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Fusion gene ID: 27344 |
FusionGeneSummary for PITX2_PPP1R15A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PITX2_PPP1R15A | Fusion gene ID: 27344 | Hgene | Tgene | Gene symbol | PITX2 | PPP1R15A | Gene ID | 5308 | 23645 |
| Gene name | paired like homeodomain 2 | protein phosphatase 1 regulatory subunit 15A | |
| Synonyms | ARP1|ASGD4|Brx1|IDG2|IGDS|IGDS2|IHG2|IRID2|Otlx2|PTX2|RGS|RIEG|RIEG1|RS | GADD34 | |
| Cytomap | 4q25 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pituitary homeobox 2ALL1-responsive protein ARP1all1-responsive gene 1homeobox protein PITX2paired-like homeodomain transcription factor 2rieg bicoid-related homeobox transcription factor 1solurshin | protein phosphatase 1 regulatory subunit 15Agrowth arrest and DNA damage-inducible protein GADD34growth arrest and DNA-damage-inducible 34myeloid differentiation primary response protein MyD116 homologprotein phosphatase 1, regulatory (inhibitor) subu | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q99697 | O75807 | |
| Ensembl transtripts involved in fusion gene | ENST00000306732, ENST00000394598, ENST00000355080, ENST00000354925, ENST00000394595, ENST00000557119, ENST00000556049, | ENST00000200453, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 1=9 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PITX2 [Title/Abstract] AND PPP1R15A [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 | PITX2 | GO:0006355 | regulation of transcription, DNA-templated | 15385555 |
| Hgene | PITX2 | GO:0006357 | regulation of transcription by RNA polymerase II | 23975681 |
| Hgene | PITX2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9685346|19251162 |
| Tgene | PPP1R15A | GO:0032515 | negative regulation of phosphoprotein phosphatase activity | 11564868 |
| Tgene | PPP1R15A | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 11564868 |
| Tgene | PPP1R15A | GO:0034976 | response to endoplasmic reticulum stress | 12556489 |
| Tgene | PPP1R15A | GO:0035308 | negative regulation of protein dephosphorylation | 11564868 |
| Tgene | PPP1R15A | GO:0036496 | regulation of translational initiation by eIF2 alpha dephosphorylation | 12556489 |
| Tgene | PPP1R15A | GO:1902310 | positive regulation of peptidyl-serine dephosphorylation | 11564868|12556489|21518769 |
| Tgene | PPP1R15A | GO:1903917 | positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation | 21518769 |
| 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 |
| ChiTaRS3.1 | BC007987 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| * 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 | ENST00000306732 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| intron-3CDS | ENST00000394598 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| intron-3CDS | ENST00000355080 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| intron-3CDS | ENST00000354925 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| intron-3CDS | ENST00000394595 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| Frame-shift | ENST00000557119 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
| intron-3CDS | ENST00000556049 | ENST00000200453 | PITX2 | chr4 | 111541433 | - | PPP1R15A | chr19 | 49377702 | + |
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FusionProtFeatures for PITX2_PPP1R15A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PITX2 | PPP1R15A |
| Recruits the serine/threonine-protein phosphatase PP1 todephosphorylate the translation initiation factor eIF-2A/EIF2S1,thereby reversing the shut-off of protein synthesis initiated bystress-inducible kinases and facilitating recovery of cells fromstress. Down-regulates the TGF-beta signaling pathway by promotingdephosphorylation of TGFB1 by PP1. May promote apoptosis byinducing TP53 phosphorylation on 'Ser-15'.{ECO:0000269|PubMed:11564868, ECO:0000269|PubMed:12556489,ECO:0000269|PubMed:14635196, ECO:0000269|PubMed:14718519,ECO:0000269|PubMed:8139541}. |
| 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 PITX2_PPP1R15A |
| 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 PITX2_PPP1R15A |
| 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 |
| - 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 PITX2_PPP1R15A |
| 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 PITX2_PPP1R15A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PITX2 | C3714873 | Axenfeld-Rieger Syndrome, Type 1 | 10 | CTD_human;UNIPROT |
| Hgene | PITX2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | PITX2 | C1842031 | IRIDOGONIODYSGENESIS, TYPE 2 | 2 | CTD_human;UNIPROT |
| Hgene | PITX2 | C1867155 | RING DERMOID OF CORNEA | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | PITX2 | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Hgene | PITX2 | C0040427 | Tooth Abnormalities | 1 | CTD_human;HPO |
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