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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9657

FusionGeneSummary for DDX5_PIK3CA

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX5_PIK3CA
Fusion gene ID: 9657
HgeneTgene
Gene symbol

DDX5

PIK3CA

Gene ID

1655

5290

Gene nameDEAD-box helicase 5phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
SynonymsG17P1|HLR1|HUMP68|p68CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha
Cytomap

17q23.3

3q26.32

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX5ATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box helicase 5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA hphosphatidylinositol 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 date2018052220180523
UniProtAcc

P17844

P42336

Ensembl transtripts involved in fusion geneENST00000225792, ENST00000450599, 
ENST00000578804, ENST00000580026, 
ENST00000263967, 
Fusion gene scores* DoF score14 X 13 X 4=7285 X 4 X 4=80
# samples 146
** MAII scorelog2(14/728*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX5 [Title/Abstract] AND PIK3CA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneDDX5

GO:0000122

negative regulation of transcription by RNA polymerase II

15298701

HgeneDDX5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

21343338

HgeneDDX5

GO:0000956

nuclear-transcribed mRNA catabolic process

23788676

TgenePIK3CA

GO:0016310

phosphorylation

25327288


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CV347577DDX5chr17

62498313

-PIK3CAchr3

178947888

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000225792ENST00000263967DDX5chr17

62498313

-PIK3CAchr3

178947888

+
intron-3CDSENST00000450599ENST00000263967DDX5chr17

62498313

-PIK3CAchr3

178947888

+
intron-3CDSENST00000578804ENST00000263967DDX5chr17

62498313

-PIK3CAchr3

178947888

+
intron-3CDSENST00000580026ENST00000263967DDX5chr17

62498313

-PIK3CAchr3

178947888

+

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FusionProtFeatures for DDX5_PIK3CA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDX5

P17844

PIK3CA

P42336

Involved in the alternative regulation of pre-mRNAsplicing; its RNA helicase activity is necessary for increasingtau exon 10 inclusion and occurs in a RBM4-dependent manner. Bindsto the tau pre-mRNA in the stem-loop region downstream of exon 10.The rate of ATP hydrolysis is highly stimulated by single-strandedRNA. Involved in transcriptional regulation; the function isindependent of the RNA helicase activity. Transcriptionalcoactivator for androgen receptor AR but probably not ESR1.Synergizes with DDX17 and SRA1 RNA to activate MYOD1transcriptional activity and involved in skeletal muscledifferentiation. Transcriptional coactivator for p53/TP53 andinvolved in p53/TP53 transcriptional response to DNA damage andp53/TP53-dependent apoptosis. Transcriptional coactivator forRUNX2 and involved in regulation of osteoblast differentiation.Acts as transcriptional repressor in a promoter-specific manner;the function probably involves association with histonedeacetylases, such as HDAC1. As component of a large PER complexis involved in the inhibition of 3' transcriptional termination ofcircadian target genes such as PER1 and NR1D1 and the control ofthe circadian rhythms. {ECO:0000269|PubMed:12527917,ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:15660129,ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17960593,ECO:0000269|PubMed:18829551, ECO:0000269|PubMed:19718048,ECO:0000269|PubMed:21343338}. Phosphoinositide-3-kinase (PI3K) that phosphorylatesPtdIns (Phosphatidylinositol), PtdIns4P (Phosphatidylinositol 4-phosphate) and PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate(PIP3). PIP3 plays a key role by recruiting PH domain-containingproteins to the membrane, including AKT1 and PDPK1, activatingsignaling cascades involved in cell growth, survival,proliferation, motility and morphology. Participates in cellularsignaling in response to various growth factors. Involved in theactivation of AKT1 upon stimulation by receptor tyrosine kinasesligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved insignaling via insulin-receptor substrate (IRS) proteins. Essentialin endothelial cell migration during vascular development throughVEGFA signaling, possibly by regulating RhoA activity. Requiredfor lymphatic vasculature development, possibly by binding to RASand by activation by EGF and FGF2, but not by PDGF. Regulatesinvadopodia formation through the PDPK1-AKT1 pathway. Participatesin cardiomyogenesis in embryonic stem cells through a AKT1pathway. Participates in vasculogenesis in embryonic stem cellsthrough PDK1 and protein kinase C pathway. Also has serine-proteinkinase activity: phosphorylates PIK3R1 (p85alpha regulatorysubunit), EIF4EBP1 and HRAS. Plays a role in the positiveregulation of phagocytosis and pinocytosis (By similarity).{ECO:0000250|UniProtKB:P42337, ECO:0000269|PubMed:21708979,ECO:0000269|PubMed:26593112}.

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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FusionGeneSequence for DDX5_PIK3CA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DDX5_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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RelatedDrugs for DDX5_PIK3CA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneDDX5P17844DB11638ArtenimolProbable ATP-dependent RNA helicase DDX5small moleculeapproved|investigational
TgenePIK3CAP42336DB00201CaffeinePhosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoformsmall moleculeapproved

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RelatedDiseases for DDX5_PIK3CA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX5C0014175Endometriosis1CTD_human
TgenePIK3CAC2752042Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi17ORPHANET;UNIPROT
TgenePIK3CAC1865285Megalencephaly cutis marmorata telangiectatica congenita15ORPHANET;UNIPROT
TgenePIK3CAC1458155Mammary Neoplasms8CTD_human
TgenePIK3CAC0022603Seborrheic keratosis4CTD_human;UNIPROT
TgenePIK3CAC3554518COWDEN SYNDROME 53UNIPROT
TgenePIK3CAC0001418Adenocarcinoma1CTD_human
TgenePIK3CAC0007117Basal cell carcinoma1CTD_human
TgenePIK3CAC0007134Renal Cell Carcinoma1CTD_human;HPO
TgenePIK3CAC0007137Squamous cell carcinoma1CTD_human
TgenePIK3CAC0010606Adenoid Cystic Carcinoma1CTD_human
TgenePIK3CAC0015923Fetal Alcohol Syndrome1PSYGENET
TgenePIK3CAC0018273Growth Disorders1CTD_human
TgenePIK3CAC0020507Hyperplasia1CTD_human
TgenePIK3CAC0026640Mouth Neoplasms1CTD_human
TgenePIK3CAC0030849Penile Neoplasms1CTD_human
TgenePIK3CAC0033578Prostatic Neoplasms1CTD_human
TgenePIK3CAC0036341Schizophrenia1PSYGENET
TgenePIK3CAC0038356Stomach Neoplasms1CTD_human;HPO
TgenePIK3CAC0043094Weight Gain1CTD_human
TgenePIK3CAC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgenePIK3CAC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgenePIK3CAC0279628Adenocarcinoma Of Esophagus1CTD_human
TgenePIK3CAC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgenePIK3CAC1261473Sarcoma1CTD_human
TgenePIK3CAC1527249Colorectal Cancer1UNIPROT
TgenePIK3CAC1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome1CTD_human
TgenePIK3CAC1955869Malformations of Cortical Development1CTD_human
TgenePIK3CAC2931822Nasopharyngeal carcinoma1CTD_human
TgenePIK3CAC2985290Fetal Alcohol Spectrum Disorders1PSYGENET