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
ENST00000238994 [[93388198, 93390623], [93392712, 93392811]] [[93389683, 93390623], [93392712, 93392726]]
NM_005398 [[93388197, 93390623], [93392712, 93392858]] [[93389683, 93390623], [93392712, 93392726]]
Promoter
Chrom Start End Description
chr10 93390550 93390566 CAGE_peak_3_at_PPP1R3C_5end
chr10 93392811 93392835 CAGE_peak_1_at_PPP1R3C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH10I091541 91541187 91542333 0.73 [{'connected_gene': 'PPP1R3C', 'score': 20.5}, {'connected_gene': 'RPS27P1', 'score': 0.77}, {'connected_gene': 'HECTD2-AS1', 'score': 0.2}, {'connected_gene': 'ENSG00000271385', 'score': 0.18}]
chr10 GH10I091540 91540681 91540985 0.69 [{'connected_gene': 'PPP1R3C', 'score': 10.45}, {'connected_gene': 'RPS27P1', 'score': 0.77}, {'connected_gene': 'HECTD2-AS1', 'score': 0.19}, {'connected_gene': 'ENSG00000271385', 'score': 0.18}]
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 GH10I091671 91671502 91672987 1.03 [{'connected_gene': 'PPP1R3C', 'score': 10.84}, {'connected_gene': 'HECTD2', 'score': 7.4}, {'connected_gene': 'GAPDHP28', 'score': 0.77}, {'connected_gene': 'GC10M091739', 'score': 0.18}]
chr10 GH10I091551 91551055 91551138 0.2 [{'connected_gene': 'PPP1R3C', 'score': 10.58}, {'connected_gene': 'LOC105378433', 'score': 0.77}, {'connected_gene': 'RPS27P1', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.21}]
chr10 GH10I091555 91555032 91559921 0.92 [{'connected_gene': 'PPP1R3C', 'score': 17.71}, {'connected_gene': 'LOC105378433', 'score': 0.77}, {'connected_gene': 'HECTD2-AS1', 'score': 0.23}]
chr10 GH10I091563 91563227 91563863 0.31 [{'connected_gene': 'PPP1R3C', 'score': 6.67}, {'connected_gene': 'LOC105378433', 'score': 0.39}, {'connected_gene': 'HECTD2-AS1', 'score': 0.25}]
chr10 GH10I091569 91569771 91569995 0.2 [{'connected_gene': 'PPP1R3C', 'score': 6.94}, {'connected_gene': 'LOC105378433', 'score': 0.37}, {'connected_gene': 'HECTD2-AS1', '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 GH10I091627 91627824 91628200 0.89 [{'connected_gene': 'PPP1R3C', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.37}]
chr10 GH10I091626 91626942 91627740 0.46 [{'connected_gene': 'PPP1R3C', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.37}]
chr10 GH10I091625 91625001 91625663 0.31 [{'connected_gene': 'PPP1R3C', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.39}]
chr10 GH10I091630 91626282 91626909 0.31 [{'connected_gene': 'PPP1R3C', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.37}]
chr10 GH10I091628 91628801 91629000 0.51 [{'connected_gene': 'PPP1R3C', 'score': 0.77}, {'connected_gene': 'HECTD2-AS1', 'score': 0.37}]
chr10 GH10I091634 91634220 91634413 0.4 [{'connected_gene': 'PPP1R3C', 'score': 550.77}, {'connected_gene': 'GC10M091667', 'score': 0.29}]
chr10 GH10I091636 91635484 91635673 0.96 [{'connected_gene': 'PPP1R3C', 'score': 0.77}, {'connected_gene': 'GC10M091667', 'score': 0.29}]
chr10 GH10I091635 91635102 91635170 0.58 [{'connected_gene': 'PPP1R3C', 'score': 0.77}, {'connected_gene': 'GC10M091667', 'score': 0.29}]
chr10 GH10I091519 91519979 91521131 0.63 [{'connected_gene': 'HECTD2', 'score': 8.3}, {'connected_gene': 'PPP1R3C', 'score': 6.66}, {'connected_gene': 'RPS27P1', 'score': 0.34}, {'connected_gene': 'ENSG00000271385', 'score': 0.22}, {'connected_gene': 'HECTD2-AS1', 'score': 0.16}]
chr10 GH10I091615 91615750 91617942 1.2 [{'connected_gene': 'HECTD2', 'score': 7.61}, {'connected_gene': 'PPP1R3C', 'score': 6.9}, {'connected_gene': 'TNKS2-AS1', 'score': 4.63}, {'connected_gene': 'HECTD2-AS1', 'score': 0.44}]
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 GH10I091552 91551703 91553109 0.89 [{'connected_gene': 'LOC105378433', 'score': 550.77}, {'connected_gene': 'PPP1R3C', 'score': 17.45}, {'connected_gene': 'RPS27P1', 'score': 0.44}, {'connected_gene': 'HECTD2-AS1', 'score': 0.22}]
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 GH10I091581 91581644 91583348 0.76 [{'connected_gene': 'TNKS2-AS1', 'score': 13.54}, {'connected_gene': 'PPP1R3C', 'score': 10.49}, {'connected_gene': 'HECTD2', 'score': 4.31}, {'connected_gene': 'LOC105378433', 'score': 0.31}, {'connected_gene': 'HECTD2-AS1', 'score': 0.31}]
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}]
chr10 GH10I091297 91297904 91299305 1.04 [{'connected_gene': 'GC10P091296', 'score': 550.77}, {'connected_gene': 'PPP1R3C', 'score': 11.12}, {'connected_gene': 'HECTD2', 'score': 0.14}]
chr10 GH10I092381 92381189 92382339 0.2 [{'connected_gene': 'ENSG00000252993', 'score': 10.3}, {'connected_gene': 'PPP1R3C', 'score': 4.03}, {'connected_gene': 'GC10P092357', 'score': 0.34}, {'connected_gene': 'MARK2P9', 'score': 0.28}, {'connected_gene': 'GC10M092263', 'score': 0.26}]