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Fusion gene ID: 26789 |
FusionGeneSummary for PGAP3_MYOCD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PGAP3_MYOCD | Fusion gene ID: 26789 | Hgene | Tgene | Gene symbol | PGAP3 | MYOCD | Gene ID | 93210 | 93649 |
| Gene name | post-GPI attachment to proteins 3 | myocardin | |
| Synonyms | AGLA546|CAB2|PERLD1|PP1498|hCOS16 | MYCD | |
| Cytomap | 17q12 | 17p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | post-GPI attachment to proteins factor 3COS16 homologgene coamplified with ERBB2 proteinper1-like domain containing 1 | myocardin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96FM1 | Q8IZQ8 | |
| Ensembl transtripts involved in fusion gene | ENST00000579146, ENST00000300658, ENST00000378011, ENST00000429199, | ENST00000425538, ENST00000343344, ENST00000395988, | |
| Fusion gene scores | * DoF score | 13 X 4 X 6=312 | 3 X 2 X 2=12 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/312*10)=-1.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PGAP3 [Title/Abstract] AND MYOCD [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 |
| Tgene | MYOCD | GO:0003257 | positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation | 15907818 |
| Tgene | MYOCD | GO:0008285 | negative regulation of cell proliferation | 18451334 |
| Tgene | MYOCD | GO:0045736 | negative regulation of cyclin-dependent protein serine/threonine kinase activity | 18451334 |
| Tgene | MYOCD | GO:0045893 | positive regulation of transcription, DNA-templated | 19797053 |
| Tgene | MYOCD | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14970199|17215356|19578358 |
| Tgene | MYOCD | GO:0045987 | positive regulation of smooth muscle contraction | 17215356 |
| Tgene | MYOCD | GO:0051091 | positive regulation of DNA binding transcription factor activity | 19098903 |
| Tgene | MYOCD | GO:0051152 | positive regulation of smooth muscle cell differentiation | 18451334 |
| Tgene | MYOCD | GO:2000721 | positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation | 15907818 |
| Tgene | MYOCD | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 18451334 |
| Tgene | MYOCD | GO:2001015 | negative regulation of skeletal muscle cell differentiation | 18451334 |
| 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 | BLCA | TCGA-4Z-AA7S-01A | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| * 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 | ENST00000579146 | ENST00000425538 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| Frame-shift | ENST00000579146 | ENST00000343344 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| 5CDS-3UTR | ENST00000579146 | ENST00000395988 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| Frame-shift | ENST00000300658 | ENST00000425538 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| Frame-shift | ENST00000300658 | ENST00000343344 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| 5CDS-3UTR | ENST00000300658 | ENST00000395988 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| intron-3CDS | ENST00000378011 | ENST00000425538 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| intron-3CDS | ENST00000378011 | ENST00000343344 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| intron-3UTR | ENST00000378011 | ENST00000395988 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| Frame-shift | ENST00000429199 | ENST00000425538 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| Frame-shift | ENST00000429199 | ENST00000343344 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
| 5CDS-3UTR | ENST00000429199 | ENST00000395988 | PGAP3 | chr17 | 37840850 | - | MYOCD | chr17 | 12639478 | + |
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FusionProtFeatures for PGAP3_MYOCD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PGAP3 | MYOCD |
| Involved in the lipid remodeling steps of GPI-anchormaturation. Lipid remodeling steps consist in the generation of 2saturated fatty chains at the sn-2 position of GPI-anchorsproteins. Required for phospholipase A2 activity that removes anacyl-chain at the sn-2 position of GPI-anchors during theremodeling of GPI (Probable). {ECO:0000305|PubMed:17021251}. | Smooth muscle cells (SM) and cardiac muscle cells-specific transcriptional factor which uses the canonical single ormultiple CArG boxes DNA sequence. Acts as a cofactor of serumresponse factor (SRF) with the potential to modulate SRF-targetgenes. Plays a crucial role in cardiogenesis and differentiationof the smooth muscle cell lineage (myogenesis) (By similarity).{ECO:0000250, ECO:0000269|PubMed:12640126}. |
| 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 PGAP3_MYOCD |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PGAP3_MYOCD |
| 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 |
| PGAP3 | TBRG4, VKORC1L1 | MYOCD | SRF, MKL1, SMARCA4, SMAD3, SMAD2, KDM3A, MYOD1, PPP2R4, STUB1, HSPA4, HSP90AA1, NCOA3, ARRB2, GOPC |
| - 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 PGAP3_MYOCD |
| 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 PGAP3_MYOCD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PGAP3 | C3810354 | HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 | 1 | UNIPROT |
| Tgene | MYOCD | C0018800 | Cardiomegaly | 1 | CTD_human |
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