|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 7173 |
FusionGeneSummary for CHRNB3_RB1CC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CHRNB3_RB1CC1 | Fusion gene ID: 7173 | Hgene | Tgene | Gene symbol | CHRNB3 | RB1CC1 | Gene ID | 1142 | 9821 |
| Gene name | cholinergic receptor nicotinic beta 3 subunit | RB1 inducible coiled-coil 1 | |
| Synonyms | - | ATG17|CC1|FIP200|PPP1R131 | |
| Cytomap | 8p11.21 | 8q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neuronal acetylcholine receptor subunit beta-3acetylcholine receptor, neuronal nicotinic, beta-3 subunitacetylcholine receptor, nicotinic, beta 3 (neuronal)cholinergic receptor, nicotinic beta 3cholinergic receptor, nicotinic, beta 3 (neuronal)cholin | RB1-inducible coiled-coil protein 1200 kDa FAK family kinase-interacting proteinFAK family kinase-interacting protein of 200 kDaphosphatase 1, regulatory subunit 131 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q05901 | Q8TDY2 | |
| Ensembl transtripts involved in fusion gene | ENST00000531610, ENST00000289957, | ENST00000025008, ENST00000435644, ENST00000521611, ENST00000539297, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 7 X 5=245 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CHRNB3 [Title/Abstract] AND RB1CC1 [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 |
| 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 | BRCA | TCGA-BH-A0B1-01A | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| * 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 | ENST00000531610 | ENST00000025008 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| intron-3CDS | ENST00000531610 | ENST00000435644 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| intron-intron | ENST00000531610 | ENST00000521611 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| intron-intron | ENST00000531610 | ENST00000539297 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| Frame-shift | ENST00000289957 | ENST00000025008 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| Frame-shift | ENST00000289957 | ENST00000435644 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| 5CDS-intron | ENST00000289957 | ENST00000521611 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
| 5CDS-intron | ENST00000289957 | ENST00000539297 | CHRNB3 | chr8 | 42565577 | + | RB1CC1 | chr8 | 53558427 | - |
Top |
FusionProtFeatures for CHRNB3_RB1CC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CHRNB3 | RB1CC1 |
| 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. | Involved in autophagy (PubMed:21775823). Regulates earlyevents but also late events of autophagosome formation throughdirect interaction with Atg16L1 (PubMed:23392225). Required forthe formation of the autophagosome-like double-membrane structurethat surrounds the Salmonella-containing vacuole (SCV) duringS.typhimurium infection and subsequent xenophagy (By similarity).Involved in repair of DNA damage caused by ionizing radiation,which subsequently improves cell survival by decreasing apoptosis(By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinaseactivity, affecting their downstream signaling pathways(PubMed:10769033, PubMed:12221124). Plays a role as a modulator ofTGF-beta-signaling by restricting substrate specificity of RNF111(By similarity). Functions as a DNA-binding transcription factor(PubMed:12095676). Is a potent regulator of the RB1 pathwaythrough induction of RB1 expression (PubMed:14533007). Plays acrucial role in muscular differentiation (PubMed:12163359). Playsan indispensable role in fetal hematopoiesis and in the regulationof neuronal homeostasis (By similarity).{ECO:0000250|UniProtKB:Q9ESK9, ECO:0000269|PubMed:10769033,ECO:0000269|PubMed:12095676, ECO:0000269|PubMed:12163359,ECO:0000269|PubMed:12221124, ECO:0000269|PubMed:14533007,ECO:0000269|PubMed:21775823, ECO:0000269|PubMed:23392225}. |
| 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 |
Top |
FusionGeneSequence for CHRNB3_RB1CC1 |
| 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). |
Top |
FusionGenePPI for CHRNB3_RB1CC1 |
| 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 |
| CHRNB3 | TYRO3, LEMD2, ZG16B | RB1CC1 | ERCC6L, CDK19, MOB4, DBNL, MAP3K5, TRAF2, PTK2B, PTK2, ATG13, MAP1LC3C, PRKAA2, PRKAB2, SMCR8, HSBP1, ATG101, TBK1, RPA1, SAFB2, SAFB, RPA2, RBMX, YLPM1, ULK1, ULK2, SMARCB1, TP53, TBKBP1, RNF111, SKI, SKIL, VHL, CTNNB1, UBC, GABARAP, GABARAPL1, RFWD2, PINK1, CALCOCO2, DYRK2, ATG16L1, EXOC1, ATG5, SESN2, CCDC8, VAPB, BAP1, BLID, EPSTI1, ERRFI1, GLCE, GREB1, IL13RA2, IL24, ITIH5, LYPD3, MRC2, PSMC3IP, RNF20, THRSP, VPS45, WHSC1L1, WIF1, HBP1, MADD, SYN1, UMPS, DLG3, TACC1, HUWE1, SGTB, TCEAL4, SGOL1, NANOG, CDH1, MTMR4, DUPD1, FAM221B, CCDC53, DENR, VAPA, SYCE3, TRAF1, TRIM25 |
| - 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 |
Top |
RelatedDrugs for CHRNB3_RB1CC1 |
| 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 | CHRNB3 | Q05901 | DB00184 | Nicotine | Neuronal acetylcholine receptor subunit beta-3 | small molecule | approved |
| Hgene | CHRNB3 | Q05901 | DB00674 | Galantamine | Neuronal acetylcholine receptor subunit beta-3 | small molecule | approved |
| Hgene | CHRNB3 | Q05901 | DB00898 | Ethanol | Neuronal acetylcholine receptor subunit beta-3 | small molecule | approved |
Top |
RelatedDiseases for CHRNB3_RB1CC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CHRNB3 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| Hgene | CHRNB3 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | CHRNB3 | C0011570 | Mental Depression | 1 | PSYGENET |
| Hgene | CHRNB3 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Hgene | CHRNB3 | C0600427 | Cocaine Dependence | 1 | PSYGENET |
| Hgene | CHRNB3 | C1861063 | TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) | 1 | CTD_human |
| Hgene | CHRNB3 | C3496069 | cocaine use | 1 | PSYGENET |
| Tgene | RB1CC1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | RB1CC1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|