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
ENST00000229447 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150719190, 150725764]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150719190, 150719273]]
ENST00000344419 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150719190, 150727105]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150719190, 150719373]]
ENST00000392256 [[150690088, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716590], [150719190, 150719245]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716586]]
ENST00000367335 [[150690088, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716702], [150719190, 150719245]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716586]]
ENST00000392255 [[150690132, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150717606, 150717952]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150717606, 150717620]]
ENST00000500320 [[150690132, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150718026]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716758]]
ENST00000546121 [[150690224, 150690345], [150710487, 150710766]] None
ENST00000422583 [[150690290, 150690345], [150710487, 150710611], [150713480, 150713640], [150715234, 150715391], [150719190, 150719245]] [[150690290, 150690345], [150710487, 150710611], [150713480, 150713571]]
ENST00000425615 [[150691112, 150691148], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716668]] [[150691135, 150691148], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716586]]
NM_001318495 [[150690027, 150690345], [150710487, 150710611], [150713480, 150713640], [150715234, 150715391], [150719190, 150725765]] [[150710487, 150710611], [150713480, 150713640], [150715234, 150715391], [150719190, 150719373]]
NM_203395 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150719190, 150725765]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150719190, 150719373]]
NM_001164694 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150719190, 150725765]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716590, 150716702], [150719190, 150719273]]
NM_001164695 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716590], [150719190, 150725765]] [[150690167, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716586]]
NR_134655 [[150690027, 150690345], [150710487, 150710679], [150713480, 150713640], [150715234, 150715391], [150716529, 150716702], [150719190, 150725765]] None
Promoter
Chrom Start End Description
chr6 150690053 150690058 CAGE_peak_3_at_IYD_5end
chr6 150690089 150690094 CAGE_peak_4_at_IYD_5end
chr6 150690140 150690175 CAGE_peak_1_at_IYD_5end
chr6 150690192 150690209 CAGE_peak_2_at_IYD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I150200 150200505 150203258 0.88 [{'connected_gene': 'PPP1R14C', 'score': 20.79}, {'connected_gene': 'ENSG00000238594', 'score': 11.92}, {'connected_gene': 'RNU4-7P', 'score': 11.9}, {'connected_gene': 'IYD', 'score': 10.16}, {'connected_gene': 'LOC105378054', 'score': 0.2}, {'connected_gene': 'GC06M150158', 'score': 0.1}]
chr6 GH06I150072 150071001 150071600 1.03 [{'connected_gene': 'PPP1R14C', 'score': 11.04}, {'connected_gene': 'IYD', 'score': 10.53}, {'connected_gene': 'ULBP3', 'score': 0.77}]
chr6 GH06I150156 150156172 150157580 0.69 [{'connected_gene': 'PPP1R14C', 'score': 8.9}, {'connected_gene': 'IYD', 'score': 8.82}, {'connected_gene': 'ENSG00000238594', 'score': 0.44}]
chr6 GH06I150071 150071814 150072787 1.04 [{'connected_gene': 'ULBP3', 'score': 11.37}, {'connected_gene': 'PPP1R14C', 'score': 11.04}, {'connected_gene': 'IYD', 'score': 10.53}]
chr6 GH06I150296 150296609 150298517 0.99 [{'connected_gene': 'RNU4-7P', 'score': 12.27}, {'connected_gene': 'LATS1', 'score': 11.66}, {'connected_gene': 'IYD', 'score': 11.05}, {'connected_gene': 'RAET1E', 'score': 9.15}, {'connected_gene': 'BTF3P10', 'score': 4.75}, {'connected_gene': 'GC06M150327', 'score': 0.31}, {'connected_gene': 'LOC105378054', 'score': 0.31}, {'connected_gene': 'GC06M150158', 'score': 0.2}]
chr6 GH06I150080 150080745 150080934 0.69 [{'connected_gene': 'RNU4-7P', 'score': 11.35}, {'connected_gene': 'PPP1R14C', 'score': 11.12}, {'connected_gene': 'ENSG00000238594', 'score': 10.92}, {'connected_gene': 'IYD', 'score': 10.7}, {'connected_gene': 'ULBP3', 'score': 0.39}]
chr6 GH06I150292 150292024 150294611 1.25 [{'connected_gene': 'RNU4-7P', 'score': 12.25}, {'connected_gene': 'IYD', 'score': 11.04}, {'connected_gene': 'RAET1E', 'score': 10.26}, {'connected_gene': 'LOC105378054', 'score': 0.34}, {'connected_gene': 'GC06M150327', 'score': 0.29}, {'connected_gene': 'GC06M150158', 'score': 0.2}]
chr6 GH06I150299 150299465 150303496 0.95 [{'connected_gene': 'RNU4-7P', 'score': 12.9}, {'connected_gene': 'IYD', 'score': 10.73}, {'connected_gene': 'GC06M150327', 'score': 0.31}, {'connected_gene': 'LOC105378054', 'score': 0.29}, {'connected_gene': 'GC06M150158', 'score': 0.21}]
chr6 GH06I150403 150403140 150404219 1.1 [{'connected_gene': 'IYD', 'score': 16.34}, {'connected_gene': 'AKAP12', 'score': 10.74}, {'connected_gene': 'ENSG00000202343', 'score': 10.65}, {'connected_gene': 'RPS18P9', 'score': 10.22}, {'connected_gene': 'SSR1P1', 'score': 0.37}, {'connected_gene': 'LOC100420304', 'score': 0.14}]
chr6 GH06I150230 150230846 150233220 0.46 [{'connected_gene': 'IYD', 'score': 10.35}, {'connected_gene': 'PPP1R14C', 'score': 5.85}, {'connected_gene': 'LOC105378054', 'score': 0.28}, {'connected_gene': 'ENSG00000238594', 'score': 0.2}, {'connected_gene': 'GC06M150158', 'score': 0.12}]
chr6 GH06I150152 150152825 150155038 0.94 [{'connected_gene': 'IYD', 'score': 9.86}, {'connected_gene': 'PPP1R14C', 'score': 9.26}, {'connected_gene': 'ENSG00000238594', 'score': 0.39}]
chr6 GH06I150778 150778012 150779539 0.31 [{'connected_gene': 'IYD', 'score': 9.83}, {'connected_gene': 'PDCL3P5', 'score': 0.25}, {'connected_gene': 'ENSG00000226599', 'score': 0.13}, {'connected_gene': 'PLEKHG1', 'score': 0.1}]
chr6 GH06I150478 150478387 150480206 0.2 [{'connected_gene': 'IYD', 'score': 10.13}, {'connected_gene': 'RAET1E', 'score': 9.45}, {'connected_gene': 'PPIL4', 'score': 5.3}, {'connected_gene': 'LOC100420304', 'score': 0.29}, {'connected_gene': 'SSR1P1', 'score': 0.16}]
chr6 GH06I150229 150229865 150230014 0.79 [{'connected_gene': 'IYD', 'score': 10.12}, {'connected_gene': 'LOC105378054', 'score': 0.28}, {'connected_gene': 'ENSG00000238594', 'score': 0.2}, {'connected_gene': 'PPP1R14C', 'score': 0.17}, {'connected_gene': 'GC06M150158', 'score': 0.12}]
chr6 GH06I150395 150395525 150395654 0.69 [{'connected_gene': 'IYD', 'score': 11.95}, {'connected_gene': 'SSR1P1', 'score': 0.39}, {'connected_gene': 'LOC100420304', 'score': 0.14}]
chr6 GH06I150528 150528265 150529339 0.91 [{'connected_gene': 'IYD', 'score': 10.18}, {'connected_gene': 'LOC100420304', 'score': 0.37}, {'connected_gene': 'PLEKHG1', 'score': 0.19}]
chr6 GH06I150451 150451903 150453786 0.8 [{'connected_gene': 'IYD', 'score': 10.05}, {'connected_gene': 'LOC100420304', 'score': 0.22}, {'connected_gene': 'SSR1P1', 'score': 0.2}]
chr6 GH06I150368 150368013 150369584 1.22 [{'connected_gene': 'IYD', 'score': 550.77}, {'connected_gene': 'GC06M150158', 'score': 0.44}]
chr6 GH06I150373 150373245 150373394 0.38 [{'connected_gene': 'IYD', 'score': 0.77}, {'connected_gene': 'GC06P150383', 'score': 0.44}]
chr6 GH06I150383 150383791 150384154 0.23 [{'connected_gene': 'SSR1P1', 'score': 550.77}, {'connected_gene': 'GC06P150383', 'score': 550.77}, {'connected_gene': 'IYD', 'score': 14.49}, {'connected_gene': 'ENSG00000238594', 'score': 10.64}]
chr6 GH06I150731 150731334 150737002 0.72 [{'connected_gene': 'ENSG00000232891', 'score': 11.35}, {'connected_gene': 'PLEKHG1', 'score': 11.35}, {'connected_gene': 'IYD', 'score': 10.28}, {'connected_gene': 'ENSG00000226599', 'score': 0.18}, {'connected_gene': 'PDCL3P5', 'score': 0.16}]