Fusion gene information | Fusion gene name: EEF2K-BIRC5 |
Fusion gene ID: hg29904tg332 | | Hgene | Tgene | Gene symbol | EEF2K | BIRC5 | Gene ID | 29904 | 332 | Gene name | eukaryotic elongation factor 2 kinase | baculoviral IAP repeat containing 5 |
Synonyms | CaMKIII|HSU93850|eEF-2K | API4|EPR-1 |
Cytomap | ('EEF2K')('BIRC5') 16p12.2 | 17q25.3 |
Type of gene | protein-coding | protein-coding |
Description | eukaryotic elongation factor 2 kinasealternative protein EEF2Kcalcium/calmodulin-dependent eukaryotic elongation factor-2 kinasecalmodulin-dependent protein kinase IIIeEF-2 kinaseelongation factor-2 kinaseeukaroytic elongation factor 2 kinase | baculoviral IAP repeat-containing protein 5apoptosis inhibitor 4apoptosis inhibitor survivinsurvivin variant 3 alpha |
Modification date | 20200313 | 20200329 |
UniProtAcc | O00418 | . |
Ensembl transtripts involved in fusion gene | ENST00000263026, ENST00000561791,
| |
Fusion gene scores | * DoF score | 9 X 9 X 8=648 | 4 X 4 X 3=48 |
# samples | 14 | 4 |
** MAII score | log2(14/648*10)=-2.21056698593966 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: EEF2K [Title/Abstract] AND BIRC5 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | EEF2K(22253698)-BIRC5(76221106), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
EEF2K
O00418 | . |
FUNCTION: Threonine kinase that regulates protein synthesis by controlling the rate of peptide chain elongation. Upon activation by a variety of upstream kinases including AMPK or TRPM7, phosphorylates the elongation factor EEF2 at a single site, renders it unable to bind ribosomes and thus inactive. In turn, the rate of protein synthesis is reduced. {ECO:0000269|PubMed:14709557, ECO:0000269|PubMed:9144159}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | | C0919267 | ovarian neoplasm | 4 | CTD_human |
Tgene | | C1140680 | Malignant neoplasm of ovary | 4 | CTD_human |
Tgene | | C0006142 | Malignant neoplasm of breast | 2 | CTD_human |
Tgene | | C0007102 | Malignant tumor of colon | 2 | CTD_human |
Tgene | | C0009375 | Colonic Neoplasms | 2 | CTD_human |
Tgene | | C0024121 | Lung Neoplasms | 2 | CTD_human |
Tgene | | C0242379 | Malignant neoplasm of lung | 2 | CTD_human |
Tgene | | C0678222 | Breast Carcinoma | 2 | CTD_human |
Tgene | | C1257931 | Mammary Neoplasms, Human | 2 | CTD_human |
Tgene | | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Tgene | | C2239176 | Liver carcinoma | 2 | CTD_human |
Tgene | | C4704874 | Mammary Carcinoma, Human | 2 | CTD_human |
Tgene | | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Tgene | | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Tgene | | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
Tgene | | C0023462 | Acute Megakaryocytic Leukemias | 1 | CTD_human |
Tgene | | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
Tgene | | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Tgene | | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
Tgene | | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Tgene | | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
Tgene | | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
Tgene | | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
Tgene | | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
Tgene | | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
Tgene | | C0262584 | Carcinoma, Small Cell | 1 | CTD_human |
Tgene | | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | | C0476089 | Endometrial Carcinoma | 1 | CTD_human |
Tgene | | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Tgene | | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human |
Tgene | | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Tgene | | C4048328 | cervical cancer | 1 | CTD_human |