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Fusion gene ID: 16946 |
FusionGeneSummary for HTRA2_DDX19B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HTRA2_DDX19B | Fusion gene ID: 16946 | Hgene | Tgene | Gene symbol | HTRA2 | DDX19B | Gene ID | 27429 | 11269 |
| Gene name | HtrA serine peptidase 2 | DEAD-box helicase 19B | |
| Synonyms | MGCA8|OMI|PARK13|PRSS25 | DBP5|DDX19|RNAh | |
| Cytomap | 2p13.1 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine protease HTRA2, mitochondrialHtrA-like serine proteaseOmi stress-regulated endoproteasehigh temperature requirement protein A2protease, serine, 25serine protease 25serine proteinase OMI | ATP-dependent RNA helicase DDX19BATP-dependent RNA helicase DDX19DEAD (Asp-Glu-Ala-As) box polypeptide 19BDEAD (Asp-Glu-Ala-Asp) box polypeptide 19BDEAD box protein 19BDEAD-box RNA helicase DEAD5DEAD-box protein 5DEAD/H (Asp-Glu-Ala-Asp/His) box po | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O43464 | Q9UMR2 | |
| Ensembl transtripts involved in fusion gene | ENST00000258080, ENST00000467961, ENST00000352222, | ENST00000563392, ENST00000570055, ENST00000563206, ENST00000451014, ENST00000568625, ENST00000288071, ENST00000393657, ENST00000355992, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 4 X 6=120 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HTRA2 [Title/Abstract] AND DDX19B [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 | HTRA2 | GO:0006508 | proteolysis | 25118933 |
| Hgene | HTRA2 | GO:0010942 | positive regulation of cell death | 11583623 |
| Hgene | HTRA2 | GO:0034605 | cellular response to heat | 10971580 |
| Hgene | HTRA2 | GO:0035458 | cellular response to interferon-beta | 17297443 |
| Hgene | HTRA2 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11583623|11604410|17297443 |
| Hgene | HTRA2 | GO:0044257 | cellular protein catabolic process | 17297443 |
| Hgene | HTRA2 | GO:0071300 | cellular response to retinoic acid | 17297443 |
| 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 | AW044242 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| * 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 | ENST00000258080 | ENST00000563392 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000570055 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000563206 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000451014 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000568625 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000288071 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000393657 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000258080 | ENST00000355992 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000563392 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000570055 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000563206 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000451014 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000568625 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000288071 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000393657 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| intron-intron | ENST00000467961 | ENST00000355992 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000563392 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000570055 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000563206 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000451014 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000568625 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000288071 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000393657 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
| 3UTR-intron | ENST00000352222 | ENST00000355992 | HTRA2 | chr2 | 74760410 | - | DDX19B | chr16 | 70406555 | - |
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FusionProtFeatures for HTRA2_DDX19B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HTRA2 | DDX19B |
| Serine protease that shows proteolytic activity againsta non-specific substrate beta-casein. Promotes or induces celldeath either by direct binding to and inhibition of BIRC proteins(also called inhibitor of apoptosis proteins, IAPs), leading to anincrease in caspase activity, or by a BIRC inhibition-independent,caspase-independent and serine protease activity-dependentmechanism. Cleaves THAP5 and promotes its degradation duringapoptosis. Isoform 2 seems to be proteolytically inactive.{ECO:0000269|PubMed:15200957, ECO:0000269|PubMed:19502560}. | ATP-dependent RNA helicase involved in mRNA export fromthe nucleus. Rather than unwinding RNA duplexes, DDX19B functionsas a remodeler of ribonucleoprotein particles, whereby proteinsbound to nuclear mRNA are dissociated and replaced by cytoplasmicmRNA binding proteins. |
| 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 HTRA2_DDX19B |
| 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 HTRA2_DDX19B |
| 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 HTRA2_DDX19B |
| 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 HTRA2_DDX19B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HTRA2 | C0007787 | Transient Ischemic Attack | 1 | CTD_human |
| Hgene | HTRA2 | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| Hgene | HTRA2 | C1853202 | PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | 1 | CTD_human;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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