Fusion gene information | Fusion gene name: ANGPTL6-CASP8 |
Fusion gene ID: hg83854tg841 | | Hgene | Tgene | Gene symbol | ANGPTL6 | CASP8 | Gene ID | 83854 | 841 | Gene name | angiopoietin like 6 | caspase 8 |
Synonyms | AGF|ARP5 | ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5 |
Cytomap | ('ANGPTL6')('CASP8') 19p13.2 | 2q33.1 |
Type of gene | protein-coding | protein-coding |
Description | angiopoietin-related protein 6angiopoietin-like protein 6angiopoietin-related growth factorangiopoietin-related protein 5 | caspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relat |
Modification date | 20200313 | 20200322 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000253109, ENST00000589181, ENST00000592641, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 3=48 |
# samples | 2 | 5 |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 |
Context | PubMed: ANGPTL6 [Title/Abstract] AND CASP8 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ANGPTL6(10206496)-CASP8(202098278), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
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}. | 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 |
Hgene | ANGPTL6 | C1862932 | ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) | 1 | ORPHANET |
Hgene | ANGPTL6 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | | C0006142 | Malignant neoplasm of breast | 4 | CGI;CTD_human |
Tgene | | C0678222 | Breast Carcinoma | 4 | CGI;CTD_human |
Tgene | | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human |
Tgene | | C1458155 | Mammary Neoplasms | 4 | CTD_human |
Tgene | | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human |
Tgene | | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | | C0014859 | Esophageal Neoplasms | 2 | CTD_human |
Tgene | | C0025202 | melanoma | 2 | CTD_human |
Tgene | | C0546837 | Malignant neoplasm of esophagus | 2 | CTD_human |
Tgene | | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Tgene | | C0007131 | Non-Small Cell Lung 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 | | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | | C0013604 | Edema | 1 | CTD_human |
Tgene | | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Tgene | | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Tgene | | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Tgene | | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Tgene | | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | | C0037286 | Skin Neoplasms | 1 | CTD_human |
Tgene | | C0038220 | Status Epilepticus | 1 | CTD_human |
Tgene | | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | | C0151603 | Anasarca | 1 | CTD_human |
Tgene | | C0162351 | Contact hypersensitivity | 1 | CTD_human |
Tgene | | C0162820 | Dermatitis, Allergic Contact | 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 | | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Tgene | | C0270823 | Petit mal status | 1 | CTD_human |
Tgene | | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET |
Tgene | | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Tgene | | C0343641 | Human papilloma virus infection | 1 | CTD_human |
Tgene | | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Tgene | | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Tgene | | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Tgene | | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Tgene | | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human |
Tgene | | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Tgene | | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Tgene | | C2931456 | Prostate cancer, familial | 1 | CTD_human |
Tgene | | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Tgene | | C4048328 | cervical cancer | 1 | CTD_human |
Tgene | | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |