Fusion gene information | Fusion gene name: EYS-ADI1 |
Fusion gene ID: hg346007tg55256 | | Hgene | Tgene | Gene symbol | EYS | ADI1 | Gene ID | 346007 | 55256 | Gene name | eyes shut homolog | acireductone dioxygenase 1 |
Synonyms | C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1 | APL1|ARD|Fe-ARD|HMFT1638|MTCBP1|Ni-ARD|SIPL|mtnD |
Cytomap | ('EYS')('ADI1') 6q12 | 2p25.3 |
Type of gene | protein-coding | protein-coding |
Description | protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog | 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenaseMT1-MMP cytoplasmic tail-binding protein-1acireductone dioxygenase (Fe(2+)-requiring)acireductone dioxygenase (Ni(2+)-requiring)membrane-type 1 matrix metalloproteinase cytoplasmic tail binding prote |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000342421, ENST00000370616, ENST00000370618, ENST00000370621, ENST00000393380, ENST00000486069, ENST00000503581, | |
Fusion gene scores | * DoF score | 11 X 11 X 4=484 | 6 X 7 X 3=126 |
# samples | 10 | 9 |
** MAII score | log2(10/484*10)=-2.27500704749987 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/126*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: EYS [Title/Abstract] AND ADI1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | EYS(66254910)-ADI1(3502228), # 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}. |