Fusion gene information | Fusion gene name: COL12A1-COL12A1 |
Fusion gene ID: hg1303tg1303 | | Hgene | Tgene | Gene symbol | COL12A1 | COL12A1 | Gene ID | 1303 | 1303 | Gene name | collagen type XII alpha 1 chain | collagen type XII alpha 1 chain |
Synonyms | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 |
Cytomap | ('COL12A1')('COL12A1') 6q13-q14.1 | 6q13-q14.1 |
Type of gene | protein-coding | protein-coding |
Description | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000322507, ENST00000345356, ENST00000416123, ENST00000483888, ENST00000511023, | ENST00000322507, ENST00000345356, ENST00000416123, ENST00000483888, ENST00000511023,
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Fusion gene scores | * DoF score | 6 X 9 X 4=216 | 8 X 11 X 3=264 |
# samples | 9 | 11 |
** MAII score | log2(9/216*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/264*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: COL12A1 [Title/Abstract] AND COL12A1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | COL12A1(75794208)-COL12A1(75794136), # samples:2
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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 |
Hgene | COL12A1 | C4225313 | BETHLEM MYOPATHY 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
Hgene | COL12A1 | C1834674 | BETHLEM MYOPATHY 1 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | COL12A1 | C4225314 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 | 2 | GENOMICS_ENGLAND |
Hgene | COL12A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL12A1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Hgene | COL12A1 | C0410179 | Ullrich congenital muscular dystrophy 1 | 1 | CTD_human;ORPHANET |
Hgene | COL12A1 | C3280240 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME | 1 | GENOMICS_ENGLAND |
Tgene | | C4225313 | BETHLEM MYOPATHY 2 | 3 | GENOMICS_ENGLAND;UNIPROT |
Tgene | | C1834674 | BETHLEM MYOPATHY 1 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C4225314 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 | 2 | GENOMICS_ENGLAND |
Tgene | | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | | C0410179 | Ullrich congenital muscular dystrophy 1 | 1 | CTD_human;ORPHANET |
Tgene | | C3280240 | MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME | 1 | GENOMICS_ENGLAND |