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Fusion gene ID: 7172 |
FusionGeneSummary for CHRNB3_JRKL |
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Fusion gene information | Fusion gene name: CHRNB3_JRKL | Fusion gene ID: 7172 | Hgene | Tgene | Gene symbol | CHRNB3 | JRKL | Gene ID | 1142 | 8690 |
Gene name | cholinergic receptor nicotinic beta 3 subunit | JRK like | |
Synonyms | - | HHMJG | |
Cytomap | 8p11.21 | 11q21 | |
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 | jerky protein homolog-likehuman homolog of mouse jerky gene protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q05901 | Q9Y4A0 | |
Ensembl transtripts involved in fusion gene | ENST00000531610, ENST00000289957, | ENST00000546177, ENST00000332349, ENST00000458427, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: CHRNB3 [Title/Abstract] AND JRKL [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BE464466 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000531610 | ENST00000546177 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
intron-intron | ENST00000531610 | ENST00000332349 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
intron-intron | ENST00000531610 | ENST00000458427 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
intron-intron | ENST00000289957 | ENST00000546177 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
intron-intron | ENST00000289957 | ENST00000332349 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
intron-intron | ENST00000289957 | ENST00000458427 | CHRNB3 | chr8 | 42559297 | + | JRKL | chr11 | 96183356 | + |
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FusionProtFeatures for CHRNB3_JRKL |
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Hgene | Tgene |
CHRNB3 | JRKL |
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. |
![]() * 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 CHRNB3_JRKL |
![]() (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 CHRNB3_JRKL |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CHRNB3_JRKL |
![]() (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 |
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RelatedDiseases for CHRNB3_JRKL |
![]() (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 |