{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001359"],"sample_count":["6"],"description":["EGA dataset EGAD00001001359"],"repository":["EGA"],"title":["The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer"],"pubmed_abstract":["Reactivation of telomerase reverse transcriptase (TERT) expression enables cells to overcome replicative senescence and escape apoptosis, which are fundamental steps in the initiation of human cancer. Multiple cancer types, including up to 83% of glioblastomas (GBMs), harbor highly recurrent TERT promoter mutations of unknown function but specific to two nucleotide positions. We identified the functional consequence of these mutations in GBMs to be recruitment of the multimeric GA-binding protein (GABP) transcription factor specifically to the mutant promoter. Allelic recruitment of GABP is consistently observed across four cancer types, highlighting a shared mechanism underlying TERT reactivation. Tandem flanking native E26 transformation-specific motifs critically cooperate with these mutations to activate TERT, probably by facilitating GABP heterotetramer binding. GABP thus directly links TERT promoter mutations to aberrant expression in multiple cancers."],"pubmed_title":["Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer."],"pubmed_authors":["Bell Robert J A RJ, Rube H Tomas HT, Kreig Alex A, Mancini Andrew A, Fouse Shaun D SD, Nagarajan Raman P RP, Choi Serah S, Hong Chibo C, He Daniel D, Pekmezci Melike M, Wiencke John K JK, Wrensch Margaret R MR, Chang Susan M SM, Walsh Kyle M KM, Myong Sua S, Song Jun S JS, Costello Joseph F JF"],"name_synonyms":["Data Set."],"description_synonyms":["glioblastoma multiforme, whole exome, grade IV adult astrocytic tumour, grade IV adult astrocytic tumor, Data Set, spongioblastoma multiforme, Exomes, GBM, RNA-seq, Cultured, Client, Cell, adult glioblastoma multiforme, 2610016K11Rik, G6S, N28088, Patient, Cultured Cell, grade IV adult Astrocytic tumor, primary glioblastoma multiforme, Clients, Cultured Cells, Whole Transcriptome Shotgun Sequencing, C87209, AU042285."],"pubmed_title_synonyms":["RNA polymerase II core promoter proximal region sequence-specific binding, T-cell leukemia, Malignant Neoplasm, Neoplasms, AGL4, Benign Neoplasm, zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, homeobox 1, Factor, TRT, SEPALLATA 2, Tumor, metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity, Malignant, Transcription Factor, hTRT, transcription factor activity, MT, Benign, zinc ion regulated core promoter proximal region sequence-specific DNA binding, EST2, RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity, hEST2, DKCB4, Neoplasm, RNA polymerase II transcription factor activity, sequence-specific distal enhancer binding RNA polymerase II transcription factor activity, TP2, metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, KNOTTED1-like homeobox gene 5, F14P3.4, Transcription, primary cancer, Factors, Malignancy, TCS1, DKCA2, F14P3_4, F10N7_150, Benign Neoplasms, Cancers, metal ion regulated core promoter proximal region sequence-specific binding, copper ion regulated core promoter proximal region sequence-specific binding, RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity, malignant tumor, Transcription factor, F10N7.150, Malignant Neoplasms, Neoplasias, CMM9, PFBMFT1, malignant neoplasm, RNA polymerase II proximal promoter sequence-specific DNA binding, copper ion regulated proximal promoter sequence-specific DNA binding, copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, AGAMOUS-like 4, Malignancies, zinc ion regulated proximal promoter sequence-specific DNA binding, sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity, metal ion regulated sequence-specific DNA binding, Neoplasia, metal ion regulated proximal promoter sequence-specific DNA binding, TRANSCRIPTION FACTOR, TR, Cancer, Tumors, RNA polymerase II distal enhancer sequence-specific binding, Malignant Neoplasms."],"pubmed_abstract_synonyms":["HERV-K(III) Pol protein, T-cell leukemia, AGL4, Cellular Aging, protein, Aging, Tumor, Astrocytomas, hTRT, Integrase, Mutations, Extrinsic Pathway Apoptoses, Telomerase Catalytic, RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity, hEST2, DKCB4, protein aggregate, HERV-K_19p13.11 provirus ancestral Pol protein, RT, Senescence, Man (Taxonomy), HERV-K_1q23.3 provirus ancestral Pol protein, Subunit, DKCA2, F10N7_150, Giant Cell Glioblastoma, RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity, Astrocytoma, Intrinsic Pathway Apoptosis, HERV-K_11q22.1 provirus ancestral Pol protein, Ageing, Replicative, malignant neoplasm, Classic, Telomerase Reverse Transcriptase Catalytic Subunit, Classical Apoptosis, AGAMOUS-like 4, Malignancies, zinc ion regulated proximal promoter sequence-specific DNA binding, sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity, RNA-Directed, Nucleotide, TRANSCRIPTION FACTOR, TR, Tumors, RNA polymerase II distal enhancer sequence-specific binding, RNA polymerase II core promoter proximal region sequence-specific binding, HERV-K_5q33.3 provirus ancestral Pol protein, Caspase-Dependent Apoptosis, Modern, Telomerase Reverse, Giant Cell, metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity, Telomerase, HERV-K107 Pol protein, signaling (initiator) caspase activity, Benign, induction of apoptosis, Intrinsic Pathway, HERV-K_19q11 provirus ancestral Pol protein, Extrinsic Pathway Apoptosis, Cellular, sequence-specific distal enhancer binding RNA polymerase II transcription factor activity, Caspase-Dependent, nucleotides, F14P3.4, Glioblastoma, Factors, HERV-K_3q27.2 provirus ancestral Pol protein, TCS1, HERV-K110 Pol protein, F14P3_4, initiation, Benign Neoplasms, Transcription factor, human, Malignant Neoplasms, Intrinsic Pathway Apoptoses, RNA Directed DNA Polymerase, Reverse transcriptase, induction of apoptosis by p53, Grade IV Astrocytomas, HERV-K(C19) Pol protein, RNA Directed, RNA-Dependent, copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, Extrinsic Pathway, HERV-K_8p23.1 provirus ancestral Pol protein, HERV-K(HML-2.HOM) Pol protein, Classical, metal ion regulated sequence-specific DNA binding, Apoptoses, metal ion regulated proximal promoter sequence-specific DNA binding, HERV-K_1q22 provirus ancestral Pol protein, atypia, HERV-K10 Pol protein, human being, Ribonuclease H, Cell Aging, Neoplasms, caspase-dependent programmed cell death, Benign Neoplasm, Caspase Dependent Apoptosis, Gene, SEPALLATA 2, Grade IV, protein-containing complex, Malignant, Transcription Factor, Human, HERV-K115 Pol protein, IN, zinc ion regulated core promoter proximal region sequence-specific DNA binding, Homo sapiens, Deoxynucleotide-triphosphate:DNA deoxynucleotidyltransferase (RNA-directed), RNA Dependent DNA Polymerase, Gene Products, HERV-K18 Pol protein, atypical, TP2, Type I, aberrant., Giant Cell Glioblastomas, Man, Cell Ageing, Transcription, HERV-K(C1a) Pol protein, Malignancy, Replicative Senescence, ligand, Revertase, apoptosis activator activity, Cell Senescence, Neoplasias, Glioblastoma Multiforme, Reverse Transcriptase, Catalytic Subunit, CMM9, RNA polymerase II proximal promoter sequence-specific DNA binding, HERV-K_7p22.1 provirus ancestral Pol protein, Classic Apoptosis, Telomerase Catalytic Subunit, copper ion regulated proximal promoter sequence-specific DNA binding, Grade IV Astrocytoma, RNase H, Apoptosis, Cancer, Telomerase Reverse Transcriptase, Malignant Neoplasm, protein complex, Proteins, Cellular Ageing, zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, homeobox 1, TRT, function, Factor, defective, Cell, HERV-K102 Pol protein, transcription factor activity, HERV-K108 Pol protein, MT, native protein, EST2, Programmed Cell Death, Protein, Neoplasm, RNA polymerase II transcription factor activity, DNA Polymerase, 3.1.26.4, RNA-Dependent DNA Polymerase, metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, KNOTTED1-like homeobox gene 5, primary cancer, apoptosis, Glioblastomas, HERV-K(C7) Pol protein, Cancers, HERV-K113 Pol protein, metal ion regulated core promoter proximal region sequence-specific binding, copper ion regulated core promoter proximal region sequence-specific binding, malignant tumor, F10N7.150, Classic Apoptoses, Protein Gene Products, Gene Proteins, PFBMFT1, Transcriptase, Modern Man, commitment to apoptosis, 2.7.7.49, Neoplasia, RNA Transcriptase"],"additional_accession":[]},"is_claimable":false,"name":"J_Costello_20150506_dataset - samples","description":"Dataset contains Exome-seq and RNA-seq from 2 GBM patients, as well as RNA-seq from the derived cultured cells (GNS).","dates":{"updated":"2017-07-26 15:39:25"},"accession":"EGAD00001001359","cross_references":{"TAXONOMY":["9606"],"pubmed":["25977370"],"EGA":["EGAC00001000153","EGAS00001001242"]}}