|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 28762 |
FusionGeneSummary for PRKCSH_PURB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRKCSH_PURB | Fusion gene ID: 28762 | Hgene | Tgene | Gene symbol | PRKCSH | PURB | Gene ID | 5589 | 5814 |
| Gene name | protein kinase C substrate 80K-H | purine rich element binding protein B | |
| Synonyms | AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60 | PURBETA | |
| Cytomap | 19p13.2 | 7p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda protein | transcriptional activator protein Pur-beta | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P14314 | Q96QR8 | |
| Ensembl transtripts involved in fusion gene | ENST00000591462, ENST00000252455, ENST00000412601, ENST00000592741, ENST00000587327, ENST00000589838, ENST00000591510, | ENST00000395699, | |
| Fusion gene scores | * DoF score | 7 X 9 X 3=189 | 2 X 2 X 1=4 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/189*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/4*10)=2.90689059560852 | |
| Context | PubMed: PRKCSH [Title/Abstract] AND PURB [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 | AA282178 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| * 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-3UTR | ENST00000591462 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000252455 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000412601 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000592741 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000587327 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000589838 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
| 3UTR-3UTR | ENST00000591510 | ENST00000395699 | PRKCSH | chr19 | 11561654 | - | PURB | chr7 | 44919088 | + |
Top |
FusionProtFeatures for PRKCSH_PURB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRKCSH | PURB |
| Regulatory subunit of glucosidase II that cleavessequentially the 2 innermost alpha-1,3-linked glucose residuesfrom the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor ofimmature glycoproteins. {ECO:0000269|PubMed:10929008}. | Has capacity to bind repeated elements in single-stranded DNA such as the purine-rich single strand of the PURelement located upstream of the MYC gene. Plays a role in thecontrol of vascular smooth muscle (VSM) alpha-actin genetranscription as repressor in myoblasts and fibroblasts.Participates in transcriptional and translational regulation ofalpha-MHC expression in cardiac myocytes by binding to the purine-rich negative regulatory (PNR) element. Modulates constitutiveliver galectin-3 gene transcription by binding to its promoter.May play a role in the dendritic transport of a subset of mRNAs(By similarity). {ECO:0000250, ECO:0000269|PubMed:1448097}. |
| 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 PRKCSH_PURB |
| 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 PRKCSH_PURB |
| 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 PRKCSH_PURB |
| 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 PRKCSH_PURB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRKCSH | C0158683 | Polycystic liver disease | 2 | CTD_human;HPO;ORPHANET |
| Hgene | PRKCSH | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|