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
ENST00000368655 [[153777200, 153782786], [153784206, 153784324], [153784497, 153784608], [153785725, 153785928], [153788748, 153789064], [153789847, 153790018], [153790515, 153790647], [153791266, 153791398], [153792081, 153792211], [153800488, 153800824], [153895208, 153895451]] [[153782652, 153782786], [153784206, 153784324], [153784497, 153784608], [153785725, 153785928], [153788748, 153789064], [153789847, 153790018], [153790515, 153790647], [153791266, 153791398], [153792081, 153792211]]
NM_020699 [[153777382, 153782786], [153784206, 153784324], [153784497, 153784608], [153785725, 153785928], [153788748, 153789064], [153789847, 153790018], [153790515, 153790647], [153791266, 153791398], [153792081, 153792211], [153800488, 153800824], [153895208, 153895451]] [[153782652, 153782786], [153784206, 153784324], [153784497, 153784608], [153785725, 153785928], [153788748, 153789064], [153789847, 153790018], [153790515, 153790647], [153791266, 153791398], [153792081, 153792211]]
Promoter
Chrom Start End Description
chr1 153895251 153895342 CAGE_peak_2_at_GATAD2B_5end
chr1 153895377 153895465 CAGE_peak_1_at_GATAD2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153905 153905401 153905601 0.31 [{'connected_gene': 'DENND4B', 'score': 11.5}, {'connected_gene': 'CRTC2', 'score': 10.73}, {'connected_gene': 'UBAP2L', 'score': 9.8}, {'connected_gene': 'SNORA58B', 'score': 9.8}, {'connected_gene': 'ENSG00000233222', 'score': 9.59}, {'connected_gene': 'ENSG00000243613', 'score': 9.59}, {'connected_gene': 'INTS3', 'score': 9.58}, {'connected_gene': 'ENSG00000236327', 'score': 0.39}, {'connected_gene': 'GATAD2B', 'score': 0.37}, {'connected_gene': 'LOC101928059', 'score': 0.37}]
chr1 GH01I153943 153943710 153948130 2.27 [{'connected_gene': 'DENND4B', 'score': 550.77}, {'connected_gene': 'CREB3L4', 'score': 16.75}, {'connected_gene': 'ILF2', 'score': 10.79}, {'connected_gene': 'CHTOP', 'score': 10.77}, {'connected_gene': 'CRTC2', 'score': 0.39}, {'connected_gene': 'GATAD2B', 'score': 0.34}]
chr1 GH01I153816 153816017 153816953 0.31 [{'connected_gene': 'DENND4B', 'score': 14.94}, {'connected_gene': 'CREB3L4', 'score': 11.55}, {'connected_gene': 'SLC39A1', 'score': 11.55}, {'connected_gene': 'JTB', 'score': 11.54}, {'connected_gene': 'GATAD2B', 'score': 11.44}, {'connected_gene': 'RAB13', 'score': 10.94}, {'connected_gene': 'RPL34P5', 'score': 10.94}, {'connected_gene': 'RPS27', 'score': 10.94}, {'connected_gene': 'CRTC2', 'score': 10.83}, {'connected_gene': 'NPR1', 'score': 10.01}, {'connected_gene': 'ENSG00000233222', 'score': 9.9}, {'connected_gene': 'ENSG00000243613', 'score': 9.89}, {'connected_gene': 'LOC105371448', 'score': 0.37}, {'connected_gene': 'PIR50903', 'score': 0.31}]
chr1 GH01I153797 153797305 153797494 0.77 [{'connected_gene': 'UBAP2L', 'score': 15.71}, {'connected_gene': 'ILF2', 'score': 11.63}, {'connected_gene': 'LOC343052', 'score': 0.77}, {'connected_gene': 'LOC105371448', 'score': 0.77}, {'connected_gene': 'GATAD2B', 'score': 0.13}]
chr1 GH01I153880 153880180 153882926 1.14 [{'connected_gene': 'UBAP2L', 'score': 29.28}, {'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'ENSG00000272654', 'score': 24.14}, {'connected_gene': 'INTS3', 'score': 23.63}, {'connected_gene': 'ATP8B2', 'score': 21.66}, {'connected_gene': 'GATAD2B', 'score': 11.25}, {'connected_gene': 'CRTC2', 'score': 11.24}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.87}, {'connected_gene': 'CHTOP', 'score': 9.99}, {'connected_gene': 'ENSG00000233222', 'score': 9.73}, {'connected_gene': 'ENSG00000243613', 'score': 9.72}, {'connected_gene': 'HAX1', 'score': 9.36}, {'connected_gene': 'SNORA58B', 'score': 9.31}, {'connected_gene': 'RAB13', 'score': 5.72}, {'connected_gene': 'ENSG00000236327', 'score': 0.44}, {'connected_gene': 'LOC645965', 'score': 0.31}]
chr1 GH01I153853 153853673 153855074 0.93 [{'connected_gene': 'LOC645965', 'score': 550.77}, {'connected_gene': 'ENSG00000223599', 'score': 550.77}, {'connected_gene': 'NUP210L', 'score': 15.51}, {'connected_gene': 'CREB3L4', 'score': 9.42}, {'connected_gene': 'ENSG00000236327', 'score': 0.28}, {'connected_gene': 'GATAD2B', 'score': 0.2}]
chr1 GH01I153821 153821445 153821554 0.64 [{'connected_gene': 'GATAD2B', 'score': 11.58}, {'connected_gene': 'DENND4B', 'score': 11.54}, {'connected_gene': 'CRTC2', 'score': 11.37}, {'connected_gene': 'RPS27', 'score': 11.28}, {'connected_gene': 'RAB13', 'score': 11.27}, {'connected_gene': 'RPL34P5', 'score': 11.27}, {'connected_gene': 'CREB3L4', 'score': 10.88}, {'connected_gene': 'SLC39A1', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.88}, {'connected_gene': 'UBAP2L', 'score': 9.81}, {'connected_gene': 'SNORA58B', 'score': 9.81}, {'connected_gene': 'ENSG00000233222', 'score': 9.54}, {'connected_gene': 'ENSG00000243613', 'score': 9.53}, {'connected_gene': 'INTS3', 'score': 9.5}, {'connected_gene': 'TPM3', 'score': 9.21}, {'connected_gene': 'MIR190B', 'score': 9.21}, {'connected_gene': 'PIR50903', 'score': 0.34}, {'connected_gene': 'LOC105371448', 'score': 0.34}]
chr1 GH01I154384 154384918 154387432 1.67 [{'connected_gene': 'ATP8B2', 'score': 17.19}, {'connected_gene': 'IL6R-AS1', 'score': 12.49}, {'connected_gene': 'RNU7-57P', 'score': 11.16}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.5}, {'connected_gene': 'UBE2Q1', 'score': 10.5}, {'connected_gene': 'SHE', 'score': 10.34}, {'connected_gene': 'TDRD10', 'score': 10.34}, {'connected_gene': 'C1orf189', 'score': 10.08}, {'connected_gene': 'SNAPIN', 'score': 4.37}, {'connected_gene': 'UBAP2L', 'score': 4.01}, {'connected_gene': 'CRTC2', 'score': 3.23}, {'connected_gene': 'GATAD2B', 'score': 2.35}, {'connected_gene': 'RPS27', 'score': 2.32}, {'connected_gene': 'DENND4B', 'score': 1.92}, {'connected_gene': 'ENSG00000237920', 'score': 0.44}, {'connected_gene': 'IL6R', 'score': 0.37}]
chr1 GH01I154417 154417745 154424412 1.77 [{'connected_gene': 'IL6R', 'score': 28.26}, {'connected_gene': 'TDRD10', 'score': 11.73}, {'connected_gene': 'FAM189B', 'score': 10.95}, {'connected_gene': 'ENSG00000272654', 'score': 10.43}, {'connected_gene': 'CRTC2', 'score': 6.79}, {'connected_gene': 'ADAR', 'score': 5.34}, {'connected_gene': 'UBAP2L', 'score': 5.19}, {'connected_gene': 'KRTCAP2', 'score': 4.92}, {'connected_gene': 'S100A1', 'score': 4.28}, {'connected_gene': 'GATAD2B', 'score': 2.77}, {'connected_gene': 'C1orf43', 'score': 2.57}, {'connected_gene': 'PSMD8P1', 'score': 0.44}, {'connected_gene': 'ENSG00000273110', 'score': 0.22}]
chr1 GH01I153793 153793385 153793534 0.31 [{'connected_gene': 'LOC343052', 'score': 550.77}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'GATAD2B', 'score': 0.13}]
chr1 GH01I153961 153961304 153965286 2.58 [{'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'MIR6737', 'score': 550.77}, {'connected_gene': 'ENSG00000282386', 'score': 550.77}, {'connected_gene': 'ILF2', 'score': 21.53}, {'connected_gene': 'CREB3L4', 'score': 15.32}, {'connected_gene': 'UBAP2L', 'score': 12.02}, {'connected_gene': 'RAB13', 'score': 11.96}, {'connected_gene': 'RPS27', 'score': 11.93}, {'connected_gene': 'RPL34P5', 'score': 11.91}, {'connected_gene': 'GATAD2B', 'score': 11.21}, {'connected_gene': 'HAX1', 'score': 8.42}, {'connected_gene': 'C1orf189', 'score': 8.26}, {'connected_gene': 'JTB', 'score': 1.66}, {'connected_gene': 'S100A16', 'score': 1.59}, {'connected_gene': 'SNAPIN', 'score': 1.5}]
chr1 GH01I153887 153887531 153888090 0.43 [{'connected_gene': 'CREB3L4', 'score': 26.79}, {'connected_gene': 'GATAD2B', 'score': 11.61}, {'connected_gene': 'SLC39A1', 'score': 11.02}, {'connected_gene': 'DENND4B', 'score': 10.95}, {'connected_gene': 'JTB', 'score': 10.79}, {'connected_gene': 'CRTC2', 'score': 10.5}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.22}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.19}, {'connected_gene': 'ENSG00000236327', 'score': 0.77}, {'connected_gene': 'LOC645965', 'score': 0.29}]
chr1 GH01I153803 153803402 153807440 1.23 [{'connected_gene': 'CREB3L4', 'score': 16.34}, {'connected_gene': 'GATAD2B', 'score': 11.15}, {'connected_gene': 'CRTC2', 'score': 11.06}, {'connected_gene': 'ENSG00000233222', 'score': 10.76}, {'connected_gene': 'ENSG00000243613', 'score': 10.76}, {'connected_gene': 'INTS3', 'score': 10.71}, {'connected_gene': 'NPR1', 'score': 9.83}, {'connected_gene': 'HAX1', 'score': 8.35}, {'connected_gene': 'S100A1', 'score': 7.17}, {'connected_gene': 'LOC105371448', 'score': 0.77}, {'connected_gene': 'PIR50903', 'score': 0.28}]
chr1 GH01I153931 153931922 153933026 0.31 [{'connected_gene': 'CREB3L4', 'score': 9.85}, {'connected_gene': 'GATAD2B', 'score': 0.44}, {'connected_gene': 'LOC101928059', 'score': 0.44}, {'connected_gene': 'DENND4B', 'score': 0.39}]
chr1 GH01I153925 153925641 153927061 0.43 [{'connected_gene': 'CREB3L4', 'score': 9.65}, {'connected_gene': 'GATAD2B', 'score': 0.77}, {'connected_gene': 'LOC101928059', 'score': 0.77}, {'connected_gene': 'DENND4B', 'score': 0.34}]
chr1 GH01I153928 153928228 153929488 0.86 [{'connected_gene': 'CREB3L4', 'score': 16.9}, {'connected_gene': 'GATAD2B', 'score': 0.44}, {'connected_gene': 'LOC101928059', 'score': 0.44}, {'connected_gene': 'DENND4B', 'score': 0.37}]
chr1 GH01I153848 153848638 153850527 0.92 [{'connected_gene': 'CREB3L4', 'score': 9.41}, {'connected_gene': 'ENSG00000223599', 'score': 0.77}, {'connected_gene': 'PIR50903', 'score': 0.44}, {'connected_gene': 'GATAD2B', 'score': 0.19}]
chr1 GH01I153789 153789280 153792599 1.58 [{'connected_gene': 'CREB3L4', 'score': 12.31}, {'connected_gene': 'IL6R', 'score': 4.23}, {'connected_gene': 'NPR1', 'score': 1.55}, {'connected_gene': 'LOC343052', 'score': 0.77}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'GATAD2B', 'score': 0.12}]
chr1 GH01I153975 153975790 153979168 2.04 [{'connected_gene': 'JTB', 'score': 550.77}, {'connected_gene': 'GC01P153977', 'score': 550.77}, {'connected_gene': 'ENSG00000272654', 'score': 550.77}, {'connected_gene': 'DENND4B', 'score': 15.58}, {'connected_gene': 'GATAD2B', 'score': 10.54}, {'connected_gene': 'CREB3L4', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'SLC39A1', 'score': 0.44}]
chr1 GH01I153942 153942393 153943546 0.46 [{'connected_gene': 'HAX1', 'score': 9.23}, {'connected_gene': 'DENND4B', 'score': 0.77}, {'connected_gene': 'GATAD2B', 'score': 0.37}]
chr1 GH01I153914 153914680 153915307 0.49 [{'connected_gene': 'HAX1', 'score': 8.87}, {'connected_gene': 'GATAD2B', 'score': 0.44}, {'connected_gene': 'LOC101928059', 'score': 0.44}, {'connected_gene': 'ENSG00000236327', 'score': 0.34}]
chr1 GH01I153919 153919070 153924514 2.09 [{'connected_gene': 'LOC101928059', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 48.74}, {'connected_gene': 'CRTC2', 'score': 39.29}, {'connected_gene': 'ILF2', 'score': 33.51}, {'connected_gene': 'INTS3', 'score': 30.58}, {'connected_gene': 'CHTOP', 'score': 25.95}, {'connected_gene': 'CREB3L4', 'score': 24.94}, {'connected_gene': 'SLC27A3', 'score': 22.6}, {'connected_gene': 'ENSG00000272654', 'score': 13.73}, {'connected_gene': 'DENND4B', 'score': 12.17}, {'connected_gene': 'RPS27', 'score': 11.88}, {'connected_gene': 'ENSG00000238279', 'score': 10.15}, {'connected_gene': 'ENSG00000233222', 'score': 9.62}, {'connected_gene': 'ENSG00000243613', 'score': 9.61}, {'connected_gene': 'HAX1', 'score': 9.08}, {'connected_gene': 'ENSG00000236327', 'score': 0.29}]
chr1 GH01I153779 153779273 153781350 0.65 [{'connected_gene': 'ENSG00000233222', 'score': 11.22}, {'connected_gene': 'ENSG00000243613', 'score': 11.22}, {'connected_gene': 'INTS3', 'score': 11.14}, {'connected_gene': 'NPR1', 'score': 11.07}, {'connected_gene': 'ILF2', 'score': 10.76}, {'connected_gene': 'RAB13', 'score': 10.53}, {'connected_gene': 'RPL34P5', 'score': 10.53}, {'connected_gene': 'GATAD2B', 'score': 10.53}, {'connected_gene': 'RPS27', 'score': 10.53}, {'connected_gene': 'HAX1', 'score': 6.63}, {'connected_gene': 'S100A16', 'score': 6.13}, {'connected_gene': 'ENSG00000273026', 'score': 6.0}, {'connected_gene': 'ENSG00000272030', 'score': 5.08}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'SLC27A3', 'score': 0.44}]
chr1 GH01I153888 153888093 153889186 0.74 [{'connected_gene': 'ENSG00000236327', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 11.63}, {'connected_gene': 'CREB3L4', 'score': 11.03}, {'connected_gene': 'SLC39A1', 'score': 11.03}, {'connected_gene': 'DENND4B', 'score': 10.97}, {'connected_gene': 'CRTC2', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.8}, {'connected_gene': 'RAB13', 'score': 10.57}, {'connected_gene': 'RPS27', 'score': 10.56}, {'connected_gene': 'RPL34P5', 'score': 10.56}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'NPR1', 'score': 9.82}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.21}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.25}, {'connected_gene': 'LOC645965', 'score': 0.28}]
chr1 GH01I153840 153840676 153841343 0.38 [{'connected_gene': 'PIR50903', 'score': 550.77}, {'connected_gene': 'CREB3L4', 'score': 16.18}, {'connected_gene': 'LOC105371448', 'score': 0.26}, {'connected_gene': 'GATAD2B', 'score': 0.18}]

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