Fusion gene information | Fusion gene name: USB1-ABCA3 |
Fusion gene ID: hg79650tg21 | | Hgene | Tgene | Gene symbol | USB1 | ABCA3 | Gene ID | 79650 | 21 | Gene name | U6 snRNA biogenesis phosphodiesterase 1 | ATP binding cassette subfamily A member 3 |
Synonyms | C16orf57|HVSL1|Mpn1|PN|hUsb1 | ABC-C|ABC3|EST111653|LBM180|SMDP3 |
Cytomap | ('USB1')('ABCA3') 16q21 | 16p13.3 |
Type of gene | protein-coding | protein-coding |
Description | U6 snRNA phosphodiesteraseHVSL motif containing 1U six biogenesis 1U6 snRNA biogenesis 1UPF0406 protein C16orf57mutated in poikiloderma with neutropenia protein 1putative U6 snRNA phosphodiesterase | ATP-binding cassette sub-family A member 3ABC transporter 3ABC-C transporterATP-binding cassette transporter 3ATP-binding cassette, sub-family A (ABC1), member 3 |
Modification date | 20200328 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000219281, ENST00000423271, ENST00000539737, ENST00000561743, ENST00000563149, ENST00000565662,
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Fusion gene scores | * DoF score | 6 X 6 X 5=180 | 6 X 7 X 4=168 |
# samples | 6 | 7 |
** MAII score | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: USB1 [Title/Abstract] AND ABCA3 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | USB1(58055306)-ABCA3(2340045), # 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 | USB1 | C0265965 | Dyskeratosis Congenita | 3 | GENOMICS_ENGLAND;ORPHANET |
Hgene | USB1 | C1858723 | Poikiloderma with Neutropenia | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | USB1 | C4049767 | Infusion pump Alert priority PN | 1 | GENOMICS_ENGLAND |
Tgene | | C1970456 | Surfactant Metabolism Dysfunction, Pulmonary, 3 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Tgene | | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | | C0013990 | Pathological accumulation of air in tissues | 1 | CTD_human |
Tgene | | C0020192 | Hyaline Membrane Disease | 1 | ORPHANET |
Tgene | | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Tgene | | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | | C0035220 | Respiratory Distress Syndrome, Newborn | 1 | ORPHANET |
Tgene | | C0085786 | Hamman-Rich syndrome | 1 | ORPHANET |
Tgene | | C0852283 | Respiratory Distress Syndrome | 1 | ORPHANET |
Tgene | | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | ORPHANET |
Tgene | | C1861829 | Cataract microcornea syndrome | 1 | GENOMICS_ENGLAND |
Tgene | | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |