Fusion gene information | Fusion gene name: ATP8B3-TFAM |
Fusion gene ID: hg148229tg7019 | | Hgene | Tgene | Gene symbol | ATP8B3 | TFAM | Gene ID | 148229 | 7019 | Gene name | ATPase phospholipid transporting 8B3 | transcription factor A, mitochondrial |
Synonyms | ATPIK | MTDPS15|MTTF1|MTTFA|TCF6|TCF6L1|TCF6L2|TCF6L3 |
Cytomap | ('ATP8B3')('TFAM') 19p13.3 | 10q21.1 |
Type of gene | protein-coding | protein-coding |
Description | phospholipid-transporting ATPase IKATPase, aminophospholipid transporter, class I, type 8B, member 3ATPase, class I, type 8B, member 3aminophospholipid translocase ATP8B3potential phospholipid-transporting ATPase IKprobable phospholipid-transporting | transcription factor A, mitochondrialmitochondrial transcription factor 1mitochondrial transcription factor Atranscription factor 6transcription factor 6-like 1transcription factor 6-like 2 (mitochondrial transcription factor)transcription factor 6- |
Modification date | 20200313 | 20200329 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000310127, ENST00000525591, ENST00000526092, ENST00000539485,
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Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 2=8 |
# samples | 2 | 2 |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 |
Context | PubMed: ATP8B3 [Title/Abstract] AND TFAM [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ATP8B3(1782569)-TFAM(60145312), # 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 |
Tgene | | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Tgene | | C0006079 | Bowen's Disease | 1 | CTD_human |
Tgene | | C0011265 | Presenile dementia | 1 | CTD_human |
Tgene | | C0030569 | Secondary Parkinson Disease | 1 | CTD_human |
Tgene | | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Tgene | | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Tgene | | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Tgene | | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Tgene | | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Tgene | | C0751414 | Parkinson Disease, Secondary Vascular | 1 | CTD_human |
Tgene | | C0751415 | Atherosclerotic Parkinsonism | 1 | CTD_human |
Tgene | | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
Tgene | | C4310690 | MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |