|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 33663 |
FusionGeneSummary for SH3GLB1_CSNK2A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3GLB1_CSNK2A1 | Fusion gene ID: 33663 | Hgene | Tgene | Gene symbol | SH3GLB1 | CSNK2A1 | Gene ID | 51100 | 1459 |
| Gene name | SH3 domain containing GRB2 like, endophilin B1 | casein kinase 2 alpha 2 | |
| Synonyms | Bif-1|CGI-61|PPP1R70|dJ612B15.2 | CK2A2|CK2alpha'|CSNK2A1 | |
| Cytomap | 1p22.3 | 16q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endophilin-B1Bax-interacting factor 1SH3 domain-containing GRB2-like protein B1SH3-containing protein SH3GLB1SH3-domain GRB2 like endophilin B1protein phosphatase 1, regulatory subunit 70testicular tissue protein Li 172 | casein kinase II subunit alpha'CK II alpha'casein kinase 2 alpha'casein kinase 2, alpha prime polypeptide | |
| Modification date | 20180522 | 20180529 | |
| UniProtAcc | Q9Y371 | P68400 | |
| Ensembl transtripts involved in fusion gene | ENST00000370558, ENST00000535010, ENST00000482504, | ENST00000400227, ENST00000349736, ENST00000217244, ENST00000400217, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 4 X 2=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SH3GLB1 [Title/Abstract] AND CSNK2A1 [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 | SH3GLB1 | GO:0032461 | positive regulation of protein oligomerization | 19074440 |
| Hgene | SH3GLB1 | GO:0051259 | protein complex oligomerization | 19805544 |
| 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 | AW610498 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| * 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-intron | ENST00000370558 | ENST00000400227 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000370558 | ENST00000349736 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000370558 | ENST00000217244 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000370558 | ENST00000400217 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000535010 | ENST00000400227 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000535010 | ENST00000349736 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000535010 | ENST00000217244 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000535010 | ENST00000400217 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000482504 | ENST00000400227 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000482504 | ENST00000349736 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000482504 | ENST00000217244 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
| 5CDS-intron | ENST00000482504 | ENST00000400217 | SH3GLB1 | chr1 | 87207920 | - | CSNK2A1 | chr20 | 488014 | + |
Top |
FusionProtFeatures for SH3GLB1_CSNK2A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3GLB1 | CSNK2A1 |
| May be required for normal outer mitochondrial membranedynamics (PubMed:15452144). Required for coatomer-mediatedretrograde transport in certain cells (By similarity). May recruitother proteins to membranes with high curvature. May promotemembrane fusion (PubMed:11604418). Involved in activation ofcaspase-dependent apoptosis by promoting BAX/BAK1 activation(PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (Bysimilarity). Involved in caspase-independent apoptosis duringnutrition starvation and involved in the regulation of autophagy.Activates lipid kinase activity of PIK3C3 during autophagyprobably by associating with the PI3K complex II (PI3KC3-C2)(PubMed:17891140). Associated with PI3KC3-C2 during autophagy mayregulate the trafficking of ATG9A from the Golgi complex to theperipheral cytoplasm for the formation of autophagosomes byinducing Golgi membrane tubulation and fragmentation(PubMed:21068542). Involved in regulation of degradative endocytictrafficking and cytokinesis, probably in the context of PI3KC3-C2(PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells;involved in maintenance of mitochondrial morphology and promotesneuronal viability (By similarity). {ECO:0000250|UniProtKB:Q9JK48,ECO:0000269|PubMed:11604418, ECO:0000269|PubMed:15452144,ECO:0000269|PubMed:17891140, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:21068542}. | Catalytic subunit of a constitutively activeserine/threonine-protein kinase complex that phosphorylates alarge number of substrates containing acidic residues C-terminalto the phosphorylated serine or threonine. Regulates numerouscellular processes, such as cell cycle progression, apoptosis andtranscription, as well as viral infection. May act as a regulatorynode which integrates and coordinates numerous signals leading toan appropriate cellular response. During mitosis, functions as acomponent of the p53/TP53-dependent spindle assembly checkpoint(SAC) that maintains cyclin-B-CDK1 activity and G2 arrest inresponse to spindle damage. Also required for p53/TP53-mediatedapoptosis, phosphorylating 'Ser-392' of p53/TP53 following UVirradiation. Can also negatively regulate apoptosis.Phosphorylates the caspases CASP9 and CASP2 and the apoptoticregulator NOL3. Phosphorylation protects CASP9 from cleavage andactivation by CASP8, and inhibits the dimerization of CASP2 andactivation of CASP8. Regulates transcription by directphosphorylation of RNA polymerases I, II, III and IV. Alsophosphorylates and regulates numerous transcription factorsincluding NF-kappa-B, STAT1, CREB1, IRF1, IRF2, ATF1, SRF, MAX,JUN, FOS, MYC and MYB. Phosphorylates Hsp90 and its co-chaperonesFKBP4 and CDC37, which is essential for chaperone function.Regulates Wnt signaling by phosphorylating CTNNB1 and thetranscription factor LEF1. Acts as an ectokinase thatphosphorylates several extracellular proteins. During viralinfection, phosphorylates various proteins involved in the virallife cycles of EBV, HSV, HBV, HCV, HIV, CMV and HPV.Phosphorylates PML at 'Ser-565' and primes it for ubiquitin-mediated degradation. Plays an important role in the circadianclock function by phosphorylating ARNTL/BMAL1 at 'Ser-90' which ispivotal for its interaction with CLOCK and which controls CLOCKnuclear entry (PubMed:11239457, PubMed:11704824, PubMed:16193064,PubMed:19188443, PubMed:20625391, PubMed:22406621). PhosphorylatesCCAR2 at 'Thr-454' in gastric carcinoma tissue (PubMed:24962073).{ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:11704824,ECO:0000269|PubMed:16193064, ECO:0000269|PubMed:19188443,ECO:0000269|PubMed:20625391, ECO:0000269|PubMed:22406621,ECO:0000269|PubMed:24962073}. |
| 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 SH3GLB1_CSNK2A1 |
| 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 SH3GLB1_CSNK2A1 |
| 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 SH3GLB1_CSNK2A1 |
| 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 SH3GLB1_CSNK2A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CSNK2A1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Tgene | CSNK2A1 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| Tgene | CSNK2A1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|