCAACAGGAACTTGATGGGAAACCTGCTTCTCCTACTCCGGTTATTGTGGCCTCCCACACAGCCAACAAAGAAGAA
AAGAGTTTACTCGAACTAGAAGTAGATTTGGATAATTTGGAATTAGAAGATATTGACACAACAGATATCAATCTGGATGAAGATATTTTG
GATGATTGACTGTAATGCTTTCCATTTACCTGACTAAACAGATCATTATTATATATAGGTATTGATTGCTACCCTGACCACAGTGCTTTG
GACTATGAGAAACTTCTTAGATTTTTATATGTAAATGCTGTGGACCACTGGGAGCACAATGCCCACATCATCTTAAGAAGAGTTTATGTG
CAGCATTTAAATCACTGTGTTTTCCTTGTTAACTAAAACAGACATGGGCTTTGATTTTTTTCATACTATTAGACCATATCTCATAAAACC
TTTTGAATTAATGAAGGTACTTGTTTCCTTTCTCAATAATGAAAATAGGCTTCTAGTTTTAGAAGGCTGAGCCGAAACTACACCTTGCCT
AGGGATCAGCCCCACTGTCTTTTCTTTGTATAACTAAATCTGCATTTTCAAATGTTGTCAATCACATTTTTCTTAGAGCTGAATATCCAG

>65370_65370_1_PIK3CB-COPB2_PIK3CB_chr3_138478015_ENST00000289153_COPB2_chr3_139102277_ENST00000333188_length(amino acids)=962AA_BP=57
MCFSFIMPPAMADILDIWAVDSQIASDGSIPVDFLLPTGIYIQLEVPREATISYIKQPLRLDIKRKLTARSDRVKSVDLHPTEPWMLASL
YNGSVCVWNHETQTLVKTFEVCDLPVRAAKFVARKNWVVTGADDMQIRVFNYNTLERVHMFEAHSDYIRCIAVHPTQPFILTSSDDMLIK
LWDWDKKWSCSQVFEGHTHYVMQIVINPKDNNQFASASLDRTIKVWQLGSSSPNFTLEGHEKGVNCIDYYSGGDKPYLISGADDRLVKIW
DYQNKTCVQTLEGHAQNVSCASFHPELPIIITGSEDGTVRIWHSSTYRLESTLNYGMERVWCVASLRGSNNVALGYDEGSIIVKLGREEP
AMSMDANGKIIWAKHSEVQQANLKAMGDAEIKDGERLPLAVKDMGSCEIYPQTIQHNPNGRFVVVCGDGEYIIYTAMALRNKSFGSAQEF
AWAHDSSEYAIRESNSIVKIFKNFKEKKSFKPDFGAESIYGGFLLGVRSVNGLAFYDWDNTELIRRIEIQPKHIFWSDSGELVCIATEES
FFILKYLSEKVLAAQETHEGVTEDGIEDAFEVLGEIQEIVKTGLWVGDCFIYTSSVNRLNYYVGGEIVTIAHLDRTMYLLGYIPKDNRLY
LGDKELNIISYSLLVSVLEYQTAVMRRDFSMADKVLPTIPKEQRTRVAHFLEKQGFKQQALTVSTDPEHRFELALQLGELKIAYQLAVEA
ESEQKWKQLAELAISKCQFGLAQECLHHAQDYGGLLLLATASGNANMVNKLAEGAERDGKNNVAFMSYFLQGKVDACLELLIRTGRLPEA
AFLARTYLPSQVSRVVKLWRENLSKVNQKAAESLADPTEYENLFPGLKEAFVVEEWVKETHADLWPAKQYPLVTPNEERNVMEEGKDFQP

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Fusion Gene PPI Analysis for PIK3CB-COPB2


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 PIK3CB-COPB2


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 PIK3CB-COPB2


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