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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:COX6C-AFF4 (FusionGDB2 ID:HG1345TG27125) |
Fusion Gene Summary for COX6C-AFF4 |
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Fusion gene information | Fusion gene name: COX6C-AFF4 | Fusion gene ID: hg1345tg27125 | Hgene | Tgene | Gene symbol | COX6C | AFF4 | Gene ID | 1345 | 27125 |
Gene name | cytochrome c oxidase subunit 6C | AF4/FMR2 family member 4 | |
Synonyms | - | AF5Q31|CHOPS|MCEF | |
Cytomap | ('COX6C')('AFF4') 8q22.2 | 5q31.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome c oxidase subunit 6Ccytochrome c oxidase polypeptide VIccytochrome c oxidase subunit VIc preproteinepididymis secretory sperm binding protein | AF4/FMR2 family member 4ALL1-fused gene from chromosome 5q31 proteinmajor CDK9 elongation factor-associated protein | |
Modification date | 20200313 | 20200315 | |
UniProtAcc | P09669 | Q9UHB7 | |
Ensembl transtripts involved in fusion gene | ENST00000297564, ENST00000517682, ENST00000518171, ENST00000520271, ENST00000520468, ENST00000522940, ENST00000523016, ENST00000524245, | ||
Fusion gene scores | * DoF score | 21 X 14 X 5=1470 | 8 X 9 X 3=216 |
# samples | 21 | 8 | |
** MAII score | log2(21/1470*10)=-2.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/216*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COX6C [Title/Abstract] AND AFF4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COX6C(100899800)-AFF4(132270576), # 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 |
![]() * 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 COX6C-AFF4 |
![]() * 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 COX6C-AFF4 |
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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 COX6C-AFF4 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:100899800/:132270576) - 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 |
COX6C | AFF4 |
FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P04038}. | FUNCTION: Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:23251033}. |
![]() * 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 COX6C-AFF4 |
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Fusion Gene PPI Analysis for COX6C-AFF4 |
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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 COX6C-AFF4 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | COX6C | P09669 | DB02659 | Cholic Acid | Small molecule | Approved |
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Related Diseases for COX6C-AFF4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0000772 | Multiple congenital anomalies | 1 | CTD_human | |
Tgene | C0005941 | Bone Diseases, Developmental | 1 | CTD_human | |
Tgene | C0009241 | Cognition Disorders | 1 | CTD_human | |
Tgene | C0018273 | Growth Disorders | 1 | CTD_human | |
Tgene | C0018798 | Congenital Heart Defects | 1 | CTD_human | |
Tgene | C0024115 | Lung diseases | 1 | CTD_human | |
Tgene | C0028754 | Obesity | 1 | CTD_human | |
Tgene | C0282631 | Facies | 1 | CTD_human | |
Tgene | C4085597 | CHOPS SYNDROME | 1 | CTD_human;ORPHANET;UNIPROT |