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
ENST00000367976 [[132269315, 132270700], [132271088, 132271300], [132271431, 132271683], [132271909, 132272132], [132272246, 132272513]] [[132270403, 132270700], [132271088, 132271300], [132271431, 132271683], [132271909, 132272132], [132272246, 132272312]]
NM_001901 [[132269315, 132270700], [132271088, 132271300], [132271431, 132271683], [132271909, 132272132], [132272246, 132272518]] [[132270403, 132270700], [132271088, 132271300], [132271431, 132271683], [132271909, 132272132], [132272246, 132272312]]
Promoter
Chrom Start End Description
chr6 132269835 132269894 CAGE_peak_7_at_CTGF_5end
chr6 132269901 132269911 CAGE_peak_30_at_CTGF_5end
chr6 132269939 132269966 CAGE_peak_12_at_CTGF_5end
chr6 132270012 132270022 CAGE_peak_22_at_CTGF_5end
chr6 132270118 132270130 CAGE_peak_13_at_CTGF_5end
chr6 132270198 132270215 CAGE_peak_18_at_CTGF_5end
chr6 132270228 132270243 CAGE_peak_17_at_CTGF_5end
chr6 132270276 132270290 CAGE_peak_10_at_CTGF_5end
chr6 132270471 132270530 CAGE_peak_5_at_CTGF_5end
chr6 132270532 132270550 CAGE_peak_9_at_CTGF_5end
chr6 132270563 132270604 CAGE_peak_3_at_CTGF_5end
chr6 132270672 132270706 CAGE_peak_8_at_CTGF_5end
chr6 132270719 132270731 CAGE_peak_4_at_CTGF_5end
chr6 132271902 132271913 CAGE_peak_26_at_CTGF_5end
chr6 132271932 132271967 CAGE_peak_6_at_CTGF_5end
chr6 132271980 132271991 CAGE_peak_16_at_CTGF_5end
chr6 132271998 132272086 CAGE_peak_2_at_CTGF_5end
chr6 132272504 132272519 CAGE_peak_1_at_CTGF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I132146 132146817 132148759 1.06 [{'connected_gene': 'CTGF', 'score': 3.83}, {'connected_gene': 'TAAR2', 'score': 2.58}, {'connected_gene': 'LINC01013', 'score': 0.37}, {'connected_gene': 'EEF1A1P36', 'score': 0.13}, {'connected_gene': 'GC06M132077', 'score': 0.11}]
chr6 GH06I131995 131995594 131996587 0.69 [{'connected_gene': 'LINC01013', 'score': 5.45}, {'connected_gene': 'CTGF', 'score': 0.26}, {'connected_gene': 'ENSG00000227220', 'score': 0.25}, {'connected_gene': 'GC06P132061', 'score': 0.2}]
chr6 GH06I131979 131979491 131983875 1.16 [{'connected_gene': 'LINC01013', 'score': 8.44}, {'connected_gene': 'ENSG00000227220', 'score': 0.29}, {'connected_gene': 'CTGF', 'score': 0.29}, {'connected_gene': 'GC06P132061', 'score': 0.18}]
chr6 GH06I131997 131997196 131998557 0.6 [{'connected_gene': 'LINC01013', 'score': 8.77}, {'connected_gene': 'ENSG00000227220', 'score': 0.25}, {'connected_gene': 'CTGF', 'score': 0.25}, {'connected_gene': 'GC06P132061', 'score': 0.21}]
chr6 GH06I132053 132053065 132055141 0.43 [{'connected_gene': 'LINC01013', 'score': 5.93}, {'connected_gene': 'GC06P132061', 'score': 0.44}, {'connected_gene': 'ENSG00000227220', 'score': 0.15}, {'connected_gene': 'CTGF', 'score': 0.15}]
chr6 GH06I131958 131958535 131959635 0.93 [{'connected_gene': 'LINC01013', 'score': 8.42}, {'connected_gene': 'ENSG00000227220', 'score': 0.44}, {'connected_gene': 'CTGF', 'score': 0.44}, {'connected_gene': 'GC06P132061', 'score': 0.15}]
chr6 GH06I132059 132059657 132065229 1.23 [{'connected_gene': 'GC06P132061', 'score': 550.77}, {'connected_gene': 'AKAP7', 'score': 4.3}, {'connected_gene': 'CTGF', 'score': 1.66}, {'connected_gene': 'ENSG00000236166', 'score': 0.34}, {'connected_gene': 'ENSG00000227220', 'score': 0.14}]
chr6 GH06I131946 131946340 131956534 2.45 [{'connected_gene': 'ENSG00000227220', 'score': 550.77}, {'connected_gene': 'CTGF', 'score': 550.77}, {'connected_gene': 'LINC01013', 'score': 6.94}, {'connected_gene': 'GC06M131950', 'score': 0.77}, {'connected_gene': 'GC06P132061', 'score': 0.14}]
chr6 GH06I131976 131976581 131977288 0.89 [{'connected_gene': 'ENSG00000227220', 'score': 11.96}, {'connected_gene': 'CTGF', 'score': 11.96}, {'connected_gene': 'LINC01013', 'score': 8.4}, {'connected_gene': 'GC06P132061', 'score': 0.18}]
chr6 GH06I131960 131960441 131960570 0.46 [{'connected_gene': 'ENSG00000227220', 'score': 0.44}, {'connected_gene': 'CTGF', 'score': 0.44}, {'connected_gene': 'GC06P132061', 'score': 0.15}]
chr6 GH06I132007 132007542 132007690 0.56 [{'connected_gene': 'GC06P132061', 'score': 0.23}, {'connected_gene': 'ENSG00000227220', 'score': 0.22}, {'connected_gene': 'CTGF', 'score': 0.22}]
chr6 GH06I131996 131996961 131997019 0.31 [{'connected_gene': 'ENSG00000227220', 'score': 0.25}, {'connected_gene': 'CTGF', 'score': 0.25}, {'connected_gene': 'GC06P132061', 'score': 0.21}]
chr6 GH06I131966 131966581 131966730 0.65 [{'connected_gene': 'ENSG00000227220', 'score': 0.37}, {'connected_gene': 'CTGF', 'score': 0.37}, {'connected_gene': 'GC06P132061', 'score': 0.16}]
chr6 GH06I132020 132020168 132021058 0.69 [{'connected_gene': 'GC06P132061', 'score': 0.26}, {'connected_gene': 'ENSG00000227220', 'score': 0.2}, {'connected_gene': 'CTGF', 'score': 0.2}]