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Fusion gene ID: 15523 |
FusionGeneSummary for GSK3A_CDH12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GSK3A_CDH12 | Fusion gene ID: 15523 | Hgene | Tgene | Gene symbol | GSK3A | CDH12 | Gene ID | 2931 | 1010 |
| Gene name | glycogen synthase kinase 3 alpha | cadherin 12 | |
| Synonyms | - | CDHB | |
| Cytomap | 19q13.2 | 5p14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glycogen synthase kinase-3 alphaGSK-3 alphaserine/threonine-protein kinase GSK3A | cadherin-12Br-cadherinN-cadherin 2brain-cadherincadherin, neural type, 2neural type cadherin 2neuronal cadherin 2 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P49840 | P55289 | |
| Ensembl transtripts involved in fusion gene | ENST00000222330, ENST00000398249, | ENST00000504376, ENST00000382254, ENST00000522262, ENST00000521384, | |
| Fusion gene scores | * DoF score | 7 X 5 X 5=175 | 9 X 9 X 7=567 |
| # samples | 7 | 9 | |
| ** MAII score | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/567*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GSK3A [Title/Abstract] AND CDH12 [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 | GSK3A | GO:0006468 | protein phosphorylation | 11035810 |
| Hgene | GSK3A | GO:0018107 | peptidyl-threonine phosphorylation | 25897075 |
| 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 | CB956912 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| * 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 | ENST00000222330 | ENST00000504376 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000222330 | ENST00000382254 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000222330 | ENST00000522262 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000222330 | ENST00000521384 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000398249 | ENST00000504376 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000398249 | ENST00000382254 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000398249 | ENST00000522262 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
| intron-intron | ENST00000398249 | ENST00000521384 | GSK3A | chr19 | 42743135 | - | CDH12 | chr5 | 21978541 | + |
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FusionProtFeatures for GSK3A_CDH12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GSK3A | CDH12 |
| Constitutively active protein kinase that acts as anegative regulator in the hormonal control of glucose homeostasis,Wnt signaling and regulation of transcription factors andmicrotubules, by phosphorylating and inactivating glycogensynthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1.Requires primed phosphorylation of the majority of its substrates.Contributes to insulin regulation of glycogen synthesis byphosphorylating and inhibiting GYS1 activity and hence glycogensynthesis. Regulates glycogen metabolism in liver, but not inmuscle. May also mediate the development of insulin resistance byregulating activation of transcription factors. In Wnt signaling,regulates the level and transcriptional activity of nuclearCTNNB1/beta-catenin. Facilitates amyloid precursor protein (APP)processing and the generation of APP-derived amyloid plaques foundin Alzheimer disease. May be involved in the regulation ofreplication in pancreatic beta-cells. Is necessary for theestablishment of neuronal polarity and axon outgrowth. Throughphosphorylation of the anti-apoptotic protein MCL1, may controlcell apoptosis in response to growth factors deprivation.{ECO:0000269|PubMed:12761548, ECO:0000269|PubMed:17229088}. | Cadherins are calcium-dependent cell adhesion proteins.They preferentially interact with themselves in a homophilicmanner in connecting cells; cadherins may thus contribute to thesorting of heterogeneous cell types. |
| 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 GSK3A_CDH12 |
| 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 GSK3A_CDH12 |
| 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 GSK3A_CDH12 |
| 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 GSK3A_CDH12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GSK3A | C0005586 | Bipolar Disorder | 1 | CTD_human |
| Hgene | GSK3A | C0011581 | Depressive disorder | 1 | CTD_human |
| Hgene | GSK3A | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | CDH12 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
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