Fusion gene information | Fusion gene name: DST-GLB1 |
Fusion gene ID: hg667tg2720 | | Hgene | Tgene | Gene symbol | DST | GLB1 | Gene ID | 667 | 2720 | Gene name | dystonin | galactosidase beta 1 |
Synonyms | BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2 | EBP|ELNR1|MPS4B |
Cytomap | ('DST')('GLB1') 6p12.1 | 3p22.3 |
Type of gene | protein-coding | protein-coding |
Description | dystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-beta | beta-galactosidaseacid beta-galactosidaseelastin binding proteinelastin receptor 1, 67kDalactase |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000244364, ENST00000312431, ENST00000340834, ENST00000361203, ENST00000370754, ENST00000370765, ENST00000370769, ENST00000370788, ENST00000421834, ENST00000446842, ENST00000518935, | |
Fusion gene scores | * DoF score | 28 X 24 X 12=8064 | 9 X 9 X 5=405 |
# samples | 27 | 9 |
** MAII score | log2(27/8064*10)=-4.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/405*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: DST [Title/Abstract] AND GLB1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | DST(56323843)-GLB1(33095013), # 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 | DST | C3809470 | EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 | 3 | GENOMICS_ENGLAND;ORPHANET |
Hgene | DST | C0079298 | Epidermolysis Bullosa Simplex | 2 | GENOMICS_ENGLAND |
Hgene | DST | C3539003 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0268271 | Gangliosidosis, Generalized GM1, Type 1 (disorder) | 21 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0268272 | Gangliosidosis, Generalized GM1, Type 2 | 14 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0268273 | Gangliosidosis, Generalized GM1, Type 3 | 13 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0086652 | Mucopolysaccharidosis type IVB | 12 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | | C0026707 | Mucopolysaccharidosis IV | 4 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0086651 | Mucopolysaccharidosis, MPS-IV-A | 2 | CTD_human |
Tgene | | C3179194 | GALNS Deficiency | 2 | CTD_human |
Tgene | | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Tgene | | C0010038 | Corneal Opacity | 1 | CTD_human |
Tgene | | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
Tgene | | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | | C0013366 | Dyschondroplasias | 1 | CTD_human |
Tgene | | C0025237 | Melnick-Needles Syndrome | 1 | CTD_human |
Tgene | | C0026760 | Multiple Epiphyseal Dysplasia | 1 | CTD_human |
Tgene | | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
Tgene | | C0036391 | Schwartz-Jampel Syndrome | 1 | CTD_human |
Tgene | | C0036572 | Seizures | 1 | GENOMICS_ENGLAND |
Tgene | | C0038015 | Spondyloepiphyseal Dysplasia | 1 | CTD_human |
Tgene | | C0086196 | Eczema, Infantile | 1 | CTD_human |
Tgene | | C0162351 | Contact hypersensitivity | 1 | CTD_human |
Tgene | | C0432272 | Van Buchem disease | 1 | CTD_human |
Tgene | | C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | 1 | CTD_human |
Tgene | | C4551479 | Schwartz-Jampel Syndrome, Type 1 | 1 | CTD_human |