Fusion gene information | Fusion gene name: PIGT-ADAMTS2 |
Fusion gene ID: hg51604tg9509 | | Hgene | Tgene | Gene symbol | PIGT | ADAMTS2 | Gene ID | 51604 | 9509 | Gene name | phosphatidylinositol glycan anchor biosynthesis class T | ADAM metallopeptidase with thrombospondin type 1 motif 2 |
Synonyms | CGI-06|MCAHS3|NDAP|PNH2 | ADAM-TS2|ADAMTS-2|ADAMTS-3|EDSDERMS|NPI|PC I-NP|PCI-NP|PCINP|PCPNI|PNPI |
Cytomap | ('PIGT')('ADAMTS2') 20q13.12 | 5q35.3 |
Type of gene | protein-coding | protein-coding |
Description | GPI transamidase component PIG-TGPI transamidase subunitneurotrophin-regulated neuronal development-associated proteinphosphatidylinositol-glycan biosynthesis class T protein | A disintegrin and metalloproteinase with thrombospondin motifs 2a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2procollagen I N-proteinaseprocollagen I/II amino propeptide-processing enzymeprocollagen N-endo |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000279036, ENST00000372689, ENST00000535404, ENST00000279035, ENST00000341555, ENST00000543458, ENST00000545755, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 6 X 6 X 3=108 |
# samples | 4 | 6 |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: PIGT [Title/Abstract] AND ADAMTS2 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | PIGT(44045334)-ADAMTS2(178658090), # 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 | PIGT | C3809356 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | PIGT | C0019050 | Hemoglobinuria, Paroxysmal | 1 | CTD_human |
Hgene | PIGT | C0024790 | Paroxysmal nocturnal hemoglobinuria | 1 | CTD_human |
Hgene | PIGT | C0086774 | Cold paroxysmal hemoglobinuria | 1 | CTD_human |
Hgene | PIGT | C3809369 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 | 1 | GENOMICS_ENGLAND |
Tgene | | C2700425 | EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0345967 | Malignant mesothelioma | 1 | CTD_human |