| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Kinase Fusion Gene:SKA2_CIT |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: SKA2_CIT | KinaseFusionDB ID: KFG5845 | FusionGDB2.0 ID: KFG5845 | Hgene | Tgene | Gene symbol | SKA2 | CIT | Gene ID | 348235 | 79947 | |
| Gene name | spindle and kinetochore associated complex subunit 2 | |||||||||||
| Synonyms | FAM33A | |||||||||||
| Cytomap | 17q22 | |||||||||||
| Type of gene | protein-coding | |||||||||||
| Description | spindle and kinetochore-associated protein 2family with sequence similarity 33, member Aspindle and KT (kinetochore) associated 2 | |||||||||||
| Modification date | 20240407 | |||||||||||
| UniProtAcc | Q8WVK7 | Q96RK1 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000330137, ENST00000580541, ENST00000578105, ENST00000583927, ENST00000581068, ENST00000437036, ENST00000583380, | ENST00000392521, ENST00000261833, ENST00000537607, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: SKA2 [Title/Abstract] AND CIT [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ||||||||||||
| 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 | SKA2 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 19289083 |
| Hgene | SKA2 | GO:0051315 | attachment of mitotic spindle microtubules to kinetochore | 29487209 |
| Kinase Fusion gene breakpoints across SKA2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across CIT (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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. |
| Source | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| CCLE | HSC-4 | SKA2 | chr17 | 57232492 | CIT | chr12 | 120348832 |
Top |
Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
Top |
Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
Top |
Kinase Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SKA2 | CIT |
| FUNCTION: Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation (PubMed:17093495, PubMed:19289083, PubMed:23085020). Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint (PubMed:17093495). The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies (PubMed:19289083). The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner (PubMed:17093495, PubMed:19289083). In the complex, it is required for SKA1 localization (PubMed:19289083). Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules (PubMed:23085020). {ECO:0000269|PubMed:17093495, ECO:0000269|PubMed:19289083, ECO:0000269|PubMed:23085020}. | FUNCTION: Acts as a transcriptional coactivator for TFAP2/AP-2. Enhances estrogen-dependent transactivation mediated by estrogen receptors. May function as an inhibitor of transactivation by HIF1A by disrupting HIF1A interaction with CREBBP. May be involved in regulation of gene expression during development and differentiation of blood cells, endothelial cells and mammary epithelial cells. {ECO:0000269|PubMed:11744733, ECO:0000269|PubMed:15342390}. |
| 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. |
| - Retained domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
Top |
Kinase-Substrate Information of SKA2_CIT |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| CIT | O14578 | human | GLI2 | P10070 | S149 | IsAArGLsPADVAQE | |
| CIT | O14578 | human | MYL9 | P24844 | T19 | KKRPQRAtsNVFAMF | |
| CIT | O14578 | human | MYL9 | P24844 | S20 | KRPQRAtsNVFAMFD |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| CIT | ID | Description | 0.00e+00 |
| CIT | GO:0033089 | positive regulation of T cell differentiation in thymus | 2.55e-02 |
| CIT | GO:0033504 | floor plate development | 2.55e-02 |
| CIT | GO:0060579 | ventral spinal cord interneuron fate commitment | 2.55e-02 |
| CIT | GO:0060581 | cell fate commitment involved in pattern specification | 2.55e-02 |
| CIT | GO:0021514 | ventral spinal cord interneuron differentiation | 2.55e-02 |
| CIT | GO:0002076 | osteoblast development | 2.55e-02 |
| CIT | GO:0021513 | spinal cord dorsal/ventral patterning | 2.55e-02 |
| CIT | GO:0021511 | spinal cord patterning | 2.55e-02 |
| CIT | GO:0033081 | regulation of T cell differentiation in thymus | 2.55e-02 |
| CIT | GO:0021952 | central nervous system projection neuron axonogenesis | 2.55e-02 |
| CIT | GO:0031069 | hair follicle morphogenesis | 2.55e-02 |
| CIT | GO:0048566 | embryonic digestive tract development | 2.55e-02 |
| CIT | GO:0009954 | proximal/distal pattern formation | 2.55e-02 |
| CIT | GO:0048665 | neuron fate specification | 2.55e-02 |
| CIT | GO:0021696 | cerebellar cortex morphogenesis | 2.55e-02 |
| CIT | GO:0048730 | epidermis morphogenesis | 2.55e-02 |
| CIT | GO:0045740 | positive regulation of DNA replication | 2.55e-02 |
| CIT | GO:0021955 | central nervous system neuron axonogenesis | 2.55e-02 |
| CIT | GO:0021983 | pituitary gland development | 2.55e-02 |
| CIT | GO:0021587 | cerebellum morphogenesis | 2.55e-02 |
| CIT | GO:0021517 | ventral spinal cord development | 2.55e-02 |
| CIT | GO:0021575 | hindbrain morphogenesis | 2.55e-02 |
| CIT | GO:0048546 | digestive tract morphogenesis | 2.55e-02 |
| CIT | GO:0021515 | cell differentiation in spinal cord | 2.55e-02 |
| CIT | GO:0021695 | cerebellar cortex development | 2.55e-02 |
| CIT | GO:0030239 | myofibril assembly | 3.14e-02 |
| CIT | GO:0070527 | platelet aggregation | 3.14e-02 |
| CIT | GO:0048663 | neuron fate commitment | 3.14e-02 |
| CIT | GO:0055002 | striated muscle cell development | 3.14e-02 |
| CIT | GO:0021536 | diencephalon development | 3.15e-02 |
| CIT | GO:0033077 | T cell differentiation in thymus | 3.15e-02 |
| CIT | GO:0021954 | central nervous system neuron development | 3.15e-02 |
| CIT | GO:0001942 | hair follicle development | 3.15e-02 |
| CIT | GO:0042475 | odontogenesis of dentin-containing tooth | 3.15e-02 |
| CIT | GO:0022404 | molting cycle process | 3.15e-02 |
| CIT | GO:0022405 | hair cycle process | 3.15e-02 |
| CIT | GO:0034109 | homotypic cell-cell adhesion | 3.15e-02 |
| CIT | GO:0009953 | dorsal/ventral pattern formation | 3.15e-02 |
| CIT | GO:0021510 | spinal cord development | 3.15e-02 |
| CIT | GO:0021549 | cerebellum development | 3.15e-02 |
| CIT | GO:0001708 | cell fate specification | 3.15e-02 |
| CIT | GO:0022037 | metencephalon development | 3.15e-02 |
| CIT | GO:0045582 | positive regulation of T cell differentiation | 3.15e-02 |
| CIT | GO:0042303 | molting cycle | 3.15e-02 |
| CIT | GO:0042633 | hair cycle | 3.15e-02 |
| CIT | GO:0006275 | regulation of DNA replication | 3.15e-02 |
| CIT | GO:0010927 | cellular component assembly involved in morphogenesis | 3.15e-02 |
| CIT | GO:0098773 | skin epidermis development | 3.15e-02 |
| CIT | GO:0045621 | positive regulation of lymphocyte differentiation | 3.15e-02 |
Top |
Related Drugs to SKA2_CIT |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning SKA2-CIT and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
Top |
Related Diseases to SKA2_CIT |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Top |
Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
Copyright 2024-Present -The University of Texas Health Science Center at Houston
Web File Viewing | Emergency Information |Campus Carry|Site Policies |