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
ENST00000371627 [[93558068, 93558646], [93572739, 93572964], [93576890, 93576986], [93579026, 93579063], [93579238, 93579314], [93579695, 93579790], [93582052, 93582119], [93586773, 93586960], [93588041, 93588163], [93590679, 93590771], [93590859, 93590938], [93593609, 93593781], [93596675, 93596755], [93600317, 93600463], [93601039, 93601205], [93601928, 93602148], [93604675, 93604785], [93605508, 93605697], [93608139, 93608392], [93609268, 93609351], [93610972, 93611093], [93614785, 93614883], [93615370, 93615445], [93617181, 93617287], [93619218, 93619405], [93621755, 93621912], [93622693, 93625033]] [[93558447, 93558646], [93572739, 93572964], [93576890, 93576986], [93579026, 93579063], [93579238, 93579314], [93579695, 93579790], [93582052, 93582119], [93586773, 93586960], [93588041, 93588163], [93590679, 93590771], [93590859, 93590938], [93593609, 93593781], [93596675, 93596755], [93600317, 93600463], [93601039, 93601205], [93601928, 93602148], [93604675, 93604785], [93605508, 93605697], [93608139, 93608392], [93609268, 93609351], [93610972, 93611093], [93614785, 93614883], [93615370, 93615445], [93617181, 93617287], [93619218, 93619405], [93621755, 93621912], [93622693, 93622756]]
NM_025235 [[93558150, 93558646], [93572739, 93572964], [93576890, 93576986], [93579026, 93579063], [93579238, 93579314], [93579695, 93579790], [93582052, 93582119], [93586773, 93586960], [93588041, 93588163], [93590679, 93590771], [93590859, 93590938], [93593609, 93593781], [93596675, 93596755], [93600317, 93600463], [93601039, 93601205], [93601928, 93602148], [93604675, 93604785], [93605508, 93605697], [93608139, 93608392], [93609268, 93609351], [93610972, 93611093], [93614785, 93614883], [93615370, 93615445], [93617181, 93617287], [93619218, 93619405], [93621755, 93621912], [93622693, 93625232]] [[93558447, 93558646], [93572739, 93572964], [93576890, 93576986], [93579026, 93579063], [93579238, 93579314], [93579695, 93579790], [93582052, 93582119], [93586773, 93586960], [93588041, 93588163], [93590679, 93590771], [93590859, 93590938], [93593609, 93593781], [93596675, 93596755], [93600317, 93600463], [93601039, 93601205], [93601928, 93602148], [93604675, 93604785], [93605508, 93605697], [93608139, 93608392], [93609268, 93609351], [93610972, 93611093], [93614785, 93614883], [93615370, 93615445], [93617181, 93617287], [93619218, 93619405], [93621755, 93621912], [93622693, 93622756]]
Promoter
Chrom Start End Description
chr10 93558113 93558154 CAGE_peak_2_at_TNKS2_5end
chr10 93558160 93558234 CAGE_peak_1_at_TNKS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I092754 92754239 92758466 1.94 [{'connected_gene': 'BTAF1', 'score': 43.86}, {'connected_gene': 'RPL17P34', 'score': 31.97}, {'connected_gene': 'PDE6C', 'score': 12.09}, {'connected_gene': 'TNKS2', 'score': 9.78}, {'connected_gene': 'MARK2P9', 'score': 6.0}, {'connected_gene': 'EXOC6', 'score': 2.84}, {'connected_gene': 'MARCH5', 'score': 2.78}, {'connected_gene': 'HHEX', 'score': 2.63}, {'connected_gene': 'GC10P092747', 'score': 0.44}, {'connected_gene': 'GC10M092781', 'score': 0.31}]
chr10 GH10I091922 91922498 91925318 2.06 [{'connected_gene': 'BTAF1', 'score': 598.72}, {'connected_gene': 'HECTD2', 'score': 10.15}, {'connected_gene': 'TNKS2', 'score': 8.32}, {'connected_gene': 'ENSG00000252993', 'score': 0.1}]
chr10 GH10I091161 91161684 91165406 2.2 [{'connected_gene': 'PCGF5', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 15.59}, {'connected_gene': 'TNKS2', 'score': 12.41}, {'connected_gene': 'NUDT9P1', 'score': 6.74}, {'connected_gene': 'HECTD2', 'score': 1.83}, {'connected_gene': 'PIR60971', 'score': 0.28}]
chr10 GH10I091219 91219013 91222533 2.21 [{'connected_gene': 'PCGF5', 'score': 550.22}, {'connected_gene': 'BTAF1', 'score': 15.59}, {'connected_gene': 'TNKS2', 'score': 12.41}, {'connected_gene': 'PIR60971', 'score': 0.37}, {'connected_gene': 'GC10P091282', 'score': 0.21}]
chr10 GH10I091711 91711836 91712696 0.38 [{'connected_gene': 'TNKS2', 'score': 16.92}, {'connected_gene': 'PPP1R3C', 'score': 10.28}, {'connected_gene': 'GC10M091739', 'score': 0.28}, {'connected_gene': 'GAPDHP28', 'score': 0.26}]
chr10 GH10I091621 91621295 91622510 0.46 [{'connected_gene': 'TNKS2', 'score': 6.6}, {'connected_gene': 'PPP1R3C', 'score': 0.39}, {'connected_gene': 'HECTD2-AS1', 'score': 0.39}]
chr10 GH10I091900 91900754 91903127 1.13 [{'connected_gene': 'TNKS2', 'score': 9.56}, {'connected_gene': 'FGFBP3', 'score': 6.06}, {'connected_gene': 'EXOC6', 'score': 4.87}, {'connected_gene': 'EIF2S2P3', 'score': 4.65}, {'connected_gene': 'ENSG00000273497', 'score': 0.44}, {'connected_gene': 'ENSG00000272817', 'score': 0.44}]
chr10 GH10I091758 91758684 91758813 0.62 [{'connected_gene': 'TNKS2', 'score': 11.14}, {'connected_gene': 'TNKS2-AS1', 'score': 11.14}, {'connected_gene': 'GC10M091739', 'score': 0.44}, {'connected_gene': 'GC10P091765', 'score': 0.44}]
chr10 GH10I091890 91890662 91892263 0.88 [{'connected_gene': 'TNKS2', 'score': 14.04}, {'connected_gene': 'TNKS2-AS1', 'score': 4.34}, {'connected_gene': 'ENSG00000273497', 'score': 0.44}, {'connected_gene': 'GC10M091835', 'score': 0.26}]
chr10 GH10I091879 91879292 91880880 0.72 [{'connected_gene': 'TNKS2', 'score': 21.62}, {'connected_gene': 'ENSG00000273497', 'score': 0.37}, {'connected_gene': 'GC10M091835', 'score': 0.29}]
chr10 GH10I091803 91803604 91803753 0.63 [{'connected_gene': 'SRP9P1', 'score': 0.77}, {'connected_gene': 'TNKS2', 'score': 0.44}, {'connected_gene': 'GC10M091801', 'score': 0.44}]
chr10 GH10I091807 91807401 91807600 0.31 [{'connected_gene': 'SRP9P1', 'score': 550.77}, {'connected_gene': 'GC10M091801', 'score': 0.77}, {'connected_gene': 'TNKS2', 'score': 0.44}]
chr10 GH10I091602 91602451 91606493 1.42 [{'connected_gene': 'PPP1R3C', 'score': 21.27}, {'connected_gene': 'BTAF1', 'score': 11.52}, {'connected_gene': 'TNKS2', 'score': 8.1}, {'connected_gene': 'HECTD2', 'score': 6.73}, {'connected_gene': 'HECTD2-AS1', 'score': 0.44}, {'connected_gene': 'LOC105378433', 'score': 0.23}]
chr10 GH10I091595 91595884 91599591 1.21 [{'connected_gene': 'PPP1R3C', 'score': 22.18}, {'connected_gene': 'HECTD2', 'score': 6.33}, {'connected_gene': 'TNKS2', 'score': 6.16}, {'connected_gene': 'HECTD2-AS1', 'score': 0.39}, {'connected_gene': 'LOC105378433', 'score': 0.26}]
chr10 GH10I091629 91629432 91634141 2.39 [{'connected_gene': 'PPP1R3C', 'score': 557.96}, {'connected_gene': 'TNKS2-AS1', 'score': 15.16}, {'connected_gene': 'HECTD2', 'score': 7.22}, {'connected_gene': 'TNKS2', 'score': 5.12}, {'connected_gene': 'HECTD2-AS1', 'score': 0.34}]
chr10 GH10I092590 92590278 92595748 2.45 [{'connected_gene': 'KIF11', 'score': 555.88}, {'connected_gene': 'GC10P092594', 'score': 550.77}, {'connected_gene': 'GC10P092595', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 37.29}, {'connected_gene': 'TNKS2', 'score': 24.39}, {'connected_gene': 'RPL17P34', 'score': 14.12}, {'connected_gene': 'MYOF', 'score': 10.55}, {'connected_gene': 'EIF2S2P3', 'score': 7.39}, {'connected_gene': 'TNKS2-AS1', 'score': 4.31}, {'connected_gene': 'CPEB3', 'score': 2.15}, {'connected_gene': 'MARCH5', 'score': 1.26}, {'connected_gene': 'GC10M092594', 'score': 0.77}, {'connected_gene': 'IDE', 'score': 0.37}]
chr10 GH10I092572 92572208 92575362 2.08 [{'connected_gene': 'IDE', 'score': 565.01}, {'connected_gene': 'BTAF1', 'score': 49.03}, {'connected_gene': 'RPL17P34', 'score': 31.77}, {'connected_gene': 'MYOF', 'score': 12.48}, {'connected_gene': 'TNKS2', 'score': 10.28}, {'connected_gene': 'MARK2P9', 'score': 8.06}, {'connected_gene': 'EIF2S2P3', 'score': 4.25}, {'connected_gene': 'GC10M092559', 'score': 0.39}]
chr10 GH10I092688 92688560 92698661 2.48 [{'connected_gene': 'HHEX', 'score': 565.95}, {'connected_gene': 'BTAF1', 'score': 33.91}, {'connected_gene': 'RPL17P34', 'score': 27.24}, {'connected_gene': 'PDE6C', 'score': 25.3}, {'connected_gene': 'KIF11', 'score': 16.39}, {'connected_gene': 'IDE', 'score': 11.89}, {'connected_gene': 'TNKS2', 'score': 10.36}, {'connected_gene': 'EIF2S2P3', 'score': 4.68}, {'connected_gene': 'GC10M092666', 'score': 0.77}]
chr10 GH10I092449 92449713 92453327 0.46 [{'connected_gene': 'EIF2S2P3', 'score': 6.82}, {'connected_gene': 'MARK2P9', 'score': 6.32}, {'connected_gene': 'KIF11', 'score': 5.38}, {'connected_gene': 'TNKS2', 'score': 4.98}, {'connected_gene': 'GC10M092442', 'score': 0.39}, {'connected_gene': 'GC10M092559', 'score': 0.14}, {'connected_gene': 'IDE', 'score': 0.13}]
chr10 GH10I092210 92210117 92212212 1.26 [{'connected_gene': 'CPEB3', 'score': 14.3}, {'connected_gene': 'TNKS2-AS1', 'score': 7.42}, {'connected_gene': 'EXOC6', 'score': 4.52}, {'connected_gene': 'BTAF1', 'score': 3.16}, {'connected_gene': 'TNKS2', 'score': 1.19}, {'connected_gene': 'GC10M092205', 'score': 0.44}, {'connected_gene': 'NHP2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000221042', 'score': 0.44}]
chr10 GH10I091907 91907520 91909801 2.03 [{'connected_gene': 'FGFBP3', 'score': 556.94}, {'connected_gene': 'ENSG00000272817', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 24.19}, {'connected_gene': 'HECTD2', 'score': 13.47}, {'connected_gene': 'TNKS2', 'score': 6.72}]
chr10 GH10I091607 91607455 91610082 1.7 [{'connected_gene': 'HECTD2', 'score': 62.06}, {'connected_gene': 'RPP30', 'score': 59.23}, {'connected_gene': 'BTAF1', 'score': 55.96}, {'connected_gene': 'PPP1R3C', 'score': 23.58}, {'connected_gene': 'FGFBP3', 'score': 12.61}, {'connected_gene': 'TNKS2-AS1', 'score': 11.09}, {'connected_gene': 'MARK2P9', 'score': 9.75}, {'connected_gene': 'TNKS2', 'score': 6.52}, {'connected_gene': 'HECTD2-AS1', 'score': 0.77}, {'connected_gene': 'LOC105378433', 'score': 0.22}]
chr10 GH10I091587 91587553 91594885 1.79 [{'connected_gene': 'RPP30', 'score': 29.89}, {'connected_gene': 'BTAF1', 'score': 16.82}, {'connected_gene': 'HECTD2', 'score': 16.26}, {'connected_gene': 'TNKS2-AS1', 'score': 14.68}, {'connected_gene': 'PPP1R3C', 'score': 6.1}, {'connected_gene': 'TNKS2', 'score': 4.63}, {'connected_gene': 'HECTD2-AS1', 'score': 0.34}, {'connected_gene': 'LOC105378433', 'score': 0.28}]
chr10 GH10I091883 91883141 91888284 1.66 [{'connected_gene': 'TNKS2-AS1', 'score': 37.54}, {'connected_gene': 'TNKS2', 'score': 31.72}, {'connected_gene': 'BTAF1', 'score': 15.85}, {'connected_gene': 'NUDT9P1', 'score': 9.87}, {'connected_gene': 'HECTD2', 'score': 5.42}, {'connected_gene': 'FGFBP3', 'score': 1.68}, {'connected_gene': 'ENSG00000273497', 'score': 0.39}, {'connected_gene': 'GC10M091835', 'score': 0.28}]
chr10 GH10I091642 91642806 91643511 0.63 [{'connected_gene': 'TNKS2-AS1', 'score': 16.25}, {'connected_gene': 'TNKS2', 'score': 13.26}, {'connected_gene': 'PPP1R3C', 'score': 0.39}, {'connected_gene': 'GC10M091667', 'score': 0.34}]
chr10 GH10I091651 91651549 91654435 0.84 [{'connected_gene': 'TNKS2-AS1', 'score': 16.21}, {'connected_gene': 'TNKS2', 'score': 13.36}, {'connected_gene': 'GC10M091667', 'score': 0.39}, {'connected_gene': 'PPP1R3C', 'score': 0.37}]
chr10 GH10I091795 91795984 91800803 2.04 [{'connected_gene': 'TNKS2-AS1', 'score': 595.28}, {'connected_gene': 'TNKS2', 'score': 570.76}, {'connected_gene': 'GC10M091797', 'score': 550.77}, {'connected_gene': 'PIR42497', 'score': 550.77}, {'connected_gene': 'HECTD2', 'score': 4.83}, {'connected_gene': 'SRP9P1', 'score': 0.44}]
chr10 GH10I091683 91683449 91685056 0.69 [{'connected_gene': 'TNKS2-AS1', 'score': 30.9}, {'connected_gene': 'TNKS2', 'score': 16.77}, {'connected_gene': 'HECTD2', 'score': 6.95}, {'connected_gene': 'GAPDHP28', 'score': 0.37}, {'connected_gene': 'GC10M091739', 'score': 0.2}]
chr10 GH10I091755 91755992 91756623 0.43 [{'connected_gene': 'TNKS2-AS1', 'score': 26.0}, {'connected_gene': 'TNKS2', 'score': 11.13}, {'connected_gene': 'HECTD2', 'score': 5.35}, {'connected_gene': 'GC10M091739', 'score': 0.44}, {'connected_gene': 'GC10P091765', 'score': 0.44}]
chr10 GH10I091610 91610231 91614947 1.48 [{'connected_gene': 'HECTD2-AS1', 'score': 550.77}, {'connected_gene': 'PPP1R3C', 'score': 24.62}, {'connected_gene': 'HECTD2', 'score': 11.25}, {'connected_gene': 'TNKS2', 'score': 8.92}, {'connected_gene': 'TNKS2-AS1', 'score': 8.57}]

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