|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 40093 |
FusionGeneSummary for TUBB2B_DYRK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TUBB2B_DYRK2 | Fusion gene ID: 40093 | Hgene | Tgene | Gene symbol | TUBB2B | DYRK2 | Gene ID | 347733 | 8445 |
| Gene name | tubulin beta 2B class IIb | dual specificity tyrosine phosphorylation regulated kinase 2 | |
| Synonyms | CDCBM7|PMGYSA|bA506K6.1 | - | |
| Cytomap | 6p25.2 | 12q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tubulin beta-2B chainclass II beta-tubulin isotypeclass IIb beta-tubulintubulin, beta 2Btubulin, beta polypeptide paralog | dual specificity tyrosine-phosphorylation-regulated kinase 2dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9BVA1 | Q92630 | |
| Ensembl transtripts involved in fusion gene | ENST00000259818, ENST00000473006, | ENST00000344096, ENST00000393555, ENST00000537632, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 4 X 6=168 |
| # samples | 2 | 10 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TUBB2B [Title/Abstract] AND DYRK2 [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 |
| Tgene | DYRK2 | GO:0006468 | protein phosphorylation | 11311121 |
| Tgene | DYRK2 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17349958 |
| Tgene | DYRK2 | GO:0045725 | positive regulation of glycogen biosynthetic process | 11311121 |
| 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 | DA506064 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| * 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 | ENST00000259818 | ENST00000344096 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| intron-3CDS | ENST00000259818 | ENST00000393555 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| intron-intron | ENST00000259818 | ENST00000537632 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| intron-3CDS | ENST00000473006 | ENST00000344096 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| intron-3CDS | ENST00000473006 | ENST00000393555 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
| intron-intron | ENST00000473006 | ENST00000537632 | TUBB2B | chr6 | 3225949 | - | DYRK2 | chr12 | 68052307 | + |
Top |
FusionProtFeatures for TUBB2B_DYRK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TUBB2B | DYRK2 |
| Tubulin is the major constituent of microtubules(PubMed:23001566, PubMed:28013290, PubMed:26732629). It binds twomoles of GTP, one at an exchangeable site on the beta chain andone at a non-exchangeable site on the alpha chain (By similarity).Plays a critical role in proper axon guidance in both central andperipheral axon tracts (PubMed:23001566). Implicated in neuronalmigration (PubMed:19465910). {ECO:0000250,ECO:0000269|PubMed:19465910, ECO:0000269|PubMed:23001566,ECO:0000269|PubMed:26732629, ECO:0000269|PubMed:28013290}. | Serine/threonine-protein kinase involved in theregulation of the mitotic cell cycle, cell proliferation,apoptosis, organization of the cytoskeleton and neurite outgrowth.Functions in part via its role in ubiquitin-dependent proteasomalprotein degradation. Functions downstream of ATM andphosphorylates p53/TP53 at 'Ser-46', and thereby contributes tothe induction of apoptosis in response to DNA damage.Phosphorylates NFATC1, and thereby inhibits its accumulation inthe nucleus and its transcription factor activity. PhosphorylatesEIF2B5 at 'Ser-544', enabling its subsequent phosphorylation andinhibition by GSK3B. Likewise, phosphorylation of NFATC1,CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequentphosphorylation by GSK3B. May play a general role in the primingof GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thusregulating glycogen synthesis. Mediates EDVP E3 ligase complexformation and is required for the phosphorylation and subsequentdegradation of KATNA1. Phosphorylates TERT at 'Ser-457', promotingTERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, andthereby increases its ubiquitin ligase activity. Promotes theproteasomal degradation of MYC and JUN, and thereby regulatesprogress through the mitotic cell cycle and cell proliferation.Promotes proteasomal degradation of GLI2 and GLI3, and therebyplays a role in smoothened and sonic hedgehog signaling. Plays arole in cytoskeleton organization and neurite outgrowth via itsphosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2,CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2,MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylatehistone H1, histone H3 and histone H2B (in vitro). Canphosphorylate CARHSP1 (in vitro). {ECO:0000269|PubMed:11311121,ECO:0000269|PubMed:12588975, ECO:0000269|PubMed:14593110,ECO:0000269|PubMed:15910284, ECO:0000269|PubMed:16511445,ECO:0000269|PubMed:16611631, ECO:0000269|PubMed:17349958,ECO:0000269|PubMed:18455992, ECO:0000269|PubMed:18599021,ECO:0000269|PubMed:19287380, ECO:0000269|PubMed:22307329,ECO:0000269|PubMed:22878263, ECO:0000269|PubMed:23362280,ECO:0000269|PubMed:9748265}. |
| 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 |
Top |
FusionGeneSequence for TUBB2B_DYRK2 |
| 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). |
Top |
FusionGenePPI for TUBB2B_DYRK2 |
| 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 |
Top |
RelatedDrugs for TUBB2B_DYRK2 |
| 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 |
Top |
RelatedDiseases for TUBB2B_DYRK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TUBB2B | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Hgene | TUBB2B | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Hgene | TUBB2B | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
| Hgene | TUBB2B | C3552236 | POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|