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Fusion gene ID: 4771 |
FusionGeneSummary for C17orf80_MYCN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C17orf80_MYCN | Fusion gene ID: 4771 | Hgene | Tgene | Gene symbol | C17orf80 | MYCN | Gene ID | 55028 | 4613 |
| Gene name | chromosome 17 open reading frame 80 | MYCN proto-oncogene, bHLH transcription factor | |
| Synonyms | HLC-8|MIG3|SPEP1 | MODED|N-myc|NMYC|ODED|bHLHe37 | |
| Cytomap | 17q25.1 | 2p24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | uncharacterized protein C17orf80cell migration-inducing gene 3 proteinhuman lung cancer oncogene 8 proteinlung cancer-related protein 8sperm-expressed protein 1 | N-myc proto-oncogene proteinclass E basic helix-loop-helix protein 37neuroblastoma MYC oncogeneneuroblastoma-derived v-myc avian myelocytomatosis viral related oncogeneoncogene NMYCv-myc avian myelocytomatosis viral oncogene neuroblastoma derived hom | |
| Modification date | 20180519 | 20180520 | |
| UniProtAcc | Q9BSJ5 | P04198 | |
| Ensembl transtripts involved in fusion gene | ENST00000255557, ENST00000577615, ENST00000268942, ENST00000359042, ENST00000426147, ENST00000535032, ENST00000582793, | ENST00000281043, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 1 X 1 X 1=1 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/4*10)=2.90689059560852 | log2(2/1*10)=4.32192809488736 | |
| Context | PubMed: C17orf80 [Title/Abstract] AND MYCN [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 | MYCN | GO:0010628 | positive regulation of gene expression | 23308108 |
| Tgene | MYCN | GO:0010629 | negative regulation of gene expression | 21796614 |
| Tgene | MYCN | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17327229 |
| 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 | CX753028 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + | ||
| ChiTaRS3.1 | CX752004 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| * 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-3CDS | ENST00000255557 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| Frame-shift | ENST00000577615 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| Frame-shift | ENST00000268942 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| Frame-shift | ENST00000359042 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| intron-3CDS | ENST00000426147 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| Frame-shift | ENST00000535032 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
| Frame-shift | ENST00000582793 | ENST00000281043 | C17orf80 | chr17 | 71243455 | - | MYCN | chr2 | 16085675 | + |
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FusionProtFeatures for C17orf80_MYCN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C17orf80 | MYCN |
| Positively regulates the transcription of MYCNOS inneuroblastoma cells. {ECO:0000269|PubMed:24391509}. |
| 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 C17orf80_MYCN |
| 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 C17orf80_MYCN |
| 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 C17orf80_MYCN |
| 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 C17orf80_MYCN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MYCN | C0027819 | Neuroblastoma | 12 | CTD_human;ORPHANET |
| Tgene | MYCN | C0796068 | Oculodigitoesophagoduodenal syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | MYCN | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | MYCN | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | MYCN | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Tgene | MYCN | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | MYCN | C0020507 | Hyperplasia | 1 | CTD_human |
| Tgene | MYCN | C0025149 | Medulloblastoma | 1 | CTD_human |
| Tgene | MYCN | C0027540 | Necrosis | 1 | CTD_human |
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