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
ENST00000476258 [[73131342, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73149312, 73150338]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000405458 [[73131342, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73145185, 73145280], [73150436, 73150774]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000409753 [[73131342, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73150436, 73150778]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73150436, 73150492]]
ENST00000482348 [[73131380, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73148999, 73149388]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000304834 [[73131401, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73145185, 73145280], [73150436, 73150770]] [[73145201, 73145280], [73150436, 73150492]]
ENST00000356033 [[73131401, 73132345], [73143650, 73143748], [73144623, 73144766], [73150436, 73150770]] [[73132096, 73132345], [73143650, 73143748], [73144623, 73144766], [73150436, 73150492]]
ENST00000470924 [[73131980, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73149923, 73149961]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000481094 [[73132078, 73132345], [73142760, 73142875]] None
ENST00000481647 [[73132086, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73149864, 73149921]] [[73132196, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000392566 [[73132196, 73132347], [73138851, 73138868], [73143650, 73143748], [73144623, 73144766], [73150436, 73150607]] [[73132196, 73132347], [73138851, 73138868], [73143650, 73143748], [73144623, 73144684]]
ENST00000580380 [[73132242, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144766], [73164328, 73164376]] [[73132242, 73132345], [73142760, 73142779], [73143650, 73143748], [73144623, 73144684]]
ENST00000581874 [[73132295, 73132345], [73142760, 73142779], [73143614, 73143748], [73144623, 73144766], [73150436, 73150607]] [[73143632, 73143748], [73144623, 73144766], [73150436, 73150492]]
ENST00000584079 [[73143632, 73143748], [73144623, 73144766], [73145185, 73145280], [73164328, 73164356]] None
ENST00000465454 [[73143878, 73144073], [73144623, 73144766], [73150436, 73150607]] None
Promoter
Chrom Start End Description
chr17 73132045 73132059 CAGE_peak_3_at_HN1_5end
chr17 73149941 73149971 CAGE_peak_4_at_HN1_5end
chr17 73150599 73150616 CAGE_peak_1_at_HN1_5end
chr17 73150629 73150640 CAGE_peak_2_at_HN1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I075482 75482338 75484732 0.38 [{'connected_gene': 'TMEM94', 'score': 32.82}, {'connected_gene': 'CASKIN2', 'score': 11.79}, {'connected_gene': 'TSEN54', 'score': 11.79}, {'connected_gene': 'LLGL2', 'score': 11.49}, {'connected_gene': 'JPT1', 'score': 10.09}, {'connected_gene': 'NUP85', 'score': 6.84}, {'connected_gene': 'MIR6785', 'score': 0.37}]
chr17 GH17I075479 75479701 75482097 0.54 [{'connected_gene': 'TMEM94', 'score': 32.23}, {'connected_gene': 'TSEN54', 'score': 21.23}, {'connected_gene': 'CASKIN2', 'score': 11.79}, {'connected_gene': 'LLGL2', 'score': 11.49}, {'connected_gene': 'JPT1', 'score': 10.09}, {'connected_gene': 'NUP85', 'score': 6.6}, {'connected_gene': 'MIR6785', 'score': 0.37}]
chr17 GH17I075151 75151880 75156327 2.09 [{'connected_gene': 'NUP85', 'score': 49.39}, {'connected_gene': 'UNK', 'score': 39.0}, {'connected_gene': 'ENSG00000266980', 'score': 38.51}, {'connected_gene': 'GGA3', 'score': 36.34}, {'connected_gene': 'NT5C', 'score': 30.84}, {'connected_gene': 'SAP30BP', 'score': 20.1}, {'connected_gene': 'TRIM65', 'score': 13.61}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'MYO15B', 'score': 12.21}, {'connected_gene': 'ENSG00000267342', 'score': 12.08}, {'connected_gene': 'CDK3', 'score': 11.53}, {'connected_gene': 'NAT9', 'score': 11.27}, {'connected_gene': 'SRP68', 'score': 10.46}, {'connected_gene': 'SLC25A19', 'score': 10.14}, {'connected_gene': 'MRPS7', 'score': 6.81}, {'connected_gene': 'MIF4GD', 'score': 4.65}, {'connected_gene': 'ENSG00000263786', 'score': 0.44}, {'connected_gene': 'JPT1', 'score': 0.39}, {'connected_gene': 'GC17M075166', 'score': 0.39}]
chr17 GH17I075171 75171906 75172175 0.72 [{'connected_gene': 'NUP85', 'score': 7.84}, {'connected_gene': 'JPT1', 'score': 0.77}, {'connected_gene': 'SUMO2', 'score': 0.39}]
chr17 GH17I075123 75123479 75126401 1.67 [{'connected_gene': 'NUP85', 'score': 15.42}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'NT5C', 'score': 11.68}, {'connected_gene': 'ATP5PD', 'score': 11.11}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.86}, {'connected_gene': 'MRPS7', 'score': 5.58}, {'connected_gene': 'TSEN54', 'score': 4.33}, {'connected_gene': 'SLC16A5', 'score': 1.72}, {'connected_gene': 'CD300LF', 'score': 1.51}, {'connected_gene': 'GRB2', 'score': 1.4}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ENSG00000279035', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.39}]
chr17 GH17I075113 75113646 75115294 1.66 [{'connected_gene': 'NUP85', 'score': 16.97}, {'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'ATP5PD', 'score': 11.28}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'SLC16A5', 'score': 7.89}, {'connected_gene': 'GC17P075119', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.77}, {'connected_gene': 'PIR52086', 'score': 0.77}]
chr17 GH17I075128 75128339 75129302 0.46 [{'connected_gene': 'NUP85', 'score': 16.08}, {'connected_gene': 'JPT1', 'score': 12.69}, {'connected_gene': 'ATP5PD', 'score': 11.1}, {'connected_gene': 'KCTD2', 'score': 11.08}, {'connected_gene': 'ENSG00000279035', 'score': 0.77}, {'connected_gene': 'PIR57447', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.37}]
chr17 GH17I075127 75127060 75127950 0.65 [{'connected_gene': 'NUP85', 'score': 16.35}, {'connected_gene': 'JPT1', 'score': 12.68}, {'connected_gene': 'ATP5PD', 'score': 11.1}, {'connected_gene': 'KCTD2', 'score': 11.09}, {'connected_gene': 'MRPL58', 'score': 6.43}, {'connected_gene': 'ENSG00000279035', 'score': 0.77}, {'connected_gene': 'PIR57447', 'score': 0.44}, {'connected_gene': 'ARMC7', 'score': 0.37}]
chr17 GH17I075137 75137374 75137714 0.42 [{'connected_gene': 'NUP85', 'score': 15.02}, {'connected_gene': 'JPT1', 'score': 12.29}, {'connected_gene': 'ATP5PD', 'score': 10.5}, {'connected_gene': 'KCTD2', 'score': 10.49}, {'connected_gene': 'CDR2L', 'score': 9.56}, {'connected_gene': 'MRPL58', 'score': 4.76}, {'connected_gene': 'ENSG00000265800', 'score': 0.77}, {'connected_gene': 'NT5C', 'score': 0.44}]
chr17 GH17I075158 75158910 75160956 0.95 [{'connected_gene': 'NUP85', 'score': 15.77}, {'connected_gene': 'NT5C', 'score': 11.86}, {'connected_gene': 'JPT1', 'score': 0.44}, {'connected_gene': 'GC17M075166', 'score': 0.44}, {'connected_gene': 'ENSG00000263786', 'score': 0.39}]
chr17 GH17I075109 75109031 75111071 2.18 [{'connected_gene': 'ARMC7', 'score': 557.54}, {'connected_gene': 'H3F3B', 'score': 12.48}, {'connected_gene': 'JPT1', 'score': 12.42}, {'connected_gene': 'NUP85', 'score': 12.35}, {'connected_gene': 'UNK', 'score': 12.11}, {'connected_gene': 'GGA3', 'score': 11.6}, {'connected_gene': 'ATP5PD', 'score': 11.29}, {'connected_gene': 'KCTD2', 'score': 11.26}, {'connected_gene': 'NT5C', 'score': 11.05}, {'connected_gene': 'SAP30BP', 'score': 11.04}, {'connected_gene': 'GC17P075119', 'score': 0.44}, {'connected_gene': 'PIR52086', 'score': 0.44}]
chr17 GH17I075180 75180987 75184312 2.05 [{'connected_gene': 'SUMO2', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 42.51}, {'connected_gene': 'NT5C', 'score': 26.12}, {'connected_gene': 'GGA3', 'score': 18.19}, {'connected_gene': 'ATP5PD', 'score': 17.12}, {'connected_gene': 'ENSG00000266980', 'score': 14.68}, {'connected_gene': 'UNK', 'score': 11.9}, {'connected_gene': 'LOC101928343', 'score': 11.37}, {'connected_gene': 'MIF4GD', 'score': 11.02}, {'connected_gene': 'KCTD2', 'score': 10.91}, {'connected_gene': 'CDR2L', 'score': 10.53}, {'connected_gene': 'SLC16A5', 'score': 10.24}, {'connected_gene': 'JPT1', 'score': 0.39}]
chr17 GH17I075115 75115566 75115715 0.2 [{'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'NUP85', 'score': 12.36}, {'connected_gene': 'ATP5PD', 'score': 11.28}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'GC17P075119', 'score': 0.77}, {'connected_gene': 'PIR52086', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075073 75073403 75075019 0.96 [{'connected_gene': 'TRIM80P', 'score': 558.79}, {'connected_gene': 'KCTD2', 'score': 16.14}, {'connected_gene': 'ATP5PD', 'score': 11.86}, {'connected_gene': 'JPT1', 'score': 11.81}, {'connected_gene': 'TMEM94', 'score': 9.88}, {'connected_gene': 'CDR2L', 'score': 4.9}, {'connected_gene': 'MRPS7', 'score': 4.58}, {'connected_gene': 'PIR52580', 'score': 0.44}]
chr17 GH17I075077 75076200 75076400 0.4 [{'connected_gene': 'TRIM80P', 'score': 550.77}, {'connected_gene': 'ATP5PD', 'score': 11.86}, {'connected_gene': 'KCTD2', 'score': 11.81}, {'connected_gene': 'JPT1', 'score': 11.81}, {'connected_gene': 'TMEM94', 'score': 9.88}, {'connected_gene': 'SLC16A5', 'score': 0.39}]
chr17 GH17I075072 75072126 75072275 0.88 [{'connected_gene': 'ATP5PD', 'score': 11.86}, {'connected_gene': 'KCTD2', 'score': 11.83}, {'connected_gene': 'JPT1', 'score': 11.8}, {'connected_gene': 'TMEM94', 'score': 9.88}, {'connected_gene': 'TRIM80P', 'score': 0.77}, {'connected_gene': 'PIR52580', 'score': 0.77}]
chr17 GH17I075140 75140598 75141475 0.46 [{'connected_gene': 'ENSG00000265800', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 15.74}, {'connected_gene': 'JPT1', 'score': 14.14}, {'connected_gene': 'ATP5PD', 'score': 11.05}, {'connected_gene': 'KCTD2', 'score': 11.03}, {'connected_gene': 'TMEM94', 'score': 9.31}, {'connected_gene': 'NT5C', 'score': 0.44}]
chr17 GH17I075116 75116785 75117775 0.56 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NUP85', 'score': 20.67}, {'connected_gene': 'JPT1', 'score': 12.43}, {'connected_gene': 'ATP5PD', 'score': 11.27}, {'connected_gene': 'KCTD2', 'score': 11.25}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075065 75065601 75066200 0.77 [{'connected_gene': 'PIR55784', 'score': 550.77}, {'connected_gene': 'PIR33113', 'score': 550.77}, {'connected_gene': 'PIR43359', 'score': 550.77}, {'connected_gene': 'GC17P075067', 'score': 550.77}, {'connected_gene': 'GC17P075115', 'score': 550.77}, {'connected_gene': 'JPT1', 'score': 12.32}, {'connected_gene': 'NT5C', 'score': 11.72}, {'connected_gene': 'RNU6-362P', 'score': 11.67}, {'connected_gene': 'ATP5PD', 'score': 6.15}, {'connected_gene': 'PIR52580', 'score': 0.77}, {'connected_gene': 'KCTD2', 'score': 0.29}]
chr17 GH17I075147 75147032 75149367 1.02 [{'connected_gene': 'ENSG00000263786', 'score': 550.77}, {'connected_gene': 'JPT1', 'score': 14.17}, {'connected_gene': 'ATP5PD', 'score': 11.04}, {'connected_gene': 'KCTD2', 'score': 11.02}, {'connected_gene': 'TMEM94', 'score': 9.32}, {'connected_gene': 'GC17M075166', 'score': 0.37}]
chr17 GH17I075069 75069801 75070200 0.57 [{'connected_gene': 'PIR52580', 'score': 550.77}, {'connected_gene': 'JPT1', 'score': 12.32}, {'connected_gene': 'ATP5PD', 'score': 11.89}, {'connected_gene': 'KCTD2', 'score': 11.83}, {'connected_gene': 'NT5C', 'score': 11.73}, {'connected_gene': 'RNU6-362P', 'score': 11.65}, {'connected_gene': 'TMEM94', 'score': 9.88}, {'connected_gene': 'TRIM80P', 'score': 0.77}]
chr17 GH17I075118 75118050 75119553 0.46 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 12.14}, {'connected_gene': 'JPT1', 'score': 11.97}, {'connected_gene': 'ATP5PD', 'score': 10.78}, {'connected_gene': 'KCTD2', 'score': 10.75}, {'connected_gene': 'MRPL58', 'score': 6.0}, {'connected_gene': 'LOC100287042', 'score': 4.62}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.44}]
chr17 GH17I075119 75119670 75120528 0.51 [{'connected_gene': 'GC17P075119', 'score': 550.77}, {'connected_gene': 'PIR52086', 'score': 550.77}, {'connected_gene': 'NT5C', 'score': 12.62}, {'connected_gene': 'JPT1', 'score': 11.97}, {'connected_gene': 'ATP5PD', 'score': 10.78}, {'connected_gene': 'KCTD2', 'score': 10.75}, {'connected_gene': 'LOC100287042', 'score': 4.36}, {'connected_gene': 'PIR57447', 'score': 0.77}, {'connected_gene': 'ARMC7', 'score': 0.39}]
chr17 GH17I075067 75067699 75068241 0.38 [{'connected_gene': 'PIR52580', 'score': 550.77}, {'connected_gene': 'ATP5PD', 'score': 13.59}, {'connected_gene': 'JPT1', 'score': 12.32}, {'connected_gene': 'NT5C', 'score': 11.73}, {'connected_gene': 'RNU6-362P', 'score': 11.65}, {'connected_gene': 'PIR43359', 'score': 0.77}]
chr17 GH17I075059 75059358 75061060 0.87 [{'connected_gene': 'ENSG00000270993', 'score': 550.77}, {'connected_gene': 'ATP5PD', 'score': 15.59}, {'connected_gene': 'JPT1', 'score': 11.74}, {'connected_gene': 'RNU6-362P', 'score': 11.6}, {'connected_gene': 'GC17P075050', 'score': 0.39}, {'connected_gene': 'PIR61802', 'score': 0.39}, {'connected_gene': 'KCTD2', 'score': 0.31}]

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