|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 29209 |
FusionGeneSummary for PSMD8_HDLBP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PSMD8_HDLBP | Fusion gene ID: 29209 | Hgene | Tgene | Gene symbol | PSMD8 | HDLBP | Gene ID | 5714 | 3069 |
| Gene name | proteasome 26S subunit, non-ATPase 8 | high density lipoprotein binding protein | |
| Synonyms | HEL-S-91n|HIP6|HYPF|Nin1p|Rpn12|S14|p31 | HBP|PRO2900|VGL | |
| Cytomap | 19q13.2 | 2q37.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 26S proteasome non-ATPase regulatory subunit 826S proteasome regulatory subunit RPN1226S proteasome regulatory subunit S1426S proteasome regulatory subunit p31epididymis secretory sperm binding protein Li 91nproteasome (prosome, macropain) 26S subuni | vigilinHDL-binding protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P48556 | Q00341 | |
| Ensembl transtripts involved in fusion gene | ENST00000215071, ENST00000602911, ENST00000592035, | ENST00000391976, ENST00000310931, ENST00000391975, ENST00000427183, ENST00000476807, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 15 X 14 X 6=1260 |
| # samples | 6 | 16 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1260*10)=-2.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PSMD8 [Title/Abstract] AND HDLBP [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 |
| 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 | DW427896 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| * 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 | ENST00000215071 | ENST00000391976 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000215071 | ENST00000310931 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000215071 | ENST00000391975 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000215071 | ENST00000427183 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5CDS-intron | ENST00000215071 | ENST00000476807 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000602911 | ENST00000391976 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000602911 | ENST00000310931 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000602911 | ENST00000391975 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| Frame-shift | ENST00000602911 | ENST00000427183 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5CDS-intron | ENST00000602911 | ENST00000476807 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5UTR-3CDS | ENST00000592035 | ENST00000391976 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5UTR-3CDS | ENST00000592035 | ENST00000310931 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5UTR-3CDS | ENST00000592035 | ENST00000391975 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5UTR-3CDS | ENST00000592035 | ENST00000427183 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
| 5UTR-intron | ENST00000592035 | ENST00000476807 | PSMD8 | chr19 | 38867047 | + | HDLBP | chr2 | 242196041 | - |
Top |
FusionProtFeatures for PSMD8_HDLBP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PSMD8 | HDLBP |
| Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair.{ECO:0000269|PubMed:1317798}. | Appears to play a role in cell sterol metabolism. It mayfunction to protect cells from over-accumulation of cholesterol. |
| 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 PSMD8_HDLBP |
| 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 PSMD8_HDLBP |
| 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 PSMD8_HDLBP |
| 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 PSMD8_HDLBP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PSMD8 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | HDLBP | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | HDLBP | C2931817 | Chromosome 2q37 deletion syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|