|
Fusion gene ID: 21593 |
FusionGeneSummary for MEF2C_MEF2C |
Fusion gene summary |
Fusion gene information | Fusion gene name: MEF2C_MEF2C | Fusion gene ID: 21593 | Hgene | Tgene | Gene symbol | MEF2C | MEF2C | Gene ID | 4208 | 4208 |
Gene name | myocyte enhancer factor 2C | myocyte enhancer factor 2C | |
Synonyms | C5DELq14.3|DEL5q14.3 | C5DELq14.3|DEL5q14.3 | |
Cytomap | 5q14.3 | 5q14.3 | |
Type of gene | protein-coding | protein-coding | |
Description | myocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C | myocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C | |
Modification date | 20180524 | 20180524 | |
UniProtAcc | Q06413 | Q06413 | |
Ensembl transtripts involved in fusion gene | ENST00000340208, ENST00000424173, ENST00000504921, ENST00000514028, ENST00000437473, ENST00000510942, ENST00000506554, ENST00000508569, ENST00000514015, ENST00000539796, ENST00000503554, | ENST00000340208, ENST00000424173, ENST00000504921, ENST00000514028, ENST00000437473, ENST00000510942, ENST00000506554, ENST00000508569, ENST00000514015, ENST00000539796, ENST00000503554, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 8 X 2=128 |
# samples | 1 | 8 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(8/128*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MEF2C [Title/Abstract] AND MEF2C [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MEF2C | GO:0000165 | MAPK cascade | 9858528 |
Hgene | MEF2C | GO:0006355 | regulation of transcription, DNA-templated | 24008018 |
Hgene | MEF2C | GO:0010628 | positive regulation of gene expression | 9857019|21556048 |
Hgene | MEF2C | GO:0030279 | negative regulation of ossification | 17696759 |
Hgene | MEF2C | GO:0045893 | positive regulation of transcription, DNA-templated | 17696759 |
Hgene | MEF2C | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8455629|15486975|16043483 |
Hgene | MEF2C | GO:0071374 | cellular response to parathyroid hormone stimulus | 17696759 |
Hgene | MEF2C | GO:0071560 | cellular response to transforming growth factor beta stimulus | 9770491 |
Hgene | MEF2C | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 9857019 |
Hgene | MEF2C | GO:2001016 | positive regulation of skeletal muscle cell differentiation | 21556048 |
Tgene | MEF2C | GO:0000165 | MAPK cascade | 9858528 |
Tgene | MEF2C | GO:0006355 | regulation of transcription, DNA-templated | 24008018 |
Tgene | MEF2C | GO:0010628 | positive regulation of gene expression | 9857019|21556048 |
Tgene | MEF2C | GO:0030279 | negative regulation of ossification | 17696759 |
Tgene | MEF2C | GO:0045893 | positive regulation of transcription, DNA-templated | 17696759 |
Tgene | MEF2C | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8455629|15486975|16043483 |
Tgene | MEF2C | GO:0071374 | cellular response to parathyroid hormone stimulus | 17696759 |
Tgene | MEF2C | GO:0071560 | cellular response to transforming growth factor beta stimulus | 9770491 |
Tgene | MEF2C | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 9857019 |
Tgene | MEF2C | GO:2001016 | positive regulation of skeletal muscle cell differentiation | 21556048 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | N87151 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000340208 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000340208 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000340208 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000340208 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000424173 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000424173 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000424173 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000504921 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000504921 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000504921 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514028 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000514028 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000514028 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000437473 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000437473 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000437473 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000510942 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000510942 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000510942 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000506554 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000506554 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000506554 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000508569 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000508569 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000508569 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000514015 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000514015 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000514015 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000539796 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000539796 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000539796 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000340208 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000424173 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000504921 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000514028 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000437473 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000510942 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000506554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000508569 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-5UTR | ENST00000503554 | ENST00000514015 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000503554 | ENST00000539796 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
intron-intron | ENST00000503554 | ENST00000503554 | MEF2C | chr5 | 88027614 | - | MEF2C | chr5 | 88119653 | - |
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FusionProtFeatures for MEF2C_MEF2C |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MEF2C | MEF2C |
Transcription activator which binds specifically to theMEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, andis also involved in vascular development. Plays an essential rolein hippocampal-dependent learning and memory by suppressing thenumber of excitatory synapses and thus regulating basal and evokedsynaptic transmission. Crucial for normal neuronal development,distribution, and electrical activity in the neocortex. Necessaryfor proper development of megakaryocytes and platelets and forbone marrow B-lymphopoiesis. Required for B-cell survival andproliferation in response to BCR stimulation, efficient IgG1antibody responses to T-cell-dependent antigens and for normalinduction of germinal center B-cells. May also be involved inneurogenesis and in the development of cortical architecture (Bysimilarity). Isoform 3 and isoform 4, which lack the repressordomain, are more active than isoform 1 and isoform 2.{ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443,ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463,ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290,ECO:0000269|PubMed:9384584}. | Transcription activator which binds specifically to theMEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, andis also involved in vascular development. Plays an essential rolein hippocampal-dependent learning and memory by suppressing thenumber of excitatory synapses and thus regulating basal and evokedsynaptic transmission. Crucial for normal neuronal development,distribution, and electrical activity in the neocortex. Necessaryfor proper development of megakaryocytes and platelets and forbone marrow B-lymphopoiesis. Required for B-cell survival andproliferation in response to BCR stimulation, efficient IgG1antibody responses to T-cell-dependent antigens and for normalinduction of germinal center B-cells. May also be involved inneurogenesis and in the development of cortical architecture (Bysimilarity). Isoform 3 and isoform 4, which lack the repressordomain, are more active than isoform 1 and isoform 2.{ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443,ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463,ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290,ECO:0000269|PubMed:9384584}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MEF2C_MEF2C |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MEF2C_MEF2C |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MEF2C_MEF2C |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MEF2C_MEF2C |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MEF2C | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | MEF2C | C0014544 | Epilepsy | 1 | CTD_human;HPO |
Hgene | MEF2C | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | MEF2C | C0038273 | Stereotypic Movement Disorder | 1 | CTD_human;HPO |
Hgene | MEF2C | C1510586 | Autism Spectrum Disorders | 1 | CTD_human;HPO |
Hgene | MEF2C | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | MEF2C | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | MEF2C | C0014544 | Epilepsy | 1 | CTD_human;HPO |
Tgene | MEF2C | C0038220 | Status Epilepticus | 1 | CTD_human |
Tgene | MEF2C | C0038273 | Stereotypic Movement Disorder | 1 | CTD_human;HPO |
Tgene | MEF2C | C1510586 | Autism Spectrum Disorders | 1 | CTD_human;HPO |
Tgene | MEF2C | C3714756 | Intellectual Disability | 1 | CTD_human |