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
ENST00000423902 [[61591336, 61591641], [61653817, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61736575], [61741221, 61741365], [61742880, 61743136], [61748631, 61748842], [61749375, 61749571], [61750226, 61750394], [61750634, 61750814], [61754202, 61754313], [61754405, 61754611], [61757422, 61757622], [61757808, 61757968], [61761073, 61761163], [61761609, 61761713], [61763051, 61763181], [61763590, 61763663], [61763820, 61763878], [61764577, 61764806], [61765056, 61765265], [61765387, 61766059], [61766921, 61767082], [61768533, 61768761], [61769003, 61769447], [61773462, 61773684], [61774754, 61774895], [61775106, 61775211], [61777574, 61779465]] [[61653991, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61736575], [61741221, 61741365], [61742880, 61743136], [61748631, 61748842], [61749375, 61749571], [61750226, 61750394], [61750634, 61750814], [61754202, 61754313], [61754405, 61754611], [61757422, 61757622], [61757808, 61757968], [61761073, 61761163], [61761609, 61761713], [61763051, 61763181], [61763590, 61763663], [61763820, 61763878], [61764577, 61764806], [61765056, 61765265], [61765387, 61766059], [61766921, 61767082], [61768533, 61768761], [61769003, 61769447], [61773462, 61773684], [61774754, 61774895], [61775106, 61775211], [61777574, 61778492]]
ENST00000526846 [[61592122, 61592350], [61653817, 61654089]] [[61653991, 61654089]]
ENST00000524602 [[61653923, 61655656], [61693558, 61693609], [61774787, 61774895], [61775106, 61775211], [61777574, 61779033]] [[61653991, 61655656], [61693558, 61693609], [61774787, 61774895], [61775106, 61775211], [61777574, 61778492]]
ENST00000525508 [[61653991, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61737974]] [[61653991, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61736614]]
ENST00000527825 [[61654413, 61654444], [61655378, 61655656], [61693558, 61693683]] [[61654413, 61654444], [61655378, 61655405]]
ENST00000527900 [[61655590, 61655656], [61693558, 61693609], [61707544, 61707686], [61712946, 61713085]] [[61655590, 61655656], [61693558, 61693609], [61707544, 61707547]]
ENST00000527921 [[61763295, 61763320], [61763590, 61763663], [61763820, 61763878], [61764577, 61764806], [61765056, 61765198]] None
ENST00000529472 [[61767651, 61767768], [61768533, 61768761], [61769003, 61769446]] None
ENST00000531695 [[61769415, 61769447], [61773462, 61773937]] None
ENST00000532149 [[61774502, 61774895], [61775106, 61775211], [61777574, 61777692]] None
ENST00000528280 [[61775089, 61775211], [61777574, 61778018]] None
NM_017780 [[61591323, 61591641], [61653817, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61736575], [61741221, 61741365], [61742880, 61743136], [61748631, 61748842], [61749375, 61749571], [61750226, 61750394], [61750634, 61750814], [61754202, 61754313], [61754405, 61754611], [61757422, 61757622], [61757808, 61757968], [61761073, 61761163], [61761609, 61761713], [61763051, 61763181], [61763590, 61763663], [61763820, 61763878], [61764577, 61764806], [61765056, 61765265], [61765387, 61766059], [61766921, 61767082], [61768533, 61768761], [61769003, 61769447], [61773462, 61773684], [61774754, 61774895], [61775106, 61775211], [61777574, 61780587]] [[61653991, 61655656], [61693558, 61693989], [61707544, 61707686], [61712946, 61713084], [61714086, 61714152], [61720775, 61720831], [61728945, 61729060], [61732565, 61732649], [61734348, 61734486], [61734582, 61734704], [61735061, 61735305], [61736398, 61736575], [61741221, 61741365], [61742880, 61743136], [61748631, 61748842], [61749375, 61749571], [61750226, 61750394], [61750634, 61750814], [61754202, 61754313], [61754405, 61754611], [61757422, 61757622], [61757808, 61757968], [61761073, 61761163], [61761609, 61761713], [61763051, 61763181], [61763590, 61763663], [61763820, 61763878], [61764577, 61764806], [61765056, 61765265], [61765387, 61766059], [61766921, 61767082], [61768533, 61768761], [61769003, 61769447], [61773462, 61773684], [61774754, 61774895], [61775106, 61775211], [61777574, 61778492]]
NM_001316690 [[61653817, 61655656], [61693558, 61693609], [61774787, 61774895], [61775106, 61775211], [61777574, 61780587]] [[61653991, 61655656], [61693558, 61693609], [61774787, 61774895], [61775106, 61775211], [61777574, 61778492]]
Promoter
Chrom Start End Description
chr8 61591273 61591276 CAGE_peak_8_at_CHD7_5end
chr8 61591290 61591312 CAGE_peak_1_at_CHD7_5end
chr8 61591344 61591393 CAGE_peak_2_at_CHD7_5end
chr8 61591403 61591452 CAGE_peak_5_at_CHD7_5end
chr8 61592038 61592065 CAGE_peak_4_at_CHD7_5end
chr8 61592073 61592100 CAGE_peak_3_at_CHD7_5end
chr8 61592221 61592252 CAGE_peak_7_at_CHD7_5end
chr8 61654836 61654860 CAGE_peak_6_at_CHD7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I060902 60902365 60904979 1.55 [{'connected_gene': 'RAB2A', 'score': 4.84}, {'connected_gene': 'CHD7', 'score': 1.31}, {'connected_gene': 'LOC442389', 'score': 0.77}, {'connected_gene': 'GC08P060868', 'score': 0.28}]
chr8 GH08I060597 60597541 60599528 0.43 [{'connected_gene': 'RAB2A', 'score': 27.03}, {'connected_gene': 'ENSG00000255321', 'score': 11.56}, {'connected_gene': 'CHD7', 'score': 9.87}, {'connected_gene': 'GC08P060601', 'score': 0.77}, {'connected_gene': 'GC08M060522', 'score': 0.34}]
chr8 GH08I060684 60684001 60684600 0.89 [{'connected_gene': 'RAB2A', 'score': 4.93}, {'connected_gene': 'CHD7', 'score': 0.44}, {'connected_gene': 'ENSG00000254432', 'score': 0.13}]
chr8 GH08I060591 60591189 60594052 0.31 [{'connected_gene': 'RAB2A', 'score': 27.14}, {'connected_gene': 'ENSG00000255321', 'score': 11.59}, {'connected_gene': 'CLVS1', 'score': 9.94}, {'connected_gene': 'CHD7', 'score': 9.86}, {'connected_gene': 'GC08P060601', 'score': 0.44}, {'connected_gene': 'GC08M060522', 'score': 0.37}]
chr8 GH08I060677 60677800 60681716 2.1 [{'connected_gene': 'CHD7', 'score': 555.49}, {'connected_gene': 'RAB2A', 'score': 5.14}, {'connected_gene': 'ENSG00000254432', 'score': 0.13}]
chr8 GH08I060908 60908136 60918387 2.2 [{'connected_gene': 'CHD7', 'score': 12.07}, {'connected_gene': 'ENSG00000254432', 'score': 11.46}, {'connected_gene': 'CLVS1', 'score': 10.75}, {'connected_gene': 'RAB2A', 'score': 4.83}, {'connected_gene': 'LOC105375938', 'score': 0.77}, {'connected_gene': 'ENSG00000254777', 'score': 0.77}, {'connected_gene': 'NASPP1', 'score': 0.31}]
chr8 GH08I060925 60925122 60930441 1.54 [{'connected_gene': 'CHD7', 'score': 11.41}, {'connected_gene': 'CLVS1', 'score': 10.33}, {'connected_gene': 'NPM1P6', 'score': 10.22}, {'connected_gene': 'NASPP1', 'score': 0.39}, {'connected_gene': 'LOC105375938', 'score': 0.37}, {'connected_gene': 'ENSG00000254777', 'score': 0.37}]
chr8 GH08I061003 61003802 61005000 1.44 [{'connected_gene': 'CHD7', 'score': 9.91}, {'connected_gene': 'CLVS1', 'score': 4.23}, {'connected_gene': 'GC08P061024', 'score': 0.37}, {'connected_gene': 'LOC100130298', 'score': 0.28}]
chr8 GH08I061035 61035410 61036801 0.63 [{'connected_gene': 'CHD7', 'score': 10.25}, {'connected_gene': 'GC08P061042', 'score': 0.44}, {'connected_gene': 'GC08P061024', 'score': 0.39}, {'connected_gene': 'CLVS1', 'score': 0.2}]
chr8 GH08I061062 61062434 61062857 0.69 [{'connected_gene': 'CHD7', 'score': 10.02}, {'connected_gene': 'GC08P061042', 'score': 0.34}, {'connected_gene': 'GC08M061136', 'score': 0.18}, {'connected_gene': 'CLVS1', 'score': 0.15}]
chr8 GH08I060921 60921894 60924419 0.92 [{'connected_gene': 'CHD7', 'score': 9.92}, {'connected_gene': 'LOC105375938', 'score': 0.39}, {'connected_gene': 'ENSG00000254777', 'score': 0.39}, {'connected_gene': 'NASPP1', 'score': 0.37}]
chr8 GH08I061012 61012527 61015173 1.05 [{'connected_gene': 'CHD7', 'score': 10.11}, {'connected_gene': 'GC08P061024', 'score': 0.44}, {'connected_gene': 'LOC100130298', 'score': 0.25}, {'connected_gene': 'CLVS1', 'score': 0.25}]
chr8 GH08I060815 60815410 60817751 0.74 [{'connected_gene': 'CHD7', 'score': 14.42}, {'connected_gene': 'ENSG00000254432', 'score': 0.44}, {'connected_gene': 'GC08P060868', 'score': 0.23}]
chr8 GH08I060737 60736001 60736200 0.43 [{'connected_gene': 'CHD7', 'score': 10.46}, {'connected_gene': 'ENSG00000254432', 'score': 0.19}]
chr8 GH08I060736 60736401 60736600 0.31 [{'connected_gene': 'CHD7', 'score': 10.46}, {'connected_gene': 'ENSG00000254432', 'score': 0.19}]
chr8 GH08I060747 60747740 60748052 0.37 [{'connected_gene': 'CHD7', 'score': 3.3}, {'connected_gene': 'ENSG00000254432', 'score': 0.21}]
chr8 GH08I060707 60707189 60709606 1 [{'connected_gene': 'CHD7', 'score': 0.31}, {'connected_gene': 'ENSG00000254432', 'score': 0.15}]
chr8 GH08I060795 60795724 60797168 0.54 [{'connected_gene': 'CHD7', 'score': 10.13}, {'connected_gene': 'ENSG00000254432', 'score': 0.39}]
chr8 GH08I060689 60689802 60690571 0.67 [{'connected_gene': 'CHD7', 'score': 0.39}, {'connected_gene': 'ENSG00000254432', 'score': 0.13}]
chr8 GH08I060744 60744484 60744509 0.35 [{'connected_gene': 'CHD7', 'score': 15.87}, {'connected_gene': 'ENSG00000254432', 'score': 0.2}]
chr8 GH08I060702 60702339 60704231 0.67 [{'connected_gene': 'CHD7', 'score': 11.87}, {'connected_gene': 'ENSG00000254432', 'score': 0.14}]
chr8 GH08I060724 60724462 60724480 0.2 [{'connected_gene': 'CHD7', 'score': 11.68}, {'connected_gene': 'ENSG00000254432', 'score': 0.17}]
chr8 GH08I060716 60716126 60716338 0.38 [{'connected_gene': 'CHD7', 'score': 0.28}, {'connected_gene': 'ENSG00000254432', 'score': 0.16}]
chr8 GH08I060725 60724193 60724435 0.2 [{'connected_gene': 'CHD7', 'score': 11.68}, {'connected_gene': 'ENSG00000254432', 'score': 0.17}]
chr8 GH08I060676 60676182 60676779 0.49 [{'connected_gene': 'CHD7', 'score': 0.77}, {'connected_gene': 'ENSG00000255289', 'score': 0.37}]
chr8 GH08I060713 60713322 60716058 1.17 [{'connected_gene': 'NPM1P6', 'score': 14.28}, {'connected_gene': 'CHD7', 'score': 0.28}, {'connected_gene': 'ENSG00000254432', 'score': 0.16}]
chr8 GH08I060998 60998181 61000593 1.23 [{'connected_gene': 'CLVS1', 'score': 11.05}, {'connected_gene': 'CHD7', 'score': 10.31}, {'connected_gene': 'NPM1P6', 'score': 10.12}, {'connected_gene': 'GC08P061024', 'score': 0.34}, {'connected_gene': 'LOC100130298', 'score': 0.29}]
chr8 GH08I061018 61018731 61019283 0.51 [{'connected_gene': 'CLVS1', 'score': 11.58}, {'connected_gene': 'CHD7', 'score': 10.83}, {'connected_gene': 'GC08P061024', 'score': 0.77}, {'connected_gene': 'LOC100130298', 'score': 0.23}]
chr8 GH08I061019 61019599 61021341 0.31 [{'connected_gene': 'CLVS1', 'score': 11.58}, {'connected_gene': 'ENSG00000254432', 'score': 11.22}, {'connected_gene': 'CHD7', 'score': 11.04}, {'connected_gene': 'GC08P061024', 'score': 0.77}, {'connected_gene': 'LOC100130298', 'score': 0.23}]
chr8 GH08I060997 60997634 60997756 0.4 [{'connected_gene': 'CLVS1', 'score': 3.41}, {'connected_gene': 'CHD7', 'score': 1.79}, {'connected_gene': 'GC08P061024', 'score': 0.31}, {'connected_gene': 'LOC100130298', 'score': 0.31}]
chr8 GH08I060850 60850484 60852966 0.94 [{'connected_gene': 'CLVS1', 'score': 10.6}, {'connected_gene': 'CHD7', 'score': 10.53}, {'connected_gene': 'GC08P060868', 'score': 0.37}, {'connected_gene': 'ENSG00000254432', 'score': 0.26}]
chr8 GH08I061095 61095132 61096464 1.03 [{'connected_gene': 'CLVS1', 'score': 17.22}, {'connected_gene': 'CHD7', 'score': 10.95}, {'connected_gene': 'GC08M061136', 'score': 0.23}, {'connected_gene': 'GC08P061042', 'score': 0.23}]
chr8 GH08I060847 60847189 60848940 1.31 [{'connected_gene': 'CLVS1', 'score': 10.59}, {'connected_gene': 'CHD7', 'score': 10.23}, {'connected_gene': 'GC08P060868', 'score': 0.34}, {'connected_gene': 'ENSG00000254432', 'score': 0.28}]
chr8 GH08I060849 60849412 60849864 1.12 [{'connected_gene': 'CLVS1', 'score': 10.59}, {'connected_gene': 'CHD7', 'score': 10.22}, {'connected_gene': 'GC08P060868', 'score': 0.37}, {'connected_gene': 'ENSG00000254432', 'score': 0.26}]
chr8 GH08I060828 60828142 60828291 0.38 [{'connected_gene': 'CLVS1', 'score': 10.13}, {'connected_gene': 'ENSG00000254432', 'score': 0.37}, {'connected_gene': 'GC08P060868', 'score': 0.26}, {'connected_gene': 'CHD7', 'score': 0.11}]
chr8 GH08I060740 60740002 60741706 0.49 [{'connected_gene': 'CLVS1', 'score': 10.42}, {'connected_gene': 'CHD7', 'score': 10.39}, {'connected_gene': 'ENSG00000254432', 'score': 0.2}]
chr8 GH08I060739 60739725 60739811 0.2 [{'connected_gene': 'CLVS1', 'score': 10.42}, {'connected_gene': 'CHD7', 'score': 10.25}, {'connected_gene': 'ENSG00000254432', 'score': 0.2}]
chr8 GH08I060599 60599637 60601201 0.31 [{'connected_gene': 'GC08P060601', 'score': 550.77}, {'connected_gene': 'RAB2A', 'score': 26.98}, {'connected_gene': 'ENSG00000255321', 'score': 11.6}, {'connected_gene': 'CHD7', 'score': 9.88}, {'connected_gene': 'GC08M060522', 'score': 0.31}]
chr8 GH08I060650 60650788 60654386 1.8 [{'connected_gene': 'ENSG00000254869', 'score': 550.77}, {'connected_gene': 'CHD7', 'score': 15.26}, {'connected_gene': 'RAB2A', 'score': 14.44}, {'connected_gene': 'CLVS1', 'score': 10.43}, {'connected_gene': 'ENSG00000255321', 'score': 9.99}, {'connected_gene': 'CA8', 'score': 1.18}, {'connected_gene': 'ENSG00000228862', 'score': 0.37}]
chr8 GH08I060768 60768201 60768600 0.57 [{'connected_gene': 'ENSG00000254432', 'score': 11.83}, {'connected_gene': 'CHD7', 'score': 10.71}, {'connected_gene': 'CLVS1', 'score': 10.66}]
chr8 GH08I060791 60791422 60794199 1.2 [{'connected_gene': 'ENSG00000254432', 'score': 0.37}, {'connected_gene': 'CHD7', 'score': 0.14}]
chr8 GH08I060866 60866655 60866904 0.6 [{'connected_gene': 'GC08P060868', 'score': 550.77}, {'connected_gene': 'ENSG00000254432', 'score': 11.76}, {'connected_gene': 'CHD7', 'score': 0.09}]
chr8 GH08I060864 60864652 60866094 0.51 [{'connected_gene': 'ENSG00000254432', 'score': 11.76}, {'connected_gene': 'GC08P060868', 'score': 0.77}, {'connected_gene': 'CHD7', 'score': 0.09}]
chr8 GH08I060752 60752282 60752511 0.54 [{'connected_gene': 'ENSG00000254432', 'score': 0.22}, {'connected_gene': 'CHD7', 'score': 0.19}]
chr8 GH08I060859 60859111 60860131 0.2 [{'connected_gene': 'GC08P060868', 'score': 0.44}, {'connected_gene': 'ENSG00000254432', 'score': 0.23}, {'connected_gene': 'CHD7', 'score': 0.09}]
chr8 GH08I060759 60759200 60759951 0.91 [{'connected_gene': 'ENSG00000254432', 'score': 11.4}, {'connected_gene': 'CHD7', 'score': 10.97}]
chr8 GH08I060807 60807862 60808051 0.9 [{'connected_gene': 'ENSG00000254432', 'score': 550.77}, {'connected_gene': 'NPM1P6', 'score': 11.98}, {'connected_gene': 'LINC01301', 'score': 10.57}, {'connected_gene': 'CHD7', 'score': 0.13}]
chr8 GH08I060780 60780275 60781592 0.75 [{'connected_gene': 'ENSG00000254432', 'score': 12.23}, {'connected_gene': 'CLVS1', 'score': 11.12}, {'connected_gene': 'CHD7', 'score': 10.49}]
chr8 GH08I061023 61023122 61025152 1.26 [{'connected_gene': 'GC08P061024', 'score': 550.77}, {'connected_gene': 'CLVS1', 'score': 12.69}, {'connected_gene': 'CHD7', 'score': 11.54}, {'connected_gene': 'GC08P061042', 'score': 0.37}]

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