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Fusion gene ID: 25731 |
FusionGeneSummary for PACS1_FAM32A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PACS1_FAM32A | Fusion gene ID: 25731 | Hgene | Tgene | Gene symbol | PACS1 | FAM32A | Gene ID | 55690 | 26017 |
| Gene name | phosphofurin acidic cluster sorting protein 1 | family with sequence similarity 32 member A | |
| Synonyms | MRD17|SHMS | OTAG-12|OTAG12 | |
| Cytomap | 11q13.1-q13.2 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phosphofurin acidic cluster sorting protein 1PACS-1cytosolic sorting protein PACS-1 | protein FAM32Aovarian tumor associated gene-12 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q6VY07 | Q9Y421 | |
| Ensembl transtripts involved in fusion gene | ENST00000320580, ENST00000529757, ENST00000524815, | ENST00000589852, ENST00000263384, ENST00000588367, | |
| Fusion gene scores | * DoF score | 12 X 5 X 8=480 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/480*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PACS1 [Title/Abstract] AND FAM32A [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 |
| 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 | RV | STAD | TCGA-BR-8590-01A | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| * 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 |
| Frame-shift | ENST00000320580 | ENST00000589852 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| In-frame | ENST00000320580 | ENST00000263384 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| In-frame | ENST00000320580 | ENST00000588367 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000529757 | ENST00000589852 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000529757 | ENST00000263384 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000529757 | ENST00000588367 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000524815 | ENST00000589852 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000524815 | ENST00000263384 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
| intron-3CDS | ENST00000524815 | ENST00000588367 | PACS1 | chr11 | 65838313 | + | FAM32A | chr19 | 16296435 | + |
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FusionProtFeatures for PACS1_FAM32A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PACS1 | FAM32A |
| Isoform 1, but not isoform 2 or isoform 3, may induce G2arrest and apoptosis. May also increase cell sensitivity toapoptotic stimuli. {ECO:0000269|PubMed:21339736}. |
| 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 PACS1_FAM32A |
| 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_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000263384_chr19_16296435_+_207aa MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGP GPGRTPAPVQMNLYATWEVDRSSSSCVPRKKKKKDKDKAKLLEAMGTSKKNEEEKRRGLDKRTPAQAAFEKMQEKRQMERILKKASKTHK >In-frame_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000588367_chr19_16296435_+_189aa MAERGGAGGGPGGAGGGSGQRGSGVAQSPQQPPPQQQQQQPPQQPTPPKLAQATSSSSSTSAAAASSSSSSTSTSMAVAVASGSAPPGGP GPGRTPAPVQMNLYATWEVDRSSSSCVPRKKKKKDKDKAKLLEAMGTSKKNEEEKRRGLDKRTPAQAAFEKMQEKRDFNRHLDTLTEHYD |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000263384_chr19_16296435_+_621nt ATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAG CAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACC TCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCG GGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGAAG AAGAAAAAGAAGGACAAAGACAAAGCGAAACTCCTGGAAGCAATGGGAACGAGCAAAAAGAACGAGGAGGAGAAGCGGCGCGGCCTGGAC AAGCGGACCCCGGCCCAGGCGGCCTTCGAGAAAATGCAGGAGAAGCGGCAAATGGAAAGGATCCTAAAGAAGGCATCCAAAACCCACAAG >In-frame_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000588367_chr19_16296435_+_567nt ATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGCCAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAG CAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAGCTGGCCCAGGCCACCTCGTCGTCCTCGTCCACC TCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCGGTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCG GGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTGGACCGGAGCTCGTCCAGCTGCGTGCCTAGGAAG AAGAAAAAGAAGGACAAAGACAAAGCGAAACTCCTGGAAGCAATGGGAACGAGCAAAAAGAACGAGGAGGAGAAGCGGCGCGGCCTGGAC AAGCGGACCCCGGCCCAGGCGGCCTTCGAGAAAATGCAGGAGAAGCGGGACTTCAACAGACACCTGGACACACTCACGGAGCATTACGAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000263384_chr19_16296435_+_1745nt CCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGC CAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAG CTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCG GTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTG GACCGGAGCTCGTCCAGCTGCGTGCCTAGGAAGAAGAAAAAGAAGGACAAAGACAAAGCGAAACTCCTGGAAGCAATGGGAACGAGCAAA AAGAACGAGGAGGAGAAGCGGCGCGGCCTGGACAAGCGGACCCCGGCCCAGGCGGCCTTCGAGAAAATGCAGGAGAAGCGGCAAATGGAA AGGATCCTAAAGAAGGCATCCAAAACCCACAAGCAGAGAGTGGAGGACTTCAACAGACACCTGGACACACTCACGGAGCATTACGACATT CCCAAAGTCAGCTGGACGAAGTAGCCGCCTGCCCCCAGTATGGAGCAGCATCGAGGGTTCGCAAAAGGCCACACTGGGGTTGTGTGTGTT TCCTTTGGTATATTCTGGAAACATGGCTACACACACCCTTGCATCTTCTGCTACAGACTGCTTTTCGAAGCTGTGTACCCTCATTCTGGA ACTTGATTAAAGTAAGATCGTCCTTGTACTCAGTTTAGGCTTCTTGGCAACATACAGAAGATACACCCTTTTCGTTTGGATGGAAAGTTT CTAAGTTTATCCAGAGGTAAAGCCCATTGTGTGTCTGTGTCATGTAAAAATGTTTTCACCCGAGTTGCATGTAACGCTCTGAGGCCAGCC AGCTGTCTTCTCCTGGATGAGACAGACTCCAGAGGGTAAGGAGCTAGCGCCATGGTGGCCTGCAGTATGCAGAGCCCCGCAGGACCCAGC GTGGGCGCCCTTCCAAGCTTCCTCTAGCTTTGGGCCTATGCTGTCCCCTGCAGGCCCTAGGGAAGCCACTTGCAACTATGCGGCCTTCAG ACTTCCTCCTCAGCCACCTGGCCACTGAGACAGCATAGCCTGGGTAACGGAACAGCCACCTAAGGCAAGAATGGAACGGACACACCTTGC TCCTTTCTGAGCCCGTTTCCCAAAACCCCCCTTCCAGGTGCTTCTAATGGGTGTTGCCATAGCAGACGCTGCTAATGCATCACAGCATTC TTTGAAATGGAACCAGACACAGCCTGCCTCTCAATCCTCAGCTGGGGGCTCCTAGCAGCCTCTTGTATTTACTCAGAGTTGACACATCAC ACAGATCCTGTTTGGCATTCCTACCTTACGGACGTCTCAGGGGTGACAGGACCAGGGCAGAGCCCCGGTACAAACAGACAAGGCTGCAGT CAAATGGGAGGGTCCAGGTGTCCGTGTTGGAGGGCTGGGATCTTGTAGGGCCTGTGCGTCCTGGCTGAGGATCAAACCACATATGTTATT GGGAGAAACGATTTCTGTTGACGTAGATATTGAAAGAATAATGAAGGCAGAAGAGAAAAACGAAGTGTGGAATTTGGGGTTGTCCTGTGT >In-frame_PACS1_ENST00000320580_chr11_65838313_+_FAM32A_ENST00000588367_chr19_16296435_+_1093nt CCTCGGCCTCCGTAACCCCCGCCTAGCCGGGCCATGGCGGAACGCGGAGGGGCGGGCGGTGGTCCCGGAGGCGCCGGGGGCGGCAGCGGC CAGCGGGGATCCGGGGTCGCCCAGTCCCCTCAGCAGCCGCCGCCGCAGCAGCAGCAGCAGCAGCCGCCGCAGCAGCCGACGCCCCCCAAG CTGGCCCAGGCCACCTCGTCGTCCTCGTCCACCTCGGCGGCGGCTGCCTCCTCCTCGTCCTCGTCTACCTCCACCTCCATGGCCGTGGCG GTGGCCTCGGGCTCCGCGCCTCCCGGTGGCCCGGGGCCAGGCCGCACCCCCGCCCCGGTGCAGATGAACCTGTACGCCACCTGGGAGGTG GACCGGAGCTCGTCCAGCTGCGTGCCTAGGAAGAAGAAAAAGAAGGACAAAGACAAAGCGAAACTCCTGGAAGCAATGGGAACGAGCAAA AAGAACGAGGAGGAGAAGCGGCGCGGCCTGGACAAGCGGACCCCGGCCCAGGCGGCCTTCGAGAAAATGCAGGAGAAGCGGGACTTCAAC AGACACCTGGACACACTCACGGAGCATTACGACATTCCCAAAGTCAGCTGGACGAAGTAGCCGCCTGCCCCCAGTATGGAGCAGCATCGA GGGTTCGCAAAAGGCCACACTGGGGTTGTGTGTGTTTCCTTTGGTATATTCTGGAAACATGGCTACACACACCCTTGCATCTTCTGCTAC AGACTGCTTTTCGAAGCTGTGTACCCTCATTCTGGAACTTGATTAAAGTAAGATCGTCCTTGTACTCAGTTTAGGCTTCTTGGCAACATA CAGAAGATACACCCTTTTCGTTTGGATGGAAAGTTTCTAAGTTTATCCAGAGGTAAAGCCCATTGTGTGTCTGTGTCATGTAAAAATGTT TTCACCCGAGTTGCATGTAACGCTCTGAGGCCAGCCAGCTGTCTTCTCCTGGATGAGACAGACTCCAGAGGGTAAGGAGCTAGCGCCATG GTGGCCTGCAGTATGCAGAGCCCCGCAGGACCCAGCGTGGGCGCCCTTCCAAGCTTCCTCTAGCTTTGGGCCTATGCTGTCCCCTGCAGG |
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FusionGenePPI for PACS1_FAM32A |
| 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 |
| PACS1 | VAMP4, FURIN, FGFR1OP, GGA3, CSNK2A1, SORL1, WDR37, NTRK1, CTDSPL, IQCF1, SNX24, PTPRG, PPP1R7, C17orf70, PPP1CB, PPP1CA | FAM32A | APP, CWC22, CCDC22, FBXW7, CCDC60 |
| - 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 |
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RelatedDrugs for PACS1_FAM32A |
| 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 |
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RelatedDiseases for PACS1_FAM32A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PACS1 | C0028754 | Obesity | 1 | CTD_human |
| Hgene | PACS1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | PACS1 | C3554343 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 | 1 | ORPHANET;UNIPROT |
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