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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:CASP8-NDUFB3 (FusionGDB2 ID:HG841TG4709) |
Fusion Gene Summary for CASP8-NDUFB3 |
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Fusion gene information | Fusion gene name: CASP8-NDUFB3 | Fusion gene ID: hg841tg4709 | Hgene | Tgene | Gene symbol | CASP8 | NDUFB3 | Gene ID | 841 | 4709 |
Gene name | caspase 8 | NADH:ubiquinone oxidoreductase subunit B3 | |
Synonyms | ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5 | B12|CI-B12|MC1DN25 | |
Cytomap | ('CASP8')('NDUFB3') 2q33.1 | 2q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | caspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relat | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDaNADH-ubiquinone oxidoreductase B12 subunitcomplex I-B12 | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | . | O43676 | |
Ensembl transtripts involved in fusion gene | ENST00000490682, ENST00000264274, ENST00000264275, ENST00000392258, ENST00000392259, ENST00000392266, ENST00000432109, ENST00000323492, ENST00000358485, | ||
Fusion gene scores | * DoF score | 10 X 7 X 10=700 | 4 X 3 X 6=72 |
# samples | 12 | 8 | |
** MAII score | log2(12/700*10)=-2.54432051622381 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/72*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CASP8 [Title/Abstract] AND NDUFB3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CASP8(202131514)-NDUFB3(201950182), # samples:1 CASP8(202098835)-NDUFB3(201950182), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. CASP8-NDUFB3 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 | CASP8 | GO:0006508 | proteolysis | 12888622 |
Hgene | CASP8 | GO:0036462 | TRAIL-activated apoptotic signaling pathway | 21785459 |
Hgene | CASP8 | GO:0045862 | positive regulation of proteolysis | 18387192 |
Hgene | CASP8 | GO:0097191 | extrinsic apoptotic signaling pathway | 21785459 |
Hgene | CASP8 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
![]() * 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 | LUAD | TCGA-49-4514-01A | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
ChimerDB4 | STAD | TCGA-CD-A487-01A | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
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Fusion Gene ORF analysis for CASP8-NDUFB3 |
![]() * 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 |
3UTR-3CDS | ENST00000490682 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
3UTR-3CDS | ENST00000490682 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
3UTR-3CDS | ENST00000490682 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264274 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264274 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264274 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264275 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264275 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000264275 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392258 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392258 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392258 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392259 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392259 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392259 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392266 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392266 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000392266 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000432109 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000432109 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
5UTR-3CDS | ENST00000432109 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264274 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264274 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264274 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264275 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264275 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000264275 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000323492 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000323492 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000323492 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000358485 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000358485 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000358485 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392258 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392258 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392258 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392259 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392259 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392259 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392266 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392266 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000392266 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000432109 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000432109 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
Frame-shift | ENST00000432109 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000323492 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000323492 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000323492 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000358485 | ENST00000237889 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000358485 | ENST00000433898 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000358485 | ENST00000454214 | CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000490682 | ENST00000237889 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000490682 | ENST00000433898 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
intron-3CDS | ENST00000490682 | ENST00000454214 | CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950182 | + |
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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 CASP8-NDUFB3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950181 | + | 8.58E-09 | 1 |
CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950181 | + | 8.48E-11 | 1 |
CASP8 | chr2 | 202131514 | + | NDUFB3 | chr2 | 201950181 | + | 8.58E-09 | 1 |
CASP8 | chr2 | 202098835 | + | NDUFB3 | chr2 | 201950181 | + | 8.48E-11 | 1 |
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Fusion Protein Features for CASP8-NDUFB3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:202131514/:201950182) - 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 |
. | NDUFB3 |
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: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}. |
![]() * 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 CASP8-NDUFB3 |
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Fusion Gene PPI Analysis for CASP8-NDUFB3 |
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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 CASP8-NDUFB3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | NDUFB3 | O43676 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for CASP8-NDUFB3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CASP8 | C0006142 | Malignant neoplasm of breast | 4 | CGI;CTD_human |
Hgene | CASP8 | C0678222 | Breast Carcinoma | 4 | CGI;CTD_human |
Hgene | CASP8 | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human |
Hgene | CASP8 | C1458155 | Mammary Neoplasms | 4 | CTD_human |
Hgene | CASP8 | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human |
Hgene | CASP8 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | CASP8 | C0014859 | Esophageal Neoplasms | 2 | CTD_human |
Hgene | CASP8 | C0025202 | melanoma | 2 | CTD_human |
Hgene | CASP8 | C0546837 | Malignant neoplasm of esophagus | 2 | CTD_human |
Hgene | CASP8 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | CASP8 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | CASP8 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Hgene | CASP8 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Hgene | CASP8 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Hgene | CASP8 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Hgene | CASP8 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | CASP8 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Hgene | CASP8 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | CASP8 | C0013604 | Edema | 1 | CTD_human |
Hgene | CASP8 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | CASP8 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | CASP8 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | CASP8 | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Hgene | CASP8 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Hgene | CASP8 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | CASP8 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | CASP8 | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | CASP8 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | CASP8 | C0151603 | Anasarca | 1 | CTD_human |
Hgene | CASP8 | C0162351 | Contact hypersensitivity | 1 | CTD_human |
Hgene | CASP8 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Hgene | CASP8 | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
Hgene | CASP8 | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
Hgene | CASP8 | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
Hgene | CASP8 | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
Hgene | CASP8 | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
Hgene | CASP8 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | CASP8 | C0270823 | Petit mal status | 1 | CTD_human |
Hgene | CASP8 | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET |
Hgene | CASP8 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Hgene | CASP8 | C0343641 | Human papilloma virus infection | 1 | CTD_human |
Hgene | CASP8 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Hgene | CASP8 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Hgene | CASP8 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Hgene | CASP8 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Hgene | CASP8 | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
Hgene | CASP8 | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Hgene | CASP8 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | CASP8 | C2931456 | Prostate cancer, familial | 1 | CTD_human |
Hgene | CASP8 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Hgene | CASP8 | C4048328 | cervical cancer | 1 | CTD_human |
Hgene | CASP8 | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |
Tgene | C1838979 | MITOCHONDRIAL COMPLEX I DEFICIENCY | 3 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4748806 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | 2 | GENOMICS_ENGLAND;UNIPROT |