Fusion gene information | Fusion gene name: BCL11B-HLA-C |
Fusion gene ID: hg64919tg3107 | | Hgene | Tgene | Gene symbol | BCL11B | HLA-C | Gene ID | 64919 | 3107 | Gene name | BAF chromatin remodeling complex subunit BCL11B | major histocompatibility complex, class I, C |
Synonyms | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IDDFSTA|IMD49|RIT1|ZNF856B|hRIT1-alpha | D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1 |
Cytomap | ('BCL11B')('HLA-C') 14q32.2 | 6p21.33 |
Type of gene | protein-coding | protein-coding |
Description | B-cell lymphoma/leukemia 11BB cell CLL/lymphoma 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B, BAF complex componentBCL11B/TRDC | HLA class I histocompatibility antigen, C alpha chainHLA-C alpha chainHLA-C antigenMHC class I antigen heavy chain HLA-Chuman leukocyte antigen-C alpha chainmajor histocompatibility antigen HLA-C |
Modification date | 20200313 | 20200327 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000345514, ENST00000357195, ENST00000443726, | ENST00000345514, ENST00000357195, ENST00000443726,
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Fusion gene scores | * DoF score | 6 X 8 X 2=96 | 7 X 7 X 2=98 |
# samples | 8 | 7 |
** MAII score | log2(8/96*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/98*10)=-0.485426827170242 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: BCL11B [Title/Abstract] AND HLA-C [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | BCL11B(99655805)-HLA-C(31239425), # 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 | BCL11B | C4310656 | IMMUNODEFICIENCY 49 | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BCL11B | C0024299 | Lymphoma | 1 | CTD_human |
Hgene | BCL11B | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
Hgene | BCL11B | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Hgene | BCL11B | C4748152 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | 1 | GENOMICS_ENGLAND |
Tgene | | C0030246 | Pustulosis of Palms and Soles | 2 | CTD_human |
Tgene | | C0033860 | Psoriasis | 2 | CTD_human |
Tgene | | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | | C0003872 | Arthritis, Psoriatic | 1 | CTD_human |
Tgene | | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Tgene | | C0013221 | Drug toxicity | 1 | CTD_human |
Tgene | | C0014518 | Toxic Epidermal Necrolysis | 1 | CTD_human |
Tgene | | C0017638 | Glioma | 1 | CTD_human |
Tgene | | C0038325 | Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | | C0041755 | Adverse reaction to drug | 1 | CTD_human |
Tgene | | C0259783 | mixed gliomas | 1 | CTD_human |
Tgene | | C0524909 | Hepatitis B, Chronic | 1 | CTD_human |
Tgene | | C0555198 | Malignant Glioma | 1 | CTD_human |
Tgene | | C1274933 | Drug-Induced Stevens Johnson Syndrome | 1 | CTD_human |
Tgene | | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Tgene | | C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | 1 | CTD_human |
Tgene | | C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | 1 | CTD_human |