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Fusion gene ID: 5570 |
FusionGeneSummary for CASC3_ERBB2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CASC3_ERBB2 | Fusion gene ID: 5570 | Hgene | Tgene | Gene symbol | CASC3 | ERBB2 | Gene ID | 22794 | 2064 |
Gene name | CASC3, exon junction complex subunit | erb-b2 receptor tyrosine kinase 2 | |
Synonyms | BTZ|MLN51 | CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1 | |
Cytomap | 17q21.1 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | protein CASC3MLN 51barentszcancer susceptibility 3cancer susceptibility candidate 3cancer susceptibility candidate gene 3 proteinmetastatic lymph node 51metastatic lymph node gene 51 proteinprotein barentsz | receptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | O15234 | P04626 | |
Ensembl transtripts involved in fusion gene | ENST00000264645, | ENST00000584601, ENST00000406381, ENST00000541774, ENST00000445658, ENST00000540147, ENST00000584450, ENST00000269571, ENST00000578199, ENST00000540042, ENST00000584888, | |
Fusion gene scores | * DoF score | 15 X 7 X 8=840 | 17 X 14 X 7=1666 |
# samples | 17 | 18 | |
** MAII score | log2(17/840*10)=-2.30485458152842 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1666*10)=-3.21031958903587 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CASC3 [Title/Abstract] AND ERBB2 [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 | ERBB2 | GO:0007165 | signal transduction | 10572067 |
Tgene | ERBB2 | GO:0007166 | cell surface receptor signaling pathway | 9685399 |
Tgene | ERBB2 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 7514177 |
Tgene | ERBB2 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 |
Tgene | ERBB2 | GO:0032886 | regulation of microtubule-based process | 20937854 |
Tgene | ERBB2 | GO:0042060 | wound healing | 12646923 |
Tgene | ERBB2 | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
Tgene | ERBB2 | GO:0045785 | positive regulation of cell adhesion | 7556068 |
Tgene | ERBB2 | GO:0045945 | positive regulation of transcription by RNA polymerase III | 19372587 |
Tgene | ERBB2 | GO:0046777 | protein autophosphorylation | 7556068 |
Tgene | ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
Tgene | ERBB2 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
Tgene | ERBB2 | GO:0090314 | positive regulation of protein targeting to membrane | 20010870 |
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 | LUSC | TCGA-L3-A524-01A | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
* 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 | ENST00000264645 | ENST00000584601 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-5UTR | ENST00000264645 | ENST00000406381 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000541774 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000445658 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000540147 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000584450 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000269571 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-5UTR | ENST00000264645 | ENST00000578199 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000540042 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
5CDS-intron | ENST00000264645 | ENST00000584888 | CASC3 | chr17 | 38297860 | + | ERBB2 | chr17 | 37844949 | + |
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FusionProtFeatures for CASC3_ERBB2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CASC3 | ERBB2 |
Core component of the splicing-dependent multiproteinexon junction complex (EJC) deposited at splice junctions onmRNAs. The EJC is a dynamic structure consisting of core proteinsand several peripheral nuclear and cytoplasmic associated factorsthat join the complex only transiently either during EJC assemblyor during subsequent mRNA metabolism. The EJC marks the positionof the exon-exon junction in the mature mRNA for the geneexpression machinery and the core components remain bound tospliced mRNAs throughout all stages of mRNA metabolism therebyinfluencing downstream processes including nuclear mRNA export,subcellular mRNA localization, translation efficiency andnonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress responseby participating in cytoplasmic stress granules assembly and byfavoring cell recovery following stress. Component of thedendritic ribonucleoprotein particles (RNPs) in hippocampalneurons. May play a role in mRNA transport. Binds spliced mRNA insequence-independent manner, 20-24 nucleotides upstream of mRNAexon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer.{ECO:0000269|PubMed:17375189, ECO:0000269|PubMed:17652158}. | Protein tyrosine kinase that is part of several cellsurface receptor complexes, but that apparently needs a coreceptorfor ligand binding. Essential component of a neuregulin-receptorcomplex, although neuregulins do not interact with it alone. GP30is a potential ligand for this receptor. Regulates outgrowth andstabilization of peripheral microtubules (MTs). Upon ERBB2activation, the MEMO1-RHOA-DIAPH1 signaling pathway elicits thephosphorylation and thus the inhibition of GSK3B at cell membrane.This prevents the phosphorylation of APC and CLASP2, allowing itsassociation with the cell membrane. In turn, membrane-bound APCallows the localization of MACF1 to the cell membrane, which isrequired for microtubule capture and stabilization. {ECO:0000305}. In the nucleus is involved in transcriptionalregulation. Associates with the 5'-TCAAATTC-3' sequence in thePTGS2/COX-2 promoter and activates its transcription. Implicatedin transcriptional activation of CDKN1A; the function involvesSTAT3 and SRC. Involved in the transcription of rRNA genes by RNAPol I and enhances protein synthesis and cell growth.{ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:15380516,ECO:0000269|PubMed:21555369}. |
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 CASC3_ERBB2 |
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 CASC3_ERBB2 |
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 |
CASC3 | ELAVL1, CAND1, EIF4A3, MAGOH, CDK6, GRB2, NXF1, BMI1, VTI1B, TRA2A, PRR11, LUC7L, LUC7L2, SNIP1, UPF3B, AKT1, APC, CASP8, CDKN2A, ESR2, FGFR4, NBN, PHB, PTPN1, PTPRJ, EWSR1, XPO1, LLGL2, RBM8A, MED12, CHST15, KDM1B, UPF3A, WIBG, PNN, ELAVL2, GSPT2, U2AF2, CDX1, APOBEC3D, C11orf57, CLK2, PRDM5, CELF5, RBM3 | ERBB2 | SHC1, SH3BGRL, PTPN11, GRB2, MUC1, CTNNB1, ERBB2, CD82, EGF, PAK1, ERBB2IP, PICK1, PIK3R2, DLG4, ERBB4, NRG1, JUP, STAT3, SRC, JAK2, HSP90B1, CD44, GRB7, PLCG1, IL6ST, OSMR, PTK2B, HSP90AA1, ELF3, EGFR, ERBB3, HDAC6, LRIG1, STUB1, HSPA4, IGF1R, CUL5, ESR1, PPP1R13B, H2AFY, PIK3R1, PIN1, PTK6, ACTB, POLR1B, KPNB1, XPO1, CLTC, AP2B1, EEA1, APBB1, SH2B2, IRS4, SH2D1B, SOCS1, NCK2, DAB1, GRAP2, APBB3, ABL1, FGR, CHN1, FER, PLCG2, RASA1, JAK1, IRS1, STAT1, MATK, TEC, TXK, ABL2, SYK, CRK, CRKL, BLK, BMX, VAV2, SH3BP2, SHC2, ITK, SLA, MAPK8IP2, RIN1, BCAR3, TENC1, TNS3, DOK6, SH2D5, SUPT6H, ANKS1B, CLNK, DOK4, BLNK, RIN2, SHC3, PIK3R3, ANKS1A, VAV1, DOK1, SH2D3A, SLA2, SH2D2A, CISH, VAV3, MAPK8IP1, SH2B3, TLN1, SRPK1, CBL, ERRFI1, FRS3, USP2, NXF1, DTWD2, TGFBR2, NAALADL2, LPAR6, VSIG4, PTGER3, CYP17A1, GLCE, IL13RA2, KLK5, LYPD3, NAT2, PRDM14, PSMC3IP, RHOBTB2, THRSP, ANXA6, BAI1, CLCN6, GMPR2, HDLBP, IARS, MTCH1, MUCL1, PHF23, POLD2, PSAP, STK24, TCEAL2, ATP6AP1, TTC9B, UTP18, ATP1A1, EEF1G, TNPO1, PC, SURF4, TFRC, VAPB, PTDSS1, HPSE, ZNF280C, CCDC88A, ZNF622, BTC, PTK2, TGFA, BCAR1, ESRRB, CDC37, EZR, RDX, ITGAV, L1CAM, ITGB1, CHEK2, TOP1, RRM2, CDK4, CDH2, CDH1, PTPN6, PTPRR, PTPRT, PTPRU, PTPRA, PTPRH, MPZL2, SSH1, CD79B, MAS1, HAVCR2, IL4R, PPM1A, PPM1F, ILKAP, DUSP14, DUSP18, DUSP19, STYX, GAB1 |
- 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 CASC3_ERBB2 |
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 | ERBB2 | P04626 | DB06366 | Pertuzumab | Receptor tyrosine-protein kinase erbB-2 | biotech | approved |
Tgene | ERBB2 | P04626 | DB08916 | Afatinib | Receptor tyrosine-protein kinase erbB-2 | small molecule | approved |
Tgene | ERBB2 | P04626 | DB00072 | Trastuzumab | Receptor tyrosine-protein kinase erbB-2 | biotech | approved|investigational |
Tgene | ERBB2 | P04626 | DB01259 | Lapatinib | Receptor tyrosine-protein kinase erbB-2 | small molecule | approved|investigational |
Tgene | ERBB2 | P04626 | DB05773 | Trastuzumab emtansine | Receptor tyrosine-protein kinase erbB-2 | biotech | approved|investigational |
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RelatedDiseases for CASC3_ERBB2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ERBB2 | C1458155 | Mammary Neoplasms | 40 | CTD_human |
Tgene | ERBB2 | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
Tgene | ERBB2 | C0038356 | Stomach Neoplasms | 3 | CTD_human |
Tgene | ERBB2 | C0001418 | Adenocarcinoma | 2 | CTD_human |
Tgene | ERBB2 | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
Tgene | ERBB2 | C0919267 | ovarian neoplasm | 2 | CTD_human |
Tgene | ERBB2 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
Tgene | ERBB2 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | ERBB2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | ERBB2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Tgene | ERBB2 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
Tgene | ERBB2 | C0017185 | Gastrointestinal Neoplasms | 1 | CTD_human |
Tgene | ERBB2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | ERBB2 | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
Tgene | ERBB2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Tgene | ERBB2 | C0025149 | Medulloblastoma | 1 | CTD_human |
Tgene | ERBB2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Tgene | ERBB2 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
Tgene | ERBB2 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Tgene | ERBB2 | C0030354 | Papilloma | 1 | CTD_human |
Tgene | ERBB2 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Tgene | ERBB2 | C0596263 | Carcinogenesis | 1 | CTD_human |
Tgene | ERBB2 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |