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Fusion gene ID: 8634 |
FusionGeneSummary for CSNK1D_GSDMA |
Fusion gene summary |
Fusion gene information | Fusion gene name: CSNK1D_GSDMA | Fusion gene ID: 8634 | Hgene | Tgene | Gene symbol | CSNK1D | GSDMA | Gene ID | 1453 | 284110 |
Gene name | casein kinase 1 delta | gasdermin A | |
Synonyms | ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID | FKSG9|GSDM|GSDM1 | |
Cytomap | 17q25.3 | 17q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | casein kinase I isoform deltacasein kinase Itau-protein kinase CSNK1D | gasdermin-Agasdermin-1 | |
Modification date | 20180529 | 20180523 | |
UniProtAcc | P48730 | Q96QA5 | |
Ensembl transtripts involved in fusion gene | ENST00000398519, ENST00000314028, ENST00000392334, ENST00000578904, | ENST00000301659, | |
Fusion gene scores | * DoF score | 10 X 8 X 9=720 | 4 X 2 X 5=40 |
# samples | 13 | 5 | |
** MAII score | log2(13/720*10)=-2.46948528330122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CSNK1D [Title/Abstract] AND GSDMA [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 | CSNK1D | GO:0006468 | protein phosphorylation | 16618118 |
Hgene | CSNK1D | GO:0018105 | peptidyl-serine phosphorylation | 25500533 |
Hgene | CSNK1D | GO:0051225 | spindle assembly | 10826492 |
Tgene | GSDMA | GO:0006915 | apoptotic process | 17471240 |
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 | SARC | TCGA-DX-A1L2-01A | CSNK1D | chr17 | 80210310 | - | GSDMA | chr17 | 38121936 | + |
* 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-5UTR | ENST00000398519 | ENST00000301659 | CSNK1D | chr17 | 80210310 | - | GSDMA | chr17 | 38121936 | + |
5CDS-5UTR | ENST00000314028 | ENST00000301659 | CSNK1D | chr17 | 80210310 | - | GSDMA | chr17 | 38121936 | + |
5CDS-5UTR | ENST00000392334 | ENST00000301659 | CSNK1D | chr17 | 80210310 | - | GSDMA | chr17 | 38121936 | + |
5UTR-5UTR | ENST00000578904 | ENST00000301659 | CSNK1D | chr17 | 80210310 | - | GSDMA | chr17 | 38121936 | + |
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FusionProtFeatures for CSNK1D_GSDMA |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CSNK1D | GSDMA |
Essential serine/threonine-protein kinase that regulatesdiverse cellular growth and survival processes including Wntsignaling, DNA repair and circadian rhythms. It can phosphorylatea large number of proteins. Casein kinases are operationallydefined by their preferential utilization of acidic proteins suchas caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A,SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3,ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Centralcomponent of the circadian clock. In balance with PP1, determinesthe circadian period length through the regulation of the speedand rhythmicity of PER1 and PER2 phosphorylation. Controls PER1and PER2 nuclear transport and degradation. YAP1 phosphorylationpromotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediatedubiquitination and subsequent degradation. DNMT1 phosphorylationreduces its DNA-binding activity. Phosphorylation of ESR1 andAIB1/NCOA3 stimulates their activity and coactivation.Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathwaythat controls neurite outgrowth. EIF6 phosphorylation promotes itsnuclear export. Triggers down-regulation of dopamine receptors inthe forebrain. Activates DCK in vitro by phosphorylation. TOP2Aphosphorylation favors DNA cleavable complex formation. Mayregulate the formation of the mitotic spindle apparatus inextravillous trophoblast. Modulates connexin-43/GJA1 gap junctionassembly by phosphorylation. Probably involved in lymphocytephysiology. Regulates fast synaptic transmission mediated byglutamate. {ECO:0000269|PubMed:10606744,ECO:0000269|PubMed:12270943, ECO:0000269|PubMed:14761950,ECO:0000269|PubMed:16027726, ECO:0000269|PubMed:17562708,ECO:0000269|PubMed:17962809, ECO:0000269|PubMed:19043076,ECO:0000269|PubMed:19339517, ECO:0000269|PubMed:20041275,ECO:0000269|PubMed:20048001, ECO:0000269|PubMed:20407760,ECO:0000269|PubMed:20637175, ECO:0000269|PubMed:20696890,ECO:0000269|PubMed:20699359, ECO:0000269|PubMed:21084295,ECO:0000269|PubMed:21422228, ECO:0000269|PubMed:23636092}. | May promote pyroptosis (Probable). Upon cleavage invitro of genetically engineered GSDMA, the released N-terminalmoiety binds to some types of lipids, such as possiblyphosphatidylinositol (4,5)-bisphosphate. Homooligomerizes withinthe membrane and forms pores of 10 -15 nanometers (nm) of innerdiameter, triggering cell death. Also binds to bacterial andmitochondrial lipids, including cardiolipin, and exhibitsbactericidal activity (PubMed:27281216). The physiologicalrelevance of these observations is unknown (Probable).{ECO:0000269|PubMed:27281216, ECO:0000305,ECO:0000305|PubMed:17471240, ECO:0000305|PubMed:27281216}. |
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 CSNK1D_GSDMA |
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 CSNK1D_GSDMA |
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 |
CSNK1D | DVL3, MCC, PER1, GJA1, AKAP9, DVL1, MDM2, HN1L, KDR, PTPN14, TP53, SMAD2, SMAD3, ATM, PML, DBNDD2, SNCA, MAPT, APP, USP16, BYSL, PPP1R14A, YWHAZ, SMAD4, FHL1, MTSS1, NEDD4, CSNK1A1, CSNK1E, TRIM9, LURAP1, BRCA1, ZDHHC17, PPP6C, PER2, RHOJ, DRICH1, MAF1, CACNG2, TRA2A, KCTD17, TEX264, CACNG4, RP2, MICU2, LDLRAD4, NOB1, PPM1B, PCM1, CEP128, XPO1, KLC1, GEMIN7, FAM83H, PRKAR2B, DAP3, AXIN1, BACE1, NFATC1, NFATC2, SMURF1, RAB1A, ATOH1, CDH1, SNX24, FAM110B, ZNF618, GAPVD1, CRY2, CRY1, PDE4DIP, ANKRD49, TDP1, FAM199X, VPS13B, SSMEM1, NXF2, FKBPL, FAM83D, HMMR, HSPA8, CACNG5, APC, TRIM25 | GSDMA | PARK2, SUZ12, IFI16, CEP152, FOXH1, MCM2, ZIC1, TBC1D22B, ZSCAN12, DDX19B, CYLD |
- 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 CSNK1D_GSDMA |
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 CSNK1D_GSDMA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CSNK1D | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | CSNK1D | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | CSNK1D | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | CSNK1D | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Hgene | CSNK1D | C3808874 | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 | 1 | UNIPROT |