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
ENST00000514251 [[141106653, 141106729], [141122768, 141122873], [141157109, 141157207], [141161230, 141168634]] [[141161230, 141164818]]
ENST00000321464 [[141144957, 141145007], [141161230, 141164830]] [[141145004, 141145007], [141161230, 141164818]]
ENST00000441582 [[141144957, 141145007], [141161230, 141164842]] [[141161230, 141164818]]
ENST00000509842 [[141043054, 141043298], [141087462, 141087646], [141088713, 141088788], [141100266, 141100329], [141105713, 141105779], [141115100, 141115345], [141122768, 141122873], [141161230, 141161682]] [[141161230, 141161682]]
ENST00000513619 [[141087145, 141087646], [141088713, 141088788], [141100266, 141100329], [141105713, 141105779], [141113041, 141113299]] None
ENST00000512276 [[141087165, 141087646], [141088713, 141088788], [141100266, 141100329], [141105713, 141105779], [141122768, 141122873], [141124567, 141124598]] None
ENST00000507657 [[141087331, 141087646], [141088713, 141088788], [141100266, 141100329], [141105713, 141108679]] None
ENST00000507722 [[141103651, 141103717], [141105713, 141105779], [141122768, 141122873], [141161230, 141161586]] [[141161230, 141161586]]
ENST00000512327 [[141105283, 141105597], [141105713, 141106420]] None
ENST00000513249 [[141105287, 141105779], [141122768, 141122848]] None
ENST00000503809 [[141105293, 141105597], [141105713, 141105779], [141122768, 141122873], [141161230, 141161333]] [[141161230, 141161333]]
ENST00000513258 [[141105716, 141105779], [141122768, 141122873], [141157109, 141157207], [141161230, 141161555]] [[141161230, 141161555]]
ENST00000506623 [[141105720, 141105779], [141106282, 141106729], [141122768, 141122858]] None
ENST00000509883 [[141106488, 141106729], [141122768, 141122873], [141161230, 141163543]] [[141161230, 141163543]]
ENST00000510338 [[141121190, 141121291], [141122768, 141122873], [141161230, 141161668]] [[141161230, 141161668]]
ENST00000504673 [[141121211, 141121291], [141122768, 141122873], [141157084, 141157207], [141161230, 141161512]] [[141161230, 141161512]]
ENST00000513570 [[141121659, 141121994], [141122768, 141122873], [141161230, 141161439]] [[141161230, 141161439]]
ENST00000510726 [[141144968, 141145007], [141146475, 141146663], [141161230, 141161862]] [[141161230, 141161862]]
ENST00000509813 [[141150564, 141151085], [141161230, 141161564]] [[141161230, 141161564]]
ENST00000512769 [[141165735, 141165891], [141166477, 141166654]] None
NM_001080412 [[141043054, 141043298], [141087462, 141087646], [141088713, 141088788], [141100266, 141100329], [141105713, 141105779], [141115100, 141115345], [141122768, 141122873], [141161230, 141168634]] [[141161230, 141164818]]
Promoter
Chrom Start End Description
chr3 141043009 141043018 CAGE_peak_84_at_ZBTB38_5end
chr3 141043020 141043049 CAGE_peak_17_at_ZBTB38_5end
chr3 141043050 141043063 CAGE_peak_22_at_ZBTB38_5end
chr3 141087144 141087170 CAGE_peak_11_at_ZBTB38_5end
chr3 141087339 141087387 CAGE_peak_2_at_ZBTB38_5end
chr3 141087393 141087426 CAGE_peak_3_at_ZBTB38_5end
chr3 141087454 141087465 CAGE_peak_19_at_ZBTB38_5end
chr3 141087562 141087594 CAGE_peak_12_at_ZBTB38_5end
chr3 141103404 141103414 CAGE_peak_74_at_ZBTB38_5end
chr3 141103437 141103451 CAGE_peak_55_at_ZBTB38_5end
chr3 141103589 141103603 CAGE_peak_34_at_ZBTB38_5end
chr3 141103634 141103665 CAGE_peak_18_at_ZBTB38_5end
chr3 141105235 141105307 CAGE_peak_7_at_ZBTB38_5end
chr3 141105705 141105770 CAGE_peak_4_at_ZBTB38_5end
chr3 141106458 141106491 CAGE_peak_20_at_ZBTB38_5end
chr3 141106525 141106534 CAGE_peak_68_at_ZBTB38_5end
chr3 141106549 141106561 CAGE_peak_47_at_ZBTB38_5end
chr3 141106608 141106618 CAGE_peak_61_at_ZBTB38_5end
chr3 141106643 141106681 CAGE_peak_16_at_ZBTB38_5end
chr3 141121164 141121249 CAGE_peak_1_at_ZBTB38_5end
chr3 141121369 141121392 CAGE_peak_14_at_ZBTB38_5end
chr3 141121820 141121838 CAGE_peak_9_at_ZBTB38_5end
chr3 141121847 141121868 CAGE_peak_5_at_ZBTB38_5end
chr3 141121871 141121885 CAGE_peak_13_at_ZBTB38_5end
chr3 141121887 141121890 CAGE_peak_58_at_ZBTB38_5end
chr3 141121903 141121912 CAGE_peak_31_at_ZBTB38_5end
chr3 141144954 141144960 CAGE_peak_91_at_ZBTB38_5end
chr3 141144963 141144984 CAGE_peak_44_at_ZBTB38_5end
chr3 141150883 141150961 CAGE_peak_6_at_ZBTB38_5end
chr3 141150971 141150978 CAGE_peak_60_at_ZBTB38_5end
chr3 141151009 141151033 CAGE_peak_10_at_ZBTB38_5end
chr3 141151044 141151053 CAGE_peak_51_at_ZBTB38_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I141484 141484879 141491307 2.22 [{'connected_gene': 'RASA2', 'score': 561.6}, {'connected_gene': 'XRN1', 'score': 13.3}, {'connected_gene': 'ZBTB38', 'score': 5.48}, {'connected_gene': 'RASA2-IT1', 'score': 0.28}]
chr3 GH03I141322 141322935 141334724 1.7 [{'connected_gene': 'RASA2', 'score': 10.41}, {'connected_gene': 'ZBTB38', 'score': 0.77}, {'connected_gene': 'GC03P141334', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.28}, {'connected_gene': 'PXYLP1', 'score': 0.15}]
chr3 GH03I141463 141463479 141463628 0.64 [{'connected_gene': 'RASA2', 'score': 13.0}, {'connected_gene': 'ZBTB38', 'score': 10.67}, {'connected_gene': 'ATP1B3', 'score': 10.41}, {'connected_gene': 'RNU6-509P', 'score': 10.41}, {'connected_gene': 'KRT18P35', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141497 141497589 141501618 1.41 [{'connected_gene': 'RASA2', 'score': 14.75}, {'connected_gene': 'ZBTB38', 'score': 4.77}, {'connected_gene': 'ATP1B3', 'score': 1.17}, {'connected_gene': 'RASA2-IT1', 'score': 0.31}]
chr3 GH03I141460 141460001 141460600 0.99 [{'connected_gene': 'RASA2', 'score': 12.36}, {'connected_gene': 'ZBTB38', 'score': 11.88}, {'connected_gene': 'KRT18P35', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.16}]
chr3 GH03I141513 141513261 141514843 0.38 [{'connected_gene': 'RASA2', 'score': 12.65}, {'connected_gene': 'ZBTB38', 'score': 4.93}, {'connected_gene': 'RASA2-IT1', 'score': 0.39}]
chr3 GH03I141531 141531635 141534463 0.31 [{'connected_gene': 'RASA2', 'score': 12.43}, {'connected_gene': 'ZBTB38', 'score': 4.93}, {'connected_gene': 'RASA2-IT1', 'score': 0.44}, {'connected_gene': 'GC03M141600', 'score': 0.2}]
chr3 GH03I141552 141552147 141553626 0.71 [{'connected_gene': 'RASA2', 'score': 12.12}, {'connected_gene': 'ZBTB38', 'score': 5.03}, {'connected_gene': 'RASA2-IT1', 'score': 0.31}, {'connected_gene': 'GC03M141600', 'score': 0.25}]
chr3 GH03I141544 141544167 141545466 0.51 [{'connected_gene': 'RASA2', 'score': 12.23}, {'connected_gene': 'ZBTB38', 'score': 4.68}, {'connected_gene': 'RASA2-IT1', 'score': 0.37}, {'connected_gene': 'GC03M141600', 'score': 0.22}]
chr3 GH03I141528 141528601 141531060 0.92 [{'connected_gene': 'RASA2', 'score': 12.45}, {'connected_gene': 'ZBTB38', 'score': 4.69}, {'connected_gene': 'RASA2-IT1', 'score': 0.77}, {'connected_gene': 'GC03M141600', 'score': 0.19}]
chr3 GH03I141320 141320831 141321875 0.43 [{'connected_gene': 'RASA2', 'score': 10.41}, {'connected_gene': 'ZBTB38', 'score': 0.77}, {'connected_gene': 'LOC100289442', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.25}, {'connected_gene': 'PXYLP1', 'score': 0.16}]
chr3 GH03I141538 141538491 141543162 0.54 [{'connected_gene': 'RASA2', 'score': 12.24}, {'connected_gene': 'RPL19P6', 'score': 6.03}, {'connected_gene': 'ZBTB38', 'score': 4.92}, {'connected_gene': 'RASA2-IT1', 'score': 0.37}, {'connected_gene': 'GC03M141600', 'score': 0.22}]
chr3 GH03I141417 141417866 141418684 0.2 [{'connected_gene': 'KRT18P35', 'score': 0.23}, {'connected_gene': 'ENSG00000249417', 'score': 0.23}, {'connected_gene': 'ZBTB38', 'score': 0.16}]
chr3 GH03I141448 141448699 141448848 0.58 [{'connected_gene': 'KRT18P35', 'score': 0.34}, {'connected_gene': 'ENSG00000249417', 'score': 0.18}, {'connected_gene': 'ZBTB38', 'score': 0.13}]
chr3 GH03I141470 141470951 141471912 0.43 [{'connected_gene': 'KRT18P35', 'score': 550.77}, {'connected_gene': 'ZBTB38', 'score': 4.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141310 141310801 141313764 1.5 [{'connected_gene': 'GK5', 'score': 19.91}, {'connected_gene': 'YWHAQP6', 'score': 10.61}, {'connected_gene': 'RASA2', 'score': 9.81}, {'connected_gene': 'LOC100289442', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.23}, {'connected_gene': 'PXYLP1', 'score': 0.18}]
chr3 GH03I141302 141302106 141304000 1.05 [{'connected_gene': 'ZBTB38', 'score': 12.01}, {'connected_gene': 'PXYLP1', 'score': 11.17}, {'connected_gene': 'LOC100289442', 'score': 0.77}, {'connected_gene': 'PIR50413', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.21}]
chr3 GH03I141357 141357929 141359668 0.76 [{'connected_gene': 'ZBTB38', 'score': 17.38}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'GC03P141334', 'score': 0.34}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141350 141350230 141351321 0.31 [{'connected_gene': 'ZBTB38', 'score': 12.31}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141360 141360479 141362240 1.37 [{'connected_gene': 'ZBTB38', 'score': 11.72}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'GC03P141334', 'score': 0.31}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141351 141351849 141353121 0.73 [{'connected_gene': 'ZBTB38', 'score': 17.01}, {'connected_gene': 'ENSG00000249417', 'score': 0.39}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141617 141617676 141620566 0.38 [{'connected_gene': 'ZBTB38', 'score': 4.65}, {'connected_gene': 'GC03P141615', 'score': 0.77}, {'connected_gene': 'LOC646730', 'score': 0.26}]
chr3 GH03I141382 141382639 141390308 2.58 [{'connected_gene': 'ZBTB38', 'score': 569.71}, {'connected_gene': 'RASA2', 'score': 10.09}, {'connected_gene': 'PXYLP1', 'score': 5.37}, {'connected_gene': 'YWHAQP6', 'score': 4.16}, {'connected_gene': 'ENSG00000249417', 'score': 0.37}, {'connected_gene': 'KRT18P35', 'score': 0.17}]
chr3 GH03I141465 141465009 141465850 0.46 [{'connected_gene': 'ZBTB38', 'score': 14.83}, {'connected_gene': 'RASA2', 'score': 13.0}, {'connected_gene': 'ATP1B3', 'score': 10.41}, {'connected_gene': 'RNU6-509P', 'score': 10.41}, {'connected_gene': 'KRT18P35', 'score': 0.44}, {'connected_gene': 'ENSG00000249417', 'score': 0.15}]
chr3 GH03I141453 141453891 141458103 1.59 [{'connected_gene': 'ZBTB38', 'score': 16.61}, {'connected_gene': 'RASA2', 'score': 12.34}, {'connected_gene': 'KRT18P35', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.17}]
chr3 GH03I141476 141476988 141477802 0.99 [{'connected_gene': 'ZBTB38', 'score': 4.47}, {'connected_gene': 'RASA2', 'score': 0.44}, {'connected_gene': 'KRT18P35', 'score': 0.44}]
chr3 GH03I141373 141373346 141374525 0.82 [{'connected_gene': 'ZBTB38', 'score': 18.44}, {'connected_gene': 'RASA2', 'score': 10.53}, {'connected_gene': 'YWHAQP6', 'score': 5.26}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'KRT18P35', 'score': 0.15}]
chr3 GH03I141451 141451659 141452800 1.2 [{'connected_gene': 'ZBTB38', 'score': 4.8}, {'connected_gene': 'KRT18P35', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.17}]
chr3 GH03I141439 141439801 141443647 1.25 [{'connected_gene': 'ZBTB38', 'score': 11.76}, {'connected_gene': 'KRT18P35', 'score': 0.29}, {'connected_gene': 'ENSG00000249417', 'score': 0.19}]
chr3 GH03I141420 141420033 141423608 1.03 [{'connected_gene': 'ZBTB38', 'score': 6.73}, {'connected_gene': 'KRT18P35', 'score': 0.23}, {'connected_gene': 'ENSG00000249417', 'score': 0.23}]
chr3 GH03I141435 141435936 141437611 0.74 [{'connected_gene': 'ZBTB38', 'score': 11.77}, {'connected_gene': 'KRT18P35', 'score': 0.28}, {'connected_gene': 'ENSG00000249417', 'score': 0.2}]
chr3 GH03I141429 141429174 141434438 1.11 [{'connected_gene': 'ZBTB38', 'score': 18.15}, {'connected_gene': 'KRT18P35', 'score': 0.26}, {'connected_gene': 'ENSG00000249417', 'score': 0.21}]
chr3 GH03I141375 141375214 141377746 0.43 [{'connected_gene': 'ZBTB38', 'score': 19.33}, {'connected_gene': 'ENSG00000249417', 'score': 0.44}, {'connected_gene': 'KRT18P35', 'score': 0.15}]
chr3 GH03I141378 141378673 141381836 1.03 [{'connected_gene': 'ZBTB38', 'score': 18.86}, {'connected_gene': 'ENSG00000249417', 'score': 0.39}, {'connected_gene': 'KRT18P35', 'score': 0.16}]
chr3 GH03I141342 141342550 141348006 1.19 [{'connected_gene': 'ZBTB38', 'score': 17.41}, {'connected_gene': 'YWHAQP6', 'score': 4.37}, {'connected_gene': 'GC03P141334', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.34}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141353 141353819 141353968 0.79 [{'connected_gene': 'ZBTB38', 'score': 16.27}, {'connected_gene': 'YWHAQP6', 'score': 4.34}, {'connected_gene': 'ENSG00000249417', 'score': 0.39}, {'connected_gene': 'GC03P141334', 'score': 0.37}, {'connected_gene': 'PXYLP1', 'score': 0.13}]
chr3 GH03I141398 141398780 141417418 2.77 [{'connected_gene': 'ZBTB38', 'score': 557.83}, {'connected_gene': 'YWHAQP6', 'score': 4.16}, {'connected_gene': 'RASA2', 'score': 3.42}, {'connected_gene': 'SLC25A36', 'score': 1.78}, {'connected_gene': 'ENSG00000249417', 'score': 0.26}, {'connected_gene': 'KRT18P35', 'score': 0.21}]
chr3 GH03I141390 141390840 141394411 1.21 [{'connected_gene': 'ZBTB38', 'score': 18.83}, {'connected_gene': 'YWHAQP6', 'score': 14.38}, {'connected_gene': 'RASA2', 'score': 12.74}, {'connected_gene': 'GK5', 'score': 9.99}, {'connected_gene': 'ENSG00000249417', 'score': 0.31}, {'connected_gene': 'KRT18P35', 'score': 0.18}]
chr3 GH03I141425 141425501 141428426 1.14 [{'connected_gene': 'ZBTB38', 'score': 11.33}, {'connected_gene': 'YWHAQP6', 'score': 4.17}, {'connected_gene': 'KRT18P35', 'score': 0.26}, {'connected_gene': 'ENSG00000249417', 'score': 0.22}]
chr3 GH03I141506 141506869 141509394 0.2 [{'connected_gene': 'ZBTB38', 'score': 5.06}, {'connected_gene': 'RASA2-IT1', 'score': 0.37}, {'connected_gene': 'RASA2', 'score': 0.34}]
chr3 GH03I141418 141418925 141419830 0.2 [{'connected_gene': 'YWHAQP6', 'score': 4.17}, {'connected_gene': 'KRT18P35', 'score': 0.23}, {'connected_gene': 'ENSG00000249417', 'score': 0.23}, {'connected_gene': 'ZBTB38', 'score': 0.15}]
chr3 GH03I141308 141308601 141309000 1.14 [{'connected_gene': 'LOC100289442', 'score': 550.77}, {'connected_gene': 'RASA2', 'score': 10.34}, {'connected_gene': 'ZBTB38', 'score': 0.37}, {'connected_gene': 'ENSG00000249417', 'score': 0.22}, {'connected_gene': 'PXYLP1', 'score': 0.18}]
chr3 GH03I141364 141364394 141371477 1.81 [{'connected_gene': 'ENSG00000249417', 'score': 550.77}, {'connected_gene': 'RASA2', 'score': 32.75}, {'connected_gene': 'GK5', 'score': 20.8}, {'connected_gene': 'ZBTB38', 'score': 16.49}, {'connected_gene': 'YWHAQP6', 'score': 13.79}, {'connected_gene': 'KRT18P35', 'score': 0.15}, {'connected_gene': 'PXYLP1', 'score': 0.12}]
chr3 GH03I141335 141335329 141338307 1.52 [{'connected_gene': 'GC03P141334', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.29}, {'connected_gene': 'PXYLP1', 'score': 0.14}]
chr3 GH03I141338 141338497 141339504 0.52 [{'connected_gene': 'GC03P141334', 'score': 0.77}, {'connected_gene': 'ZBTB38', 'score': 0.39}, {'connected_gene': 'ENSG00000249417', 'score': 0.31}, {'connected_gene': 'PXYLP1', 'score': 0.14}]

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