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Fusion gene ID: 7169 |
FusionGeneSummary for CHRNA7_PRR16 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHRNA7_PRR16 | Fusion gene ID: 7169 | Hgene | Tgene | Gene symbol | CHRNA7 | PRR16 | Gene ID | 89832 | 51334 |
| Gene name | CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion | proline rich 16 | |
| Synonyms | CHRNA7|CHRNA7-DR1|D-10 | DSC54|LARGEN | |
| Cytomap | 15q13.2 | 5q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CHRNA7-FAM7A fusion proteinCHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusionCHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with seq | protein Largenmesenchymal stem cell protein DSC54proline-rich protein 16 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P36544 | Q569H4 | |
| Ensembl transtripts involved in fusion gene | ENST00000454250, ENST00000306901, ENST00000455693, | ENST00000407149, ENST00000379551, ENST00000505123, ENST00000446965, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 2 X 4=32 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CHRNA7 [Title/Abstract] AND PRR16 [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 | PRR16 | GO:0045727 | positive regulation of translation | 24656129 |
| Tgene | PRR16 | GO:0045793 | positive regulation of cell size | 24656129 |
| 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-A8E0-01A | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| * 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 |
| Frame-shift | ENST00000454250 | ENST00000407149 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| Frame-shift | ENST00000454250 | ENST00000379551 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5CDS-5UTR | ENST00000454250 | ENST00000505123 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5CDS-5UTR | ENST00000454250 | ENST00000446965 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| Frame-shift | ENST00000306901 | ENST00000407149 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| Frame-shift | ENST00000306901 | ENST00000379551 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5CDS-5UTR | ENST00000306901 | ENST00000505123 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5CDS-5UTR | ENST00000306901 | ENST00000446965 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5UTR-3CDS | ENST00000455693 | ENST00000407149 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5UTR-3CDS | ENST00000455693 | ENST00000379551 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5UTR-5UTR | ENST00000455693 | ENST00000505123 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
| 5UTR-5UTR | ENST00000455693 | ENST00000446965 | CHRNA7 | chr15 | 32323240 | + | PRR16 | chr5 | 120021649 | + |
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FusionProtFeatures for CHRNA7_PRR16 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHRNA7 | PRR16 |
| After binding acetylcholine, the AChR responds by anextensive change in conformation that affects all subunits andleads to opening of an ion-conducting channel across the plasmamembrane. The channel is blocked by alpha-bungarotoxin. | Regulator of cell size that promotes cell size increaseindependently of mTOR and Hippo signaling pathways. Acts bystimulating the translation of specific mRNAs, including thoseencoding proteins affecting mitochondrial functions. Increasesmitochondrial mass and respiration. {ECO:0000269|PubMed:24656129}. |
| 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 CHRNA7_PRR16 |
| 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 CHRNA7_PRR16 |
| 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 |
| CHRNA7 | ADCY6, FYN, ATXN1 | PRR16 | NEDD4, NEDD4L, PPP1CA, APP, PPP1CC, ABI2, SMURF1 |
| - 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 CHRNA7_PRR16 |
| 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 |
| Hgene | CHRNA7 | P36544 | DB00184 | Nicotine | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB00514 | Dextromethorphan | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB00674 | Galantamine | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB00849 | Methylphenobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB00898 | Ethanol | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB01199 | Tubocurarine | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB01354 | Heptabarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB01355 | Hexobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB03128 | Acetylcholine | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved |
| Hgene | CHRNA7 | P36544 | DB00306 | Talbutal | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|illicit |
| Hgene | CHRNA7 | P36544 | DB01351 | Amobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|illicit |
| Hgene | CHRNA7 | P36544 | DB01352 | Aprobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|illicit |
| Hgene | CHRNA7 | P36544 | DB01353 | Butethal | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|illicit |
| Hgene | CHRNA7 | P36544 | DB00657 | Mecamylamine | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|investigational |
| Hgene | CHRNA7 | P36544 | DB01174 | Phenobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|investigational |
| Hgene | CHRNA7 | P36544 | DB01273 | Varenicline | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|investigational |
| Hgene | CHRNA7 | P36544 | DB00312 | Pentobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|investigational|vet_approved |
| Hgene | CHRNA7 | P36544 | DB00122 | Choline | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|nutraceutical |
| Hgene | CHRNA7 | P36544 | DB00418 | Secobarbital | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|vet_approved |
| Hgene | CHRNA7 | P36544 | DB00599 | Thiopental | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|vet_approved |
| Hgene | CHRNA7 | P36544 | DB00794 | Primidone | Neuronal acetylcholine receptor subunit alpha-7 | small molecule | approved|vet_approved |
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RelatedDiseases for CHRNA7_PRR16 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHRNA7 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | CHRNA7 | C0036572 | Seizures | 5 | CTD_human |
| Hgene | CHRNA7 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | CHRNA7 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | CHRNA7 | C0004310 | Auditory Perceptual Disorders | 1 | CTD_human |
| Hgene | CHRNA7 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | CHRNA7 | C0014548 | Epilepsy, Generalized | 1 | CTD_human |
| Hgene | CHRNA7 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | CHRNA7 | C0025261 | Memory Disorders | 1 | CTD_human |
| Hgene | CHRNA7 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | CHRNA7 | C0027746 | Nerve Degeneration | 1 | CTD_human |
| Hgene | CHRNA7 | C0037917 | Spina Bifida Cystica | 1 | CTD_human |
| Hgene | CHRNA7 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Hgene | CHRNA7 | C0038644 | Sudden infant death syndrome | 1 | CTD_human |
| Hgene | CHRNA7 | C0040336 | Tobacco Use Disorder | 1 | CTD_human |
| Hgene | CHRNA7 | C0525041 | Neurobehavioral Manifestations | 1 | CTD_human |
| Hgene | CHRNA7 | C1306503 | Congenital exomphalos | 1 | CTD_human |
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