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Fusion gene ID: 26791 |
FusionGeneSummary for PGAP3_PPP1R1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PGAP3_PPP1R1B | Fusion gene ID: 26791 | Hgene | Tgene | Gene symbol | PGAP3 | PPP1R1B | Gene ID | 93210 | 84152 |
| Gene name | post-GPI attachment to proteins 3 | protein phosphatase 1 regulatory inhibitor subunit 1B | |
| Synonyms | AGLA546|CAB2|PERLD1|PP1498|hCOS16 | DARPP-32|DARPP32 | |
| Cytomap | 17q12 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | post-GPI attachment to proteins factor 3COS16 homologgene coamplified with ERBB2 proteinper1-like domain containing 1 | protein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96FM1 | Q9UD71 | |
| Ensembl transtripts involved in fusion gene | ENST00000579146, ENST00000300658, ENST00000378011, ENST00000429199, | ENST00000580825, ENST00000254079, ENST00000579000, ENST00000394265, ENST00000394267, | |
| Fusion gene scores | * DoF score | 13 X 4 X 6=312 | 10 X 5 X 11=550 |
| # samples | 12 | 19 | |
| ** MAII score | log2(12/312*10)=-1.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/550*10)=-1.53343220008107 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PGAP3 [Title/Abstract] AND PPP1R1B [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 | PPP1R1B | GO:0032515 | negative regulation of phosphoprotein phosphatase activity | 10807923 |
| 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 | STAD | TCGA-D7-8573-01A | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| * 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-5UTR | ENST00000579146 | ENST00000580825 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-5UTR | ENST00000579146 | ENST00000254079 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-5UTR | ENST00000579146 | ENST00000579000 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-intron | ENST00000579146 | ENST00000394265 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-intron | ENST00000579146 | ENST00000394267 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000300658 | ENST00000580825 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000300658 | ENST00000254079 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000300658 | ENST00000579000 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-intron | ENST00000300658 | ENST00000394265 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-intron | ENST00000300658 | ENST00000394267 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000378011 | ENST00000580825 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000378011 | ENST00000254079 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-5UTR | ENST00000378011 | ENST00000579000 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-intron | ENST00000378011 | ENST00000394265 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| 5CDS-intron | ENST00000378011 | ENST00000394267 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-5UTR | ENST00000429199 | ENST00000580825 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-5UTR | ENST00000429199 | ENST00000254079 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-5UTR | ENST00000429199 | ENST00000579000 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-intron | ENST00000429199 | ENST00000394265 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
| intron-intron | ENST00000429199 | ENST00000394267 | PGAP3 | chr17 | 37830870 | - | PPP1R1B | chr17 | 37783559 | + |
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FusionProtFeatures for PGAP3_PPP1R1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PGAP3 | PPP1R1B |
| 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}. | Inhibitor of protein-phosphatase 1. |
| 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_PPP1R1B |
| 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_PPP1R1B |
| 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 | PPP1R1B | DLGAP4, CSNK2A1, PPP1CC, PPP1CA, TFCP2, KLHL6, ACTBL2 |
| - 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_PPP1R1B |
| 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_PPP1R1B |
| 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 | PPP1R1B | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | PPP1R1B | C0005586 | Bipolar Disorder | 4 | PSYGENET |
| Tgene | PPP1R1B | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | PPP1R1B | C0007370 | Catalepsy | 1 | CTD_human |
| Tgene | PPP1R1B | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | PPP1R1B | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | PPP1R1B | C0013384 | Dyskinetic syndrome | 1 | CTD_human |
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