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Fusion gene ID: 13689 |
FusionGeneSummary for FNDC3B_PIK3CA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FNDC3B_PIK3CA | Fusion gene ID: 13689 | Hgene | Tgene | Gene symbol | FNDC3B | PIK3CA | Gene ID | 64778 | 5290 |
| Gene name | fibronectin type III domain containing 3B | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| Synonyms | FAD104|PRO4979|YVTM2421 | CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha | |
| Cytomap | 3q26.31 | 3q26.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibronectin type III domain-containing protein 3BHCV NS5A-binding protein 37factor for adipocyte differentiation 104 | phosphatidylinositol 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 date | 20180519 | 20180523 | |
| UniProtAcc | Q53EP0 | P42336 | |
| Ensembl transtripts involved in fusion gene | ENST00000415807, ENST00000336824, ENST00000416957, ENST00000392699, ENST00000421757, ENST00000423424, ENST00000476794, | ENST00000263967, | |
| Fusion gene scores | * DoF score | 22 X 10 X 13=2860 | 5 X 4 X 4=80 |
| # samples | 24 | 6 | |
| ** MAII score | log2(24/2860*10)=-3.57490883605723 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: FNDC3B [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PIK3CA | GO:0016310 | phosphorylation | 25327288 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | UCEC | TCGA-BK-A56F-01A | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000415807 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| 5CDS-5UTR | ENST00000336824 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| 5CDS-5UTR | ENST00000416957 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| 5CDS-5UTR | ENST00000392699 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| 5CDS-5UTR | ENST00000421757 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| 5CDS-5UTR | ENST00000423424 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
| intron-5UTR | ENST00000476794 | ENST00000263967 | FNDC3B | chr3 | 171851336 | + | PIK3CA | chr3 | 178916538 | + |
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FusionProtFeatures for FNDC3B_PIK3CA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FNDC3B | PIK3CA |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FNDC3B_PIK3CA |
| 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 FNDC3B_PIK3CA |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| FNDC3B | ELAVL1, CAMK2D, TRAF2, TRIP13, TOX4, VAC14, SPINT2, RBFOX2, FAM46A, FAM189B, KLRG2, G3BP1 | PIK3CA | PIK3R3, ATR, RASGRP3, HRAS, RASD2, LCK, NOTCH1, ADAP1, DGKZ, ARHGEF1, GNAQ, KRAS, PIK3R1, IRS1, GSN, YWHAH, IRS4, SGK1, UBTF, NEDD9, SQSTM1, AMBP, ATPIF1, VARS2, DDX5, DNAJB6, FTL, ITIH1, RPS20, UFD1L, WDR5, TNFRSF1A, CD28, FASLG, IRS2, CBL, CD40, GRB2, PIK3R2, CRK, STAT1, SMAD2, SMAD3, ESR1, AKT1, EFNB2, PCBP1, NTRK1, BEX1, BEX2, IL13RA2, IL24, PSMC3IP, THRSP, TNFSF13, UMPS, HDAC1, TSPAN14, DPY30, APPL1, ERBB3, PDK1, CYTH3, CYTH2, TSSC1, CHEK1, RRM2, CDK9, HDAC6, BRAF, GNB1, HAVCR2, FLRT1, IL20RA, SUN2, TMEM52B, MANSC1, ZDHHC1, NLGN3, RNF19B, DEFA5, KIT, RAC1, PDGFRA, PTTG1, CSF1R |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FNDC3B_PIK3CA |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | PIK3CA | P42336 | DB00201 | Caffeine | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | small molecule | approved |
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RelatedDiseases for FNDC3B_PIK3CA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FNDC3B | C0022578 | Keratoconus | 1 | CTD_human |
| Hgene | FNDC3B | C0339573 | Glaucoma, Primary Open Angle | 1 | CTD_human |
| Tgene | PIK3CA | C2752042 | Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi | 17 | ORPHANET;UNIPROT |
| Tgene | PIK3CA | C1865285 | Megalencephaly cutis marmorata telangiectatica congenita | 15 | ORPHANET;UNIPROT |
| Tgene | PIK3CA | C1458155 | Mammary Neoplasms | 8 | CTD_human |
| Tgene | PIK3CA | C0022603 | Seborrheic keratosis | 4 | CTD_human;UNIPROT |
| Tgene | PIK3CA | C3554518 | COWDEN SYNDROME 5 | 3 | UNIPROT |
| Tgene | PIK3CA | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | PIK3CA | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | PIK3CA | C0007134 | Renal Cell Carcinoma | 1 | CTD_human;HPO |
| Tgene | PIK3CA | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | PIK3CA | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | PIK3CA | C0015923 | Fetal Alcohol Syndrome | 1 | PSYGENET |
| Tgene | PIK3CA | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | PIK3CA | C0020507 | Hyperplasia | 1 | CTD_human |
| Tgene | PIK3CA | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Tgene | PIK3CA | C0030849 | Penile Neoplasms | 1 | CTD_human |
| Tgene | PIK3CA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | PIK3CA | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | PIK3CA | C0038356 | Stomach Neoplasms | 1 | CTD_human;HPO |
| Tgene | PIK3CA | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | PIK3CA | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | PIK3CA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | PIK3CA | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| Tgene | PIK3CA | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
| Tgene | PIK3CA | C1261473 | Sarcoma | 1 | CTD_human |
| Tgene | PIK3CA | C1527249 | Colorectal Cancer | 1 | UNIPROT |
| Tgene | PIK3CA | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
| Tgene | PIK3CA | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
| Tgene | PIK3CA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
| Tgene | PIK3CA | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |
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