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Fusion gene ID: 6995 |
FusionGeneSummary for CHD6_CHRNB4 |
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Fusion gene information | Fusion gene name: CHD6_CHRNB4 | Fusion gene ID: 6995 | Hgene | Tgene | Gene symbol | CHD6 | CHRNB4 | Gene ID | 84181 | 1143 |
Gene name | chromodomain helicase DNA binding protein 6 | cholinergic receptor nicotinic beta 4 subunit | |
Synonyms | CHD-6|CHD5|RIGB | - | |
Cytomap | 20q12 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | chromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B protein | neuronal acetylcholine receptor subunit beta-4acetylcholine receptor, nicotinic, beta 4 (neuronal)cholinergic receptor, nicotinic, beta 4 (neuronal)cholinergic receptor, nicotinic, beta polypeptide 4neuronal nicotinic receptor beta 4 subunit | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8TD26 | P30926 | |
Ensembl transtripts involved in fusion gene | ENST00000373233, ENST00000309279, ENST00000373222, ENST00000480022, | ENST00000261751, ENST00000412074, ENST00000560511, | |
Fusion gene scores | * DoF score | 22 X 14 X 10=3080 | 2 X 2 X 2=8 |
# samples | 25 | 2 | |
** MAII score | log2(25/3080*10)=-3.62293035092018 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: CHD6 [Title/Abstract] AND CHRNB4 [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 |
Tgene | CHRNB4 | GO:0007165 | signal transduction | 8906617 |
![]() (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-C8-A8HR-01A | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
* 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 |
Frame-shift | ENST00000373233 | ENST00000261751 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
Frame-shift | ENST00000373233 | ENST00000412074 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
5CDS-5UTR | ENST00000373233 | ENST00000560511 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
Frame-shift | ENST00000309279 | ENST00000261751 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
Frame-shift | ENST00000309279 | ENST00000412074 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
5CDS-5UTR | ENST00000309279 | ENST00000560511 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
Frame-shift | ENST00000373222 | ENST00000261751 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
Frame-shift | ENST00000373222 | ENST00000412074 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
5CDS-5UTR | ENST00000373222 | ENST00000560511 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
intron-3CDS | ENST00000480022 | ENST00000261751 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
intron-3CDS | ENST00000480022 | ENST00000412074 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
intron-5UTR | ENST00000480022 | ENST00000560511 | CHD6 | chr20 | 40141485 | - | CHRNB4 | chr15 | 78923674 | - |
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FusionProtFeatures for CHD6_CHRNB4 |
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Hgene | Tgene |
CHD6 | CHRNB4 |
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 CHD6_CHRNB4 |
![]() (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 CHD6_CHRNB4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CHD6 | AIRE, ARAF, TOLLIP, CHD3, ATXN1L, ZFYVE9, SOX2, HIST3H3, HIST1H2BG, SEC16A, RACGAP1, PAPD5, CDCA5, ESR1, EGFR | CHRNB4 | TRIM25 |
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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 CHD6_CHRNB4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CHRNB4 | P30926 | DB00184 | Nicotine | Neuronal acetylcholine receptor subunit beta-4 | small molecule | approved |
Tgene | CHRNB4 | P30926 | DB00514 | Dextromethorphan | Neuronal acetylcholine receptor subunit beta-4 | small molecule | approved |
Tgene | CHRNB4 | P30926 | DB00674 | Galantamine | Neuronal acetylcholine receptor subunit beta-4 | small molecule | approved |
Tgene | CHRNB4 | P30926 | DB00898 | Ethanol | Neuronal acetylcholine receptor subunit beta-4 | small molecule | approved |
Tgene | CHRNB4 | P30926 | DB01227 | Levomethadyl Acetate | Neuronal acetylcholine receptor subunit beta-4 | small molecule | approved|investigational |
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RelatedDiseases for CHD6_CHRNB4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD6 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | CHD6 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | CHD6 | C0027819 | Neuroblastoma | 1 | CTD_human |
Tgene | CHRNB4 | C0001973 | Alcoholic Intoxication, Chronic | 3 | PSYGENET |
Tgene | CHRNB4 | C0036572 | Seizures | 2 | CTD_human |
Tgene | CHRNB4 | C0600427 | Cocaine Dependence | 2 | PSYGENET |
Tgene | CHRNB4 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | CHRNB4 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |