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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:ACTA2-COL6A1 (FusionGDB2 ID:HG59TG1291) |
Fusion Gene Summary for ACTA2-COL6A1 |
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Fusion gene information | Fusion gene name: ACTA2-COL6A1 | Fusion gene ID: hg59tg1291 | Hgene | Tgene | Gene symbol | ACTA2 | COL6A1 | Gene ID | 59 | 1291 |
Gene name | actin alpha 2, smooth muscle | collagen type VI alpha 1 chain | |
Synonyms | ACTSA | BTHLM1|OPLL|UCHMD1 | |
Cytomap | ('ACTA2')('COL6A1') 10q23.31 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | actin, aortic smooth muscleactin, alpha 2, smooth muscle, aortaalpha-cardiac actincell growth-inhibiting gene 46 protein | collagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1epididymis secretory sperm binding protein | |
Modification date | 20200313 | 20200328 | |
UniProtAcc | . | P12109 | |
Ensembl transtripts involved in fusion gene | ENST00000224784, ENST00000458208, ENST00000480297, | ||
Fusion gene scores | * DoF score | 4 X 6 X 3=72 | 12 X 13 X 6=936 |
# samples | 6 | 15 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/936*10)=-2.64154602908752 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACTA2 [Title/Abstract] AND COL6A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACTA2(90694833)-COL6A1(47407069), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ACTA2-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACTA2-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ACTA2-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ACTA2-COL6A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ACTA2-COL6A1 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 |
![]() * 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 | SARC | TCGA-DX-A7EM-01A | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
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Fusion Gene ORF analysis for ACTA2-COL6A1 |
![]() * 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 | ENST00000224784 | ENST00000498614 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
5CDS-intron | ENST00000458208 | ENST00000498614 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
Frame-shift | ENST00000224784 | ENST00000361866 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
In-frame | ENST00000458208 | ENST00000361866 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
intron-3CDS | ENST00000480297 | ENST00000361866 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
intron-intron | ENST00000480297 | ENST00000498614 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + |
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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) |
ENST00000458208 | ACTA2 | chr10 | 90694833 | - | ENST00000361866 | COL6A1 | chr21 | 47407069 | + | 5163 | 1756 | 1936 | 4125 | 729 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000458208 | ENST00000361866 | ACTA2 | chr10 | 90694833 | - | COL6A1 | chr21 | 47407069 | + | 0.003617902 | 0.9963821 |
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Fusion Genomic Features for ACTA2-COL6A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ACTA2 | chr10 | 90694832 | - | COL6A1 | chr21 | 47407068 | + | 0.4207831 | 0.5792169 |
ACTA2 | chr10 | 90694832 | - | COL6A1 | chr21 | 47407068 | + | 0.4207831 | 0.5792169 |
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Fusion Protein Features for ACTA2-COL6A1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:90694833/chr21:47407069) - 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 |
. | COL6A1 |
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: Collagen VI acts as a cell-binding protein. |
![]() * 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 |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 615_805 | 239 | 1029.0 | Domain | VWFA 2 | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 829_1021 | 239 | 1029.0 | Domain | VWFA 3 | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 262_264 | 239 | 1029.0 | Motif | Note=Cell attachment site | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 442_444 | 239 | 1029.0 | Motif | Note=Cell attachment site | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 478_480 | 239 | 1029.0 | Motif | Note=Cell attachment site | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 257_592 | 239 | 1029.0 | Region | Note=Triple-helical region | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 593_1028 | 239 | 1029.0 | Region | Note=C-terminal globular domain |
- 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 |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 37_235 | 239 | 1029.0 | Domain | VWFA 1 | |
Tgene | COL6A1 | chr10:90694833 | chr21:47407069 | ENST00000361866 | 4 | 35 | 20_256 | 239 | 1029.0 | Region | Note=N-terminal globular domain |
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Fusion Gene Sequence for ACTA2-COL6A1 |
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>1562_1562_1_ACTA2-COL6A1_ACTA2_chr10_90694833_ENST00000458208_COL6A1_chr21_47407069_ENST00000361866_length(transcript)=5163nt_BP=1756nt CTCTCCCCGCCCCCGCGGGGCGGCGCGCACTCACCCACCCGCGCCGGAGCGGACCTTTGGCTTGGCTTGTCAGGGCTTGTCCAGGAGTTC CGCTCCTCTCTCCAACCGGGGTCCCCCTCCAGCGACCCTAAAGCTTCCCAGACTTCCGCTTCAATTCCTGTCCGCACCCCACGCCCACCT CAACGTGGAGCGCAGTGGTCTCCGAGGAGCGCCGGAGCTGCCCCGCCTGCCCAGCGGGGTCAGCACTTCGCATCAAGGCCCAAGAAAAGC AAGTCCTCCAGCGTTCTGAGCACCCGGGCCTGAGGGAAGGTCCTAACAGCCCCCGGGAGCCAGTCTCCAACGCCTCCCGCAGCAGCCCGC CGCTCCCAGGTGCCCGCGTGCGCCGCTGCCGCCGCAATCCCGCACGCGTCCCGCGCCCGCCCCACTTTGCCTATCCCCGGGACTAAGACG GGAATCCTGTGAAGCAGCTCCAGCTATGTGTGAAGAAGAGGACAGCACTGCCTTGGTGTGTGACAATGGCTCTGGGCTCTGTAAGGCCGG CTTTGCTGGGGACGATGCTCCCAGGGCTGTTTTCCCATCCATTGTGGGACGTCCCAGACATCAGGGGGTGATGGTGGGAATGGGACAAAA AGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGA CGACATGGAAAAGATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCT GAACCCCAAGGCCAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCT GTCTCTCTATGCCTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGC CTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTT CGTTACTACTGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGC CGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGAC CCTGTTCCAGCCATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAG GAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCT AGCACCCAGCACCATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTC CACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCT GCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGA CTCGTTACCTATGTGTTTTTTAATAAATCTGAAATAGGCTACTGGTAAAAATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCC TGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGG AGATCCTGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATGAAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGG ACCCAAGGGCTACAAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGG CTGCAAGGGCTCGCCCGGGTTTGACGGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGG CGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGG AGAGAAAGGAGAGGCGGGCGACGAGGGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGG GACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGGTGAAGCTGGCCCGCAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGG AGACCCGGGCGAGGCTGGCCCTATCGGACCTAAAGGCTACCGAGGCGATGAGGGTCCCCCAGGGTCCGAGGGTGCCAGAGGAGCCCCAGG ACCTGCCGGACCCCCTGGAGACCCGGGGCTGATGGGTGAAAGGGGAGAAGACGGCCCCGCTGGAAATGGCACCGAGGGCTTCCCCGGCTT CCCCGGGTATCCGGGCAACAGGGGCGCTCCCGGGATAAACGGCACGAAGGGCTACCCCGGCCTCAAGGGGGACGAGGGAGAAGCCGGGGA CCCCGGAGACGATAACAACGACATTGCACCCCGAGGAGTCAAAGGAGCAAAGGGGTACCGGGGTCCCGAGGGCCCCCAGGGACCCCCAGG ACACCAAGGACCGCCTGGGCCGGACGAATGCGAGATTTTGGACATCATCATGAAAATGTGCTCTTGCTGTGAATGCAAGTGCGGCCCCAT CGACCTCCTGTTCGTGCTGGACAGCTCAGAGAGCATTGGCCTGCAGAACTTCGAGATTGCCAAGGACTTCGTCGTCAAGGTCATCGACCG GCTGAGCCGGGACGAGCTGGTCAAGTTCGAGCCAGGGCAGTCGTACGCGGGTGTGGTGCAGTACAGCCACAGCCAGATGCAGGAGCACGT GAGCCTGCGCAGCCCCAGCATCCGGAACGTGCAGGAGCTCAAGGAAGCCATCAAGAGCCTGCAGTGGATGGCGGGCGGCACCTTCACGGG GGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCCGCCCAGCCCGAACAACCGCATCGCCCTGGTCATCACTGACGGGCGCTCAGACAC TCAGAGGGACACCACACCGCTCAACGTGCTCTGCAGCCCCGGCATCCAGGTGGTCTCCGTGGGCATCAAAGACGTGTTTGACTTCATCCC AGGCTCAGACCAGCTCAATGTCATTTCTTGCCAAGGCCTGGCACCATCCCAGGGCCGGCCCGGCCTCTCGCTGGTCAAGGAGAACTATGC AGAGCTGCTGGAGGATGCCTTCCTGAAGAATGTCACCGCCCAGATCTGCATAGACAAGAAGTGTCCAGATTACACCTGCCCCATCACGTT CTCCTCCCCGGCTGACATCACCATCCTGCTGGACGGCTCCGCCAGCGTGGGCAGCCACAACTTTGACACCACCAAGCGCTTCGCCAAGCG CCTGGCCGAGCGCTTCCTCACAGCGGGCAGGACGGACCCCGCCCACGACGTGCGGGTGGCGGTGGTGCAGTACAGCGGCACGGGCCAGCA GCGCCCAGAGCGGGCGTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTGCCGTCGATGCCATGGACTTTATCAACGACGCCAC CGACGTCAACGATGCCCTGGGCTATGTGACCCGCTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGCTGCTGCTCTTCTCAGA TGGCAACTCGCAGGGCGCCACGCCCGCTGCCATCGAGAAGGCCGTGCAGGAAGCCCAGCGGGCAGGCATCGAGATCTTCGTGGTGGTCGT GGGCCGCCAGGTGAATGAGCCCCACATCCGCGTCCTGGTCACCGGCAAGACGGCCGAGTACGACGTGGCCTACGGCGAGAGCCACCTGTT CCGTGTCCCCAGCTACCAGGCCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCGCTGGGCTAGCCCACCCTGCACGC CGGCACCAAACCCTGTCCTCCCACCCCTCCCCACTCATCACTAAACAGAGTAAAATGTGATGCGAATTTTCCCGACCAACCTGATTCGCT AGATTTTTTTTAAGGAAAAGCTTGGAAAGCCAGGACACAACGCTGCTGCCTGCTTTGTGCAGGGTCCTCCGGGGCTCAGCCCTGAGTTGG CATCACCTGCGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTAGTGTCACCTGCACAGGGCCCTCTGAGGCTCAGCCCTGAGCTGGCGTCAC CTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTGGCCTCACCTGGGTTCCCCACCCCGGGCTCTCCTGCCCTGCCCTCCTGCCCGCCCT CCCTCCTGCCTGCGCAGCTCCTTCCCTAGGCACCTCTGTGCTGCATCCCACCAGCCTGAGCAAGACGCCCTCTCGGGGCCTGTGCCGCAC TAGCCTCCCTCTCCTCTGTCCCCATAGCTGGTTTTTCCCACCAATCCTCACCTAACAGTTACTTTACAATTAAACTCAAAGCAAGCTCTT CTCCTCAGCTTGGGGCAGCCATTGGCCTCTGTCTCGTTTTGGGAAACCAAGGTCAGGAGGCCGTTGCAGACATAAATCTCGGCGACTCGG CCCCGTCTCCTGAGGGTCCTGCTGGTGACCGGCCTGGACCTTGGCCCTACAGCCCTGGAGGCCGCTGCTGACCAGCACTGACCCCGACCT CAGAGAGTACTCGCAGGGGCGCTGGCTGCACTCAAGACCCTCGAGATTAACGGTGCTAACCCCGTCTGCTCCTCCCTCCCGCAGAGACTG GGGCCTGGACTGGACATGAGAGCCCCTTGGTGCCACAGAGGGCTGTGTCTTACTAGAAACAACGCAAACCTCTCCTTCCTCAGAATAGTG ATGTGTTCGACGTTTTATCAAAGGCCCCCTTTCTATGTTCATGTTAGTTTTGCTCCTTCTGTGTTTTTTTCTGAACCATATCCATGTTGC >1562_1562_1_ACTA2-COL6A1_ACTA2_chr10_90694833_ENST00000458208_COL6A1_chr21_47407069_ENST00000361866_length(amino acids)=729AA_BP=56 MKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSG PSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRG DEGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNNDIAPRGVKG AKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSY AGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLNVLCSPGI QVVSVGIKDVFDFIPGSDQLNVISCQGLAPSQGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSAS VGSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFINDATDVNDALGYVTRFYRE ASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQ -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ACTA2-COL6A1 |
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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 ACTA2-COL6A1 |
![]() (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 ACTA2-COL6A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTA2 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 7 | CLINGEN;GENOMICS_ENGLAND |
Hgene | ACTA2 | C2673186 | Aortic Aneurysm, Familial Thoracic 6 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTA2 | C3279690 | MOYAMOYA DISEASE 5 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACTA2 | C0023890 | Liver Cirrhosis | 3 | CTD_human |
Hgene | ACTA2 | C0239946 | Fibrosis, Liver | 3 | CTD_human |
Hgene | ACTA2 | C3151201 | MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME | 3 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTA2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Hgene | ACTA2 | C0026654 | Moyamoya Disease | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | ACTA2 | C2931384 | Moyamoya disease 1 | 2 | ORPHANET |
Hgene | ACTA2 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
Hgene | ACTA2 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
Hgene | ACTA2 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Hgene | ACTA2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Hgene | ACTA2 | C0014175 | Endometriosis | 1 | CTD_human |
Hgene | ACTA2 | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
Hgene | ACTA2 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
Hgene | ACTA2 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
Hgene | ACTA2 | C0022116 | Ischemia | 1 | CTD_human |
Hgene | ACTA2 | C0022658 | Kidney Diseases | 1 | CTD_human |
Hgene | ACTA2 | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | ACTA2 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Hgene | ACTA2 | C0027719 | Nephrosclerosis | 1 | CTD_human |
Hgene | ACTA2 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | ACTA2 | C0036421 | Systemic Scleroderma | 1 | CTD_human |
Hgene | ACTA2 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Hgene | ACTA2 | C0086432 | Hyalinosis, Segmental Glomerular | 1 | CTD_human |
Hgene | ACTA2 | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | ACTA2 | C0149519 | Chronic Persistent Hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Hgene | ACTA2 | C0269102 | Endometrioma | 1 | CTD_human |
Hgene | ACTA2 | C0340630 | Aortic Aneurysm, Thoracoabdominal | 1 | CTD_human |
Hgene | ACTA2 | C0520463 | Chronic active hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0524611 | Cryptogenic Chronic Hepatitis | 1 | CTD_human |
Hgene | ACTA2 | C0678222 | Breast Carcinoma | 1 | CTD_human |
Hgene | ACTA2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | ACTA2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTA2 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
Hgene | ACTA2 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
Hgene | ACTA2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
Hgene | ACTA2 | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Tgene | C1834674 | BETHLEM MYOPATHY 1 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0410179 | Ullrich congenital muscular dystrophy 1 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0000786 | Spontaneous abortion | 1 | CTD_human | |
Tgene | C0000822 | Abortion, Tubal | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0026850 | Muscular Dystrophy | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human | |
Tgene | C1135196 | Heart Failure, Diastolic | 1 | CTD_human | |
Tgene | C3830362 | Early Pregnancy Loss | 1 | CTD_human | |
Tgene | C4552766 | Miscarriage | 1 | CTD_human |