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Fusion gene ID: 32667 |
FusionGeneSummary for SASH1_PLN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SASH1_PLN | Fusion gene ID: 32667 | Hgene | Tgene | Gene symbol | SASH1 | PLN | Gene ID | 23328 | 5350 |
| Gene name | SAM and SH3 domain containing 1 | phospholamban | |
| Synonyms | SH3D6A|dJ323M4.1 | CMD1P|CMH18|PLB | |
| Cytomap | 6q24.3-q25.1 | 6q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein | cardiac phospholamban | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | O94885 | P26678 | |
| Ensembl transtripts involved in fusion gene | ENST00000367469, ENST00000367467, ENST00000470750, | ENST00000357525, | |
| Fusion gene scores | * DoF score | 9 X 6 X 6=324 | 3 X 1 X 3=9 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/324*10)=-2.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SASH1 [Title/Abstract] AND PLN [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 | SASH1 | GO:0000209 | protein polyubiquitination | 23776175 |
| Hgene | SASH1 | GO:0010595 | positive regulation of endothelial cell migration | 23776175 |
| Hgene | SASH1 | GO:1900044 | regulation of protein K63-linked ubiquitination | 23776175 |
| Hgene | SASH1 | GO:1902498 | regulation of protein autoubiquitination | 23776175 |
| Tgene | PLN | GO:0032780 | negative regulation of ATPase activity | 19708671 |
| Tgene | PLN | GO:0051924 | regulation of calcium ion transport | 22427649 |
| Tgene | PLN | GO:0051926 | negative regulation of calcium ion transport | 19708671 |
| Tgene | PLN | GO:1901020 | negative regulation of calcium ion transmembrane transporter activity | 19708671 |
| Tgene | PLN | GO:1901877 | negative regulation of calcium ion binding | 19708671 |
| Tgene | PLN | GO:1901894 | regulation of calcium-transporting ATPase activity | 22427649 |
| Tgene | PLN | GO:1901895 | negative regulation of calcium-transporting ATPase activity | 19708671 |
| 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 |
| TCGA | RV | UCEC | TCGA-AJ-A3IA-01A | SASH1 | chr6 | 148664359 | + | PLN | chr6 | 118879988 | + |
| * 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 |
| intron-5UTR | ENST00000367469 | ENST00000357525 | SASH1 | chr6 | 148664359 | + | PLN | chr6 | 118879988 | + |
| 5CDS-5UTR | ENST00000367467 | ENST00000357525 | SASH1 | chr6 | 148664359 | + | PLN | chr6 | 118879988 | + |
| intron-5UTR | ENST00000470750 | ENST00000357525 | SASH1 | chr6 | 148664359 | + | PLN | chr6 | 118879988 | + |
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FusionProtFeatures for SASH1_PLN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SASH1 | PLN |
| May have a role in a signaling pathway. Could act as atumor suppressor. | Reversibly inhibits the activity of ATP2A2 in cardiacsarcoplasmic reticulum by decreasing the apparent affinity of theATPase for Ca(2+). Modulates the contractility of the heart musclein response to physiological stimuli via its effects on ATP2A2.Modulates calcium re-uptake during muscle relaxation and plays animportant role in calcium homeostasis in the heart muscle. Thedegree of ATP2A2 inhibition depends on the oligomeric state ofPLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.{ECO:0000269|PubMed:22427649, ECO:0000269|PubMed:22707725}. |
| 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 SASH1_PLN |
| 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 SASH1_PLN |
| 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 |
| SASH1 | SFN, SUV39H2, KHDRBS1, SKIL, IRAK1, IRAK4, MYD88, MAP3K7, IKBKB, CHUK, IKBKG, ESR1 | PLN | SLN, ATP2A1, ATP2A2, PPP1R3A, DVL3, LDLRAD1, TMEM79, EDA, DMPK |
| - 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 SASH1_PLN |
| 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 SASH1_PLN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PLN | C0027051 | Myocardial Infarction | 2 | CTD_human |
| Tgene | PLN | C1835928 | CARDIOMYOPATHY, DILATED, 1P | 2 | CTD_human;UNIPROT |
| Tgene | PLN | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
| Tgene | PLN | C0206146 | Myocardial Stunning | 1 | CTD_human |
| Tgene | PLN | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
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