Fusion gene information | Fusion gene name: LCP1-SACS |
Fusion gene ID: hg3936tg26278 | | Hgene | Tgene | Gene symbol | LCP1 | SACS | Gene ID | 3936 | 26278 | Gene name | lymphocyte cytosolic protein 1 | sacsin molecular chaperone |
Synonyms | CP64|HEL-S-37|L-PLASTIN|LC64P|LPL|PLS2 | ARSACS|DNAJC29|PPP1R138|SPAX6 |
Cytomap | ('LCP1')('SACS') 13q14.13 | 13q12.12 |
Type of gene | protein-coding | protein-coding |
Description | plastin-2L-plastin (Lymphocyte cytosolic protein 1) (LCP-1) (LC64P)LCP-1Lymphocyte cytosolic protein-1 (plasmin)bA139H14.1 (lymphocyte cytosolic protein 1 (L-plastin))epididymis secretory protein Li 37 | sacsindnaJ homolog subfamily C member 29protein phosphatase 1, regulatory subunit 138spastic ataxia of Charlevoix-Saguenay (sacsin) |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000323076, ENST00000398576, ENST00000435666, ENST00000460190,
| ENST00000323076, ENST00000398576, ENST00000435666, ENST00000460190,
|
Fusion gene scores | * DoF score | 10 X 10 X 4=400 | 18 X 11 X 1=198 |
# samples | 10 | 19 |
** MAII score | log2(10/400*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/198*10)=-0.0595010117486618 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: LCP1 [Title/Abstract] AND SACS [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | LCP1(46700058)-SACS(23983514), # samples:1
|
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 | LCP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | LCP1 | C0028043 | Nicotine Dependence | 1 | CTD_human |
Hgene | LCP1 | C0040332 | Tobacco Dependence | 1 | CTD_human |
Hgene | LCP1 | C0376384 | Nicotine Use Disorder | 1 | CTD_human |
Tgene | | C1849140 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE | 15 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0751776 | Atypical Inclusion-Body Disease | 1 | CTD_human |
Tgene | | C0751777 | Familial Progressive Myoclonic Epilepsy | 1 | CTD_human |
Tgene | | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human |
Tgene | | C0751779 | Action Myoclonus-Renal Failure Syndrome | 1 | CTD_human |
Tgene | | C0751780 | Biotin-Responsive Encephalopathy | 1 | CTD_human |
Tgene | | C0751781 | Dentatorubral-Pallidoluysian Atrophy | 1 | CTD_human |
Tgene | | C0751782 | May-White Syndrome | 1 | CTD_human |
Tgene | | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |