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Fusion gene ID: 28599 |
FusionGeneSummary for PRDM1_HSPB6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRDM1_HSPB6 | Fusion gene ID: 28599 | Hgene | Tgene | Gene symbol | PRDM1 | HSPB6 | Gene ID | 639 | 126393 |
| Gene name | PR/SET domain 1 | heat shock protein family B (small) member 6 | |
| Synonyms | BLIMP1|PRDI-BF1 | HEL55|Hsp20|PPP1R91 | |
| Cytomap | 6q21 | 19q13.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PR domain zinc finger protein 1B-lymphocyte-induced maturation protein 1BLIMP-1PR domain 1PR domain containing 1, with ZNF domainPRDI-binding factor-1beta-interferon gene positive-regulatory domain I binding factor | heat shock protein beta-6epididymis luminal protein 55heat shock 20 kDa-like protein p20heat shock protein family B (small) member B6heat shock protein, alpha-crystallin-related, B6protein phosphatase 1, regulatory subunit 91 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | O75626 | O14558 | |
| Ensembl transtripts involved in fusion gene | ENST00000369091, ENST00000369096, ENST00000369089, | ENST00000592984, ENST00000004982, ENST00000587965, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PRDM1 [Title/Abstract] AND HSPB6 [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 | PRDM1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 1851123 |
| Tgene | HSPB6 | GO:0045766 | positive regulation of angiogenesis | 22427880 |
| Tgene | HSPB6 | GO:0061077 | chaperone-mediated protein folding | 14717697 |
| 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 | BM708366 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| * 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 | ENST00000369091 | ENST00000592984 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| 5CDS-3UTR | ENST00000369091 | ENST00000004982 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| 5CDS-intron | ENST00000369091 | ENST00000587965 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| 5CDS-3UTR | ENST00000369096 | ENST00000592984 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| 5CDS-3UTR | ENST00000369096 | ENST00000004982 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| 5CDS-intron | ENST00000369096 | ENST00000587965 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| intron-3UTR | ENST00000369089 | ENST00000592984 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| intron-3UTR | ENST00000369089 | ENST00000004982 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
| intron-intron | ENST00000369089 | ENST00000587965 | PRDM1 | chr6 | 106536277 | + | HSPB6 | chr19 | 36246118 | - |
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FusionProtFeatures for PRDM1_HSPB6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRDM1 | HSPB6 |
| Transcription factor that mediates a transcriptionalprogram in various innate and adaptive immune tissue-residentlymphocyte T cell types such as tissue-resident memory T (Trm),natural killer (trNK) and natural killer T (NKT) cells andnegatively regulates gene expression of proteins that promote theegress of tissue-resident T-cell populations from non-lymphoidorgans. Plays a role in the development, retention and long-termestablishment of adaptive and innate tissue-resident lymphocyte Tcell types in non-lymphoid organs, such as the skin and gut, butalso in other nonbarrier tissues like liver and kidney, andtherefore may provide immediate immunological protection againstreactivating infections or viral reinfection (By similarity).Binds specifically to the PRDI element in the promoter of thebeta-interferon gene (PubMed:1851123). Drives the maturation of B-lymphocytes into Ig secreting cells (PubMed:12626569). Associateswith the transcriptional repressor ZNF683 to chromatin at genepromoter regions (By similarity). {ECO:0000250|UniProtKB:Q60636,ECO:0000269|PubMed:12626569, ECO:0000269|PubMed:1851123}. | Small heat shock protein which functions as a molecularchaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in variousbiological processes. Plays a role in regulating muscle functionsuch as smooth muscle vasorelaxation and cardiac myocytecontractility. May regulate myocardial angiogenesis implicatingKDR. Overexpression mediates cardioprotection and angiogenesisafter induced damage. Stabilizes monomeric YWHAZ therebysupporting YWHAZ chaperone-like activity.{ECO:0000269|PubMed:14717697, ECO:0000269|PubMed:19845507,ECO:0000269|PubMed:20843828, ECO:0000269|PubMed:22427880,ECO:0000305, ECO:0000305|PubMed:22794279}. |
| 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 PRDM1_HSPB6 |
| 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 PRDM1_HSPB6 |
| 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 PRDM1_HSPB6 |
| 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 PRDM1_HSPB6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRDM1 | C0003873 | Rheumatoid Arthritis | 3 | CTD_human |
| Hgene | PRDM1 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
| Hgene | PRDM1 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Hgene | PRDM1 | C1527336 | Sjogren's Syndrome | 1 | CTD_human |
| Tgene | HSPB6 | C0018799 | Heart Diseases | 1 | CTD_human |
| Tgene | HSPB6 | C0041755 | Adverse reaction to drug | 1 | CTD_human |
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