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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:COX6A1-CAPZA1 (FusionGDB2 ID:HG1337TG829) |
Fusion Gene Summary for COX6A1-CAPZA1 |
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Fusion gene information | Fusion gene name: COX6A1-CAPZA1 | Fusion gene ID: hg1337tg829 | Hgene | Tgene | Gene symbol | COX6A1 | CAPZA1 | Gene ID | 1337 | 829 |
Gene name | cytochrome c oxidase subunit 6A1 | capping actin protein of muscle Z-line subunit alpha 1 | |
Synonyms | CMTRID|COX6A|COX6AL | CAPPA1|CAPZ|CAZ1 | |
Cytomap | ('COX6A1')('CAPZA1') 12q24.31|12q24.2 | 1p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cytochrome c oxidase subunit 6A1, mitochondrialCOX VIa-Lcytochrome C oxidase subunit VIa homologcytochrome c oxidase polypeptide VIa-livercytochrome c oxidase subunit VIA-livercytochrome c oxidase subunit VIa polypeptide 1 | F-actin-capping protein subunit alpha-1Cap ZcapZ alpha-1capping actin protein of muscle Z-line alpha subunit 1capping protein (actin filament) muscle Z-line, alpha 1 | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | P52907 | |
Ensembl transtripts involved in fusion gene | ENST00000229379, | ||
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 10 X 11 X 5=550 |
# samples | 5 | 10 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/550*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COX6A1 [Title/Abstract] AND CAPZA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | COX6A1(120876324)-CAPZA1(113201643), # 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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | OV | TCGA-09-2056 | COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + |
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Fusion Gene ORF analysis for COX6A1-CAPZA1 |
![]() * 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-3UTR | ENST00000229379 | ENST00000476936 | COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + |
In-frame | ENST00000229379 | ENST00000263168 | COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + |
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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) |
ENST00000229379 | COX6A1 | chr12 | 120876324 | + | ENST00000263168 | CAPZA1 | chr1 | 113201643 | + | 2205 | 283 | 16 | 717 | 233 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000229379 | ENST00000263168 | COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + | 0.000490031 | 0.99950993 |
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Fusion Genomic Features for COX6A1-CAPZA1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + | 7.67E-12 | 1 |
COX6A1 | chr12 | 120876324 | + | CAPZA1 | chr1 | 113201643 | + | 7.67E-12 | 1 |
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Fusion Protein Features for COX6A1-CAPZA1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:120876324/chr1:113201643) - 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 |
. | CAPZA1 |
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: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions. {ECO:0000269|PubMed:22891260}. |
![]() * 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 |
Hgene | COX6A1 | chr12:120876324 | chr1:113201643 | ENST00000229379 | + | 2 | 3 | 25_34 | 82 | 110.0 | Topological domain | Mitochondrial matrix |
Hgene | COX6A1 | chr12:120876324 | chr1:113201643 | ENST00000229379 | + | 2 | 3 | 35_59 | 82 | 110.0 | Transmembrane | Helical |
- 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 |
Hgene | COX6A1 | chr12:120876324 | chr1:113201643 | ENST00000229379 | + | 2 | 3 | 60_109 | 82 | 110.0 | Topological domain | Mitochondrial intermembrane |
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Fusion Gene Sequence for COX6A1-CAPZA1 |
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>18802_18802_1_COX6A1-CAPZA1_COX6A1_chr12_120876324_ENST00000229379_CAPZA1_chr1_113201643_ENST00000263168_length(transcript)=2205nt_BP=283nt ACTTCCGCTTCCGGCGCTGCGGCAGTCCAGATCAAAAATGGCGGTAGTTGGTGTGTCCTCGGTTTCTCGGCTGCTGGGTCGGTCCCGCCC ACAGCTGGGGCGGCCTATGTCGAGTGGCGCCCATGGCGAAGAGGGCTCAGCTCGCATGTGGAAGACTCTCACCTTCTTCGTCGCGCTCCC CGGGGTGGCAGTCAGCATGCTGAATGTGTACCTGAAGTCGCACCACGGAGAGCACGAGAGACCCGAGTTCATCGCCTACCCCCATCTCCG CATCAGGACCAAGGTTTATGCTAAAACTATCGATGGGCAACAGACTATTATTGCATGTATTGAAAGCCACCAGTTTCAGCCTAAAAACTT CTGGAATGGTCGTTGGAGATCAGAGTGGAAGTTCACCATCACACCACCTACAGCCCAGGTGGTTGGCGTGCTTAAGATTCAGGTTCACTA TTATGAAGATGGCAATGTTCAGTTGGTTAGTCATAAAGATGTACAGGATTCACTAACTGTTTCGAATGAAGCCCAAACTGCCAAGGAGTT TATTAAAATCATAGAGAATGCAGAAAATGAGTATCAGACAGCAATTAGTGAAAACTATCAAACAATGTCAGATACCACATTCAAGGCCTT GCGCCGGCAGCTTCCAGTTACCCGCACCAAAATCGACTGGAACAAGATACTCAGCTACAAGATTGGCAAAGAAATGCAGAATGCTTAAAG GCTGAATGTAGGATTCTTCAGTATGTGGAAAGACAAGGATTCAACGTGTGGTCATATGATAAATAAGTGATTTATAAACAAGAGTGATAT TTTGCTAGGGCTTTCAAAGTTAACCGGTTTTCTAGCCTCATGGAATACTGTTGAACCTATAGCGTTGTCTTGATTCTTTTGTGTTCTCTG CCTTGTAATTTTCTGTTACTGCTATATCTACGTGTAAATCTTTTTTTCTTTTTTTTTTTTTTTTTTTGGTTAATTCTGCCACATTTAATG TTGGTGAGAGAGTGATCTATCCTAATGACATTTTACTGTTTAAAAAAGTTTCCTAGCCATGAAGCCCTGCTACTGATTTAGACAAGGTAT TATGGTCATTACTTTGTACCCCTATCCTTCCAAGCACTTCTGGTACTTCAGTCGTTTTTACTGATCCACCAACACCTAAAGAGGCTATGC TACAGTCTCTAGCTAAATGGAAGACACATTCATCCTTCTCCCTCTGACTGCTTTGATCATCATTTATTGCATCTCATAACTAATTTTCTA AAGTTTGGATTGGGACTTTTCAGGTCCTTTTTGGAGGGCAAAGGAAGTGCCAGCTTCTCTGGGGAACTTGTTTTTAAATCCAAAGACTTG AACCACATTCCCTGCACATGAACATGTTTGCTTTTATCCCTTCTCTCATTGTCTCCTTCCCATCTTAGTACCATTGTAGTTATAAACATC TGCATTTTTTAGAAGCATTTTACCCATTTATTTTTTTAAACATTCAAGAACTGCTGACGTACTGTGGATGTAGAGTATAAAACTTGAAAA ATGCAGATGTTGAAGGAATAATAGGTATCTTGTGCTTTAATACTTTATGGCAGGATTGTACTATAAGCAAATGAATTAAACAGCTATGTA AATCATAAAGAAAAACTAAAAATGAACCAAAGTGAAAGGATAACTTCCAGGCAGTATCTTTCTATTGTAACCTGTTATTTAAGGAAATAC TAGTGATTTCTTCTAAATAGGATGTAAAACTTCTTTCAAATTACTCTTCCTCAGTCCTGCCTGCCAAGAACTCAAGTGTAACTGTGATAA AATAACCTTTCCCAGGTATATTGGCAGGTATGTGTGTAATCTCAGAATACACAGGTGACATAGATATGATATGACAACTGGTAATGGTGG ATTCATTTACATTGTTTACACTTCTATGACCAGGCCTTAAGGGAAGGTCAGTTTTTTAAAAAACCAAGTAGTGTCTTCCTACCTATCTCC AGATACATGTCAAAAAAAGAAAGGTGTTTGTGCTTCCGTTTTGTTTCTGCTCAGTAATATAGTCAAGCAAGTTTGTTCCAGGTGACCCAT TGAGCTGTGTATGCATTTTTGTTTATTTCAATAAAATATATTTGTATTATTTGTCCTTCATACTATCCATCCATACCACACTATCTTCTG >18802_18802_1_COX6A1-CAPZA1_COX6A1_chr12_120876324_ENST00000229379_CAPZA1_chr1_113201643_ENST00000263168_length(amino acids)=233AA_BP=89 MRQSRSKMAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKV YAKTIDGQQTIIACIESHQFQPKNFWNGRWRSEWKFTITPPTAQVVGVLKIQVHYYEDGNVQLVSHKDVQDSLTVSNEAQTAKEFIKIIE -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for COX6A1-CAPZA1 |
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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 COX6A1-CAPZA1 |
![]() (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 COX6A1-CAPZA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COX6A1 | C4015029 | CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |