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
ENST00000495362 [[119355303, 119355363], [119361212, 119361399]] [[119361322, 119361399]]
ENST00000341124 [[119360904, 119361408], [119362213, 119362296], [119366965, 119367515], [119373351, 119373460], [119378779, 119379491]] [[119367008, 119367515], [119373351, 119373460], [119378779, 119379270]]
ENST00000264231 [[119360905, 119361408], [119367106, 119367515], [119373351, 119373460], [119378779, 119379437]] [[119361322, 119361408], [119367106, 119367515], [119373351, 119373460], [119378779, 119379270]]
ENST00000474523 [[119360905, 119361408], [119362213, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119378910], [119384097, 119384171]] None
ENST00000493094 [[119361181, 119361408], [119366965, 119367515], [119373351, 119373460], [119378779, 119379730]] [[119367008, 119367515], [119373351, 119373460], [119378779, 119379270]]
ENST00000468801 [[119361322, 119361408], [119362213, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379437]] [[119362222, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379270]]
ENST00000538678 [[119362222, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379437]] [[119362222, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379270]]
ENST00000468916 [[119367224, 119367515], [119378779, 119379434]] None
ENST00000476092 [[119367246, 119367515], [119373351, 119373574]] None
ENST00000463323 [[119367287, 119367515], [119373351, 119373460], [119378779, 119378910], [119379366, 119379432]] None
NM_001308333 [[119360898, 119361408], [119362213, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379437]] [[119362222, 119362296], [119367106, 119367515], [119373351, 119373460], [119378779, 119379270]]
NM_022135 [[119360898, 119361408], [119367106, 119367515], [119373351, 119373460], [119378779, 119379437]] [[119361322, 119361408], [119367106, 119367515], [119373351, 119373460], [119378779, 119379270]]
Promoter
Chrom Start End Description
chr3 119379427 119379442 CAGE_peak_1_at_POPDC2_5end
chr3 119379472 119379475 CAGE_peak_6_at_POPDC2_5end
chr3 119379719 119379737 CAGE_peak_2_at_POPDC2_5end
chr3 119379740 119379743 CAGE_peak_5_at_POPDC2_5end
chr3 119379772 119379779 CAGE_peak_3_at_POPDC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I119655 119655442 119656140 0.2 [{'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 4.78}, {'connected_gene': 'PLA1A', 'score': 4.45}, {'connected_gene': 'POPDC2', 'score': 0.44}, {'connected_gene': 'RPL10P7', 'score': 0.37}, {'connected_gene': 'COX17', 'score': 0.34}]
chr3 GH03I119620 119620558 119622234 0.2 [{'connected_gene': 'CD80', 'score': 16.38}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.91}, {'connected_gene': 'ADPRH', 'score': 11.42}, {'connected_gene': 'COX17', 'score': 7.18}, {'connected_gene': 'GC03M119637', 'score': 0.39}, {'connected_gene': 'LOC105374062', 'score': 0.37}]
chr3 GH03I119570 119570001 119571999 1.3 [{'connected_gene': 'CD80', 'score': 19.97}, {'connected_gene': 'PLA1A', 'score': 12.4}, {'connected_gene': 'ARHGAP31', 'score': 12.16}, {'connected_gene': 'ADPRH', 'score': 11.85}, {'connected_gene': 'POPDC2', 'score': 10.64}, {'connected_gene': 'POGLUT1', 'score': 9.71}, {'connected_gene': 'TMEM39A', 'score': 9.71}, {'connected_gene': 'COX17', 'score': 2.25}]
chr3 GH03I119618 119618766 119620444 0.38 [{'connected_gene': 'CD80', 'score': 19.32}, {'connected_gene': 'ADPRH', 'score': 17.46}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.89}, {'connected_gene': 'COX17', 'score': 7.9}, {'connected_gene': 'POGLUT1', 'score': 6.41}, {'connected_gene': 'LOC105374062', 'score': 0.39}, {'connected_gene': 'GC03M119637', 'score': 0.37}]
chr3 GH03I119651 119651738 119652872 0.51 [{'connected_gene': 'MAATS1', 'score': 19.31}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'RPL10P7', 'score': 5.18}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3 GH03I119659 119659128 119663853 1.5 [{'connected_gene': 'POPDC2', 'score': 571.71}, {'connected_gene': 'RPL10P7', 'score': 13.77}, {'connected_gene': 'CD80', 'score': 10.14}, {'connected_gene': 'MAATS1', 'score': 9.85}, {'connected_gene': 'ARHGAP31', 'score': 6.01}, {'connected_gene': 'PLA1A', 'score': 4.44}, {'connected_gene': 'COX17', 'score': 0.37}]
chr3 GH03I119646 119646750 119648400 0.6 [{'connected_gene': 'POPDC2', 'score': 21.21}, {'connected_gene': 'RPL10P7', 'score': 16.52}, {'connected_gene': 'ADPRH', 'score': 5.76}]
chr3 GH03I119664 119664000 119665800 1.09 [{'connected_gene': 'POPDC2', 'score': 560.43}, {'connected_gene': 'LOC105374063', 'score': 550.77}, {'connected_gene': 'MAATS1', 'score': 9.39}, {'connected_gene': 'RPL10P7', 'score': 5.02}, {'connected_gene': 'COX17', 'score': 0.39}]
chr3 GH03I119656 119656194 119658738 0.54 [{'connected_gene': 'POPDC2', 'score': 21.68}, {'connected_gene': 'COX17', 'score': 18.32}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 9.84}, {'connected_gene': 'ADPRH', 'score': 5.1}, {'connected_gene': 'RPL10P7', 'score': 5.05}, {'connected_gene': 'PLA1A', 'score': 4.26}]
chr3 GH03I119497 119497379 119501067 2.05 [{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3 GH03I119644 119644938 119645423 0.31 [{'connected_gene': 'RPL10P7', 'score': 13.5}, {'connected_gene': 'POPDC2', 'score': 0.34}]
chr3 GH03I119645 119645934 119646083 0.84 [{'connected_gene': 'RPL10P7', 'score': 14.12}, {'connected_gene': 'POPDC2', 'score': 0.37}]
chr3 GH03I119652 119651068 119651376 0.61 [{'connected_gene': 'RPL10P7', 'score': 15.02}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 7.26}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3 GH03I119635 119635913 119640405 1.77 [{'connected_gene': 'RPL10P7', 'score': 566.9}, {'connected_gene': 'ADPRH', 'score': 16.22}, {'connected_gene': 'COX17', 'score': 12.37}, {'connected_gene': 'ARHGAP31', 'score': 11.64}, {'connected_gene': 'MAATS1', 'score': 9.8}, {'connected_gene': 'PLA1A', 'score': 4.5}, {'connected_gene': 'GSK3B', 'score': 2.07}, {'connected_gene': 'GC03M119637', 'score': 0.77}, {'connected_gene': 'POPDC2', 'score': 0.31}]
chr3 GH03I119642 119642552 119644797 1.07 [{'connected_gene': 'RPL10P7', 'score': 16.56}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'ADPRH', 'score': 5.78}, {'connected_gene': 'POPDC2', 'score': 0.34}]
chr3 GH03I119649 119649987 119650358 0.75 [{'connected_gene': 'ADPRH', 'score': 17.06}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 1.72}, {'connected_gene': 'RPL10P7', 'score': 0.39}, {'connected_gene': 'POPDC2', 'score': 0.37}]
chr3 GH03I119626 119626787 119631999 1.5 [{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119627 119626334 119626547 0.44 [{'connected_gene': 'ADPRH', 'score': 19.09}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'CD80', 'score': 10.96}, {'connected_gene': 'MAATS1', 'score': 9.77}, {'connected_gene': 'PLA1A', 'score': 5.57}, {'connected_gene': 'ARHGAP31', 'score': 5.12}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3 GH03I119612 119612368 119617120 0.31 [{'connected_gene': 'ADPRH', 'score': 24.93}, {'connected_gene': 'POPDC2', 'score': 11.88}, {'connected_gene': 'CD80', 'score': 11.4}, {'connected_gene': 'COX17', 'score': 7.53}, {'connected_gene': 'RPL10P7', 'score': 5.87}, {'connected_gene': 'GPR156', 'score': 5.68}, {'connected_gene': 'LOC105374062', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.37}, {'connected_gene': 'GC03M119637', 'score': 0.34}]
chr3 GH03I119675 119675594 119678214 2.23 [{'connected_gene': 'COX17', 'score': 565.02}, {'connected_gene': 'MAATS1', 'score': 20.23}, {'connected_gene': 'POPDC2', 'score': 12.21}, {'connected_gene': 'CD80', 'score': 11.0}, {'connected_gene': 'LOC105374063', 'score': 0.39}]
chr3 GH03I119654 119653180 119653499 0.2 [{'connected_gene': 'COX17', 'score': 11.81}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3 GH03I119653 119653655 119655195 0.2 [{'connected_gene': 'COX17', 'score': 18.29}, {'connected_gene': 'ADPRH', 'score': 11.61}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'PLA1A', 'score': 4.46}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]