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Fusion gene ID: 26024 |
FusionGeneSummary for PARP14_HPS5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PARP14_HPS5 | Fusion gene ID: 26024 | Hgene | Tgene | Gene symbol | PARP14 | HPS5 | Gene ID | 54625 | 11234 |
| Gene name | poly(ADP-ribose) polymerase family member 14 | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 | |
| Synonyms | ARTD8|BAL2|PARP-14|pART8 | AIBP63|BLOC2S2 | |
| Cytomap | 3q21.1 | 11p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | poly [ADP-ribose] polymerase 14ADP-ribosyltransferase diphtheria toxin-like 8B-aggressive lymphoma 2b aggressive lymphoma protein 2collaborator of STAT6 | Hermansky-Pudlak syndrome 5 proteinalpha integrin binding protein 63ruby-eye protein 2 homolog | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q460N5 | Q9UPZ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000474629, ENST00000475640, | ENST00000396253, ENST00000349215, ENST00000438420, ENST00000537258, ENST00000352460, ENST00000531848, | |
| Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PARP14 [Title/Abstract] AND HPS5 [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 | PARP14 | GO:0006471 | protein ADP-ribosylation | 27796300 |
| 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 | CB047385 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| * 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 |
| 3UTR-intron | ENST00000474629 | ENST00000396253 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| 3UTR-intron | ENST00000474629 | ENST00000349215 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| 3UTR-intron | ENST00000474629 | ENST00000438420 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| 3UTR-intron | ENST00000474629 | ENST00000537258 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| 3UTR-intron | ENST00000474629 | ENST00000352460 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| 3UTR-intron | ENST00000474629 | ENST00000531848 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000396253 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000349215 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000438420 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000537258 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000352460 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
| intron-intron | ENST00000475640 | ENST00000531848 | PARP14 | chr3 | 122448315 | + | HPS5 | chr11 | 18319596 | + |
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FusionProtFeatures for PARP14_HPS5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PARP14 | HPS5 |
| ADP-ribosyltransferase (PubMed:16061477,PubMed:27796300). By mono-ADP-ribosylating STAT1 at 'Glu-657' and'Glu-705' and thus decreasing STAT1 phosphorylation, negativelyregulates pro-inflammatory cytokines production in macrophages inresponse to IFNG stimulation (PubMed:27796300). Mono-ADP-ribosylates STAT6 (By similarity). Enhances STAT6-dependenttranscription (By similarity). In macrophages, positivelyregulates MRC1 expression in response to IL4 stimulation bypromoting STAT6 phosphorylation (PubMed:27796300). Mono-ADP-ribosylates PARP9 (PubMed:27796300).{ECO:0000250|UniProtKB:Q2EMV9, ECO:0000269|PubMed:16061477,ECO:0000269|PubMed:27796300}. | May regulate the synthesis and function of lysosomes andof highly specialized organelles, such as melanosomes and plateletdense granules. Regulates intracellular vesicular trafficking infibroblasts. May be involved in the regulation of generalfunctions of integrins. {ECO:0000269|PubMed:15296495,ECO:0000269|PubMed:17301833}. |
| 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 PARP14_HPS5 |
| 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 PARP14_HPS5 |
| 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 PARP14_HPS5 |
| 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 PARP14_HPS5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HPS5 | C3888004 | HERMANSKY-PUDLAK SYNDROME 5 | 1 | UNIPROT |
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