|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 16810 |
FusionGeneSummary for HSD17B4_COPS3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSD17B4_COPS3 | Fusion gene ID: 16810 | Hgene | Tgene | Gene symbol | HSD17B4 | COPS3 | Gene ID | 3295 | 8533 |
| Gene name | hydroxysteroid 17-beta dehydrogenase 4 | COP9 signalosome subunit 3 | |
| Synonyms | DBP|MFE-2|MPF-2|PRLTS1|SDR8C1 | CSN3|SGN3 | |
| Cytomap | 5q23.1 | 17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peroxisomal multifunctional enzyme type 217-beta-HSD 417-beta-HSD IV17-beta-hydroxysteroid dehydrogenase 417beta-estradiol dehydrogenase type IV3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydrataseD-3-hydroxyacyl-CoA dehydratase | COP9 signalosome complex subunit 3COP9 complex subunit 3COP9 constitutive photomorphogenic homolog subunit 3JAB1-containing signalosome subunit 3signalosome subunit 3 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P51659 | Q9UNS2 | |
| Ensembl transtripts involved in fusion gene | ENST00000256216, ENST00000515320, ENST00000510025, ENST00000504811, ENST00000414835, ENST00000513628, ENST00000509514, ENST00000522415, | ENST00000539941, ENST00000268717, ENST00000439936, | |
| Fusion gene scores | * DoF score | 2 X 3 X 3=18 | 5 X 4 X 5=100 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HSD17B4 [Title/Abstract] AND COPS3 [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 | HSD17B4 | GO:0006635 | fatty acid beta-oxidation | 10400999 |
| Hgene | HSD17B4 | GO:0008209 | androgen metabolic process | 7487879 |
| Hgene | HSD17B4 | GO:0008210 | estrogen metabolic process | 7487879 |
| Hgene | HSD17B4 | GO:0036111 | very long-chain fatty-acyl-CoA metabolic process | 9482850 |
| Hgene | HSD17B4 | GO:0036112 | medium-chain fatty-acyl-CoA metabolic process | 9089413 |
| Tgene | COPS3 | GO:0000338 | protein deneddylation | 19141280 |
| 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 | BF033554 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| * 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 |
| 5CDS-3UTR | ENST00000256216 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000256216 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000256216 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000515320 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000515320 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000515320 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000510025 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000510025 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000510025 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000504811 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000504811 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000504811 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000414835 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000414835 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000414835 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000513628 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000513628 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000513628 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000509514 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000509514 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 5CDS-3UTR | ENST00000509514 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 3UTR-3UTR | ENST00000522415 | ENST00000539941 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 3UTR-3UTR | ENST00000522415 | ENST00000268717 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
| 3UTR-3UTR | ENST00000522415 | ENST00000439936 | HSD17B4 | chr5 | 118865606 | + | COPS3 | chr17 | 17150317 | - |
Top |
FusionProtFeatures for HSD17B4_COPS3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HSD17B4 | COPS3 |
| Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. {ECO:0000269|PubMed:8902629,ECO:0000269|PubMed:9089413}. | Component of the COP9 signalosome complex (CSN), acomplex involved in various cellular and developmental processes.The CSN complex is an essential regulator of the ubiquitin (Ubl)conjugation pathway by mediating the deneddylation of the cullinsubunits of SCF-type E3 ligase complexes, leading to decrease theUbl ligase activity of SCF-type complexes such as SCF, CSA orDDB2. The complex is also involved in phosphorylation of p53/TP53,c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly viaits association with CK2 and PKD kinases. CSN-dependentphosphorylation of TP53 and JUN promotes and protects degradationby the Ubl system, respectively. {ECO:0000269|PubMed:11285227,ECO:0000269|PubMed:11337588, ECO:0000269|PubMed:12628923,ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:9535219}. |
| 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 |
Top |
FusionGeneSequence for HSD17B4_COPS3 |
| 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). |
Top |
FusionGenePPI for HSD17B4_COPS3 |
| 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 |
Top |
RelatedDrugs for HSD17B4_COPS3 |
| 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 |
Top |
RelatedDiseases for HSD17B4_COPS3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HSD17B4 | C0342870 | Bifunctional peroxisomal enzyme deficiency | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | HSD17B4 | C0282528 | Peroxisomal Disorders | 2 | CTD_human |
| Hgene | HSD17B4 | C0685838 | Gonadal dysgenesis XX type deafness | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | HSD17B4 | C0037769 | West Syndrome | 1 | CTD_human |
| Hgene | HSD17B4 | C0043459 | Zellweger Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|