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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:FBXW11-PIK3CA (FusionGDB2 ID:HG23291TG5290)

Fusion Gene Summary for FBXW11-PIK3CA

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXW11-PIK3CA
Fusion gene ID: hg23291tg5290
HgeneTgene
Gene symbol

FBXW11

PIK3CA

Gene ID

23291

5290

Gene nameF-box and WD repeat domain containing 11phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
SynonymsBTRC2|BTRCP2|FBW1B|FBXW1B|Fbw11|HosCLAPO|CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha
Cytomap('FBXW11')('PIK3CA')

5q35.1

3q26.32

Type of geneprotein-codingprotein-coding
DescriptionF-box/WD repeat-containing protein 11F-box and WD repeats protein beta-TrCP2F-box and WD-40 domain protein 11F-box and WD-40 domain protein 1BF-box protein Fbw1bF-box/WD repeat-containing protein 1Bbeta-transducin repeat-containing protein 2homologphosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformPI3-kinase p110 subunit alphaphosphatidylinositol 3-kinase, catalytic, 110-KD, alphaphosphatidylinositol 3-kinase, catalytic, alpha polypeptidephosphatidylinositol-4,5-bisph
Modification date2020032920200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265094, ENST00000296933, 
ENST00000393802, ENST00000425623, 
ENST00000522891, 
Fusion gene scores* DoF score13 X 6 X 9=7025 X 4 X 5=100
# samples 137
** MAII scorelog2(13/702*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXW11 [Title/Abstract] AND PIK3CA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBXW11(171295614)-PIK3CA(178916538), # 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
HgeneFBXW11

GO:0000209

protein polyubiquitination

20347421

HgeneFBXW11

GO:0016567

protein ubiquitination

16885022

HgeneFBXW11

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

20347421

HgeneFBXW11

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

20347421

TgenePIK3CA

GO:0016310

phosphorylation

25327288



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-EQ-A4SO-01AFBXW11chr5

171295614

-PIK3CAchr3

178916538

+


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Fusion Gene ORF analysis for FBXW11-PIK3CA

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
3UTR-5UTRENST00000265094ENST00000263967FBXW11chr5

171295614

-PIK3CAchr3

178916538

+
3UTR-5UTRENST00000296933ENST00000263967FBXW11chr5

171295614

-PIK3CAchr3

178916538

+
3UTR-5UTRENST00000393802ENST00000263967FBXW11chr5

171295614

-PIK3CAchr3

178916538

+
3UTR-5UTRENST00000425623ENST00000263967FBXW11chr5

171295614

-PIK3CAchr3

178916538

+
intron-5UTRENST00000522891ENST00000263967FBXW11chr5

171295614

-PIK3CAchr3

178916538

+

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 FBXW11-PIK3CA


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)
FBXW11chr5171295613-PIK3CAchr3178916537+0.0001262850.99987376
FBXW11chr5171295613-PIK3CAchr3178916537+0.0001262850.99987376


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 FBXW11-PIK3CA


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/:171295614/:178916538)
- 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

- 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 FBXW11-PIK3CA


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 FBXW11-PIK3CA


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 FBXW11-PIK3CA


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 FBXW11-PIK3CA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXW11C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneFBXW11C2677504AUTISM, SUSCEPTIBILITY TO, 151GENOMICS_ENGLAND
HgeneFBXW11C3550704Abnormality of digit1GENOMICS_ENGLAND
HgeneFBXW11C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneFBXW11C4021812Abnormality of the head1GENOMICS_ENGLAND
HgeneFBXW11C4316870Abnormality of the eye1GENOMICS_ENGLAND
TgeneC0006142Malignant neoplasm of breast9CGI;CTD_human;UNIPROT
TgeneC0678222Breast Carcinoma8CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human8CTD_human
TgeneC1458155Mammary Neoplasms8CTD_human
TgeneC4704874Mammary Carcinoma, Human8CTD_human
TgeneC1865285Megalencephaly cutis marmorata telangiectatica congenita5GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2752042Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0158570Vascular anomaly2GENOMICS_ENGLAND
TgeneC0265552Congenital macrodactylia2GENOMICS_ENGLAND;UNIPROT
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC2751313CLAPO Syndrome2GENOMICS_ENGLAND;UNIPROT
TgeneC3554518COWDEN SYNDROME 52CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0015923Fetal Alcohol Syndrome1PSYGENET
TgeneC0018273Growth Disorders1CTD_human
TgeneC0018553Hamartoma Syndrome, Multiple1ORPHANET
TgeneC0020507Hyperplasia1CTD_human
TgeneC0022603Seborrheic keratosis1CTD_human;UNIPROT
TgeneC0024623Malignant neoplasm of stomach1CGI;CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0030849Penile Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038356Stomach Neoplasms1CGI;CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0152427Polydactyly1GENOMICS_ENGLAND
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0153601Malignant neoplasm of penis1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205944Sarcoma, Epithelioid1CTD_human
TgeneC0205945Sarcoma, Spindle Cell1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0242698Ventricular Dysfunction, Left1CTD_human
TgeneC0279607Adult Hepatocellular Carcinoma1ORPHANET
TgeneC0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0431380Cortical Dysplasia1CTD_human
TgeneC0431391Hemimegalencephaly1ORPHANET
TgeneC1112155Hereditary non-polyposis colorectal cancer syndrome1ORPHANET
TgeneC1140680Malignant neoplasm of ovary1CGI;CTD_human;UNIPROT
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1261473Sarcoma1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer1ORPHANET
TgeneC1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome1CTD_human
TgeneC1955869Malformations of Cortical Development1CTD_human
TgeneC2239176Liver carcinoma1CGI;CTD_human;UNIPROT
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC2985290Fetal Alcohol Spectrum Disorders1PSYGENET
TgeneC4721806Carcinoma, Basal Cell1CTD_human