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
ENST00000370982 [[68167148, 68171259], [68173276, 68173395], [68243140, 68243190], [68299026, 68299150]] [[68171133, 68171259], [68173276, 68173369]]
ENST00000494936 [[68242820, 68243190], [68299026, 68299119]] None
NM_018841 [[68167148, 68171259], [68173276, 68173395], [68243140, 68243190], [68299026, 68299155]] [[68171133, 68171259], [68173276, 68173369]]
Promoter
Chrom Start End Description
chr1 68299054 68299126 CAGE_peak_1_at_GNG12_5end
chr1 68299130 68299160 CAGE_peak_2_at_GNG12_5end
chr1 68299222 68299237 CAGE_peak_5_at_GNG12_5end
chr1 68299303 68299325 CAGE_peak_6_at_GNG12_5end
chr1 68299326 68299370 CAGE_peak_4_at_GNG12_5end
chr1 68299436 68299494 CAGE_peak_3_at_GNG12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I067720 67720907 67721604 0.38 [{'connected_gene': 'WDR78', 'score': 4.31}, {'connected_gene': 'LOC105378781', 'score': 0.29}, {'connected_gene': 'GADD45A', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.14}]
chr1 GH01I068111 68111433 68113727 0.91 [{'connected_gene': 'RPE65', 'score': 10.15}, {'connected_gene': 'GNG12-AS1', 'score': 10.1}, {'connected_gene': 'GNG12', 'score': 10.1}, {'connected_gene': 'GC01M068050', 'score': 0.29}, {'connected_gene': 'CTBP2P8', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.13}]
chr1 GH01I067824 67824419 67825678 0.66 [{'connected_gene': 'GNG12', 'score': 11.97}, {'connected_gene': 'DIRAS3', 'score': 5.78}, {'connected_gene': 'GNG12-AS1', 'score': 0.44}, {'connected_gene': 'RNU7-80P', 'score': 0.23}]
chr1 GH01I067822 67822478 67824237 0.38 [{'connected_gene': 'GNG12', 'score': 11.96}, {'connected_gene': 'DIRAS3', 'score': 4.73}, {'connected_gene': 'GNG12-AS1', 'score': 0.44}, {'connected_gene': 'RNU7-80P', 'score': 0.23}]
chr1 GH01I067826 67826781 67829179 0.83 [{'connected_gene': 'GNG12', 'score': 11.86}, {'connected_gene': 'DIRAS3', 'score': 4.64}, {'connected_gene': 'GNG12-AS1', 'score': 0.77}, {'connected_gene': 'RNU7-80P', 'score': 0.22}]
chr1 GH01I067700 67700047 67702104 1.7 [{'connected_gene': 'GNG12', 'score': 5.16}, {'connected_gene': 'WDR78', 'score': 4.95}, {'connected_gene': 'GADD45A', 'score': 0.37}, {'connected_gene': 'LOC105378781', 'score': 0.23}]
chr1 GH01I067835 67835497 67837621 0.93 [{'connected_gene': 'GNG12', 'score': 7.64}, {'connected_gene': 'MIER1', 'score': 4.28}, {'connected_gene': 'GNG12-AS1', 'score': 0.77}, {'connected_gene': 'LOC100133029', 'score': 0.08}]
chr1 GH01I067757 67757668 67762263 1.36 [{'connected_gene': 'GNG12', 'score': 16.62}, {'connected_gene': 'GADD45A', 'score': 11.89}, {'connected_gene': 'RNU6-1031P', 'score': 11.36}, {'connected_gene': 'GNG12-AS1', 'score': 11.18}, {'connected_gene': 'LOC105378781', 'score': 0.44}, {'connected_gene': 'GC01M067773', 'score': 0.39}]
chr1 GH01I067763 67763169 67767835 1.15 [{'connected_gene': 'GNG12', 'score': 16.34}, {'connected_gene': 'GADD45A', 'score': 11.66}, {'connected_gene': 'RNU6-1031P', 'score': 10.79}, {'connected_gene': 'GNG12-AS1', 'score': 10.64}, {'connected_gene': 'GC01M067773', 'score': 0.44}, {'connected_gene': 'LOC105378781', 'score': 0.39}]
chr1 GH01I067721 67721682 67727425 1.5 [{'connected_gene': 'GNG12', 'score': 5.12}, {'connected_gene': 'LOC105378781', 'score': 0.31}, {'connected_gene': 'GADD45A', 'score': 0.28}]
chr1 GH01I067887 67887814 67891367 1.32 [{'connected_gene': 'GNG12', 'score': 23.24}, {'connected_gene': 'GNG12-AS1', 'score': 10.57}, {'connected_gene': 'DIRAS3', 'score': 4.68}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067801 67801189 67805831 1.05 [{'connected_gene': 'GNG12', 'score': 26.13}, {'connected_gene': 'GNG12-AS1', 'score': 11.73}, {'connected_gene': 'RNU7-80P', 'score': 11.36}, {'connected_gene': 'RNU6-1031P', 'score': 9.95}, {'connected_gene': 'DIRAS3', 'score': 5.44}]
chr1 GH01I067776 67776315 67778024 0.4 [{'connected_gene': 'GNG12', 'score': 15.79}, {'connected_gene': 'GNG12-AS1', 'score': 10.55}, {'connected_gene': 'RNU7-80P', 'score': 0.77}, {'connected_gene': 'LOC105378781', 'score': 0.34}]
chr1 GH01I067789 67788815 67789323 0.2 [{'connected_gene': 'GNG12', 'score': 15.86}, {'connected_gene': 'GNG12-AS1', 'score': 11.02}, {'connected_gene': 'RNU7-80P', 'score': 0.37}]
chr1 GH01I067791 67789601 67789800 0.51 [{'connected_gene': 'GNG12', 'score': 16.07}, {'connected_gene': 'GNG12-AS1', 'score': 11.02}, {'connected_gene': 'RNU7-80P', 'score': 0.37}]
chr1 GH01I067830 67830166 67835102 2.2 [{'connected_gene': 'GNG12', 'score': 563.28}, {'connected_gene': 'GNG12-AS1', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 11.81}]
chr1 GH01I067838 67838197 67841496 1.04 [{'connected_gene': 'GNG12', 'score': 13.47}, {'connected_gene': 'GNG12-AS1', 'score': 0.44}, {'connected_gene': 'LOC100133029', 'score': 0.08}]
chr1 GH01I067843 67843058 67844432 0.46 [{'connected_gene': 'GNG12', 'score': 5.92}, {'connected_gene': 'GNG12-AS1', 'score': 0.39}, {'connected_gene': 'LOC100133029', 'score': 0.08}]
chr1 GH01I067882 67882723 67884157 0.69 [{'connected_gene': 'GNG12', 'score': 22.71}, {'connected_gene': 'GNG12-AS1', 'score': 10.73}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067846 67846274 67848225 0.63 [{'connected_gene': 'GNG12', 'score': 11.9}, {'connected_gene': 'GNG12-AS1', 'score': 0.39}, {'connected_gene': 'LOC100133029', 'score': 0.08}]
chr1 GH01I067853 67853798 67853967 0.89 [{'connected_gene': 'GNG12', 'score': 11.88}, {'connected_gene': 'GNG12-AS1', 'score': 0.34}, {'connected_gene': 'LOC100133029', 'score': 0.09}]
chr1 GH01I067892 67892590 67893449 0.31 [{'connected_gene': 'GNG12', 'score': 17.68}, {'connected_gene': 'GNG12-AS1', 'score': 11.03}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067849 67849266 67851365 1.53 [{'connected_gene': 'GNG12', 'score': 12.01}, {'connected_gene': 'GNG12-AS1', 'score': 0.37}, {'connected_gene': 'LOC100133029', 'score': 0.08}]
chr1 GH01I067896 67896662 67898745 1.06 [{'connected_gene': 'GNG12', 'score': 22.23}, {'connected_gene': 'GNG12-AS1', 'score': 10.35}, {'connected_gene': 'LOC100133029', 'score': 0.11}]
chr1 GH01I067811 67811531 67819992 1.18 [{'connected_gene': 'GNG12', 'score': 14.55}, {'connected_gene': 'RNU7-80P', 'score': 11.21}, {'connected_gene': 'DIRAS3', 'score': 5.72}, {'connected_gene': 'GNG12-AS1', 'score': 0.37}]
chr1 GH01I067779 67779109 67779933 0.2 [{'connected_gene': 'GNG12', 'score': 5.45}, {'connected_gene': 'RNU7-80P', 'score': 0.44}, {'connected_gene': 'LOC105378781', 'score': 0.31}, {'connected_gene': 'GNG12-AS1', 'score': 0.23}]
chr1 GH01I067790 67790167 67795393 1.78 [{'connected_gene': 'GNG12', 'score': 575.62}, {'connected_gene': 'RNU7-80P', 'score': 12.65}, {'connected_gene': 'GNG12-AS1', 'score': 11.85}, {'connected_gene': 'DIRAS3', 'score': 4.52}]
chr1 GH01I067937 67937132 67938447 0.43 [{'connected_gene': 'GNG12', 'score': 0.15}, {'connected_gene': 'LOC100133029', 'score': 0.14}, {'connected_gene': 'GNG12-AS1', 'score': 0.14}]
chr1 GH01I067706 67706826 67707724 0.66 [{'connected_gene': 'GADD45A', 'score': 12.32}, {'connected_gene': 'WDR78', 'score': 4.54}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067731 67731676 67739750 1.42 [{'connected_gene': 'GADD45A', 'score': 12.12}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU6-1031P', 'score': 10.23}, {'connected_gene': 'LOC105378781', 'score': 0.37}, {'connected_gene': 'GNG12', 'score': 0.15}]
chr1 GH01I067712 67712925 67714763 1.27 [{'connected_gene': 'GADD45A', 'score': 12.07}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067740 67740298 67742104 0.74 [{'connected_gene': 'GADD45A', 'score': 11.66}, {'connected_gene': 'RNU6-1031P', 'score': 9.91}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.67}, {'connected_gene': 'LOC105378781', 'score': 0.39}]
chr1 GH01I067755 67755958 67757064 0.31 [{'connected_gene': 'GADD45A', 'score': 11.89}, {'connected_gene': 'RNU6-1031P', 'score': 11.36}, {'connected_gene': 'GNG12-AS1', 'score': 10.67}, {'connected_gene': 'GNG12', 'score': 10.67}, {'connected_gene': 'LOC105378781', 'score': 0.77}, {'connected_gene': 'GC01M067773', 'score': 0.37}]
chr1 GH01I067703 67703509 67705474 0.38 [{'connected_gene': 'GADD45A', 'score': 0.37}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067742 67742590 67745109 0.56 [{'connected_gene': 'GADD45A', 'score': 11.54}, {'connected_gene': 'LOC105378781', 'score': 0.39}, {'connected_gene': 'GNG12', 'score': 0.17}]
chr1 GH01I067707 67706278 67706427 0.63 [{'connected_gene': 'GADD45A', 'score': 0.34}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067708 67708758 67708907 0.58 [{'connected_gene': 'GADD45A', 'score': 12.32}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067717 67717478 67718438 0.85 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.15}, {'connected_gene': 'RNU6-1031P', 'score': 10.33}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067745 67745371 67755891 1.62 [{'connected_gene': 'GADD45A', 'score': 12.52}, {'connected_gene': 'RNU7-80P', 'score': 12.22}, {'connected_gene': 'RNU6-1031P', 'score': 11.37}, {'connected_gene': 'GNG12-AS1', 'score': 10.66}, {'connected_gene': 'GNG12', 'score': 10.66}, {'connected_gene': 'LOC105378781', 'score': 0.77}]
chr1 GH01I067715 67715104 67716342 0.46 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067716 67716504 67717346 0.82 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067710 67710280 67712379 1.18 [{'connected_gene': 'GADD45A', 'score': 12.29}, {'connected_gene': 'RNU7-80P', 'score': 11.13}, {'connected_gene': 'LOC105378781', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067534 67534228 67536433 1.43 [{'connected_gene': 'GADD45A', 'score': 11.15}, {'connected_gene': 'RNU7-80P', 'score': 10.93}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.67}, {'connected_gene': 'SLC35D1', 'score': 2.07}, {'connected_gene': 'GC01P067542', 'score': 0.44}, {'connected_gene': 'LINC01702', 'score': 0.39}]
chr1 GH01I067530 67530878 67531027 0.2 [{'connected_gene': 'GADD45A', 'score': 11.14}, {'connected_gene': 'RNU7-80P', 'score': 10.56}, {'connected_gene': 'GNG12-AS1', 'score': 9.66}, {'connected_gene': 'GNG12', 'score': 9.66}, {'connected_gene': 'LINC01702', 'score': 0.44}, {'connected_gene': 'GC01P067542', 'score': 0.39}]
chr1 GH01I067531 67531675 67533917 0.85 [{'connected_gene': 'GADD45A', 'score': 11.14}, {'connected_gene': 'RNU7-80P', 'score': 10.55}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.66}, {'connected_gene': 'GC01P067542', 'score': 0.44}, {'connected_gene': 'LINC01702', 'score': 0.39}]
chr1 GH01I068022 68022596 68022711 0.39 [{'connected_gene': 'ARL5AP3', 'score': 11.67}, {'connected_gene': 'DIRAS3', 'score': 11.67}, {'connected_gene': 'LOC100133029', 'score': 0.34}, {'connected_gene': 'GNG12', 'score': 0.09}, {'connected_gene': 'GNG12-AS1', 'score': 0.08}]
chr1 GH01I067719 67719941 67720504 0.82 [{'connected_gene': 'LOC105378781', 'score': 0.29}, {'connected_gene': 'GADD45A', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.14}]
chr1 GH01I068144 68144865 68146985 0.67 [{'connected_gene': 'MIR1262', 'score': 11.03}, {'connected_gene': 'GNG12-AS1', 'score': 8.71}, {'connected_gene': 'GNG12', 'score': 8.71}, {'connected_gene': 'DEPDC1', 'score': 5.14}, {'connected_gene': 'CTBP2P8', 'score': 0.37}, {'connected_gene': 'GC01M068050', 'score': 0.2}, {'connected_gene': 'WLS', 'score': 0.17}]
chr1 GH01I067957 67957158 67957327 0.38 [{'connected_gene': 'MIR1262', 'score': 9.18}, {'connected_gene': 'LOC100133029', 'score': 0.17}, {'connected_gene': 'GNG12-AS1', 'score': 0.13}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067785 67785038 67786818 0.89 [{'connected_gene': 'GNG12-AS1', 'score': 11.2}, {'connected_gene': 'GNG12', 'score': 11.2}, {'connected_gene': 'RNU6-1031P', 'score': 9.7}, {'connected_gene': 'RNU7-80P', 'score': 0.39}]
chr1 GH01I067788 67788401 67788600 0.4 [{'connected_gene': 'GNG12-AS1', 'score': 11.02}, {'connected_gene': 'GNG12', 'score': 11.01}, {'connected_gene': 'RNU7-80P', 'score': 0.37}]
chr1 GH01I067820 67820085 67820387 0.42 [{'connected_gene': 'GNG12-AS1', 'score': 0.39}, {'connected_gene': 'GNG12', 'score': 0.39}, {'connected_gene': 'RNU7-80P', 'score': 0.25}]
chr1 GH01I067921 67921898 67921987 0.49 [{'connected_gene': 'GNG12-AS1', 'score': 0.17}, {'connected_gene': 'GNG12', 'score': 0.17}, {'connected_gene': 'LOC100133029', 'score': 0.13}]
chr1 GH01I067874 67874459 67875481 0.78 [{'connected_gene': 'GNG12-AS1', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.26}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067855 67855591 67856875 0.69 [{'connected_gene': 'GNG12-AS1', 'score': 0.34}, {'connected_gene': 'GNG12', 'score': 0.34}, {'connected_gene': 'LOC100133029', 'score': 0.09}]
chr1 GH01I067879 67879919 67881007 0.92 [{'connected_gene': 'GNG12-AS1', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.25}, {'connected_gene': 'LOC100133029', 'score': 0.1}]
chr1 GH01I067780 67780393 67781367 0.2 [{'connected_gene': 'RNU7-80P', 'score': 0.44}, {'connected_gene': 'LOC105378781', 'score': 0.31}, {'connected_gene': 'GNG12-AS1', 'score': 0.23}, {'connected_gene': 'GNG12', 'score': 0.23}]
chr1 GH01I067986 67986855 67988492 0.82 [{'connected_gene': 'LOC100133029', 'score': 0.22}, {'connected_gene': 'GNG12', 'score': 0.1}, {'connected_gene': 'GNG12-AS1', 'score': 0.1}]
chr1 GH01I067947 67947279 67949679 0.43 [{'connected_gene': 'LOC100133029', 'score': 0.16}, {'connected_gene': 'GNG12', 'score': 0.14}, {'connected_gene': 'GNG12-AS1', 'score': 0.13}]
chr1 GH01I067969 67969527 67971074 0.72 [{'connected_gene': 'LOC100133029', 'score': 0.19}, {'connected_gene': 'GNG12-AS1', 'score': 0.12}, {'connected_gene': 'GNG12', 'score': 0.12}]
chr1 GH01I067978 67978801 67979996 0.68 [{'connected_gene': 'LOC100133029', 'score': 0.21}, {'connected_gene': 'GNG12-AS1', 'score': 0.11}, {'connected_gene': 'GNG12', 'score': 0.11}]
chr1 GH01I067773 67773171 67775006 0.31 [{'connected_gene': 'GC01M067773', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 550.77}, {'connected_gene': 'DIRAS3', 'score': 5.79}, {'connected_gene': 'GNG12', 'score': 5.19}, {'connected_gene': 'LOC105378781', 'score': 0.34}, {'connected_gene': 'GNG12-AS1', 'score': 0.22}]
chr1 GH01I067770 67770399 67771937 0.82 [{'connected_gene': 'GC01M067773', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 550.77}, {'connected_gene': 'GNG12', 'score': 5.46}, {'connected_gene': 'LOC105378781', 'score': 0.37}]

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