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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:EPHX1-SEC63 (FusionGDB2 ID:HG2052TG11231) |
Fusion Gene Summary for EPHX1-SEC63 |
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Fusion gene information | Fusion gene name: EPHX1-SEC63 | Fusion gene ID: hg2052tg11231 | Hgene | Tgene | Gene symbol | EPHX1 | SEC63 | Gene ID | 2052 | 11231 |
Gene name | epoxide hydrolase 1 | SEC63 homolog, protein translocation regulator | |
Synonyms | EPHX|EPOX|HYL1|MEH | DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L | |
Cytomap | ('EPHX1')('SEC63') 1q42.12 | 6q21 | |
Type of gene | protein-coding | protein-coding | |
Description | epoxide hydrolase 1epoxide hydrataseepoxide hydrolase 1 microsomalepoxide hydrolase 1, microsomal (xenobiotic) | translocation protein SEC63 homologSEC63 protein translocation regulatorSEC63-like protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000272167, ENST00000366837, ENST00000467015, | ||
Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 38 X 14 X 15=7980 |
# samples | 6 | 39 | |
** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/7980*10)=-4.3548427173601 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EPHX1 [Title/Abstract] AND SEC63 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EPHX1(226033260)-SEC63(108214782), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | EPHX1-SEC63 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. EPHX1-SEC63 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 | EPHX1 | GO:0097176 | epoxide metabolic process | 22798687 |
![]() * 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 |
ChimerDB4 | LIHC | TCGA-CC-A7IL-01A | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
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Fusion Gene ORF analysis for EPHX1-SEC63 |
![]() * 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 |
5CDS-intron | ENST00000272167 | ENST00000460009 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
5CDS-intron | ENST00000366837 | ENST00000460009 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
Frame-shift | ENST00000272167 | ENST00000369002 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
Frame-shift | ENST00000366837 | ENST00000369002 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
intron-3CDS | ENST00000467015 | ENST00000369002 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
intron-intron | ENST00000467015 | ENST00000460009 | EPHX1 | chr1 | 226033260 | - | SEC63 | chr6 | 108214782 | - |
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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 EPHX1-SEC63 |
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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 EPHX1-SEC63 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:226033260/:108214782) - 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 EPHX1-SEC63 |
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Fusion Gene PPI Analysis for EPHX1-SEC63 |
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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 EPHX1-SEC63 |
![]() (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 EPHX1-SEC63 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EPHX1 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 3 | CLINGEN |
Hgene | EPHX1 | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
Hgene | EPHX1 | C0376358 | Malignant neoplasm of prostate | 3 | CTD_human |
Hgene | EPHX1 | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 3 | CLINGEN |
Hgene | EPHX1 | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 3 | CLINGEN |
Hgene | EPHX1 | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 3 | CLINGEN |
Hgene | EPHX1 | C1843139 | Hypercholanemia, Familial | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | EPHX1 | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 3 | CLINGEN |
Hgene | EPHX1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
Hgene | EPHX1 | C0032914 | Pre-Eclampsia | 2 | CTD_human |
Hgene | EPHX1 | C0242379 | Malignant neoplasm of lung | 2 | CTD_human |
Hgene | EPHX1 | C0000771 | Abnormalities, Drug-Induced | 1 | CTD_human |
Hgene | EPHX1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | EPHX1 | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | EPHX1 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Hgene | EPHX1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | EPHX1 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | EPHX1 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | EPHX1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Hgene | EPHX1 | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
Hgene | EPHX1 | C0024299 | Lymphoma | 1 | CTD_human |
Hgene | EPHX1 | C0024302 | Reticulosarcoma | 1 | CTD_human |
Hgene | EPHX1 | C0024304 | Lymphoma, Mixed-Cell | 1 | CTD_human |
Hgene | EPHX1 | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
Hgene | EPHX1 | C0024306 | Lymphoma, Undifferentiated | 1 | CTD_human |
Hgene | EPHX1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | EPHX1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | EPHX1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
Hgene | EPHX1 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Hgene | EPHX1 | C0034067 | Pulmonary Emphysema | 1 | CTD_human |
Hgene | EPHX1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | EPHX1 | C0079740 | High Grade Lymphoma (neoplasm) | 1 | CTD_human |
Hgene | EPHX1 | C0079741 | Lymphoma, Intermediate-Grade | 1 | CTD_human |
Hgene | EPHX1 | C0079747 | Low Grade Lymphoma (neoplasm) | 1 | CTD_human |
Hgene | EPHX1 | C0079757 | Diffuse Mixed-Cell Lymphoma | 1 | CTD_human |
Hgene | EPHX1 | C0079770 | Lymphoma, Small Noncleaved-Cell | 1 | CTD_human |
Hgene | EPHX1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | EPHX1 | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | EPHX1 | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | EPHX1 | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | EPHX1 | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | EPHX1 | C0221227 | Centriacinar Emphysema | 1 | CTD_human |
Hgene | EPHX1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Hgene | EPHX1 | C0236804 | Amphetamine Addiction | 1 | CTD_human |
Hgene | EPHX1 | C0236807 | Amphetamine Abuse | 1 | CTD_human |
Hgene | EPHX1 | C0242488 | Acute Lung Injury | 1 | CTD_human |
Hgene | EPHX1 | C0264393 | Panacinar Emphysema | 1 | CTD_human |
Hgene | EPHX1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Hgene | EPHX1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | EPHX1 | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | EPHX1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | EPHX1 | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
Hgene | EPHX1 | C1449862 | Micronuclei, Genotoxicant-Induced | 1 | CTD_human |
Hgene | EPHX1 | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human |
Hgene | EPHX1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Hgene | EPHX1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | EPHX1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | EPHX1 | C2350878 | Focal Emphysema | 1 | CTD_human |
Hgene | EPHX1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | EPHX1 | C3714542 | Lymphoma, Diffuse | 1 | CTD_human |
Hgene | EPHX1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | EPHX1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | EPHX1 | C4721532 | Lymphoma, Non-Hodgkin, Familial | 1 | CTD_human |
Tgene | C0158683 | Polycystic liver disease | 2 | CTD_human;ORPHANET | |
Tgene | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human | |
Tgene | C1567435 | Polycystic Kidney - body part | 1 | CTD_human | |
Tgene | C4310769 | POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS | 1 | GENOMICS_ENGLAND |