Fusion gene information | Fusion gene name: CFH-COL12A1 |
Fusion gene ID: hg3075tg1303 | | Hgene | Tgene | Gene symbol | CFH | COL12A1 | Gene ID | 3075 | 1303 | Gene name | complement factor H | collagen type XII alpha 1 chain |
Synonyms | AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS | BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2 |
Cytomap | ('CFH')('COL12A1') 1q31.3 | 6q13-q14.1 |
Type of gene | protein-coding | protein-coding |
Description | complement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1 | collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1 |
Modification date | 20200327 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000359637, ENST00000367429, ENST00000439155, ENST00000496761,
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Fusion gene scores | * DoF score | 12 X 8 X 3=288 | 8 X 11 X 3=264 |
# samples | 12 | 11 |
** MAII score | log2(12/288*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: CFH [Title/Abstract] AND COL12A1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | CFH(196654356)-COL12A1(75794740), # samples:1
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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 | CFH | C2749604 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | 11 | GENOMICS_ENGLAND;UNIPROT |
Hgene | CFH | C0398777 | Complement Factor H Deficiency | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | CFH | C0242383 | Age related macular degeneration | 6 | CTD_human |
Hgene | CFH | C0268743 | Membranoproliferative Glomerulonephritis, Type II | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | CFH | C0162739 | HELLP Syndrome | 2 | ORPHANET |
Hgene | CFH | C0268742 | Membranoproliferative Glomerulonephritis, Type I | 2 | CTD_human;ORPHANET |
Hgene | CFH | C1720821 | Membranoproliferative Glomerulonephritis, Type III | 2 | CTD_human;ORPHANET |
Hgene | CFH | C2931788 | Atypical Hemolytic Uremic Syndrome | 2 | CTD_human |
Hgene | CFH | C0003257 | Antibody Deficiency Syndrome | 1 | CTD_human |
Hgene | CFH | C0017662 | Glomerulonephritis, Membranoproliferative | 1 | CTD_human |
Hgene | CFH | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | CFH | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
Hgene | CFH | C0025303 | Meningococcal Infections | 1 | CTD_human |
Hgene | CFH | C0272242 | Complement deficiency disease | 1 | GENOMICS_ENGLAND |
Hgene | CFH | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | CFH | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | CFH | C1832174 | DOYNE HONEYCOMB RETINAL DYSTROPHY | 1 | ORPHANET |
Hgene | CFH | C1852020 | Malattia Leventinese | 1 | ORPHANET |
Hgene | CFH | C1852021 | Drusen, Radial, Autosomal Dominant | 1 | ORPHANET |
Hgene | CFH | C1853147 | MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | CFH | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | CFH | C4087273 | C3 glomerulopathy | 1 | GENOMICS_ENGLAND |
Hgene | CFH | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | CFH | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
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 |