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Fusion gene ID: 16981 |
FusionGeneSummary for HYOU1_PSPH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HYOU1_PSPH | Fusion gene ID: 16981 | Hgene | Tgene | Gene symbol | HYOU1 | PSPH | Gene ID | 10525 | 5723 |
| Gene name | hypoxia up-regulated 1 | phosphoserine phosphatase | |
| Synonyms | GRP-170|Grp170|HSP12A|ORP-150|ORP150 | PSP|PSPHD | |
| Cytomap | 11q23.3 | 7p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hypoxia up-regulated protein 1150 kDa oxygen-regulated protein170 kDa glucose-regulated proteinoxygen regulated protein (150kD) | phosphoserine phosphataseL-3-phosphoserine phosphataseO-phosphoserine phosphohydrolasePSPase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y4L1 | P78330 | |
| Ensembl transtripts involved in fusion gene | ENST00000404233, ENST00000529972, ENST00000525859, ENST00000543287, | ENST00000275605, ENST00000395471, ENST00000459834, | |
| Fusion gene scores | * DoF score | 6 X 8 X 3=144 | 12 X 13 X 4=624 |
| # samples | 10 | 14 | |
| ** MAII score | log2(10/144*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/624*10)=-2.15611920191728 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HYOU1 [Title/Abstract] AND PSPH [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 | HYOU1 | GO:0006888 | ER to Golgi vesicle-mediated transport | 10837345 |
| Hgene | HYOU1 | GO:0071456 | cellular response to hypoxia | 10837345 |
| Hgene | HYOU1 | GO:1903298 | negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway | 10037731 |
| Tgene | PSPH | GO:0006563 | L-serine metabolic process | 15291819 |
| 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 | AW606659 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| * 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-intron | ENST00000404233 | ENST00000275605 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000404233 | ENST00000395471 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000404233 | ENST00000459834 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000529972 | ENST00000275605 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000529972 | ENST00000395471 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000529972 | ENST00000459834 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000525859 | ENST00000275605 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000525859 | ENST00000395471 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000525859 | ENST00000459834 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000543287 | ENST00000275605 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000543287 | ENST00000395471 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
| intron-intron | ENST00000543287 | ENST00000459834 | HYOU1 | chr11 | 118922647 | - | PSPH | chr7 | 56131325 | + |
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FusionProtFeatures for HYOU1_PSPH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HYOU1 | PSPH |
| Has a pivotal role in cytoprotective cellular mechanismstriggered by oxygen deprivation. May play a role as a molecularchaperone and participate in protein folding.{ECO:0000269|PubMed:10037731}. | Catalyzes the last step in the biosynthesis of serinefrom carbohydrates. The reaction mechanism proceeds via theformation of a phosphoryl-enzyme intermediates.{ECO:0000269|PubMed:12777757}. |
| 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 HYOU1_PSPH |
| 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 HYOU1_PSPH |
| 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 HYOU1_PSPH |
| 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 |
| Tgene | PSPH | P78330 | DB01593 | Zinc | Phosphoserine phosphatase | small molecule | approved|investigational |
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RelatedDiseases for HYOU1_PSPH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HYOU1 | C1846707 | SPINOCEREBELLAR ATAXIA 17 | 1 | CTD_human |
| Tgene | PSPH | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| Tgene | PSPH | C1291463 | Deficiency of phosphoserine phosphatase | 1 | ORPHANET;UNIPROT |
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