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Fusion gene ID: 518 |
FusionGeneSummary for ACTB_COL17A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACTB_COL17A1 | Fusion gene ID: 518 | Hgene | Tgene | Gene symbol | ACTB | COL17A1 | Gene ID | 60 | 1308 |
| Gene name | actin beta | collagen type XVII alpha 1 chain | |
| Synonyms | BRWS1|PS1TP5BP1 | BA16H23.2|BP180|BPA-2|BPAG2|ERED|LAD-1 | |
| Cytomap | 7p22.1 | 10q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | collagen alpha-1(XVII) chain180 kDa bullous pemphigoid antigen 2alpha 1 type XVII collagenbA16H23.2 (collagen, type XVII, alpha 1 (BP180))bullous pemphigoid antigen 2 (180kD)collagen XVII, alpha-1 polypeptidecollagen, type XVII, alpha 1type XVII co | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P60709 | Q9UMD9 | |
| Ensembl transtripts involved in fusion gene | ENST00000464611, ENST00000331789, | ENST00000369733, ENST00000353479, ENST00000480127, ENST00000393211, | |
| Fusion gene scores | * DoF score | 28 X 19 X 14=7448 | 2 X 3 X 3=18 |
| # samples | 37 | 3 | |
| ** MAII score | log2(37/7448*10)=-4.33125589704248 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ACTB [Title/Abstract] AND COL17A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
| Tgene | COL17A1 | GO:0031581 | hemidesmosome assembly | 12482924 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | HNSC | TCGA-CV-7104-01A | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| TCGA | RV | LUAD | TCGA-78-7542-01A | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| intron-3CDS | ENST00000464611 | ENST00000369733 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| intron-3CDS | ENST00000464611 | ENST00000353479 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| intron-intron | ENST00000464611 | ENST00000480127 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| intron-intron | ENST00000464611 | ENST00000393211 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| In-frame | ENST00000331789 | ENST00000369733 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| In-frame | ENST00000331789 | ENST00000353479 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| 5CDS-intron | ENST00000331789 | ENST00000480127 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| 5CDS-intron | ENST00000331789 | ENST00000393211 | ACTB | chr7 | 5569166 | - | COL17A1 | chr10 | 105801102 | - |
| intron-5UTR | ENST00000464611 | ENST00000369733 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-5UTR | ENST00000464611 | ENST00000353479 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-intron | ENST00000464611 | ENST00000480127 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-intron | ENST00000464611 | ENST00000393211 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-5UTR | ENST00000331789 | ENST00000369733 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-5UTR | ENST00000331789 | ENST00000353479 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-intron | ENST00000331789 | ENST00000480127 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
| intron-intron | ENST00000331789 | ENST00000393211 | ACTB | chr7 | 5567255 | - | COL17A1 | chr10 | 105845629 | - |
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FusionProtFeatures for ACTB_COL17A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACTB | COL17A1 |
| May play a role in the integrity of hemidesmosome andthe attachment of basal keratinocytes to the underlying basementmembrane. The 120 kDa linear IgA disease antigen is an anchoringfilament component involved in dermal-epidermal cohesion. Is thetarget of linear IgA bullous dermatosis autoantibodies. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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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FusionGeneSequence for ACTB_COL17A1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000369733_chr10_105801102_-_588aa MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGLPFQAHQDPEAHQGRVCQAHQAHQDRSCPTQKPSSPAPQAHLAPQVPR ETKVIQVFQGLLAFLVVLLKGDHQVPCTCQARQGPLGPLGLRALSAALARRFSSTSLSTCRVTVLDLTYPEFRVPQAHLVPQDLSPPSQA RLSTTQSWQATLXATYGLRGTVSACSRPPSLLKTFWLCCSGMTCVSTYVSTXWALGVRQGHQEPVEMGPSCLWTMQSXVVAFSATCRVLG SALGFLVPRGPLACREPPMRSSSPCCELPACHSSQALQDLLVPQGLEGPRVSQEPWQPMQLKTATASGASXSATSQVLMCAASLLAPQAL LGRRDPLGTAASCPRMPPTVGVAAPPHTAHLSGGAAPTALPXAQEEVVQAPWVQAVPLVKLQETGVPMALTSAQAEAMGQQQKAACMLAM ADYWELTLLEIWITMSWLXGCQRACSVRAYCKGWPTLSRAHQASLGHRGHPASARSSLPTATXLRTSWTSSKLMEPFKDPLGKKERWALQ >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000353479_chr10_105801102_-_670aa MDDDIAALVVDNGSGMCKAGFAGDDAPRAVFPSIVGRPRHQGLPFQAHQDPEAHQGRVCQAHQAHQDRSCPTQKPSSPAPQAHLAPQVPR ETKVPQAPEDTKASKASQVSQPQGPVLSDSTFRDHQAHLAPRDPKVTKVIQVFQGLLAFLVVLLKGDHQVPCTCQARQGPLGPLGLRALS AALARRFSSTSLSTCRVTVLDLTYPEFRVPQAHLVPQDLSPPSQARLSTTQSWQATLXATYGLRGTVSACSRPPSLLKTFWLCCSGMTCV STYVSTXWALGVRQGHQEPVEMGPSCLWTMQSXVVAFSATCRVLGSALGFLVPRGPLACREPPMRSSSPCCEGLNSEASLDPQVPRVHQG SQAMCGPASAWRTSRLTYILPACHSSQALQDLLVPQGLEGPRVSQEPWQPMQLKTATASGASXSATSQVLMCAASLLAPQALLGRRDPLG TAASCPRMPPTVGVAAPPHTAHLSGGAAPTALPXAQEEVVQAPWVQAVPLVKLQETGVPMALTSAQAEAMGQQQKAACMLAMADYWELTL LEIWITMSWLXGCQRACSVRAYCKGWPTLSRAHQASLGHRGHPASARSSLPTATXLRTSWTSSKLMEPFKDPLGKKERWALQDPKVTGAL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000369733_chr10_105801102_-_1766nt ATGGATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGCTTCGCGGGCGACGATGCCCCCCGGGCCGTC TTCCCCTCCATCGTGGGGCGCCCCAGGCACCAGGGCCTTCCATTCCAGGCCCACCAGGACCCCGAGGCCCACCAGGGGAGGGTTTGCCAG GCCCACCAGGCCCACCAGGATCGTTCCTGTCCAACTCAGAAACCTTCCTCTCCGGCCCCCCAGGCCCACCTGGCCCCCCAGGTCCCAAGG GAGACCAAGGTGATCCAGGTGTTCCAGGGGCTCTTGGCATTCCTAGTGGTCCTTCTGAAGGGGGATCATCAAGTACCATGTACGTGTCAG GCCCGCCAGGGCCCCCTGGGCCCCCTGGGCCTCCGGGCTCTATCAGCAGCTCTGGCCAGGAGATTCAGCAGTACATCTCTGAGTACATGC AGAGTGACAGTATTAGATCTTACCTATCCGGAGTTCAGGGTCCCCCAGGCCCACCTGGTCCCCCAGGACCTGTCACCACCATCACAGGCG AGACTTTCGACTACTCAGAGCTGGCAAGCCACGTTGTGAGCTACTTACGGACTTCGGGGTACGGTGTCAGCTTGTTCTCGTCCTCCATCT CTTCTGAAGACATTCTGGCTGTGCTGCAGCGGGATGACGTGCGTCAGTACCTACGTCAGTACTTGATGGGCCCTCGGGGTCCGCCAGGGC CACCAGGAGCCAGTGGAGATGGGTCCCTCCTGTCTTTGGACTATGCAGAGCTGAGTAGTCGCATTCTCAGCTACATGTCGAGTTCTGGGA TCAGCATTGGGCTTCCTGGTCCCCCGGGGCCCCCTGGCTTGCCGGGAACCTCCTATGAGGAGCTCCTCTCCTTGCTGCGAGCTGCCGGCT TGTCATTCATCCCAGGCCCTCCAGGACCTCCTGGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGGCAACCTATGCAG CTGAAAACAGCGACAGCTTCCGGAGCGAGCTGATCAGCTACCTCACAAGTCCTGATGTGCGCAGCTTCATTGTTGGCCCCCCAGGCCCTC CTGGGCCGCAGGGACCCCCTGGGGACAGCCGCCTCCTGTCCACGGATGCCTCCCACAGTCGGGGTAGCAGCTCCTCCTCACACAGCTCAT CTGTCAGGCGGGGCAGCTCCTACAGCTCTTCCATGAGCACAGGAGGAGGTGGTGCAGGCTCCCTGGGTGCAGGCGGTGCCTTTGGTGAAG CTGCAGGAGACAGGGGTCCCTATGGCACTGACATCGGCCCAGGCGGAGGCTATGGGGCAGCAGCAGAAGGCGGCATGTATGCTGGCAATG GCGGACTATTGGGAGCTGACTTTGCTGGAGATCTGGATTACAATGAGCTGGCTGTGAGGGTGTCAGAGAGCATGCAGCGTCAGGGCCTAC TGCAAGGGATGGCCTACACTGTCCAGGGCCCACCAGGCCAGCCTGGGCCACAGGGGCCACCCGGCATCAGCAAGGTCTTCTCTGCCTACA GCAACGTGACTGCGGACCTCATGGACTTCTTCCAAACTTATGGAGCCATTCAAGGACCCCCTGGGCAAAAAGGAGAGATGGGCACTCCAG GACCCAAAGGTGACAGGGGCCCTGCTGGGCCACCAGGTCATCCTGGGCCACCTGGCCCTCGAGGACACAAGGGAGAAAAAGGAGACAAAG >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000353479_chr10_105801102_-_2012nt ATGGATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGCTTCGCGGGCGACGATGCCCCCCGGGCCGTC TTCCCCTCCATCGTGGGGCGCCCCAGGCACCAGGGCCTTCCATTCCAGGCCCACCAGGACCCCGAGGCCCACCAGGGGAGGGTTTGCCAG GCCCACCAGGCCCACCAGGATCGTTCCTGTCCAACTCAGAAACCTTCCTCTCCGGCCCCCCAGGCCCACCTGGCCCCCCAGGTCCCAAGG GAGACCAAGGTCCCCCAGGCCCCAGAGGACACCAAGGCGAGCAAGGCCTCCCAGGTTTCTCAACCTCAGGGTCCAGTTCTTTCGGACTCA ACCTTCAGGGACCACCAGGCCCACCTGGCCCCCAGGGACCCAAAGGTGACAAAGGTGATCCAGGTGTTCCAGGGGCTCTTGGCATTCCTA GTGGTCCTTCTGAAGGGGGATCATCAAGTACCATGTACGTGTCAGGCCCGCCAGGGCCCCCTGGGCCCCCTGGGCCTCCGGGCTCTATCA GCAGCTCTGGCCAGGAGATTCAGCAGTACATCTCTGAGTACATGCAGAGTGACAGTATTAGATCTTACCTATCCGGAGTTCAGGGTCCCC CAGGCCCACCTGGTCCCCCAGGACCTGTCACCACCATCACAGGCGAGACTTTCGACTACTCAGAGCTGGCAAGCCACGTTGTGAGCTACT TACGGACTTCGGGGTACGGTGTCAGCTTGTTCTCGTCCTCCATCTCTTCTGAAGACATTCTGGCTGTGCTGCAGCGGGATGACGTGCGTC AGTACCTACGTCAGTACTTGATGGGCCCTCGGGGTCCGCCAGGGCCACCAGGAGCCAGTGGAGATGGGTCCCTCCTGTCTTTGGACTATG CAGAGCTGAGTAGTCGCATTCTCAGCTACATGTCGAGTTCTGGGATCAGCATTGGGCTTCCTGGTCCCCCGGGGCCCCCTGGCTTGCCGG GAACCTCCTATGAGGAGCTCCTCTCCTTGCTGCGAGGGTCTGAATTCAGAGGCATCGTTGGACCCCCAGGTCCCCCGGGTCCACCAGGGA TCCCAGGCAATGTGTGGTCCAGCATCAGCGTGGAGGACCTCTCGTCTTACTTACATACTGCCGGCTTGTCATTCATCCCAGGCCCTCCAG GACCTCCTGGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGGCAACCTATGCAGCTGAAAACAGCGACAGCTTCCGGA GCGAGCTGATCAGCTACCTCACAAGTCCTGATGTGCGCAGCTTCATTGTTGGCCCCCCAGGCCCTCCTGGGCCGCAGGGACCCCCTGGGG ACAGCCGCCTCCTGTCCACGGATGCCTCCCACAGTCGGGGTAGCAGCTCCTCCTCACACAGCTCATCTGTCAGGCGGGGCAGCTCCTACA GCTCTTCCATGAGCACAGGAGGAGGTGGTGCAGGCTCCCTGGGTGCAGGCGGTGCCTTTGGTGAAGCTGCAGGAGACAGGGGTCCCTATG GCACTGACATCGGCCCAGGCGGAGGCTATGGGGCAGCAGCAGAAGGCGGCATGTATGCTGGCAATGGCGGACTATTGGGAGCTGACTTTG CTGGAGATCTGGATTACAATGAGCTGGCTGTGAGGGTGTCAGAGAGCATGCAGCGTCAGGGCCTACTGCAAGGGATGGCCTACACTGTCC AGGGCCCACCAGGCCAGCCTGGGCCACAGGGGCCACCCGGCATCAGCAAGGTCTTCTCTGCCTACAGCAACGTGACTGCGGACCTCATGG ACTTCTTCCAAACTTATGGAGCCATTCAAGGACCCCCTGGGCAAAAAGGAGAGATGGGCACTCCAGGACCCAAAGGTGACAGGGGCCCTG CTGGGCCACCAGGTCATCCTGGGCCACCTGGCCCTCGAGGACACAAGGGAGAAAAAGGAGACAAAGGTGACCAAGTCTATGCTGGGCGGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000369733_chr10_105801102_-_2907nt GAGTGAGCGGCGCGGGGCCAATCAGCGTGCGCCGTTCCGAAAGTTGCCTTTTATGGCTCGAGCGGCCGCGGCGGCGCCCTATAAAACCCA GCGGCGCGACGCGCCACCACCGCCGAGACCGCGTCCGCCCCGCGAGCACAGAGCCTCGCCTTTGCCGATCCGCCGCCCGTCCACACCCGC CGCCAGCTCACCATGGATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGCTTCGCGGGCGACGATGCC CCCCGGGCCGTCTTCCCCTCCATCGTGGGGCGCCCCAGGCACCAGGGCCTTCCATTCCAGGCCCACCAGGACCCCGAGGCCCACCAGGGG AGGGTTTGCCAGGCCCACCAGGCCCACCAGGATCGTTCCTGTCCAACTCAGAAACCTTCCTCTCCGGCCCCCCAGGCCCACCTGGCCCCC CAGGTCCCAAGGGAGACCAAGGTGATCCAGGTGTTCCAGGGGCTCTTGGCATTCCTAGTGGTCCTTCTGAAGGGGGATCATCAAGTACCA TGTACGTGTCAGGCCCGCCAGGGCCCCCTGGGCCCCCTGGGCCTCCGGGCTCTATCAGCAGCTCTGGCCAGGAGATTCAGCAGTACATCT CTGAGTACATGCAGAGTGACAGTATTAGATCTTACCTATCCGGAGTTCAGGGTCCCCCAGGCCCACCTGGTCCCCCAGGACCTGTCACCA CCATCACAGGCGAGACTTTCGACTACTCAGAGCTGGCAAGCCACGTTGTGAGCTACTTACGGACTTCGGGGTACGGTGTCAGCTTGTTCT CGTCCTCCATCTCTTCTGAAGACATTCTGGCTGTGCTGCAGCGGGATGACGTGCGTCAGTACCTACGTCAGTACTTGATGGGCCCTCGGG GTCCGCCAGGGCCACCAGGAGCCAGTGGAGATGGGTCCCTCCTGTCTTTGGACTATGCAGAGCTGAGTAGTCGCATTCTCAGCTACATGT CGAGTTCTGGGATCAGCATTGGGCTTCCTGGTCCCCCGGGGCCCCCTGGCTTGCCGGGAACCTCCTATGAGGAGCTCCTCTCCTTGCTGC GAGCTGCCGGCTTGTCATTCATCCCAGGCCCTCCAGGACCTCCTGGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGG CAACCTATGCAGCTGAAAACAGCGACAGCTTCCGGAGCGAGCTGATCAGCTACCTCACAAGTCCTGATGTGCGCAGCTTCATTGTTGGCC CCCCAGGCCCTCCTGGGCCGCAGGGACCCCCTGGGGACAGCCGCCTCCTGTCCACGGATGCCTCCCACAGTCGGGGTAGCAGCTCCTCCT CACACAGCTCATCTGTCAGGCGGGGCAGCTCCTACAGCTCTTCCATGAGCACAGGAGGAGGTGGTGCAGGCTCCCTGGGTGCAGGCGGTG CCTTTGGTGAAGCTGCAGGAGACAGGGGTCCCTATGGCACTGACATCGGCCCAGGCGGAGGCTATGGGGCAGCAGCAGAAGGCGGCATGT ATGCTGGCAATGGCGGACTATTGGGAGCTGACTTTGCTGGAGATCTGGATTACAATGAGCTGGCTGTGAGGGTGTCAGAGAGCATGCAGC GTCAGGGCCTACTGCAAGGGATGGCCTACACTGTCCAGGGCCCACCAGGCCAGCCTGGGCCACAGGGGCCACCCGGCATCAGCAAGGTCT TCTCTGCCTACAGCAACGTGACTGCGGACCTCATGGACTTCTTCCAAACTTATGGAGCCATTCAAGGACCCCCTGGGCAAAAAGGAGAGA TGGGCACTCCAGGACCCAAAGGTGACAGGGGCCCTGCTGGGCCACCAGGTCATCCTGGGCCACCTGGCCCTCGAGGACACAAGGGAGAAA AAGGAGACAAAGGTGACCAAGTCTATGCTGGGCGGAGAAGGAGAAGAAGTATTGCTGTCAAGCCGTGAGCTAGCCATGGCAGGACAGCTC CTGGACCAGGTCTCATAATGCATGTGGCACTTAGGTCCAAGGTCTCCAGAGGGTGAAAGCTGGAGTCTGTCAATGTCCTACTGAGACAGC ACAGCCAACCTAGCTAGCAACATTTGTTTTAGTCTGAACAATATATACTTATAGAATTCAGTCAAAGATACACAATCTGAAACAGCTTCA TGGGGTGGACTCTAACAGTAGTTGCAATGTTTTAGAATGAGACTTACTTCTCTGCTATCTAGATCTGAACTCCTTGGCTTCTTTACTTAG TTCAAGCCCCAGCCTAGGAAAGCCAGTTACATAAAAGTTGGCTCAGGAGTCTTAGAGCTTTACCTAAATATGAGCCCAGAAAACGGAGGA TGGGGGTGGGGCGCCTTCCTGGAGGTGACACTTGATGGGGGTGTGTTCTGGTTACTGTTCTAAGGCTGTGCCATCAGCTCCTTCCTCCCC TGTTCATTCTGCATTCTCTAGTCAGTTGGCTAAGAAGTGACTCTTGCAACTAAAAAAATTAAGAAATTCACTTCCCCTCTAGGAGGTGAT GATAGGGTTTCTAATGGTTATATGTATATCACATTCCCATTTGCTTAGAAAGTCTGATTGTAGCTATGATTGTCCGTAGGCCCATACTAG AGTTCATGGATATGTTATACTGAACCAGGCCAGAGCAAACAGAAAAAGAAGGTTGAGGGCAATGGACAAGGAAGGAATAAAGGGAGAAGA GGGAAAACAGAAAACCTGATGCTGGGGACACAGCATCAGCTCAAGACGTCACCCTCCATTCTGCACTCAGAAAATGGCACTTGGGGGACT GGGCGCAGTTGGTCTTTAACCACTTTTCAATGTCTAAAAACATTTGTTTGTGGTCTATAAGATGAAACATCATTTCAATCGTAAAATTTC >In-frame_ACTB_ENST00000331789_chr7_5569166_-_COL17A1_ENST00000353479_chr10_105801102_-_3153nt GAGTGAGCGGCGCGGGGCCAATCAGCGTGCGCCGTTCCGAAAGTTGCCTTTTATGGCTCGAGCGGCCGCGGCGGCGCCCTATAAAACCCA GCGGCGCGACGCGCCACCACCGCCGAGACCGCGTCCGCCCCGCGAGCACAGAGCCTCGCCTTTGCCGATCCGCCGCCCGTCCACACCCGC CGCCAGCTCACCATGGATGATGATATCGCCGCGCTCGTCGTCGACAACGGCTCCGGCATGTGCAAGGCCGGCTTCGCGGGCGACGATGCC CCCCGGGCCGTCTTCCCCTCCATCGTGGGGCGCCCCAGGCACCAGGGCCTTCCATTCCAGGCCCACCAGGACCCCGAGGCCCACCAGGGG AGGGTTTGCCAGGCCCACCAGGCCCACCAGGATCGTTCCTGTCCAACTCAGAAACCTTCCTCTCCGGCCCCCCAGGCCCACCTGGCCCCC CAGGTCCCAAGGGAGACCAAGGTCCCCCAGGCCCCAGAGGACACCAAGGCGAGCAAGGCCTCCCAGGTTTCTCAACCTCAGGGTCCAGTT CTTTCGGACTCAACCTTCAGGGACCACCAGGCCCACCTGGCCCCCAGGGACCCAAAGGTGACAAAGGTGATCCAGGTGTTCCAGGGGCTC TTGGCATTCCTAGTGGTCCTTCTGAAGGGGGATCATCAAGTACCATGTACGTGTCAGGCCCGCCAGGGCCCCCTGGGCCCCCTGGGCCTC CGGGCTCTATCAGCAGCTCTGGCCAGGAGATTCAGCAGTACATCTCTGAGTACATGCAGAGTGACAGTATTAGATCTTACCTATCCGGAG TTCAGGGTCCCCCAGGCCCACCTGGTCCCCCAGGACCTGTCACCACCATCACAGGCGAGACTTTCGACTACTCAGAGCTGGCAAGCCACG TTGTGAGCTACTTACGGACTTCGGGGTACGGTGTCAGCTTGTTCTCGTCCTCCATCTCTTCTGAAGACATTCTGGCTGTGCTGCAGCGGG ATGACGTGCGTCAGTACCTACGTCAGTACTTGATGGGCCCTCGGGGTCCGCCAGGGCCACCAGGAGCCAGTGGAGATGGGTCCCTCCTGT CTTTGGACTATGCAGAGCTGAGTAGTCGCATTCTCAGCTACATGTCGAGTTCTGGGATCAGCATTGGGCTTCCTGGTCCCCCGGGGCCCC CTGGCTTGCCGGGAACCTCCTATGAGGAGCTCCTCTCCTTGCTGCGAGGGTCTGAATTCAGAGGCATCGTTGGACCCCCAGGTCCCCCGG GTCCACCAGGGATCCCAGGCAATGTGTGGTCCAGCATCAGCGTGGAGGACCTCTCGTCTTACTTACATACTGCCGGCTTGTCATTCATCC CAGGCCCTCCAGGACCTCCTGGTCCCCCAGGGCCTCGAGGGCCCCCGGGTGTCTCAGGAGCCCTGGCAACCTATGCAGCTGAAAACAGCG ACAGCTTCCGGAGCGAGCTGATCAGCTACCTCACAAGTCCTGATGTGCGCAGCTTCATTGTTGGCCCCCCAGGCCCTCCTGGGCCGCAGG GACCCCCTGGGGACAGCCGCCTCCTGTCCACGGATGCCTCCCACAGTCGGGGTAGCAGCTCCTCCTCACACAGCTCATCTGTCAGGCGGG GCAGCTCCTACAGCTCTTCCATGAGCACAGGAGGAGGTGGTGCAGGCTCCCTGGGTGCAGGCGGTGCCTTTGGTGAAGCTGCAGGAGACA GGGGTCCCTATGGCACTGACATCGGCCCAGGCGGAGGCTATGGGGCAGCAGCAGAAGGCGGCATGTATGCTGGCAATGGCGGACTATTGG GAGCTGACTTTGCTGGAGATCTGGATTACAATGAGCTGGCTGTGAGGGTGTCAGAGAGCATGCAGCGTCAGGGCCTACTGCAAGGGATGG CCTACACTGTCCAGGGCCCACCAGGCCAGCCTGGGCCACAGGGGCCACCCGGCATCAGCAAGGTCTTCTCTGCCTACAGCAACGTGACTG CGGACCTCATGGACTTCTTCCAAACTTATGGAGCCATTCAAGGACCCCCTGGGCAAAAAGGAGAGATGGGCACTCCAGGACCCAAAGGTG ACAGGGGCCCTGCTGGGCCACCAGGTCATCCTGGGCCACCTGGCCCTCGAGGACACAAGGGAGAAAAAGGAGACAAAGGTGACCAAGTCT ATGCTGGGCGGAGAAGGAGAAGAAGTATTGCTGTCAAGCCGTGAGCTAGCCATGGCAGGACAGCTCCTGGACCAGGTCTCATAATGCATG TGGCACTTAGGTCCAAGGTCTCCAGAGGGTGAAAGCTGGAGTCTGTCAATGTCCTACTGAGACAGCACAGCCAACCTAGCTAGCAACATT TGTTTTAGTCTGAACAATATATACTTATAGAATTCAGTCAAAGATACACAATCTGAAACAGCTTCATGGGGTGGACTCTAACAGTAGTTG CAATGTTTTAGAATGAGACTTACTTCTCTGCTATCTAGATCTGAACTCCTTGGCTTCTTTACTTAGTTCAAGCCCCAGCCTAGGAAAGCC AGTTACATAAAAGTTGGCTCAGGAGTCTTAGAGCTTTACCTAAATATGAGCCCAGAAAACGGAGGATGGGGGTGGGGCGCCTTCCTGGAG GTGACACTTGATGGGGGTGTGTTCTGGTTACTGTTCTAAGGCTGTGCCATCAGCTCCTTCCTCCCCTGTTCATTCTGCATTCTCTAGTCA GTTGGCTAAGAAGTGACTCTTGCAACTAAAAAAATTAAGAAATTCACTTCCCCTCTAGGAGGTGATGATAGGGTTTCTAATGGTTATATG TATATCACATTCCCATTTGCTTAGAAAGTCTGATTGTAGCTATGATTGTCCGTAGGCCCATACTAGAGTTCATGGATATGTTATACTGAA CCAGGCCAGAGCAAACAGAAAAAGAAGGTTGAGGGCAATGGACAAGGAAGGAATAAAGGGAGAAGAGGGAAAACAGAAAACCTGATGCTG GGGACACAGCATCAGCTCAAGACGTCACCCTCCATTCTGCACTCAGAAAATGGCACTTGGGGGACTGGGCGCAGTTGGTCTTTAACCACT TTTCAATGTCTAAAAACATTTGTTTGTGGTCTATAAGATGAAACATCATTTCAATCGTAAAATTTCCCATTAAAGAAGTTTTTTTTTCTA |
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FusionGenePPI for ACTB_COL17A1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ACTB | CFL1, CFL2, ACTB, DSTN, ACTG1, NCALD, RAB8B, MYC, SMARCA4, SMARCE1, SMARCC2, NCF1, RAC1, RAC2, PFN1, PCYT1B, CCT5, CCT2, SSH1, SSH2, SPTBN2, RUVBL2, MEPCE, RUVBL1, PSTPIP1, INO80, BCL7C, MGMT, CENPA, CARM1, EMD, MORF4L1, MORF4L2, MRGBP, ESR1, ACTR3, ACTR2, DMAP1, KAT5, CBL, UCHL5, SMN1, AGO4, SMAD3, TJP1, YWHAQ, PSMA3, BCL2L1, H2AFX, AIMP2, TK1, CDKN1A, FABP4, RCC1, TTR, ANXA7, HMMR, CTGF, POLR2A, TAF11, PCK1, VHL, PROM1, ATF3, HNRNPU, ELAVL1, ARRB2, ANGPTL4, DHX9, ERG, FBXO25, TINF2, ACD, POT1, PPP1CC, PPP1CA, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, CAND1, NEDD8, OSTF1, SHBG, MYOC, MKL1, LRRK2, SLC6A2, SNCA, UBASH3B, GRB2, PIK3R2, SHC1, CRK, EPS15, AP2M1, CYBB, IQGAP1, NSMAF, AKT1, ABLIM1, FPR1, A2M, MYH11, CORO1C, FHOD1, MAGOH, EIF4A3, HNF1A, SMURF1, VCP, TRAF3IP1, ERBB2, POLR1B, ESR2, FN1, VCAM1, HCK, DAB2, IQCB1, OTUB1, SMAD9, UBL4A, ITGA4, SVIL, PHB, BBS4, MAP1A, MAP2, NOS3, SLC12A3, DTNA, PAN2, PLG, ICAM1, CD81, ICAM3, MAPK7, AR, MYH9, ACE, RAD52, ENC1, CAV1, EP300, CSNK2B, KHDRBS1, PROSER2, RPL10A, COTL1, HNRNPD, PARK2, CDKN2A, RPA1, RPA2, RPA3, ASB9, ASB12, ZBTB1, HSPA5, ERRFI1, LGR4, CORO7, IVNS1ABP, STAU1, AMOT, HAUS1, CEP250, LGALS3BP, NEDD1, TP53, TUBG1, TUBGCP2, TUBGCP3, FUS, PA2G4, HDAC6, EHHADH, CAP2, WDYHV1, ALK, KAT2B, MDM2, ADA, MAGEA10, TPST1, LMX1B, USP46, DUSP19, HOXB5, HOMER1, PRSS23, HSD17B3, PNMA1, SLC30A6, HNRNPA1, SAMHD1, UNK, CORO1B, CAD, EEF1A1, EEF1A2, YARS, SCARNA22, HSPB2, TCP1, SRPK2, FLNA, PPP1CB, RAB2A, SYNPO, LIMA1, MYO18A, TRIM15, UBE3A, SKI, SNW1, CDC5L, ERBB3, EGFR, EPC1, MBTD1, PTPN1, GC, PHACTR2, PFN2, THRB, TMOD3, REG3A, DBN1, NEXN, TMCC2, COBL, CAP1, TWF2, RNASE3, SFXN5, NPB, SLC25A11, RPL15, PLEKHG6, PPIAL4G, CDK10, SCGB1A1, POLH, RIC3, NUS1, ACP1, IL1RL2, DUSP10, NXF5, THAP4, ZNF695, HTR1E, LSP1, RPS27, MEIS2, FBXL5, DEFA6, CLEC2D, UQCRB, TPGS2, CTNNB1, MTNR1A, CYLD, CCND2, FAM107A, HEY1, TES | COL17A1 | DST, ACTN4, ACTN1, ITGB4, CTNND1, KRT18, PPL, EGFR, CDH1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ACTB_COL17A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ACTB_COL17A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACTB | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | ACTB | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | ACTB | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
| Hgene | ACTB | C0013393 | Dysostoses | 1 | CTD_human |
| Hgene | ACTB | C0013421 | Dystonia | 1 | CTD_human |
| Hgene | ACTB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human;HPO |
| Hgene | ACTB | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | ACTB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | ACTB | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | ACTB | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | ACTB | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | ACTB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | ACTB | C0242184 | Hypoxia | 1 | CTD_human |
| Hgene | ACTB | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | ACTB | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
| Hgene | ACTB | C1846331 | Juvenile-onset dystonia | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ACTB | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 1 | ORPHANET;UNIPROT |
| Tgene | COL17A1 | C0268374 | Adult junctional epidermolysis bullosa (disorder) | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | COL17A1 | C1852551 | Epithelial Recurrent Erosion Dystrophy | 1 | ORPHANET;UNIPROT |
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