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Fusion gene ID: 27358 |
FusionGeneSummary for PKD2_SASH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PKD2_SASH1 | Fusion gene ID: 27358 | Hgene | Tgene | Gene symbol | PKD2 | SASH1 | Gene ID | 25865 | 23328 |
| Gene name | protein kinase D2 | SAM and SH3 domain containing 1 | |
| Synonyms | HSPC187|PKD2|nPKC-D2 | SH3D6A|dJ323M4.1 | |
| Cytomap | 19q13.32 | 6q24.3-q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase D2 | SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13563 | O94885 | |
| Ensembl transtripts involved in fusion gene | ENST00000237596, ENST00000508588, ENST00000511337, ENST00000502363, | ENST00000367469, ENST00000367467, ENST00000470750, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 7 X 6 X 4=168 |
| # samples | 1 | 7 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PKD2 [Title/Abstract] AND SASH1 [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 | PKD2 | GO:0006468 | protein phosphorylation | 22228765 |
| Hgene | PKD2 | GO:0018105 | peptidyl-serine phosphorylation | 18440775 |
| Hgene | PKD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17077180 |
| Hgene | PKD2 | GO:0046777 | protein autophosphorylation | 17077180 |
| Hgene | PKD2 | GO:0050852 | T cell receptor signaling pathway | 17077180 |
| Tgene | SASH1 | GO:0000209 | protein polyubiquitination | 23776175 |
| Tgene | SASH1 | GO:0010595 | positive regulation of endothelial cell migration | 23776175 |
| Tgene | SASH1 | GO:1900044 | regulation of protein K63-linked ubiquitination | 23776175 |
| Tgene | SASH1 | GO:1902498 | regulation of protein autoubiquitination | 23776175 |
| 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 | AI343884 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| * 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-intron | ENST00000237596 | ENST00000367469 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-3UTR | ENST00000237596 | ENST00000367467 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000237596 | ENST00000470750 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000508588 | ENST00000367469 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-3UTR | ENST00000508588 | ENST00000367467 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000508588 | ENST00000470750 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000511337 | ENST00000367469 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-3UTR | ENST00000511337 | ENST00000367467 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000511337 | ENST00000470750 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000502363 | ENST00000367469 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-3UTR | ENST00000502363 | ENST00000367467 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
| intron-intron | ENST00000502363 | ENST00000470750 | PKD2 | chr4 | 88968682 | - | SASH1 | chr6 | 148870939 | - |
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FusionProtFeatures for PKD2_SASH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PKD2 | SASH1 |
| Functions as a cation channel involved in fluid-flowmechanosensation by the primary cilium in renal epithelium(PubMed:18695040). Functions as outward-rectifying K(+) channel,but is also permeable to Ca(2+), and to a much lesser degree alsoto Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085,PubMed:27991905). May contribute to the release of Ca(2+) storesfrom the endoplasmic reticulum (PubMed:11854751, PubMed:20881056).Together with TRPV4, forms mechano- and thermosensitive channelsin cilium (PubMed:18695040). PKD1 and PKD2 may function through acommon signaling pathway that is necessary to maintain the normal,differentiated state of renal tubule cells. Acts as a regulator ofcilium length, together with PKD1. The dynamic control of ciliumlength is essential in the regulation of mechanotransductivesignaling. The cilium length response creates a negative feedbackloop whereby fluid shear-mediated deflection of the primarycilium, which decreases intracellular cAMP, leads to ciliumshortening and thus decreases flow-induced signaling. Alsoinvolved in left-right axis specification via its role in sensingnodal flow; forms a complex with PKD1L1 in cilia to facilitateflow detection in left-right patterning. Detection of asymmetricnodal flow gives rise to a Ca(2+) signal that is required fornormal, asymmetric expression of genes involved in thespecification of body left-right laterality (By similarity).{ECO:0000250|UniProtKB:O35245, ECO:0000269|PubMed:11854751,ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:16551655,ECO:0000269|PubMed:18695040, ECO:0000269|PubMed:20881056,ECO:0000269|PubMed:27991905, ECO:0000305}. | May have a role in a signaling pathway. Could act as atumor suppressor. |
| 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 PKD2_SASH1 |
| 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 PKD2_SASH1 |
| 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 PKD2_SASH1 |
| 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 PKD2_SASH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PKD2 | C2751306 | Polycystic kidney disease, type 2 | 6 | UNIPROT |
| Hgene | PKD2 | C0085413 | Polycystic Kidney, Autosomal Dominant | 4 | CTD_human |
| Hgene | PKD2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | PKD2 | C0035309 | Retinal Diseases | 1 | CTD_human |
| Hgene | PKD2 | C0042373 | Vascular Diseases | 1 | CTD_human |
| Hgene | PKD2 | C0524851 | Neurodegenerative Disorders | 1 | CTD_human |
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