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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:EXOC6-SOD1 (FusionGDB2 ID:HG54536TG6647) |
Fusion Gene Summary for EXOC6-SOD1 |
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Fusion gene information | Fusion gene name: EXOC6-SOD1 | Fusion gene ID: hg54536tg6647 | Hgene | Tgene | Gene symbol | EXOC6 | SOD1 | Gene ID | 54536 | 6647 |
Gene name | exocyst complex component 6 | superoxide dismutase 1 | |
Synonyms | EXOC6A|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p | ALS|ALS1|HEL-S-44|IPOA|SOD|STAHP|hSod1|homodimer | |
Cytomap | ('EXOC6')('SOD1') 10q23.33 | 21q22.11 | |
Type of gene | protein-coding | protein-coding | |
Description | exocyst complex component 6SEC15-like 1SEC15-like protein 3exocyst complex component Sec15Arsec15-like protein | superoxide dismutase [Cu-Zn]Cu/Zn superoxide dismutaseSOD, solubleepididymis secretory protein Li 44indophenoloxidase Asuperoxide dismutase 1, solublesuperoxide dismutase, cystolic | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000260762, ENST00000371543, ENST00000371547, ENST00000371552, ENST00000443748, ENST00000497262, | ||
Fusion gene scores | * DoF score | 7 X 7 X 5=245 | 6 X 6 X 2=72 |
# samples | 7 | 6 | |
** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EXOC6 [Title/Abstract] AND SOD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EXOC6(94782894)-SOD1(33041244), # 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 |
Tgene | SOD1 | GO:0000303 | response to superoxide | 16790527 |
Tgene | SOD1 | GO:0001819 | positive regulation of cytokine production | 15544046 |
Tgene | SOD1 | GO:0006801 | superoxide metabolic process | 12551919 |
Tgene | SOD1 | GO:0010033 | response to organic substance | 12921788 |
Tgene | SOD1 | GO:0032930 | positive regulation of superoxide anion generation | 18219391 |
Tgene | SOD1 | GO:0043085 | positive regulation of catalytic activity | 17324120 |
Tgene | SOD1 | GO:0043087 | regulation of GTPase activity | 18219391 |
Tgene | SOD1 | GO:0045541 | negative regulation of cholesterol biosynthetic process | 15473258 |
Tgene | SOD1 | GO:0045859 | regulation of protein kinase activity | 16254550 |
Tgene | SOD1 | GO:0050665 | hydrogen peroxide biosynthetic process | 15544046 |
Tgene | SOD1 | GO:0060047 | heart contraction | 9539776 |
Tgene | SOD1 | GO:0072593 | reactive oxygen species metabolic process | 24140062 |
![]() * 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 EXOC6-SOD1 |
![]() * 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 EXOC6-SOD1 |
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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 EXOC6-SOD1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:94782894/:33041244) - 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 EXOC6-SOD1 |
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Fusion Gene PPI Analysis for EXOC6-SOD1 |
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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 EXOC6-SOD1 |
![]() (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 EXOC6-SOD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 67 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0002736 | Amyotrophic Lateral Sclerosis | 28 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 25 | CTD_human | |
Tgene | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 25 | CTD_human | |
Tgene | C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | 19 | CTD_human | |
Tgene | C4551993 | Amyotrophic Lateral Sclerosis, Familial | 19 | CTD_human | |
Tgene | C0007787 | Transient Ischemic Attack | 4 | CTD_human | |
Tgene | C0035126 | Reperfusion Injury | 4 | CTD_human | |
Tgene | C0472381 | Posterior Circulation Transient Ischemic Attack | 4 | CTD_human | |
Tgene | C0751019 | Carotid Circulation Transient Ischemic Attack | 4 | CTD_human | |
Tgene | C0751020 | Transient Ischemic Attack, Vertebrobasilar Circulation | 4 | CTD_human | |
Tgene | C0751021 | Crescendo Transient Ischemic Attacks | 4 | CTD_human | |
Tgene | C0751022 | Brain Stem Ischemia, Transient | 4 | CTD_human | |
Tgene | C0917805 | Transient Cerebral Ischemia | 4 | CTD_human | |
Tgene | C1527335 | Transient Ischemic Attack, Anterior Circulation | 4 | CTD_human | |
Tgene | C0011581 | Depressive disorder | 3 | CTD_human;PSYGENET | |
Tgene | C0027746 | Nerve Degeneration | 3 | CTD_human | |
Tgene | C0030567 | Parkinson Disease | 3 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 2 | CTD_human | |
Tgene | C0011570 | Mental Depression | 2 | PSYGENET | |
Tgene | C0019193 | Hepatitis, Toxic | 2 | CTD_human | |
Tgene | C0020538 | Hypertensive disease | 2 | CTD_human | |
Tgene | C0035304 | Retinal Degeneration | 2 | CTD_human | |
Tgene | C0860207 | Drug-Induced Liver Disease | 2 | CTD_human | |
Tgene | C1262760 | Hepatitis, Drug-Induced | 2 | CTD_human | |
Tgene | C3658290 | Drug-Induced Acute Liver Injury | 2 | CTD_human | |
Tgene | C4277682 | Chemical and Drug Induced Liver Injury | 2 | CTD_human | |
Tgene | C4279912 | Chemically-Induced Liver Toxicity | 2 | CTD_human | |
Tgene | C0002152 | Alloxan Diabetes | 1 | CTD_human | |
Tgene | C0003493 | Aortic Diseases | 1 | CTD_human | |
Tgene | C0004045 | Asphyxia Neonatorum | 1 | CTD_human | |
Tgene | C0004096 | Asthma | 1 | CTD_human | |
Tgene | C0004153 | Atherosclerosis | 1 | CTD_human | |
Tgene | C0007786 | Brain Ischemia | 1 | CTD_human | |
Tgene | C0011573 | Endogenous depression | 1 | CTD_human | |
Tgene | C0011616 | Contact Dermatitis | 1 | CTD_human | |
Tgene | C0011849 | Diabetes Mellitus | 1 | CTD_human | |
Tgene | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human | |
Tgene | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human | |
Tgene | C0011884 | Diabetic Retinopathy | 1 | CTD_human | |
Tgene | C0013080 | Down Syndrome | 1 | CTD_human | |
Tgene | C0013221 | Drug toxicity | 1 | CTD_human | |
Tgene | C0015695 | Fatty Liver | 1 | CTD_human | |
Tgene | C0015696 | Fatty Liver, Alcoholic | 1 | CTD_human | |
Tgene | C0015934 | Fetal Growth Retardation | 1 | CTD_human | |
Tgene | C0017638 | Glioma | 1 | CTD_human | |
Tgene | C0018801 | Heart failure | 1 | CTD_human | |
Tgene | C0018802 | Congestive heart failure | 1 | CTD_human | |
Tgene | C0019054 | Hemolysis (disorder) | 1 | CTD_human | |
Tgene | C0019189 | Hepatitis, Chronic | 1 | CTD_human | |
Tgene | C0020550 | Hyperthyroidism | 1 | CTD_human | |
Tgene | C0020649 | Hypotension | 1 | CTD_human | |
Tgene | C0020672 | Hypothermia, natural | 1 | CTD_human | |
Tgene | C0021368 | Inflammation | 1 | CTD_human | |
Tgene | C0022116 | Ischemia | 1 | CTD_human | |
Tgene | C0022650 | Kidney Calculi | 1 | CTD_human | |
Tgene | C0022660 | Kidney Failure, Acute | 1 | CTD_human | |
Tgene | C0023212 | Left-Sided Heart Failure | 1 | CTD_human | |
Tgene | C0023895 | Liver diseases | 1 | CTD_human | |
Tgene | C0024796 | Marfan Syndrome | 1 | CTD_human | |
Tgene | C0025193 | Melancholia | 1 | CTD_human | |
Tgene | C0025312 | Meningomyelocele | 1 | CTD_human | |
Tgene | C0026846 | Muscular Atrophy | 1 | CTD_human | |
Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
Tgene | C0027540 | Necrosis | 1 | CTD_human | |
Tgene | C0027720 | Nephrosis | 1 | CTD_human | |
Tgene | C0027765 | nervous system disorder | 1 | CTD_human | |
Tgene | C0028754 | Obesity | 1 | CTD_human | |
Tgene | C0033626 | Protein Deficiency | 1 | CTD_human | |
Tgene | C0033687 | Proteinuria | 1 | CTD_human | |
Tgene | C0034069 | Pulmonary Fibrosis | 1 | CTD_human | |
Tgene | C0036330 | Schistosomiasis mansoni | 1 | CTD_human | |
Tgene | C0036457 | Scrapie | 1 | CTD_human | |
Tgene | C0038433 | Streptozotocin Diabetes | 1 | CTD_human | |
Tgene | C0038454 | Cerebrovascular accident | 1 | CTD_human | |
Tgene | C0041408 | Turner Syndrome | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | CTD_human | |
Tgene | C0041755 | Adverse reaction to drug | 1 | CTD_human | |
Tgene | C0085084 | Motor Neuron Disease | 1 | CTD_human | |
Tgene | C0086133 | Depressive Syndrome | 1 | CTD_human | |
Tgene | C0086565 | Liver Dysfunction | 1 | CTD_human | |
Tgene | C0086664 | Myelocele | 1 | CTD_human | |
Tgene | C0149519 | Chronic Persistent Hepatitis | 1 | CTD_human | |
Tgene | C0154681 | Anterior Horn Cell Disease | 1 | CTD_human | |
Tgene | C0154682 | Lateral Sclerosis | 1 | CTD_human | |
Tgene | C0162316 | Iron deficiency anemia | 1 | CTD_human | |
Tgene | C0162351 | Contact hypersensitivity | 1 | CTD_human | |
Tgene | C0162671 | MELAS Syndrome | 1 | CTD_human | |
Tgene | C0162674 | Chronic progressive external ophthalmoplegia | 1 | CTD_human | |
Tgene | C0231686 | Gait, Unsteady | 1 | CTD_human | |
Tgene | C0231687 | Spastic gait | 1 | CTD_human | |
Tgene | C0231688 | Gait, Shuffling | 1 | CTD_human | |
Tgene | C0231689 | Gait, Athetotic | 1 | CTD_human | |
Tgene | C0231693 | Charcot Gait | 1 | CTD_human | |
Tgene | C0231694 | Gait, Festinating | 1 | CTD_human | |
Tgene | C0231695 | Cerebellar ataxic gait | 1 | CTD_human | |
Tgene | C0231696 | Gait, Hemiplegic | 1 | CTD_human | |
Tgene | C0231698 | Gait, Scissors | 1 | CTD_human | |
Tgene | C0231712 | Waddling gait | 1 | CTD_human | |
Tgene | C0234996 | Gait, Rigid | 1 | CTD_human | |
Tgene | C0235000 | Gait, Broadened | 1 | CTD_human | |
Tgene | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human | |
Tgene | C0235574 | Intravascular hemolysis | 1 | CTD_human | |
Tgene | C0242497 | Intestinal schistosomiasis | 1 | CTD_human | |
Tgene | C0242526 | Gonadal Dysgenesis, 45,X | 1 | CTD_human | |
Tgene | C0259783 | mixed gliomas | 1 | CTD_human | |
Tgene | C0270763 | Familial Motor Neuron Disease | 1 | CTD_human | |
Tgene | C0270764 | Motor Neuron Disease, Lower | 1 | CTD_human | |
Tgene | C0270948 | Neurogenic Muscular Atrophy | 1 | CTD_human | |
Tgene | C0282126 | Depression, Neurotic | 1 | CTD_human | |
Tgene | C0312854 | Extravascular Hemolysis | 1 | CTD_human | |
Tgene | C0337210 | Gait, Stumbling | 1 | CTD_human | |
Tgene | C0427128 | Rapid Fatigue of Gait | 1 | CTD_human | |
Tgene | C0427149 | Gait, Drop Foot | 1 | CTD_human | |
Tgene | C0427169 | Marche a Petit Pas | 1 | CTD_human | |
Tgene | C0427177 | Gait, Hysterical | 1 | CTD_human | |
Tgene | C0432416 | Down Syndrome, Partial Trisomy 21 | 1 | CTD_human | |
Tgene | C0432417 | Trisomy 21, Meiotic Nondisjunction | 1 | CTD_human | |
Tgene | C0520463 | Chronic active hepatitis | 1 | CTD_human | |
Tgene | C0521659 | Motor Neuron Disease, Upper | 1 | CTD_human | |
Tgene | C0524611 | Cryptogenic Chronic Hepatitis | 1 | CTD_human | |
Tgene | C0543858 | Motor Neuron Disease, Secondary | 1 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 1 | CTD_human | |
Tgene | C0751081 | Trisomy 21, Mitotic Nondisjunction | 1 | CTD_human | |
Tgene | C0751316 | Acquired Meningomyelocele | 1 | CTD_human | |
Tgene | C0751829 | Gait Disorder, Sensorimotor | 1 | CTD_human | |
Tgene | C0751830 | Gait Disorders, Neurologic | 1 | CTD_human | |
Tgene | C0751831 | Gait, Frontal | 1 | CTD_human | |
Tgene | C0751832 | Gait, Widebased | 1 | CTD_human | |
Tgene | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human | |
Tgene | C0917798 | Cerebral Ischemia | 1 | CTD_human | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human | |
Tgene | C1262477 | Weight decreased | 1 | CTD_human | |
Tgene | C1384666 | hearing impairment | 1 | CTD_human | |
Tgene | C1456865 | Ureteral Calculi | 1 | CTD_human | |
Tgene | C1527168 | Bonnevie-Ullrich Syndrome | 1 | CTD_human | |
Tgene | C1563937 | Atherogenesis | 1 | CTD_human | |
Tgene | C1565662 | Acute Kidney Insufficiency | 1 | CTD_human | |
Tgene | C1959583 | Myocardial Failure | 1 | CTD_human | |
Tgene | C1961112 | Heart Decompensation | 1 | CTD_human | |
Tgene | C2609414 | Acute kidney injury | 1 | CTD_human | |
Tgene | C2711227 | Steatohepatitis | 1 | CTD_human | |
Tgene | C2718067 | Alcoholic Steatohepatitis | 1 | CTD_human | |
Tgene | C3714618 | Primary Hyperthyroidism | 1 | CTD_human | |
Tgene | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human | |
Tgene | C4721845 | Marfan Syndrome, Type I | 1 | CTD_human |