Fusion gene information | Fusion gene name: PTGER3-ABCA5 |
Fusion gene ID: hg5733tg23461 | | Hgene | Tgene | Gene symbol | PTGER3 | ABCA5 | Gene ID | 5733 | 23461 | Gene name | prostaglandin E receptor 3 | ATP binding cassette subfamily A member 5 |
Synonyms | EP3|EP3-I|EP3-II|EP3-III|EP3-IV|EP3-VI|EP3e|PGE2-R|lnc003875 | ABC13|EST90625|HTC3 |
Cytomap | ('PTGER3')('ABCA5') 1p31.1 | 17q24.3 |
Type of gene | protein-coding | protein-coding |
Description | prostaglandin E2 receptor EP3 subtypePGE receptor, EP3 subtypePGE2 receptor EP3 subtypeprostaglandin E receotor EP3 subtype 3 isoformprostaglandin E receptor 3 (subtype EP3)prostaglandin receptor (PGE-2)prostanoid EP3 receptor | ATP-binding cassette sub-family A member 5ATP-binding cassette A5ATP-binding cassette, sub-family A (ABC1), member 5 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000306666, ENST00000351052, ENST00000354608, ENST00000356595, ENST00000370924, ENST00000370931, ENST00000370932, ENST00000414819, ENST00000460330, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 6 X 3=90 |
# samples | 1 | 5 |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: PTGER3 [Title/Abstract] AND ABCA5 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | PTGER3(71319394)-ABCA5(67243364), # samples:1
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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 | PTGER3 | C0013182 | Drug Allergy | 1 | CTD_human |
Hgene | PTGER3 | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human |
Hgene | PTGER3 | C0030804 | Pemphigoid, Benign Mucous Membrane | 1 | CTD_human |
Hgene | PTGER3 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | PTGER3 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | PTGER3 | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | PTGER3 | C0040053 | Thrombosis | 1 | CTD_human |
Hgene | PTGER3 | C0087086 | Thrombus | 1 | CTD_human |
Hgene | PTGER3 | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | PTGER3 | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human |
Hgene | PTGER3 | C1282359 | Ocular Cicatricial Pemphigoid | 1 | CTD_human |
Hgene | PTGER3 | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human |
Hgene | PTGER3 | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |
Tgene | | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Tgene | | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | | C1851120 | Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia | 1 | CTD_human;ORPHANET |