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Fusion gene ID: 24621 |
FusionGeneSummary for NOTCH1_EXD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NOTCH1_EXD3 | Fusion gene ID: 24621 | Hgene | Tgene | Gene symbol | NOTCH1 | EXD3 | Gene ID | 4851 | 54932 |
| Gene name | notch 1 | exonuclease 3'-5' domain containing 3 | |
| Synonyms | AOS5|AOVD1|TAN1|hN1 | mut-7 | |
| Cytomap | 9q34.3 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatedtranslocation-associated notch protein TAN-1 | exonuclease mut-7 homologexonuclease 3'-5' domain-containing protein 3probable exonuclease mut-7 homologtesticular tissue protein Li 125 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P46531 | Q8N9H8 | |
| Ensembl transtripts involved in fusion gene | ENST00000277541, ENST00000491649, | ENST00000342129, ENST00000340951, ENST00000479452, ENST00000475006, ENST00000465160, | |
| Fusion gene scores | * DoF score | 11 X 9 X 10=990 | 9 X 6 X 7=378 |
| # samples | 12 | 10 | |
| ** MAII score | log2(12/990*10)=-3.04439411935845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/378*10)=-1.91838623444635 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NOTCH1 [Title/Abstract] AND EXD3 [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 | NOTCH1 | GO:0007050 | cell cycle arrest | 11306509 |
| Hgene | NOTCH1 | GO:0007219 | Notch signaling pathway | 11306509 |
| Hgene | NOTCH1 | GO:0008284 | positive regulation of cell proliferation | 17849174 |
| Hgene | NOTCH1 | GO:0008285 | negative regulation of cell proliferation | 11306509|20616313 |
| Hgene | NOTCH1 | GO:0010629 | negative regulation of gene expression | 11306509 |
| Hgene | NOTCH1 | GO:0010812 | negative regulation of cell-substrate adhesion | 16501043 |
| Hgene | NOTCH1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 |
| Hgene | NOTCH1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20616313 |
| Hgene | NOTCH1 | GO:0045967 | negative regulation of growth rate | 11306509 |
| Hgene | NOTCH1 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
| Hgene | NOTCH1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
| Hgene | NOTCH1 | GO:0071372 | cellular response to follicle-stimulating hormone stimulus | 20613903 |
| Hgene | NOTCH1 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 |
| Hgene | NOTCH1 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 20616313 |
| 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 | STAD | TCGA-VQ-A8DU-01A | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| * 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 | ENST00000277541 | ENST00000342129 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| 5CDS-5UTR | ENST00000277541 | ENST00000340951 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| 5CDS-5UTR | ENST00000277541 | ENST00000479452 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| 5CDS-5UTR | ENST00000277541 | ENST00000475006 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| 5CDS-5UTR | ENST00000277541 | ENST00000465160 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| intron-5UTR | ENST00000491649 | ENST00000342129 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| intron-5UTR | ENST00000491649 | ENST00000340951 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| intron-5UTR | ENST00000491649 | ENST00000479452 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| intron-5UTR | ENST00000491649 | ENST00000475006 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
| intron-5UTR | ENST00000491649 | ENST00000465160 | NOTCH1 | chr9 | 139440178 | - | EXD3 | chr9 | 140289856 | - |
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FusionProtFeatures for NOTCH1_EXD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NOTCH1 | EXD3 |
| Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs. Involved in angiogenesis; negatively regulatesendothelial cell proliferation and migration and angiogenicsprouting. Involved in the maturation of both CD4+ and CD8+ cellsin the thymus. Important for follicular differentiation andpossibly cell fate selection within the follicle. Duringcerebellar development, functions as a receptor for neuronal DNERand is involved in the differentiation of Bergmann glia. Repressesneuronal and myogenic differentiation. May play an essential rolein postimplantation development, probably in some aspect of cellspecification and/or differentiation. May be involved in mesodermdevelopment, somite formation and neurogenesis. May enhance HIF1Afunction by sequestering HIF1AN away from HIF1A. Required for theTHBS4 function in regulating protective astrogenesis from thesubventricular zone (SVZ) niche after injury. Involved indetermination of left/right symmetry by modulating the balancebetween motile and immotile (sensory) cilia at the left-rightorganiser (LRO). {ECO:0000269|PubMed:20616313}. |
| 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 NOTCH1_EXD3 |
| 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 NOTCH1_EXD3 |
| 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 |
| NOTCH1 | SMAD3, LCK, PIK3CA, CNTN1, YY1, RBPJ, DTX1, SNW1, NOTCH3, XRCC6, RELA, NFKB1, DLL1, JAG1, JAG2, LEF1, NUMB, GSK3B, NOTCH1, MAML1, NOV, PSEN1, FBXW7, MAML2, MAML3, EP300, AKT1, CBL, CTNNB1, CACNA1A, SNAI1, MDM2, RUNX3, HEY1, HEY2, KAT5, APP, APBB1, EIF3F, EPN1, ILK, GFI1B, NOTCH2, PRKAA1, MAPK1, LIMK2, ROCK1, TAB1, MOB1A, HCLS1, RANBP9, RANBP10, VAV1, ARHGEF2, USP7, USP11, USP15, PPP2CA, PPP2R1A, PPP2R2A, PPP6R1, PPP6R3, ARIH1, ARIH2, TRIM32, ANAPC7, ANAPC1, CDC23, CDC27, ANAPC5, STK38, GPS1, CAND1, SLFN5, SLFN11, RLTPR, LRCH1, WDR11, NCKAP1L, ARMC8, ERH, WDR6, C18orf8, PTBP3, CCZ1B, SMARCA4, PBRM1, SMARCC2, SMARCC1, HLTF, SMARCA5, SMC1A, SMC3, PDS5A, MAU2, SMCHD1, TRIM28, WIZ, RB1, PHF8, RNF40, CHD4, RBBP4, GATAD2B, HDAC1, KDM1A, RING1, RNF2, FRYL, HCFC1, C14orf166, ASCC3, SRRT, TBL1XR1, WWTR1, DDX17, HTATSF1, MED23, MED25, BCL11B, IKZF1, IKZF2, IKZF3, TCF12, RUNX1, SMAD9, ZBTB2, ZBED4, RFX1, IFI16, PRKDC, PARP1, TOP2B, MCM3, MCM5, RFC1, RFC4, MMS19, RIF1, PRPF6, PRPF8, PRPF19, RBM10, DHX15, DHX8, SART1, PTBP1, CNOT1, XPO5, NBEA, LRBA, MDN1, TNPO1, KPNB1, IPO5, TRAPPC9, TRAPPC10, CCT3, CCT6A, CCT8, VPS39, VPS11, KIF3A, KIF2A, PPP2CB, CAMK4, XIAP, ITCH, NEDD4L, ARRB1, EGFL7, LATS2, WWP1, TGFBR1, USP12, ANKRD44, PTEN, TMEM17, RND3, PRKCD, RAB5A, RAB7A, LAMP1, HGS, ZMIZ1, MAP1LC3A, SQSTM1, MAP3K1, CDH1, CTDSPL, DLK2, FANCA, FANCC, FANCF, FANCG, MAGEA1, TRIM25, ARL6IP5, B3GALT4, LINC00260, CEP57L1, C9orf62, COL4A6, EXT1, FAM185A, KIAA1191, LNX2, RHOA, GOLGA2, HMGN5, MAGED1, GOPC, POU2AF1, TLE3, DAZAP2, KCTD10, CUL3, DTX4, ADAM10 | EXD3 | DAZAP2, PLSCR1, CUL1, EXD3 |
| - 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 NOTCH1_EXD3 |
| 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 |
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RelatedDiseases for NOTCH1_EXD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NOTCH1 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 4 | CTD_human |
| Hgene | NOTCH1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | NOTCH1 | C0000768 | Congenital Abnormality | 1 | CTD_human |
| Hgene | NOTCH1 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | NOTCH1 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | NOTCH1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | NOTCH1 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Hgene | NOTCH1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | NOTCH1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | NOTCH1 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | NOTCH1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | NOTCH1 | C0023492 | Leukemia, T-Cell | 1 | CTD_human |
| Hgene | NOTCH1 | C0024299 | Lymphoma | 1 | CTD_human |
| Hgene | NOTCH1 | C0027765 | nervous system disorder | 1 | CTD_human |
| Hgene | NOTCH1 | C0036439 | Scoliosis, unspecified | 1 | CTD_human |
| Hgene | NOTCH1 | C0038002 | Splenomegaly | 1 | CTD_human |
| Hgene | NOTCH1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | NOTCH1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | NOTCH1 | C0428791 | Aortic valve calcification | 1 | CTD_human |
| Hgene | NOTCH1 | C0887833 | Carcinoma, Pancreatic Ductal | 1 | CTD_human |
| Hgene | NOTCH1 | C4014970 | ADAMS-OLIVER SYNDROME 5 | 1 | UNIPROT |
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