Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000424000 [[178977150, 178977573], [178980988, 178981111], [178982781, 178982908], [178985013, 178985136], [178985906, 178986086], [178988248, 178988639], [178988853, 178989017], [178990710, 178990911], [178994123, 178994383]] None
ENST00000286070 [[178977181, 178977573], [178980988, 178981111], [178982781, 178982908], [178985013, 178985136], [178985906, 178986086], [178988248, 178988378], [178988554, 178988639], [178988853, 178989017], [178990710, 178990911], [178994123, 178994383]] [[178977273, 178977573], [178980988, 178981111], [178982781, 178982908], [178985013, 178985136], [178985906, 178986086], [178988248, 178988378], [178988554, 178988639], [178988853, 178989017], [178990710, 178990903]]
ENST00000493048 [[178985730, 178986086], [178988248, 178988378], [178988554, 178988639], [178988853, 178989017]] None
ENST00000455903 [[178988589, 178988639], [178988853, 178989017], [178990710, 178990911], [179001189, 179003738]] [[178988589, 178988639], [178988853, 178989017], [178990710, 178990903]]
ENST00000424099 [[178990451, 178990478], [178990710, 178990911], [178994123, 178994383]] [[178990451, 178990478], [178990710, 178990903]]
ENST00000464647 [[178990865, 178990911], [178998587, 178998627], [179001189, 179001503]] None
NM_152945 [[178977150, 178977573], [178980988, 178981111], [178982781, 178982908], [178985013, 178985136], [178985906, 178986086], [178988248, 178988378], [178988554, 178988639], [178988853, 178989017], [178990710, 178990911], [178994123, 178994383]] [[178977273, 178977573], [178980988, 178981111], [178982781, 178982908], [178985013, 178985136], [178985906, 178986086], [178988248, 178988378], [178988554, 178988639], [178988853, 178989017], [178990710, 178990903]]
Promoter
Chrom Start End Description
chr2 178977110 178977130 CAGE_peak_3_at_RBM45_5end
chr2 178977143 178977211 CAGE_peak_1_at_RBM45_5end
chr2 178977212 178977230 CAGE_peak_2_at_RBM45_5end
chr2 178977400 178977403 CAGE_peak_4_at_RBM45_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I177391 177391796 177399036 2.38 [{'connected_gene': 'AGPS', 'score': 556.84}, {'connected_gene': 'HNRNPA3', 'score': 42.66}, {'connected_gene': 'RBM45', 'score': 15.02}, {'connected_gene': 'LOC100130691', 'score': 12.23}, {'connected_gene': 'ENSG00000238295', 'score': 11.45}, {'connected_gene': 'ENSG00000237178', 'score': 11.43}, {'connected_gene': 'DNAJC19P5', 'score': 10.1}, {'connected_gene': 'NFE2L2', 'score': 3.32}, {'connected_gene': 'GC02P177449', 'score': 0.23}, {'connected_gene': 'GC02M177355', 'score': 0.05}]
chr2 GH02I177997 177997398 177999164 0.2 [{'connected_gene': 'API5P2', 'score': 550.77}, {'connected_gene': 'PDE11A', 'score': 8.2}, {'connected_gene': 'OSBPL6', 'score': 5.54}, {'connected_gene': 'RBM45', 'score': 3.92}, {'connected_gene': 'GC02M177991', 'score': 0.44}, {'connected_gene': 'ENSG00000236664', 'score': 0.39}, {'connected_gene': 'ENSG00000284741', 'score': 0.14}]
chr2 GH02I178108 178108345 178108404 0.61 [{'connected_gene': 'PDE11A', 'score': 560.66}, {'connected_gene': 'ENSG00000284741', 'score': 550.77}, {'connected_gene': 'RBM45', 'score': 0.77}]
chr2 GH02I177164 177164173 177173131 2.27 [{'connected_gene': 'HNRNPA3', 'score': 51.13}, {'connected_gene': 'DNAJC19P5', 'score': 23.18}, {'connected_gene': 'RBM45', 'score': 15.02}, {'connected_gene': 'NFE2L2', 'score': 14.42}, {'connected_gene': 'ENSG00000222043', 'score': 11.56}, {'connected_gene': 'LOC105373760', 'score': 0.77}, {'connected_gene': 'ENSG00000236501', 'score': 0.77}, {'connected_gene': 'LOC391465', 'score': 0.44}, {'connected_gene': 'ENSG00000229337', 'score': 0.26}]
chr2 GH02I178111 178111794 178113802 2.11 [{'connected_gene': 'RBM45', 'score': 554.54}, {'connected_gene': 'HNRNPA3', 'score': 14.63}, {'connected_gene': 'GC02M178126', 'score': 0.39}]
chr2 GH02I177329 177329384 177330455 0.65 [{'connected_gene': 'RBM45', 'score': 18.8}, {'connected_gene': 'LOC100130691', 'score': 10.61}, {'connected_gene': 'GC02P177337', 'score': 0.44}, {'connected_gene': 'ENSG00000280374', 'score': 0.39}, {'connected_gene': 'NFE2L2', 'score': 0.21}]
chr2 GH02I178412 178412905 178415582 1.61 [{'connected_gene': 'LOC101927027', 'score': 565.27}, {'connected_gene': 'FKBP7', 'score': 31.99}, {'connected_gene': 'PLEKHA3', 'score': 23.9}, {'connected_gene': 'PJVK', 'score': 11.46}, {'connected_gene': 'PRKRA', 'score': 11.46}, {'connected_gene': 'RBM45', 'score': 9.97}]
chr2 GH02I178484 178484401 178485011 0.86 [{'connected_gene': 'LOC101927027', 'score': 68.07}, {'connected_gene': 'RBM45', 'score': 56.28}, {'connected_gene': 'NUDCP2', 'score': 33.44}, {'connected_gene': 'ENSG00000271401', 'score': 24.53}, {'connected_gene': 'PJVK', 'score': 23.32}, {'connected_gene': 'PLEKHA3', 'score': 22.56}, {'connected_gene': 'FKBP7', 'score': 16.84}, {'connected_gene': 'TTC30A', 'score': 13.44}, {'connected_gene': 'PRKRA', 'score': 11.68}, {'connected_gene': 'TTN-AS1', 'score': 0.28}]
chr2 GH02I177250 177250472 177257800 1.76 [{'connected_gene': 'MIR3128', 'score': 550.77}, {'connected_gene': 'HNRNPA3', 'score': 18.57}, {'connected_gene': 'RBM45', 'score': 15.02}, {'connected_gene': 'LOC100130691', 'score': 10.96}, {'connected_gene': 'NFE2L2', 'score': 6.15}, {'connected_gene': 'LOC105373754', 'score': 5.25}, {'connected_gene': 'DNAJC19P5', 'score': 0.34}]
chr2 GH02I177597 177597253 177600009 1.3 [{'connected_gene': 'GC02M177602', 'score': 550.77}, {'connected_gene': 'TTC30A', 'score': 12.12}, {'connected_gene': 'RBM45', 'score': 11.92}, {'connected_gene': 'TTC30B', 'score': 5.08}, {'connected_gene': 'AGPS', 'score': 4.88}, {'connected_gene': 'GC02M177479', 'score': 0.77}, {'connected_gene': 'GC02M177517', 'score': 0.44}, {'connected_gene': 'GC02M177488', 'score': 0.44}, {'connected_gene': 'GC02M177516', 'score': 0.44}, {'connected_gene': 'GC02M177513', 'score': 0.34}, {'connected_gene': 'GC02M177514', 'score': 0.34}, {'connected_gene': 'GC02M177512', 'score': 0.34}, {'connected_gene': 'GC02M177515', 'score': 0.28}, {'connected_gene': 'GC02M177569', 'score': 0.28}, {'connected_gene': 'GC02M177480', 'score': 0.18}, {'connected_gene': 'GC02M177505', 'score': 0.18}, {'connected_gene': 'GC02M177560', 'score': 0.18}, {'connected_gene': 'GC02M177545', 'score': 0.18}, {'connected_gene': 'GC02M177555', 'score': 0.18}, {'connected_gene': 'GC02M177563', 'score': 0.18}, {'connected_gene': 'GC02M177500', 'score': 0.18}, {'connected_gene': 'GC02M177540', 'score': 0.18}, {'connected_gene': 'GC02M177536', 'score': 0.18}, {'connected_gene': 'GC02M177557', 'score': 0.18}, {'connected_gene': 'GC02M177478', 'score': 0.18}, {'connected_gene': 'GC02M177546', 'score': 0.18}, {'connected_gene': 'GC02M177561', 'score': 0.18}, {'connected_gene': 'GC02M177489', 'score': 0.18}, {'connected_gene': 'GC02M177562', 'score': 0.18}, {'connected_gene': 'GC02M177490', 'score': 0.18}, {'connected_gene': 'GC02M177526', 'score': 0.18}, {'connected_gene': 'GC02M177531', 'score': 0.18}, {'connected_gene': 'GC02M177528', 'score': 0.18}, {'connected_gene': 'GC02M177491', 'score': 0.15}, {'connected_gene': 'GC02M177547', 'score': 0.15}, {'connected_gene': 'GC02M177482', 'score': 0.14}, {'connected_gene': 'GC02M177542', 'score': 0.14}, {'connected_gene': 'GC02M177508', 'score': 0.14}, {'connected_gene': 'GC02M177450', 'score': 0.12}, {'connected_gene': 'GC02M177549', 'score': 0.12}, {'connected_gene': 'GC02M177462', 'score': 0.12}, {'connected_gene': 'GC02M177534', 'score': 0.12}, {'connected_gene': 'GC02M177558', 'score': 0.12}, {'connected_gene': 'GC02M177492', 'score': 0.12}, {'connected_gene': 'GC02M177506', 'score': 0.12}, {'connected_gene': 'GC02M177470', 'score': 0.12}, {'connected_gene': 'GC02M177468', 'score': 0.12}, {'connected_gene': 'GC02M177463', 'score': 0.12}, {'connected_gene': 'GC02M177456', 'score': 0.12}, {'connected_gene': 'GC02M177507', 'score': 0.12}, {'connected_gene': 'GC02M177564', 'score': 0.12}, {'connected_gene': 'GC02M177484', 'score': 0.12}, {'connected_gene': 'GC02P177449', 'score': 0.11}, {'connected_gene': 'GC02M177565', 'score': 0.11}, {'connected_gene': 'GC02M177529', 'score': 0.11}, {'connected_gene': 'GC02M177497', 'score': 0.11}, {'connected_gene': 'GC02M177464', 'score': 0.11}, {'connected_gene': 'GC02M177556', 'score': 0.11}, {'connected_gene': 'GC02M177493', 'score': 0.11}, {'connected_gene': 'GC02M177503', 'score': 0.11}, {'connected_gene': 'GC02M177533', 'score': 0.11}, {'connected_gene': 'GC02M177553', 'score': 0.11}, {'connected_gene': 'GC02M177559', 'score': 0.11}, {'connected_gene': 'GC02M177554', 'score': 0.11}, {'connected_gene': 'GC02M177511', 'score': 0.1}, {'connected_gene': 'GC02M177510', 'score': 0.1}, {'connected_gene': 'GC02M177509', 'score': 0.1}, {'connected_gene': 'GC02M177483', 'score': 0.09}, {'connected_gene': 'GC02M177355', 'score': 0.08}, {'connected_gene': 'GC02M177538', 'score': 0.08}, {'connected_gene': 'GC02M177537', 'score': 0.08}, {'connected_gene': 'GC02M177532', 'score': 0.07}, {'connected_gene': 'GC02M177469', 'score': 0.07}, {'connected_gene': 'GC02M177455', 'score': 0.07}, {'connected_gene': 'GC02M177544', 'score': 0.07}, {'connected_gene': 'GC02M177543', 'score': 0.07}, {'connected_gene': 'GC02M177578', 'score': 0.06}, {'connected_gene': 'GC02M177458', 'score': 0.06}, {'connected_gene': 'GC02M177541', 'score': 0.06}, {'connected_gene': 'GC02M177460', 'score': 0.06}, {'connected_gene': 'GC02M177577', 'score': 0.06}, {'connected_gene': 'GC02M177504', 'score': 0.06}, {'connected_gene': 'GC02M177473', 'score': 0.06}, {'connected_gene': 'GC02M177582', 'score': 0.06}, {'connected_gene': 'GC02M177520', 'score': 0.06}, {'connected_gene': 'GC02M177575', 'score': 0.06}, {'connected_gene': 'GC02M177524', 'score': 0.06}, {'connected_gene': 'GC02M177599', 'score': 0.06}, {'connected_gene': 'GC02M177530', 'score': 0.06}, {'connected_gene': 'GC02M177594', 'score': 0.06}, {'connected_gene': 'GC02M177600', 'score': 0.06}, {'connected_gene': 'GC02M177572', 'score': 0.06}, {'connected_gene': 'GC02M177527', 'score': 0.06}, {'connected_gene': 'GC02M177581', 'score': 0.06}, {'connected_gene': 'GC02M177593', 'score': 0.06}, {'connected_gene': 'GC02M177485', 'score': 0.06}, {'connected_gene': 'GC02M177576', 'score': 0.06}, {'connected_gene': 'GC02M177592', 'score': 0.06}, {'connected_gene': 'GC02M177567', 'score': 0.06}, {'connected_gene': 'GC02M177585', 'score': 0.06}, {'connected_gene': 'GC02M177598', 'score': 0.06}, {'connected_gene': 'GC02M177523', 'score': 0.06}, {'connected_gene': 'GC02M177475', 'score': 0.06}, {'connected_gene': 'GC02M177461', 'score': 0.06}, {'connected_gene': 'GC02M177518', 'score': 0.06}, {'connected_gene': 'GC02M177583', 'score': 0.06}, {'connected_gene': 'GC02M177571', 'score': 0.06}, {'connected_gene': 'GC02M177574', 'score': 0.06}, {'connected_gene': 'GC02M177550', 'score': 0.06}, {'connected_gene': 'GC02M177595', 'score': 0.06}, {'connected_gene': 'GC02M177459', 'score': 0.06}, {'connected_gene': 'GC02M177521', 'score': 0.06}, {'connected_gene': 'GC02M177570', 'score': 0.06}, {'connected_gene': 'GC02M177587', 'score': 0.06}, {'connected_gene': 'GC02M177591', 'score': 0.06}, {'connected_gene': 'GC02M177573', 'score': 0.06}, {'connected_gene': 'GC02M177519', 'score': 0.06}, {'connected_gene': 'GC02M177596', 'score': 0.06}, {'connected_gene': 'GC02M177603', 'score': 0.06}, {'connected_gene': 'GC02M177457', 'score': 0.06}, {'connected_gene': 'GC02M177522', 'score': 0.06}, {'connected_gene': 'GC02M177474', 'score': 0.06}, {'connected_gene': 'GC02M177586', 'score': 0.06}, {'connected_gene': 'GC02M177584', 'score': 0.06}, {'connected_gene': 'GC02M177597', 'score': 0.06}, {'connected_gene': 'GC02M177498', 'score': 0.06}, {'connected_gene': 'GC02M177568', 'score': 0.06}, {'connected_gene': 'GC02M177579', 'score': 0.06}, {'connected_gene': 'GC02M177477', 'score': 0.06}, {'connected_gene': 'GC02M177566', 'score': 0.06}, {'connected_gene': 'GC02M177525', 'score': 0.06}, {'connected_gene': 'GC02M177486', 'score': 0.06}]
chr2 GH02I177260 177260929 177270972 2.63 [{'connected_gene': 'GC02P177265', 'score': 550.77}, {'connected_gene': 'ENSG00000222043', 'score': 550.77}, {'connected_gene': 'NFE2L2', 'score': 550.13}, {'connected_gene': 'HNRNPA3', 'score': 32.43}, {'connected_gene': 'RBM45', 'score': 29.88}, {'connected_gene': 'DNAJC19P5', 'score': 13.2}, {'connected_gene': 'LOC100130691', 'score': 10.59}, {'connected_gene': 'LOC105373754', 'score': 5.0}, {'connected_gene': 'ENSG00000271825', 'score': 0.29}]

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