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Fusion gene ID: 18319 |
FusionGeneSummary for KCNN3_PDLIM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCNN3_PDLIM1 | Fusion gene ID: 18319 | Hgene | Tgene | Gene symbol | KCNN3 | PDLIM1 | Gene ID | 3782 | 9124 |
| Gene name | potassium calcium-activated channel subfamily N member 3 | PDZ and LIM domain 1 | |
| Synonyms | KCa2.3|SK3|SKCA3|hSK3 | CLIM1|CLP-36|CLP36|HEL-S-112|hCLIM1 | |
| Cytomap | 1q21.3 | 10q23.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | small conductance calcium-activated potassium channel protein 3SKCa 3potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 3potassium intermediate/small conductance calcium-activated channel, subfamily N, member | PDZ and LIM domain protein 1LIM domain protein CLP-36carboxyl terminal LIM domain protein 1elfinepididymis secretory protein Li 112 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9UGI6 | O00151 | |
| Ensembl transtripts involved in fusion gene | ENST00000271915, ENST00000361147, ENST00000358505, ENST00000515643, | ENST00000329399, ENST00000477757, | |
| Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 5 X 4 X 4=80 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KCNN3 [Title/Abstract] AND PDLIM1 [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 | CD386038 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| * 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-3CDS | ENST00000271915 | ENST00000329399 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-5UTR | ENST00000271915 | ENST00000477757 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-3CDS | ENST00000361147 | ENST00000329399 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-5UTR | ENST00000361147 | ENST00000477757 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-3CDS | ENST00000358505 | ENST00000329399 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-5UTR | ENST00000358505 | ENST00000477757 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-3CDS | ENST00000515643 | ENST00000329399 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
| intron-5UTR | ENST00000515643 | ENST00000477757 | KCNN3 | chr1 | 154837852 | + | PDLIM1 | chr10 | 97028599 | - |
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FusionProtFeatures for KCNN3_PDLIM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCNN3 | PDLIM1 |
| Forms a voltage-independent potassium channel activatedby intracellular calcium. Activation is followed by membranehyperpolarization. Thought to regulate neuronal excitability bycontributing to the slow component of synapticafterhyperpolarization. The channel is blocked by apamin. | Cytoskeletal protein that may act as an adapter thatbrings other proteins (like kinases) to the cytoskeleton(PubMed:10861853). Involved in assembly, disassembly anddirectioning of stress fibers in fibroblasts. Required for thelocalization of ACTN1 and PALLD to stress fibers. Required forcell migration and in maintaining cell polarity of fibroblasts (Bysimilarity). {ECO:0000250|UniProtKB:P52944,ECO:0000269|PubMed:10861853}. |
| 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 KCNN3_PDLIM1 |
| 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 KCNN3_PDLIM1 |
| 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 KCNN3_PDLIM1 |
| 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 |
| Hgene | KCNN3 | Q9UGI6 | DB01110 | Miconazole | Small conductance calcium-activated potassium channel protein 3 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for KCNN3_PDLIM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KCNN3 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | KCNN3 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | KCNN3 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
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