Fusion gene information | Fusion gene name: DYSF-PRKCSH |
Fusion gene ID: hg8291tg5589 | | Hgene | Tgene | Gene symbol | DYSF | PRKCSH | Gene ID | 8291 | 5589 | Gene name | dysferlin | protein kinase C substrate 80K-H |
Synonyms | FER1L1|LGMD2B|LGMDR2|MMD1 | AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60 |
Cytomap | ('DYSF')('PRKCSH') 2p13.2 | 19p13.2 |
Type of gene | protein-coding | protein-coding |
Description | dysferlindystrophy-associated fer-1-like 1fer-1-like family member 1fer-1-like protein 1limb girdle muscular dystrophy 2B (autosomal recessive) | glucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda protein |
Modification date | 20200328 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000258104, ENST00000394120, ENST00000409366, ENST00000409582, ENST00000409651, ENST00000409744, ENST00000409762, ENST00000410020, ENST00000410041, ENST00000413539, ENST00000429174, ENST00000479049,
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Fusion gene scores | * DoF score | 9 X 8 X 2=144 | 12 X 13 X 7=1092 |
# samples | 9 | 15 |
** MAII score | log2(9/144*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1092*10)=-2.86393845042397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: DYSF [Title/Abstract] AND PRKCSH [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | DYSF(71913708)-PRKCSH(11558280), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
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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 | DYSF | C4551973 | Miyoshi Muscular Dystrophy 1 | 19 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | DYSF | C1850889 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | 17 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | DYSF | C1847532 | MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | DYSF | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | DYSF | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
Hgene | DYSF | C1850808 | Miyoshi myopathy | 1 | ORPHANET |
Hgene | DYSF | C3495559 | Juvenile arthritis | 1 | CTD_human |
Hgene | DYSF | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
Hgene | DYSF | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
Hgene | DYSF | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
Tgene | | C0158683 | Polycystic liver disease | 3 | CTD_human;ORPHANET |
Tgene | | C0022680 | Polycystic Kidney Diseases | 1 | CTD_human |
Tgene | | C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | 1 | GENOMICS_ENGLAND |
Tgene | | C1567435 | Polycystic Kidney - body part | 1 | CTD_human |