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Fusion gene ID: 40539 |
FusionGeneSummary for UBE4B_PIK3CD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UBE4B_PIK3CD | Fusion gene ID: 40539 | Hgene | Tgene | Gene symbol | UBE4B | PIK3CD | Gene ID | 10277 | 22883 |
| Gene name | ubiquitination factor E4B | calsyntenin 1 | |
| Synonyms | E4|HDNB1|UBOX3|UFD2|UFD2A | ALC-ALPHA|CDHR12|CST-1|CSTN1|PIK3CD|XB31alpha|alcalpha1|alcalpha2 | |
| Cytomap | 1p36.22 | 1p36.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ubiquitin conjugation factor E4 BRING-type E3 ubiquitin transferase E4 BUFD2A-III/UBE4B-III splice isoformhomologous to yeast UFD2homozygously deleted in neuroblastoma-1ubiquitin-fusion degradation protein 2ubiquitination factor E4B (UFD2 homolog, y | calsyntenin-1alcadein-alphaalzheimer-related cadherin-like proteincadherin-related family member 12non-classical cadherin XB31alpha | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95155 | O00329 | |
| Ensembl transtripts involved in fusion gene | ENST00000253251, ENST00000377157, ENST00000343090, ENST00000377153, ENST00000475795, | ENST00000536656, ENST00000377346, ENST00000484851, ENST00000361110, ENST00000543390, | |
| Fusion gene scores | * DoF score | 12 X 8 X 8=768 | 5 X 5 X 3=75 |
| # samples | 14 | 5 | |
| ** MAII score | log2(14/768*10)=-2.45567948377619 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: UBE4B [Title/Abstract] AND PIK3CD [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 |
| Hgene | UBE4B | GO:0008626 | granzyme-mediated apoptotic signaling pathway | 11802788 |
| Hgene | UBE4B | GO:0009411 | response to UV | 11802788 |
| Hgene | UBE4B | GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | 23509263 |
| 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 | LD | OV | TCGA-24-2026-01A | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| * 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 | ENST00000253251 | ENST00000536656 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-5UTR | ENST00000253251 | ENST00000377346 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-3UTR | ENST00000253251 | ENST00000484851 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000253251 | ENST00000361110 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000253251 | ENST00000543390 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5UTR-5UTR | ENST00000377157 | ENST00000536656 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5UTR-5UTR | ENST00000377157 | ENST00000377346 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5UTR-3UTR | ENST00000377157 | ENST00000484851 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5UTR-intron | ENST00000377157 | ENST00000361110 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5UTR-intron | ENST00000377157 | ENST00000543390 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-5UTR | ENST00000343090 | ENST00000536656 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-5UTR | ENST00000343090 | ENST00000377346 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-3UTR | ENST00000343090 | ENST00000484851 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000343090 | ENST00000361110 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000343090 | ENST00000543390 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-5UTR | ENST00000377153 | ENST00000536656 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-5UTR | ENST00000377153 | ENST00000377346 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-3UTR | ENST00000377153 | ENST00000484851 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000377153 | ENST00000361110 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| 5CDS-intron | ENST00000377153 | ENST00000543390 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| intron-5UTR | ENST00000475795 | ENST00000536656 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| intron-5UTR | ENST00000475795 | ENST00000377346 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| intron-3UTR | ENST00000475795 | ENST00000484851 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| intron-intron | ENST00000475795 | ENST00000361110 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
| intron-intron | ENST00000475795 | ENST00000543390 | UBE4B | chr1 | 10093752 | + | PIK3CD | chr1 | 9751525 | + |
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FusionProtFeatures for UBE4B_PIK3CD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UBE4B | PIK3CD |
| Phosphoinositide-3-kinase (PI3K) that phosphorylatesPftdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generatephosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a keyrole by recruiting PH domain-containing proteins to the membrane,including AKT1 and PDPK1, activating signaling cascades involvedin cell growth, survival, proliferation, motility and morphology.Mediates immune responses. Plays a role in B-cell development,proliferation, migration, and function. Required for B-cellreceptor (BCR) signaling. Mediates B-cell proliferation responseto anti-IgM, anti-CD40 and IL4 stimulation. Promotes cytokineproduction in response to TLR4 and TLR9. Required for antibodyclass switch mediated by TLR9. Involved in the antigenpresentation function of B-cells. Involved in B-cell chemotaxis inresponse to CXCL13 and sphingosine 1-phosphate (S1P). Required forproliferation, signaling and cytokine production of naive,effector and memory T-cells. Required for T-cell receptor (TCR)signaling. Mediates TCR signaling events at the immune synapse.Activation by TCR leads to antigen-dependent memory T-cellmigration and retention to antigenic tissues. Together with PIK3CGparticipates in T-cell development. Contributes to T-helper cellexpansion and differentiation. Required for T-cell migrationmediated by homing receptors SELL/CD62L, CCR7 and S1PR1 andantigen dependent recruitment of T-cells. Together with PIK3CG isinvolved in natural killer (NK) cell development and migrationtowards the sites of inflammation. Participates in NK cellreceptor activation. Have a role in NK cell maturation andcytokine production. Together with PIK3CG is involved inneutrophil chemotaxis and extravasation. Together with PIK3CGparticipates in neutrophil respiratory burst. Have important rolesin mast-cell development and mast cell mediated allergic response.Involved in stem cell factor (SCF)-mediated proliferation,adhesion and migration. Required for allergen-IgE-induceddegranulation and cytokine release. The lipid kinase activity isrequired for its biological function. Isoform 2 may be involved instabilizing total RAS levels, resulting in increased ERKphosphorylation and increased PI3K activity.{ECO:0000269|PubMed:20081091, ECO:0000269|PubMed:22020336}. |
| 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 UBE4B_PIK3CD |
| 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 UBE4B_PIK3CD |
| 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 |
| UBE4B | TP73, VCP, ATXN3, XPC, UBE2D3, UBE4B, CBL, UBE2D2, MDM2, TP53, UBXN1, VAV2, ELAVL1, FEZ1, TP63, UBL7, USP34, NDUFA2, VPS26A, SSSCA1, SRPRB, ZPR1, ATP6V1F, VPS36, AHCYL1, MRPL53, VPS35, UBE2D1, UBQLN1, IGBP1, TTC9C, UBE2C, VPS4B, PSMB1, USP9X, UBXN7, ZFYVE19, UBE2V1, UFM1, SULT1A1, SBDS, ZRANB2, TRIP6, UCHL3, THY1, NDUFA7, UBA6, SF3B4, PPIF, HDLBP, SCO2, SARNP, UBE2L3, VPS29, TTK, CDC27, CDKN2A, NUDCD3, NUSAP1, PDE3A, RBM12, HGS, STAM, TRIP12, FBXW11, RAD23A, BTRC, FOXK1, STUB1, PCID2, TTC4, NTRK1, ESR1, TMEM165, CDC25A, RAD23B, TRIM25 | PIK3CD | ASCC2, HRAS, PIK3R2, PIK3R1, PIK3CG, TNIP1, CRK, TAGLN, AKT2, PIK3R3 |
| - 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 UBE4B_PIK3CD |
| 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 | PIK3CD | O00329 | DB00201 | Caffeine | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | small molecule | approved |
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RelatedDiseases for UBE4B_PIK3CD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PIK3CD | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | PIK3CD | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Tgene | PIK3CD | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
| Tgene | PIK3CD | C3714976 | ACTIVATED PI3K-DELTA SYNDROME | 1 | ORPHANET;UNIPROT |
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