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Fusion gene ID: 29310 |
FusionGeneSummary for PTGDS_HIP1R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PTGDS_HIP1R | Fusion gene ID: 29310 | Hgene | Tgene | Gene symbol | PTGDS | HIP1R | Gene ID | 5730 | 9026 |
| Gene name | prostaglandin D2 synthase | huntingtin interacting protein 1 related | |
| Synonyms | L-PGDS|LPGDS|PDS|PGD2|PGDS|PGDS2 | HIP12|HIP3|ILWEQ | |
| Cytomap | 9q34.3 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | prostaglandin-H2 D-isomerasePGD2 synthasebeta-trace proteincerebrin-28glutathione-independent PGD synthaseglutathione-independent PGD synthetaselipocalin-type prostaglandin D synthaseprostaglandin D synthaseprostaglandin D2 synthase 21kDa (brain) | huntingtin-interacting protein 1-related proteinHIP-12HIP1-related proteinhuntingtin interacting protein 12 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P41222 | O75146 | |
| Ensembl transtripts involved in fusion gene | ENST00000224167, ENST00000371625, ENST00000460340, | ENST00000253083, ENST00000537322, | |
| Fusion gene scores | * DoF score | 11 X 8 X 3=264 | 4 X 4 X 2=32 |
| # samples | 13 | 4 | |
| ** MAII score | log2(13/264*10)=-1.02202630633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PTGDS [Title/Abstract] AND HIP1R [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 | PTGDS | GO:0001516 | prostaglandin biosynthetic process | 20667974 |
| Tgene | HIP1R | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 19255499 |
| Tgene | HIP1R | GO:0032092 | positive regulation of protein binding | 19255499 |
| Tgene | HIP1R | GO:0050821 | protein stabilization | 14732715 |
| 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 | CB153680 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| * 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 | ENST00000224167 | ENST00000253083 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| 5CDS-intron | ENST00000224167 | ENST00000537322 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| Frame-shift | ENST00000371625 | ENST00000253083 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| 5CDS-intron | ENST00000371625 | ENST00000537322 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| intron-3CDS | ENST00000460340 | ENST00000253083 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
| intron-intron | ENST00000460340 | ENST00000537322 | PTGDS | chr9 | 139872044 | + | HIP1R | chr12 | 123343442 | + |
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FusionProtFeatures for PTGDS_HIP1R |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PTGDS | HIP1R |
| Catalyzes the conversion of PGH2 to PGD2, aprostaglandin involved in smooth muscle contraction/relaxation anda potent inhibitor of platelet aggregation. Involved in a varietyof CNS functions, such as sedation, NREM sleep and PGE2-inducedallodynia, and may have an anti-apoptotic role inoligodendrocytes. Binds small non-substrate lipophilic molecules,including biliverdin, bilirubin, retinal, retinoic acid andthyroid hormone, and may act as a scavenger for harmfulhydrophopic molecules and as a secretory retinoid and thyroidhormone transporter. Possibly involved in development andmaintenance of the blood-brain, blood-retina, blood-aqueous humorand blood-testis barrier. It is likely to play important roles inboth maturation and maintenance of the central nervous system andmale reproductive system. {ECO:0000269|PubMed:20667974,ECO:0000269|PubMed:9475419}. | Component of clathrin-coated pits and vesicles, that maylink the endocytic machinery to the actin cytoskeleton. Binds 3-phosphoinositides (via ENTH domain). May act through the ENTHdomain to promote cell survival by stabilizing receptor tyrosinekinases following ligand-induced endocytosis.{ECO:0000269|PubMed:11889126, ECO:0000269|PubMed:14732715}. |
| 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 PTGDS_HIP1R |
| 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 PTGDS_HIP1R |
| 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 PTGDS_HIP1R |
| 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 PTGDS_HIP1R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PTGDS | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | PTGDS | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | HIP1R | C0005586 | Bipolar Disorder | 2 | PSYGENET |
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