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Fusion gene ID: 24643 |
FusionGeneSummary for NOTCH2_SLC44A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NOTCH2_SLC44A1 | Fusion gene ID: 24643 | Hgene | Tgene | Gene symbol | NOTCH2 | SLC44A1 | Gene ID | 4853 | 23446 |
| Gene name | notch 2 | solute carrier family 44 member 1 | |
| Synonyms | AGS2|HJCYS|hN2 | CD92|CDW92|CHTL1|CTL1 | |
| Cytomap | 1p12 | 9q31.1-q31.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurogenic locus notch homolog protein 2Notch homolog 2 | choline transporter-like protein 1CDW92 antigensolute carrier family 44 (choline transporter), member 1 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q04721 | Q8WWI5 | |
| Ensembl transtripts involved in fusion gene | ENST00000256646, ENST00000602566, ENST00000493703, | ENST00000374723, ENST00000374720, ENST00000374724, ENST00000343170, ENST00000607692, | |
| Fusion gene scores | * DoF score | 9 X 8 X 8=576 | 3 X 3 X 2=18 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/576*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NOTCH2 [Title/Abstract] AND SLC44A1 [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 | NOTCH2 | GO:0007050 | cell cycle arrest | 11306509 |
| Hgene | NOTCH2 | GO:0007219 | Notch signaling pathway | 11306509|25985737 |
| Hgene | NOTCH2 | GO:0010629 | negative regulation of gene expression | 11306509 |
| Hgene | NOTCH2 | GO:0045967 | negative regulation of growth rate | 11306509 |
| Hgene | NOTCH2 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
| Hgene | NOTCH2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
| 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 |
| ChiTaRS3.1 | CD050630 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| * 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 |
| intron-intron | ENST00000256646 | ENST00000374723 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000256646 | ENST00000374720 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000256646 | ENST00000374724 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000256646 | ENST00000343170 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000256646 | ENST00000607692 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000602566 | ENST00000374723 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000602566 | ENST00000374720 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000602566 | ENST00000374724 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000602566 | ENST00000343170 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000602566 | ENST00000607692 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000493703 | ENST00000374723 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000493703 | ENST00000374720 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000493703 | ENST00000374724 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000493703 | ENST00000343170 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
| intron-intron | ENST00000493703 | ENST00000607692 | NOTCH2 | chr1 | 120612011 | - | SLC44A1 | chr9 | 108007210 | + |
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FusionProtFeatures for NOTCH2_SLC44A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NOTCH2 | SLC44A1 |
| 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 (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-renewal of liver cancer cells (PubMed:25985737).{ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985,ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737,ECO:0000269|PubMed:29149593}. | Choline transporter. May be involved in membranesynthesis and myelin production. {ECO:0000269|PubMed:19357133}. |
| 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 NOTCH2_SLC44A1 |
| 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 NOTCH2_SLC44A1 |
| 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 |
| - 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 NOTCH2_SLC44A1 |
| 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 NOTCH2_SLC44A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NOTCH2 | C0917715 | Hajdu-Cheney Syndrome | 2 | CTD_human;ORPHANET |
| Hgene | NOTCH2 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | NOTCH2 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Hgene | NOTCH2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | NOTCH2 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | NOTCH2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | NOTCH2 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
| Hgene | NOTCH2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | NOTCH2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | NOTCH2 | C1857761 | Alagille Syndrome 2 | 1 | ORPHANET;UNIPROT |
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