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
ENST00000524318 [[22016236, 22016594], [22016987, 22017368], [22019288, 22019383], [22020086, 22020245]] None
ENST00000318561 [[22019167, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021572], [22021778, 22021989]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021554]]
ENST00000521315 [[22019309, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021554]]
ENST00000437090 [[22019310, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021282, 22021589]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021282, 22021333]]
ENST00000520605 [[22019312, 22019383], [22020592, 22020715], [22020948, 22021059], [22021778, 22021992]] [[22019341, 22019383], [22020592, 22020715], [22020948, 22021059], [22021778, 22021970]]
ENST00000522109 [[22019317, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021521]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021077]]
ENST00000524255 [[22019319, 22019383], [22020592, 22020715], [22020948, 22021059], [22021395, 22021564], [22021778, 22021992]] [[22019341, 22019383], [22020592, 22020715], [22020948, 22021059], [22021395, 22021554]]
ENST00000523296 [[22019320, 22019383], [22020592, 22020715], [22020948, 22021059], [22021413, 22021511]] [[22019341, 22019383], [22020592, 22020715], [22020948, 22021059], [22021413, 22021511]]
ENST00000518615 [[22019321, 22019383], [22020086, 22020245], [22020592, 22020748]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020748]]
ENST00000522880 [[22014425, 22015188], [22016987, 22017224]] None
ENST00000524350 [[22016125, 22016338], [22016987, 22017312]] None
ENST00000522630 [[22020591, 22020715], [22020948, 22021052]] None
NM_001317779 [[22019183, 22019383], [22020592, 22020715], [22020948, 22021059], [22021395, 22021572], [22021778, 22021992]] [[22019341, 22019383], [22020592, 22020715], [22020948, 22021059], [22021395, 22021554]]
NM_001317780 [[22019183, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021564], [22021778, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021554]]
NM_001317778 [[22019183, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021572], [22021778, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021554]]
NM_001172357 [[22019183, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021413, 22021554]]
NM_001172410 [[22019183, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021564], [22021778, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021554]]
NM_003018 [[22019183, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021572], [22021778, 22021992]] [[22019341, 22019383], [22020086, 22020245], [22020592, 22020715], [22020948, 22021059], [22021395, 22021554]]
Promoter
Chrom Start End Description
chr8 22014894 22014897 CAGE_peak_3_at_SFTPC_5end
chr8 22019303 22019321 CAGE_peak_1_at_SFTPC_5end
chr8 22020085 22020093 CAGE_peak_12_at_SFTPC_5end
chr8 22020106 22020124 CAGE_peak_5_at_SFTPC_5end
chr8 22020164 22020173 CAGE_peak_10_at_SFTPC_5end
chr8 22020196 22020202 CAGE_peak_13_at_SFTPC_5end
chr8 22020611 22020624 CAGE_peak_4_at_SFTPC_5end
chr8 22020647 22020661 CAGE_peak_6_at_SFTPC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I022202 22202827 22206671 0.96 [{'connected_gene': 'PHYHIP', 'score': 11.62}, {'connected_gene': 'POLR3D', 'score': 11.57}, {'connected_gene': 'MIR320A', 'score': 11.57}, {'connected_gene': 'BMP1', 'score': 11.52}, {'connected_gene': 'SFTPC', 'score': 11.51}, {'connected_gene': 'LGI3', 'score': 10.76}, {'connected_gene': 'NPM2', 'score': 10.09}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022143 22143748 22143897 0.63 [{'connected_gene': 'REEP4', 'score': 550.77}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8 GH08I022146 22146242 22147501 0.69 [{'connected_gene': 'REEP4', 'score': 9.35}, {'connected_gene': 'SORBS3', 'score': 5.35}, {'connected_gene': 'LGI3', 'score': 0.39}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8 GH08I022376 22376844 22377533 0.31 [{'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'ENSG00000253616', 'score': 5.24}, {'connected_gene': 'GC08M022352', 'score': 0.77}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}]
chr8 GH08I022223 22223843 22225204 0.84 [{'connected_gene': 'BMP1', 'score': 10.97}, {'connected_gene': 'SFTPC', 'score': 10.95}, {'connected_gene': 'NPM2', 'score': 10.52}, {'connected_gene': 'ENSG00000251034', 'score': 9.47}, {'connected_gene': 'SORBS3', 'score': 9.47}, {'connected_gene': 'PIWIL2', 'score': 6.59}, {'connected_gene': 'PHYHIP', 'score': 6.4}, {'connected_gene': 'LOC105379319', 'score': 0.29}]
chr8 GH08I022164 22164364 22171141 2.39 [{'connected_gene': 'BMP1', 'score': 578.33}, {'connected_gene': 'ENSG00000177725', 'score': 550.77}, {'connected_gene': 'C8orf58', 'score': 15.25}, {'connected_gene': 'FAM160B2', 'score': 15.12}, {'connected_gene': 'ENSG00000253200', 'score': 14.99}, {'connected_gene': 'LOC107986927', 'score': 12.83}, {'connected_gene': 'SORBS3', 'score': 12.66}, {'connected_gene': 'REEP4', 'score': 11.42}, {'connected_gene': 'NPM2', 'score': 10.59}, {'connected_gene': 'POLR3D', 'score': 10.34}, {'connected_gene': 'LOC101929237', 'score': 8.98}, {'connected_gene': 'XPO7', 'score': 5.82}, {'connected_gene': 'SFTPC', 'score': 0.39}]
chr8 GH08I022161 22161749 22161808 0.7 [{'connected_gene': 'SFTPC', 'score': 550.77}, {'connected_gene': 'LGI3', 'score': 0.77}, {'connected_gene': 'BMP1', 'score': 0.77}]
chr8 GH08I022176 22176908 22177057 0.31 [{'connected_gene': 'SFTPC', 'score': 11.19}, {'connected_gene': 'NPM2', 'score': 10.37}, {'connected_gene': 'ENSG00000177725', 'score': 0.44}, {'connected_gene': 'BMP1', 'score': 0.39}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022377 22377715 22380933 0.49 [{'connected_gene': 'PIWIL2', 'score': 19.3}, {'connected_gene': 'POLR3D', 'score': 11.16}, {'connected_gene': 'MIR320A', 'score': 11.16}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'PPP3CC', 'score': 10.72}, {'connected_gene': 'LGI3', 'score': 10.26}, {'connected_gene': 'SFTPC', 'score': 10.26}, {'connected_gene': 'GC08M022352', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.39}, {'connected_gene': 'SLC39A14', 'score': 0.39}]
chr8 GH08I022214 22214816 22217221 0.6 [{'connected_gene': 'PIWIL2', 'score': 18.61}, {'connected_gene': 'POLR3D', 'score': 13.11}, {'connected_gene': 'MIR320A', 'score': 13.11}, {'connected_gene': 'SFTPC', 'score': 11.28}, {'connected_gene': 'LOC100507071', 'score': 11.16}, {'connected_gene': 'LGI3', 'score': 10.71}, {'connected_gene': 'PHYHIP', 'score': 0.37}, {'connected_gene': 'LOC105379319', 'score': 0.34}]
chr8 GH08I022182 22182688 22182837 0.31 [{'connected_gene': 'LGI3', 'score': 11.6}, {'connected_gene': 'SFTPC', 'score': 11.6}, {'connected_gene': 'FGF17', 'score': 10.24}, {'connected_gene': 'NPM2', 'score': 10.24}, {'connected_gene': 'LOC100507071', 'score': 10.15}, {'connected_gene': 'PIWIL2', 'score': 10.15}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'LOC105379319', 'score': 0.44}, {'connected_gene': 'ENSG00000177725', 'score': 0.39}, {'connected_gene': 'BMP1', 'score': 0.37}]
chr8 GH08I022155 22155643 22157200 1.59 [{'connected_gene': 'LGI3', 'score': 550.77}, {'connected_gene': 'SFTPC', 'score': 550.77}, {'connected_gene': 'REEP4', 'score': 0.39}]
chr8 GH08I022177 22177355 22180171 1 [{'connected_gene': 'LGI3', 'score': 11.31}, {'connected_gene': 'SFTPC', 'score': 11.31}, {'connected_gene': 'XPO7', 'score': 10.94}, {'connected_gene': 'NPM2', 'score': 10.37}, {'connected_gene': 'FGF17', 'score': 10.25}, {'connected_gene': 'LOC100507071', 'score': 10.14}, {'connected_gene': 'PIWIL2', 'score': 10.14}, {'connected_gene': 'CCAR2', 'score': 10.1}, {'connected_gene': 'BMP1', 'score': 8.89}, {'connected_gene': 'LOC101929237', 'score': 8.76}, {'connected_gene': 'ENSG00000177725', 'score': 0.44}, {'connected_gene': 'LOC105379319', 'score': 0.39}]
chr8 GH08I022373 22373434 22375435 0.52 [{'connected_gene': 'GC08M022352', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.96}, {'connected_gene': 'POLR3D', 'score': 11.17}, {'connected_gene': 'MIR320A', 'score': 11.17}, {'connected_gene': 'PHYHIP', 'score': 11.15}, {'connected_gene': 'LOC100507071', 'score': 10.82}, {'connected_gene': 'PIWIL2', 'score': 10.82}, {'connected_gene': 'RNU6-336P', 'score': 10.73}, {'connected_gene': 'LGI3', 'score': 10.27}, {'connected_gene': 'SFTPC', 'score': 10.27}, {'connected_gene': 'SLC39A14', 'score': 0.44}, {'connected_gene': 'RPL21P77', 'score': 0.37}]
chr8 GH08I021922 21922850 21922999 0.31 [{'connected_gene': 'GC08P021924', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.26}, {'connected_gene': 'FGF17', 'score': 11.24}, {'connected_gene': 'SFTPC', 'score': 9.93}, {'connected_gene': 'LGI3', 'score': 9.52}, {'connected_gene': 'XPO7', 'score': 0.77}]

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