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
ENST00000555997 [[69254376, 69257209], [69257699, 69257960]] [[69257204, 69257209], [69257699, 69257904]]
ENST00000439696 [[69254378, 69257209], [69259598, 69259957]] [[69256249, 69257209], [69259598, 69259655]]
ENST00000336440 [[69255321, 69255526], [69256243, 69257209], [69259598, 69261453]] [[69256249, 69257209], [69259598, 69259655]]
ENST00000557086 [[69256661, 69257209], [69262791, 69262970]] [[69256661, 69257209], [69262791, 69262866]]
ENST00000557022 [[69256671, 69257209], [69262759, 69262798]] [[69256671, 69257200]]
ENST00000553375 [[69256905, 69257209], [69259598, 69259787], [69262791, 69262931]] [[69256905, 69257209], [69259598, 69259787], [69262791, 69262866]]
ENST00000408913 [[69261463, 69263190]] [[69262510, 69263011]]
NM_004926 [[69254371, 69257209], [69259598, 69260631]] [[69256249, 69257209], [69259598, 69259655]]
NM_001244698 [[69254371, 69255526], [69256243, 69257209], [69259598, 69260631]] [[69256249, 69257209], [69259598, 69259655]]
NM_001244701 [[69254371, 69257209], [69259598, 69259787], [69262791, 69262960]] [[69256249, 69257209], [69259598, 69259787], [69262791, 69262866]]
Promoter
Chrom Start End Description
chr14 69259772 69259790 CAGE_peak_1_at_ZFP36L1_5end
chr14 69260117 69260141 CAGE_peak_4_at_ZFP36L1_5end
chr14 69260437 69260442 CAGE_peak_10_at_ZFP36L1_5end
chr14 69261085 69261095 CAGE_peak_15_at_ZFP36L1_5end
chr14 69261310 69261326 CAGE_peak_5_at_ZFP36L1_5end
chr14 69262789 69262822 CAGE_peak_2_at_ZFP36L1_5end
chr14 69262827 69262841 CAGE_peak_7_at_ZFP36L1_5end
chr14 69262916 69262929 CAGE_peak_11_at_ZFP36L1_5end
chr14 69262947 69262986 CAGE_peak_3_at_ZFP36L1_5end
chr14 69263043 69263069 CAGE_peak_8_at_ZFP36L1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I068752 68752246 68753248 0.31 [{'connected_gene': 'SUSD6', 'score': 4.96}, {'connected_gene': 'RNU6-921P', 'score': 0.37}, {'connected_gene': 'GC14M068736', 'score': 0.37}, {'connected_gene': 'ZFP36L1', 'score': 0.26}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068747 68747162 68750192 0.79 [{'connected_gene': 'SUSD6', 'score': 6.68}, {'connected_gene': 'RNU6-921P', 'score': 0.39}, {'connected_gene': 'GC14M068736', 'score': 0.39}, {'connected_gene': 'ZFP36L1', 'score': 0.25}, {'connected_gene': 'GC14M068442', 'score': 0.09}]
chr14 GH14I068753 68753745 68753893 0.2 [{'connected_gene': 'SUSD6', 'score': 5.61}, {'connected_gene': 'RNU6-921P', 'score': 0.37}, {'connected_gene': 'GC14M068736', 'score': 0.37}, {'connected_gene': 'ZFP36L1', 'score': 0.26}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068931 68931002 68953799 1.75 [{'connected_gene': 'ACTN1', 'score': 19.67}, {'connected_gene': 'ZFP36L1', 'score': 8.04}, {'connected_gene': 'DCAF5', 'score': 3.39}, {'connected_gene': 'GALNT16', 'score': 1.27}, {'connected_gene': 'BANF1P1', 'score': 0.44}, {'connected_gene': 'GC14P068937', 'score': 0.44}]
chr14 GH14I068927 68927249 68930799 1.3 [{'connected_gene': 'ACTN1', 'score': 7.02}, {'connected_gene': 'ZFP36L1', 'score': 6.98}, {'connected_gene': 'DCAF5', 'score': 4.09}, {'connected_gene': 'GC14M068442', 'score': 0.44}, {'connected_gene': 'BANF1P1', 'score': 0.44}]
chr14 GH14I069054 69054465 69058297 1.34 [{'connected_gene': 'ACTN1', 'score': 11.07}, {'connected_gene': 'EXD2', 'score': 10.05}, {'connected_gene': 'DCAF5', 'score': 1.92}, {'connected_gene': 'ZFP36L1', 'score': 1.78}, {'connected_gene': 'DDX18P1', 'score': 0.31}, {'connected_gene': 'RPS29P1', 'score': 0.29}]
chr14 GH14I068778 68778014 68798428 2.87 [{'connected_gene': 'ZFP36L1', 'score': 552.44}, {'connected_gene': 'DCAF5', 'score': 29.07}, {'connected_gene': 'ZFYVE26', 'score': 22.93}, {'connected_gene': 'SRSF5', 'score': 19.4}, {'connected_gene': 'SUSD6', 'score': 18.14}, {'connected_gene': 'DDX18P1', 'score': 12.61}, {'connected_gene': 'RNU6-921P', 'score': 11.8}, {'connected_gene': 'GC14M068736', 'score': 0.23}, {'connected_gene': 'GC14M068442', 'score': 0.12}]
chr14 GH14I068834 68834684 68835057 0.26 [{'connected_gene': 'ZFP36L1', 'score': 1.56}, {'connected_gene': 'DCAF5', 'score': 1.46}, {'connected_gene': 'GC14P068845', 'score': 0.39}, {'connected_gene': 'GC14M068442', 'score': 0.18}]
chr14 GH14I068818 68818299 68823313 1.62 [{'connected_gene': 'ZFP36L1', 'score': 12.85}, {'connected_gene': 'DCAF5', 'score': 4.17}, {'connected_gene': 'GC14P068845', 'score': 0.34}, {'connected_gene': 'GC14M068442', 'score': 0.15}]
chr14 GH14I068592 68592768 68601282 1.6 [{'connected_gene': 'ZFP36L1', 'score': 7.56}, {'connected_gene': 'GC14P068562', 'score': 0.29}, {'connected_gene': 'ENSG00000258623', 'score': 0.17}, {'connected_gene': 'GC14M068442', 'score': 0.05}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14 GH14I068574 68574757 68581589 1.57 [{'connected_gene': 'ZFP36L1', 'score': 4.39}, {'connected_gene': 'GC14P068562', 'score': 0.37}, {'connected_gene': 'ENSG00000258623', 'score': 0.14}, {'connected_gene': 'GC14M068442', 'score': 0.05}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14 GH14I068237 68237918 68253208 1.54 [{'connected_gene': 'ZFP36L1', 'score': 12.18}, {'connected_gene': 'RN7SL108P', 'score': 0.44}, {'connected_gene': 'GC14P068302', 'score': 0.22}, {'connected_gene': 'RAD51B', 'score': 0.04}]
chr14 GH14I068766 68766603 68767351 0.38 [{'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'RNU6-921P', 'score': 0.29}, {'connected_gene': 'GC14M068736', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068768 68768448 68768598 0.33 [{'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'RNU6-921P', 'score': 0.29}, {'connected_gene': 'GC14M068736', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068388 68388608 68398983 1.48 [{'connected_gene': 'ZFP36L1', 'score': 1.52}, {'connected_gene': 'LOC101927971', 'score': 0.39}, {'connected_gene': 'GC14P068364', 'score': 0.31}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14 GH14I068798 68798531 68799324 0.31 [{'connected_gene': 'ZFP36L1', 'score': 0.77}, {'connected_gene': 'GC14P068845', 'score': 0.25}, {'connected_gene': 'GC14M068442', 'score': 0.13}]
chr14 GH14I068804 68804475 68810893 1.18 [{'connected_gene': 'ZFP36L1', 'score': 0.39}, {'connected_gene': 'GC14P068845', 'score': 0.28}, {'connected_gene': 'GC14M068442', 'score': 0.14}]
chr14 GH14I068800 68800383 68801213 0.79 [{'connected_gene': 'ZFP36L1', 'score': 0.77}, {'connected_gene': 'GC14P068845', 'score': 0.25}, {'connected_gene': 'GC14M068442', 'score': 0.13}]
chr14 GH14I068811 68811183 68817978 1.74 [{'connected_gene': 'SRSF5', 'score': 10.0}, {'connected_gene': 'DCAF5', 'score': 1.94}, {'connected_gene': 'ZFP36L1', 'score': 0.37}, {'connected_gene': 'GC14P068845', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.14}]
chr14 GH14I068824 68824316 68825277 1.42 [{'connected_gene': 'SRSF5', 'score': 19.68}, {'connected_gene': 'ERH', 'score': 9.68}, {'connected_gene': 'GC14P068845', 'score': 0.34}, {'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'GC14M068442', 'score': 0.16}]
chr14 GH14I068755 68755977 68761156 1.55 [{'connected_gene': 'RNU6-921P', 'score': 12.3}, {'connected_gene': 'ZFP36L1', 'score': 2.17}, {'connected_gene': 'DCAF5', 'score': 1.27}, {'connected_gene': 'GC14M068736', 'score': 0.34}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068771 68771332 68773534 1.15 [{'connected_gene': 'RNU6-921P', 'score': 11.85}, {'connected_gene': 'ZFP36L1', 'score': 0.34}, {'connected_gene': 'GC14M068736', 'score': 0.28}, {'connected_gene': 'GC14M068442', 'score': 0.11}]
chr14 GH14I068774 68774084 68776295 1.38 [{'connected_gene': 'RNU6-921P', 'score': 11.85}, {'connected_gene': 'ZFP36L1', 'score': 0.34}, {'connected_gene': 'GC14M068736', 'score': 0.28}, {'connected_gene': 'GC14M068442', 'score': 0.11}]
chr14 GH14I068754 68754115 68754973 0.75 [{'connected_gene': 'RNU6-921P', 'score': 0.37}, {'connected_gene': 'GC14M068736', 'score': 0.37}, {'connected_gene': 'ZFP36L1', 'score': 0.26}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068762 68762336 68764103 1.33 [{'connected_gene': 'RNU6-921P', 'score': 11.05}, {'connected_gene': 'GC14M068736', 'score': 0.31}, {'connected_gene': 'ZFP36L1', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068741 68741284 68741433 0.56 [{'connected_gene': 'RNU6-921P', 'score': 0.44}, {'connected_gene': 'GC14M068736', 'score': 0.44}, {'connected_gene': 'ZFP36L1', 'score': 0.23}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068764 68764715 68765066 0.31 [{'connected_gene': 'RNU6-921P', 'score': 0.31}, {'connected_gene': 'GC14M068736', 'score': 0.31}, {'connected_gene': 'ZFP36L1', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068742 68741727 68742463 0.82 [{'connected_gene': 'RNU6-921P', 'score': 0.44}, {'connected_gene': 'GC14M068736', 'score': 0.44}, {'connected_gene': 'ZFP36L1', 'score': 0.23}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068761 68761304 68761839 0.2 [{'connected_gene': 'RNU6-921P', 'score': 12.28}, {'connected_gene': 'GC14M068736', 'score': 0.31}, {'connected_gene': 'ZFP36L1', 'score': 0.29}, {'connected_gene': 'GC14M068442', 'score': 0.1}]
chr14 GH14I068713 68713248 68715821 1.29 [{'connected_gene': 'ENSG00000258623', 'score': 5.47}, {'connected_gene': 'ZFP36L1', 'score': 1.26}, {'connected_gene': 'RNU6-921P', 'score': 0.34}, {'connected_gene': 'GC14P068694', 'score': 0.34}, {'connected_gene': 'GC14M068736', 'score': 0.34}, {'connected_gene': 'GC14M068442', 'score': 0.08}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14 GH14I068840 68840711 68842713 0.63 [{'connected_gene': 'GC14P068845', 'score': 0.77}, {'connected_gene': 'ZFP36L1', 'score': 0.25}, {'connected_gene': 'GC14M068442', 'score': 0.18}]
chr14 GH14I068826 68825904 68826053 0.83 [{'connected_gene': 'GC14P068845', 'score': 0.37}, {'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'GC14M068442', 'score': 0.16}]
chr14 GH14I068825 68825540 68825573 0.51 [{'connected_gene': 'GC14P068845', 'score': 0.34}, {'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'GC14M068442', 'score': 0.16}]
chr14 GH14I068843 68843119 68844543 0.94 [{'connected_gene': 'GC14P068845', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 17.62}, {'connected_gene': 'SUSD6', 'score': 14.71}, {'connected_gene': 'DCAF5', 'score': 14.35}, {'connected_gene': 'DDX18P1', 'score': 13.8}, {'connected_gene': 'ACTN1', 'score': 5.1}, {'connected_gene': 'ZFP36L1', 'score': 0.25}, {'connected_gene': 'GC14M068442', 'score': 0.18}]
chr14 GH14I068732 68732951 68737800 1.26 [{'connected_gene': 'GC14M068736', 'score': 550.77}, {'connected_gene': 'RNU6-921P', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 17.11}, {'connected_gene': 'DCAF5', 'score': 15.72}, {'connected_gene': 'SRSF5', 'score': 13.96}, {'connected_gene': 'DDX18P1', 'score': 12.8}, {'connected_gene': 'SUSD6', 'score': 12.21}, {'connected_gene': 'ZFP36L1', 'score': 10.84}, {'connected_gene': 'ENSG00000258623', 'score': 5.38}, {'connected_gene': 'GC14P068694', 'score': 0.26}, {'connected_gene': 'GC14M068442', 'score': 0.09}]
chr14 GH14I068679 68679184 68691273 1.61 [{'connected_gene': 'ENSG00000258623', 'score': 550.77}, {'connected_gene': 'LOC100996664', 'score': 550.77}, {'connected_gene': 'EXD2', 'score': 16.38}, {'connected_gene': 'ZFYVE26', 'score': 12.69}, {'connected_gene': 'DCAF5', 'score': 11.48}, {'connected_gene': 'RNU6-921P', 'score': 11.28}, {'connected_gene': 'PLEKHD1', 'score': 4.76}, {'connected_gene': 'SUSD6', 'score': 4.59}, {'connected_gene': 'ZFP36L1', 'score': 4.21}, {'connected_gene': 'GC14P068562', 'score': 0.13}, {'connected_gene': 'GC14M068442', 'score': 0.07}, {'connected_gene': 'RAD51B', 'score': 0.03}]