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
ENST00000271843 [[153946744, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153950164]] [[153947154, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949728]]
ENST00000356648 [[153946987, 153947311], [153948301, 153948381], [153949168, 153949489], [153949645, 153949865], [153950019, 153950114]] [[153947154, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000368589 [[153946987, 153947311], [153948301, 153948381], [153949168, 153949489], [153949645, 153950136]] [[153947154, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000428469 [[153947157, 153947311], [153948301, 153948381], [153949168, 153949398], [153949814, 153949870]] [[153947157, 153947311], [153948301, 153948381], [153949168, 153949285]]
ENST00000461365 [[153948292, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949865], [153950019, 153950131]] None
ENST00000471173 [[153948314, 153948381], [153949168, 153949398], [153949645, 153950102]] None
NM_006694 [[153946744, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153950451]] [[153947154, 153947311], [153948301, 153948381], [153949168, 153949251], [153949451, 153949489], [153949645, 153949728]]
Promoter
Chrom Start End Description
chr1 153949751 153949822 CAGE_peak_5_at_JTB_5end
chr1 153950098 153950112 CAGE_peak_2_at_JTB_5end
chr1 153950116 153950158 CAGE_peak_1_at_JTB_5end
chr1 153950166 153950184 CAGE_peak_3_at_JTB_5end
chr1 153950432 153950487 CAGE_peak_4_at_JTB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 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 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 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}]