Fusion gene information | Fusion gene name: DSCR8-GRIK2 |
Fusion gene ID: hg84677tg2898 | | Hgene | Tgene | Gene symbol | DSCR8 | GRIK2 | Gene ID | 84677 | 2898 | Gene name | Down syndrome critical region 8 | glutamate ionotropic receptor kainate type subunit 2 |
Synonyms | C21orf65|CT25.1a|CT25.1b|MMA-1|MMA-1a|MMA-1b|MMA1|MTAG2 | EAA4|GLR6|GLUK6|GLUR6|GluK2|MRT6 |
Cytomap | ('DSCR8')('GRIK2') 21q22.13 | 6q16.3 |
Type of gene | ncRNA | protein-coding |
Description | Down syndrome critical region 8 (non-protein coding)Down syndrome critical region gene 8cancer/testis antigen family 25, member 1acancer/testis antigen family 25, member 1bmalignant melanoma associated protein 1malignant melanoma-associated 1melanom | glutamate receptor ionotropic, kainate 2bA487F5.1excitatory amino acid receptor 4gluR-6glutamate receptor 6glutamate receptor form Aglutamate receptor form Bglutamate receptor form Cglutamate receptor form Dglutamate receptor form E |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000357704, ENST00000400477, ENST00000465532, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 13 X 18 X 5=1170 |
# samples | 3 | 17 |
** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(17/1170*10)=-2.78290187833307 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: DSCR8 [Title/Abstract] AND GRIK2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | DSCR8(39528602)-GRIK2(101986857), # 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 |
Tgene | | C0005586 | Bipolar Disorder | 3 | CTD_human;PSYGENET |
Tgene | | C0004352 | Autistic Disorder | 2 | CTD_human |
Tgene | | C0005587 | Depression, Bipolar | 1 | CTD_human |
Tgene | | C0006142 | Malignant neoplasm of breast | 1 | CTD_human;UNIPROT |
Tgene | | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Tgene | | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | | C0013146 | Drug abuse | 1 | CTD_human |
Tgene | | C0013170 | Drug habituation | 1 | CTD_human |
Tgene | | C0013222 | Drug Use Disorders | 1 | CTD_human |
Tgene | | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Tgene | | C0016722 | Frigidity | 1 | CTD_human |
Tgene | | C0017636 | Glioblastoma | 1 | CTD_human |
Tgene | | C0020594 | Hypoactive Sexual Desire Disorder | 1 | CTD_human |
Tgene | | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
Tgene | | C0024713 | Manic Disorder | 1 | CTD_human |
Tgene | | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
Tgene | | C0029261 | Orgasmic Disorder | 1 | CTD_human |
Tgene | | C0033953 | Psychosexual Disorders | 1 | CTD_human |
Tgene | | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | | C0036902 | Sexual Arousal Disorder | 1 | CTD_human |
Tgene | | C0038580 | Substance Dependence | 1 | CTD_human |
Tgene | | C0038586 | Substance Use Disorders | 1 | CTD_human |
Tgene | | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Tgene | | C0338831 | Manic | 1 | CTD_human |
Tgene | | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Tgene | | C0525045 | Mood Disorders | 1 | PSYGENET |
Tgene | | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
Tgene | | C0678222 | Breast Carcinoma | 1 | CTD_human |
Tgene | | C0740858 | Substance abuse problem | 1 | CTD_human |
Tgene | | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
Tgene | | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Tgene | | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | | C1510472 | Drug Dependence | 1 | CTD_human |
Tgene | | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Tgene | | C1970198 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 | 1 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
Tgene | | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |