Fusion gene information | Fusion gene name: MALAT1-TPP1 |
Fusion gene ID: hg378938tg1200 | | Hgene | Tgene | Gene symbol | MALAT1 | TPP1 | Gene ID | 378938 | 1200 | Gene name | metastasis associated lung adenocarcinoma transcript 1 | tripeptidyl peptidase 1 |
Synonyms | HCN|LINC00047|NCRNA00047|NEAT2|PRO2853 | CLN2|GIG1|LPIC|SCAR7|TPP-1 |
Cytomap | ('MALAT1')('TPP1') 11q13.1 | 11p15.4 |
Type of gene | ncRNA | protein-coding |
Description | hepcarcinlong intergenic non-protein coding RNA 47metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)nuclear enriched abundant transcript 2nuclear paraspeckle assembly transcript 2 (non-protein coding) | tripeptidyl-peptidase 1cell growth-inhibiting gene 1 proteingrowth-inhibiting protein 1lysosomal pepstatin insensitive proteaselysosomal pepstatin-insensitive carboxypeptidasetripeptidyl aminopeptidasetripeptidyl peptidase I |
Modification date | 20200329 | 20200328 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000534336, | |
Fusion gene scores | * DoF score | 99 X 133 X 14=184338 | 7 X 7 X 1=49 |
# samples | 129 | 7 |
** MAII score | log2(129/184338*10)=-7.15883862732779 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/49*10)=0.514573172829758 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 |
Context | PubMed: MALAT1 [Title/Abstract] AND TPP1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | MALAT1(65266714)-TPP1(6640660), # 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 | MALAT1 | C0006142 | Malignant neoplasm of breast | 2 | CTD_human |
Hgene | MALAT1 | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
Hgene | MALAT1 | C0678222 | Breast Carcinoma | 2 | CTD_human |
Hgene | MALAT1 | C1257931 | Mammary Neoplasms, Human | 2 | CTD_human |
Hgene | MALAT1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
Hgene | MALAT1 | C4704874 | Mammary Carcinoma, Human | 2 | CTD_human |
Hgene | MALAT1 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | MALAT1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Hgene | MALAT1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | MALAT1 | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | MALAT1 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Hgene | MALAT1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | MALAT1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | MALAT1 | C0236663 | Alcohol withdrawal syndrome | 1 | PSYGENET |
Hgene | MALAT1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | MALAT1 | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
Hgene | MALAT1 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | MALAT1 | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Hgene | MALAT1 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | MALAT1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Hgene | MALAT1 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | MALAT1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | MALAT1 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | | C1876161 | CEROID LIPOFUSCINOSIS, NEURONAL, 2 | 16 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | 2 | CTD_human;GENOMICS_ENGLAND |
Tgene | | C0022797 | Adult Neuronal Ceroid Lipofuscinosis | 2 | CTD_human |
Tgene | | C0027877 | Neuronal Ceroid-Lipofuscinoses | 2 | CTD_human |
Tgene | | C0268281 | Infantile neuronal ceroid lipofuscinosis | 2 | CTD_human |
Tgene | | C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | 2 | CTD_human |
Tgene | | C1834207 | Ceroid Lipofuscinosis, Neuronal, Parry Type | 2 | CTD_human |
Tgene | | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Tgene | | C0004138 | Ataxias, Hereditary | 1 | GENOMICS_ENGLAND |
Tgene | | C0011265 | Presenile dementia | 1 | CTD_human |
Tgene | | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Tgene | | C0376358 | Malignant neoplasm of prostate | 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 | | C1836474 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |