Fusion gene information | Fusion gene name: GIPC1-ADAM12 |
Fusion gene ID: hg10755tg8038 | | Hgene | Tgene | Gene symbol | GIPC1 | ADAM12 | Gene ID | 10755 | 8038 | Gene name | GIPC PDZ domain containing family member 1 | ADAM metallopeptidase domain 12 |
Synonyms | C19orf3|GIPC|GLUT1CBP|Hs.6454|IIP-1|NIP|RGS19IP1|SEMCAP|SYNECTIIN|SYNECTIN|TIP-2 | ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA |
Cytomap | ('GIPC1')('ADAM12') 19p13.12 | 10q26.2 |
Type of gene | protein-coding | protein-coding |
Description | PDZ domain-containing protein GIPC1GAIP C-terminus-interacting proteinGLUT1 C-terminal binding proteinIGF-1 receptor interacting protein 1RGS-GAIP-interacting proteinRGS19-interacting protein 1regulator of G-protein signalling 19 interacting protein | disintegrin and metalloproteinase domain-containing protein 12meltrin-alphametalloprotease-disintegrin 12 transmembrane |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000345425, ENST00000393028, ENST00000393029, ENST00000393033, ENST00000586027, ENST00000591349,
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Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 14 X 15 X 4=840 |
# samples | 7 | 17 |
** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/840*10)=-2.30485458152842 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: GIPC1 [Title/Abstract] AND ADAM12 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | GIPC1(14591141)-ADAM12(127755336), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
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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}. |