Fusion gene information | Fusion gene name: AACS-FBN1 |
Fusion gene ID: hg65985tg2200 | | Hgene | Tgene | Gene symbol | AACS | FBN1 | Gene ID | 65985 | 2200 | Gene name | acetoacetyl-CoA synthetase | fibrillin 1 |
Synonyms | ACSF1|SUR-5 | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 |
Cytomap | ('AACS')('FBN1') 12q24.31 | 15q21.1 |
Type of gene | protein-coding | protein-coding |
Description | acetoacetyl-CoA synthetaseacetoacetate-CoA ligaseacyl-CoA synthetase family member 1homolog of C. elegans supressor of ras 5 (sur-5)protein sur-5 homolog | fibrillin-1asprosinepididymis secretory sperm binding proteinfibrillin 15fibrillin-1 preproprotein |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000261686, ENST00000316519, ENST00000316543, ENST00000398953, ENST00000543665, ENST00000545511,
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Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 13 X 15 X 3=585 |
# samples | 6 | 16 |
** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/585*10)=-1.8703647195834 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: AACS [Title/Abstract] AND FBN1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | AACS(125591570)-FBN1(48807741), # 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 |
Tgene | | C0024796 | Marfan Syndrome | 60 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C4310796 | MARFAN LIPODYSTROPHY SYNDROME | 12 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C3541518 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 9 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C4721845 | Marfan Syndrome, Type I | 7 | CTD_human;ORPHANET |
Tgene | | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 6 | CLINGEN;GENOMICS_ENGLAND |
Tgene | | C1321551 | Shprintzen-Goldberg syndrome | 5 | GENOMICS_ENGLAND;ORPHANET |
Tgene | | C1858556 | OVERLAP CONNECTIVE TISSUE DISEASE | 5 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C1869115 | Weill-Marchesani Syndrome, Autosomal Dominant | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0265287 | Acromicric Dysplasia | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C1861456 | Stiff Skin Syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C3280054 | GELEOPHYSIC DYSPLASIA 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0003496 | Aortic Rupture | 1 | CTD_human |
Tgene | | C0003706 | Arachnodactyly | 1 | CTD_human |
Tgene | | C0013581 | Ectopia Lentis | 1 | CTD_human;ORPHANET |
Tgene | | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | | C0020459 | Hyperinsulinism | 1 | CTD_human |
Tgene | | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Tgene | | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Tgene | | C0269102 | Endometrioma | 1 | CTD_human |
Tgene | | C0340630 | Aortic Aneurysm, Thoracoabdominal | 1 | CTD_human |
Tgene | | C0741160 | Aortic Aneurysm, Ruptured | 1 | CTD_human |
Tgene | | C1257963 | Endogenous Hyperinsulinism | 1 | CTD_human |
Tgene | | C1257964 | Exogenous Hyperinsulinism | 1 | CTD_human |
Tgene | | C1257965 | Compensatory Hyperinsulinemia | 1 | CTD_human |
Tgene | | C1855520 | Hyperglycemia, Postprandial | 1 | CTD_human |
Tgene | | C3489726 | Geleophysic dysplasia | 1 | CTD_human;ORPHANET |
Tgene | | C4016054 | Neonatal Marfan syndrome | 1 | ORPHANET |