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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CYP2E1-KLHL14 (FusionGDB2 ID:HG1571TG57565) |
Fusion Gene Summary for CYP2E1-KLHL14 |
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Fusion gene information | Fusion gene name: CYP2E1-KLHL14 | Fusion gene ID: hg1571tg57565 | Hgene | Tgene | Gene symbol | CYP2E1 | KLHL14 | Gene ID | 1571 | 57565 |
Gene name | cytochrome P450 family 2 subfamily E member 1 | kelch like family member 14 | |
Synonyms | CPE1|CYP2E|P450-J|P450C2E | - | |
Cytomap | ('CYP2E1')('KLHL14') 10q26.3 | 18q12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome P450 2E14-nitrophenol 2-hydroxylaseCYPIIE1cytochrome P450, family 2, subfamily E, polypeptide 1cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1cytochrome P450-Jflavoprotein-linked monooxygenasemicrosomal monooxygenasexe | kelch-like protein 14kelch-like 14printorprotein interactor of Torsin-1A | |
Modification date | 20200315 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000252945, ENST00000463117, ENST00000480558, | ||
Fusion gene scores | * DoF score | 8 X 5 X 3=120 | 4 X 4 X 1=16 |
# samples | 8 | 4 | |
** MAII score | log2(8/120*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CYP2E1 [Title/Abstract] AND KLHL14 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CYP2E1(135352594)-KLHL14(30306685), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
Hgene | CYP2E1 | GO:0002933 | lipid hydroxylation | 10553002 |
Hgene | CYP2E1 | GO:0016098 | monoterpenoid metabolic process | 16401082 |
Hgene | CYP2E1 | GO:0017144 | drug metabolic process | 19219744 |
Hgene | CYP2E1 | GO:0018960 | 4-nitrophenol metabolic process | 9348445 |
Hgene | CYP2E1 | GO:0046483 | heterocycle metabolic process | 19651758 |
Hgene | CYP2E1 | GO:0055114 | oxidation-reduction process | 16401082|19219744 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for CYP2E1-KLHL14 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CYP2E1-KLHL14 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CYP2E1-KLHL14 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:135352594/:30306685) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for CYP2E1-KLHL14 |
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Fusion Gene PPI Analysis for CYP2E1-KLHL14 |
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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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Related Drugs for CYP2E1-KLHL14 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CYP2E1-KLHL14 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CYP2E1 | C0001973 | Alcoholic Intoxication, Chronic | 6 | CTD_human;PSYGENET |
Hgene | CYP2E1 | C0085762 | Alcohol abuse | 6 | CTD_human;PSYGENET |
Hgene | CYP2E1 | C0019193 | Hepatitis, Toxic | 4 | CTD_human |
Hgene | CYP2E1 | C0860207 | Drug-Induced Liver Disease | 4 | CTD_human |
Hgene | CYP2E1 | C1262760 | Hepatitis, Drug-Induced | 4 | CTD_human |
Hgene | CYP2E1 | C3658290 | Drug-Induced Acute Liver Injury | 4 | CTD_human |
Hgene | CYP2E1 | C4277682 | Chemical and Drug Induced Liver Injury | 4 | CTD_human |
Hgene | CYP2E1 | C4279912 | Chemically-Induced Liver Toxicity | 4 | CTD_human |
Hgene | CYP2E1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
Hgene | CYP2E1 | C0027540 | Necrosis | 2 | CTD_human |
Hgene | CYP2E1 | C0242379 | Malignant neoplasm of lung | 2 | CTD_human |
Hgene | CYP2E1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | CYP2E1 | C0001956 | Alcohol Use Disorder | 1 | CTD_human |
Hgene | CYP2E1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | CYP2E1 | C0011609 | Drug Eruptions | 1 | CTD_human |
Hgene | CYP2E1 | C0013221 | Drug toxicity | 1 | CTD_human |
Hgene | CYP2E1 | C0015695 | Fatty Liver | 1 | CTD_human |
Hgene | CYP2E1 | C0015696 | Fatty Liver, Alcoholic | 1 | CTD_human |
Hgene | CYP2E1 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | CYP2E1 | C0019207 | Hepatoma, Morris | 1 | CTD_human |
Hgene | CYP2E1 | C0019208 | Hepatoma, Novikoff | 1 | CTD_human |
Hgene | CYP2E1 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | CYP2E1 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | CYP2E1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Hgene | CYP2E1 | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | CYP2E1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Hgene | CYP2E1 | C0024302 | Reticulosarcoma | 1 | CTD_human |
Hgene | CYP2E1 | C0024304 | Lymphoma, Mixed-Cell | 1 | CTD_human |
Hgene | CYP2E1 | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
Hgene | CYP2E1 | C0024306 | Lymphoma, Undifferentiated | 1 | CTD_human |
Hgene | CYP2E1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | CYP2E1 | C0028754 | Obesity | 1 | CTD_human |
Hgene | CYP2E1 | C0030567 | Parkinson Disease | 1 | CTD_human |
Hgene | CYP2E1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | CYP2E1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | CYP2E1 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Hgene | CYP2E1 | C0079740 | High Grade Lymphoma (neoplasm) | 1 | CTD_human |
Hgene | CYP2E1 | C0079741 | Lymphoma, Intermediate-Grade | 1 | CTD_human |
Hgene | CYP2E1 | C0079747 | Low Grade Lymphoma (neoplasm) | 1 | CTD_human |
Hgene | CYP2E1 | C0079757 | Diffuse Mixed-Cell Lymphoma | 1 | CTD_human |
Hgene | CYP2E1 | C0079770 | Lymphoma, Small Noncleaved-Cell | 1 | CTD_human |
Hgene | CYP2E1 | C0086404 | Experimental Hepatoma | 1 | CTD_human |
Hgene | CYP2E1 | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
Hgene | CYP2E1 | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
Hgene | CYP2E1 | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
Hgene | CYP2E1 | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
Hgene | CYP2E1 | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
Hgene | CYP2E1 | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | CYP2E1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | CYP2E1 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Hgene | CYP2E1 | C0406537 | Morbilliform Drug Reaction | 1 | CTD_human |
Hgene | CYP2E1 | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |
Hgene | CYP2E1 | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
Hgene | CYP2E1 | C1449862 | Micronuclei, Genotoxicant-Induced | 1 | CTD_human |
Hgene | CYP2E1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | CYP2E1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | CYP2E1 | C2711227 | Steatohepatitis | 1 | CTD_human |
Hgene | CYP2E1 | C2718067 | Alcoholic Steatohepatitis | 1 | CTD_human |
Hgene | CYP2E1 | C3241937 | Nonalcoholic Steatohepatitis | 1 | CTD_human |
Hgene | CYP2E1 | C3714542 | Lymphoma, Diffuse | 1 | CTD_human |
Hgene | CYP2E1 | C4721532 | Lymphoma, Non-Hodgkin, Familial | 1 | CTD_human |