Fusion gene information | Fusion gene name: C19orf60-NR4A2 |
Fusion gene ID: hg55049tg4929 | | Hgene | Tgene | Gene symbol | C19orf60 | NR4A2 | Gene ID | 55049 | 4929 | Gene name | required for excision 1-B domain containing | nuclear receptor subfamily 4 group A member 2 |
Synonyms | C19orf60 | HZF-3|NOT|NURR1|RNR1|TINUR |
Cytomap | ('C19orf60')('NR4A2') 19p13.11 | 2q24.1 |
Type of gene | protein-coding | protein-coding |
Description | required for excision 1-B domain-containing proteinuncharacterized protein C19orf60 | nuclear receptor subfamily 4 group A member 2NGFI-B/nur77 beta-type transcription factor homologT-cell nuclear receptor NOTimmediate-early response protein NOTintermediate-early receptor proteinnuclear receptor related 1nur related protein-1, human |
Modification date | 20200320 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000358607, ENST00000450195,
| |
Fusion gene scores | * DoF score | 3 X 4 X 3=36 | 4 X 6 X 3=72 |
# samples | 4 | 5 |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/72*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: C19orf60 [Title/Abstract] AND NR4A2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | C19orf60(18700448)-NR4A2(157186240), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | C19orf60-NR4A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. C19orf60-NR4A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. C19orf60-NR4A2 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
|
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 | | C0036341 | Schizophrenia | 5 | PSYGENET |
Tgene | | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | | C0003872 | Arthritis, Psoriatic | 1 | CTD_human |
Tgene | | C0004352 | Autistic Disorder | 1 | GENOMICS_ENGLAND |
Tgene | | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | | C0009171 | Cocaine Abuse | 1 | PSYGENET |
Tgene | | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Tgene | | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | | C0023015 | Language Disorders | 1 | GENOMICS_ENGLAND |
Tgene | | C0037274 | Dermatologic disorders | 1 | CTD_human |
Tgene | | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
Tgene | | C0233514 | Abnormal behavior | 1 | GENOMICS_ENGLAND |
Tgene | | C0274861 | Arsenic Poisoning, Inorganic | 1 | CTD_human |
Tgene | | C0274862 | Nervous System, Organic Arsenic Poisoning | 1 | CTD_human |
Tgene | | C0311375 | Arsenic Poisoning | 1 | CTD_human |
Tgene | | C0751851 | Arsenic Encephalopathy | 1 | CTD_human |
Tgene | | C0751852 | Arsenic Induced Polyneuropathy | 1 | CTD_human |
Tgene | | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Tgene | | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
Tgene | | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
Tgene | | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |