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
ENST00000319332 [[189674516, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189838040, 189838718]] [[189675700, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189838040, 189838520]]
ENST00000427335 [[189674619, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189839991, 189840226]] [[189675700, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713168]]
ENST00000444866 [[189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189834368, 189834437]] [[189706695, 189706827], [189711882, 189712072], [189713078, 189713168]]
ENST00000426003 [[189706703, 189706827], [189711882, 189712072], [189713078, 189713231], [189839325, 189839467]] [[189706703, 189706827], [189711882, 189712072], [189713078, 189713168]]
ENST00000490940 [[189675485, 189675793], [189681746, 189681910]] None
ENST00000463171 [[189681247, 189681887], [189688604, 189688680], [189689678, 189689716]] None
ENST00000467131 [[189681838, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690973]] None
ENST00000482780 [[189689336, 189689796], [189690662, 189690813], [189691697, 189691979]] None
ENST00000470925 [[189692356, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705554]] None
ENST00000475095 [[189692361, 189692474], [189700834, 189701273]] None
NM_018192 [[189674516, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189838040, 189838908]] [[189675700, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189838040, 189838520]]
NM_001134418 [[189674516, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713231], [189839991, 189840226]] [[189675700, 189675793], [189681746, 189681887], [189688604, 189688680], [189689678, 189689796], [189690662, 189690813], [189691697, 189691793], [189692346, 189692474], [189700834, 189700929], [189702338, 189702379], [189704576, 189704666], [189705315, 189705458], [189706695, 189706827], [189711882, 189712072], [189713078, 189713168]]
Promoter
Chrom Start End Description
chr3 189838119 189838136 CAGE_peak_5_at_LEPREL1_5end
chr3 189838148 189838205 CAGE_peak_2_at_LEPREL1_5end
chr3 189838653 189838658 CAGE_peak_3_at_LEPREL1_5end
chr3 189838670 189838704 CAGE_peak_1_at_LEPREL1_5end
chr3 189838746 189838757 CAGE_peak_4_at_LEPREL1_5end
chr3 189838995 189839000 CAGE_peak_31_at_LEPREL1_5end
chr3 189839367 189839371 CAGE_peak_16_at_LEPREL1_5end
chr3 189839512 189839520 CAGE_peak_21_at_LEPREL1_5end
chr3 189840026 189840048 CAGE_peak_10_at_LEPREL1_5end
chr3 189840061 189840073 CAGE_peak_14_at_LEPREL1_5end
chr3 189840106 189840120 CAGE_peak_18_at_LEPREL1_5end
chr3 189840223 189840229 CAGE_peak_26_at_LEPREL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I190201 190201601 190202199 0.59 [{'connected_gene': 'CLDN1', 'score': 17.37}, {'connected_gene': 'P3H2', 'score': 10.79}, {'connected_gene': 'CLDN16', 'score': 10.33}, {'connected_gene': 'NMNAT1P3', 'score': 0.28}]
chr3 GH03I190205 190205522 190206538 0.96 [{'connected_gene': 'CLDN1', 'score': 15.77}, {'connected_gene': 'P3H2', 'score': 10.79}, {'connected_gene': 'CLDN16', 'score': 10.33}, {'connected_gene': 'NMNAT1P3', 'score': 0.28}]
chr3 GH03I190010 190010393 190016009 1.14 [{'connected_gene': 'CLDN1', 'score': 10.4}, {'connected_gene': 'CLDN16', 'score': 10.4}, {'connected_gene': 'P3H2', 'score': 6.33}, {'connected_gene': 'MTAPP2', 'score': 0.26}, {'connected_gene': 'GC03P190094', 'score': 0.18}]
chr3 GH03I190050 190050953 190052394 0.38 [{'connected_gene': 'P3H2', 'score': 11.8}, {'connected_gene': 'CLDN1', 'score': 9.7}, {'connected_gene': 'CLDN16', 'score': 9.7}, {'connected_gene': 'GC03P190094', 'score': 0.26}, {'connected_gene': 'MTAPP2', 'score': 0.18}]
chr3 GH03I190124 190124221 190124365 0.23 [{'connected_gene': 'P3H2', 'score': 562.51}, {'connected_gene': 'TMEM207', 'score': 2.55}, {'connected_gene': 'P3H2-AS1', 'score': 0.77}, {'connected_gene': 'RNU6-1109P', 'score': 0.26}, {'connected_gene': 'GC03M190166', 'score': 0.26}]
chr3 GH03I190191 190191988 190193648 0.38 [{'connected_gene': 'P3H2', 'score': 11.53}, {'connected_gene': 'P3H2-AS1', 'score': 10.84}, {'connected_gene': 'CLDN1', 'score': 4.9}, {'connected_gene': 'NMNAT1P3', 'score': 0.31}]
chr3 GH03I189961 189961234 189962197 1.18 [{'connected_gene': 'P3H2', 'score': 16.52}, {'connected_gene': 'P3H2-AS1', 'score': 10.7}, {'connected_gene': 'CLDN1', 'score': 10.46}, {'connected_gene': 'CLDN16', 'score': 10.46}, {'connected_gene': 'MTAPP2', 'score': 0.44}, {'connected_gene': 'MIR944', 'score': 0.12}]
chr3 GH03I190040 190040322 190045844 1.04 [{'connected_gene': 'P3H2', 'score': 20.23}, {'connected_gene': 'P3H2-AS1', 'score': 10.87}, {'connected_gene': 'CLDN1', 'score': 9.47}, {'connected_gene': 'CLDN16', 'score': 9.47}, {'connected_gene': 'GC03P190094', 'score': 0.23}, {'connected_gene': 'MTAPP2', 'score': 0.19}]
chr3 GH03I189999 189999242 190001818 0.74 [{'connected_gene': 'P3H2', 'score': 17.71}, {'connected_gene': 'P3H2-AS1', 'score': 10.9}, {'connected_gene': 'CLDN1', 'score': 9.71}, {'connected_gene': 'CLDN16', 'score': 9.71}, {'connected_gene': 'MTAPP2', 'score': 0.29}, {'connected_gene': 'GC03P190094', 'score': 0.16}]
chr3 GH03I190062 190062225 190065422 1.04 [{'connected_gene': 'P3H2', 'score': 18.71}, {'connected_gene': 'P3H2-AS1', 'score': 11.26}, {'connected_gene': 'CLDN1', 'score': 9.13}, {'connected_gene': 'CLDN16', 'score': 9.13}, {'connected_gene': 'GC03P190094', 'score': 0.29}, {'connected_gene': 'MTAPP2', 'score': 0.16}]
chr3 GH03I190006 190006607 190010098 0.2 [{'connected_gene': 'P3H2', 'score': 16.69}, {'connected_gene': 'P3H2-AS1', 'score': 11.15}, {'connected_gene': 'CLDN1', 'score': 10.4}, {'connected_gene': 'CLDN16', 'score': 10.4}, {'connected_gene': 'MTAPP2', 'score': 0.28}, {'connected_gene': 'GC03P190094', 'score': 0.17}]
chr3 GH03I190048 190048387 190050089 0.96 [{'connected_gene': 'P3H2', 'score': 17.13}, {'connected_gene': 'P3H2-AS1', 'score': 10.96}, {'connected_gene': 'CLDN1', 'score': 9.7}, {'connected_gene': 'CLDN16', 'score': 9.7}, {'connected_gene': 'GC03P190094', 'score': 0.25}, {'connected_gene': 'MTAPP2', 'score': 0.18}]
chr3 GH03I190154 190154703 190157151 0.46 [{'connected_gene': 'P3H2', 'score': 22.75}, {'connected_gene': 'P3H2-AS1', 'score': 9.28}, {'connected_gene': 'RNU6-1109P', 'score': 0.44}, {'connected_gene': 'GC03M190166', 'score': 0.44}]
chr3 GH03I190152 190152072 190152221 0.2 [{'connected_gene': 'P3H2', 'score': 11.81}, {'connected_gene': 'P3H2-AS1', 'score': 10.75}, {'connected_gene': 'RNU6-1109P', 'score': 0.39}, {'connected_gene': 'GC03M190166', 'score': 0.39}]
chr3 GH03I190150 190150159 190151484 0.2 [{'connected_gene': 'P3H2', 'score': 18.12}, {'connected_gene': 'P3H2-AS1', 'score': 10.77}, {'connected_gene': 'RNU6-1109P', 'score': 0.39}, {'connected_gene': 'GC03M190166', 'score': 0.39}]
chr3 GH03I190070 190070213 190071529 0.54 [{'connected_gene': 'P3H2', 'score': 17.5}, {'connected_gene': 'P3H2-AS1', 'score': 11.12}, {'connected_gene': 'GC03P190094', 'score': 0.34}, {'connected_gene': 'MTAPP2', 'score': 0.15}]
chr3 GH03I190075 190075461 190078425 1.33 [{'connected_gene': 'P3H2', 'score': 19.63}, {'connected_gene': 'P3H2-AS1', 'score': 11.15}, {'connected_gene': 'GC03P190094', 'score': 0.37}, {'connected_gene': 'MTAPP2', 'score': 0.14}]
chr3 GH03I190055 190055883 190061598 0.86 [{'connected_gene': 'P3H2', 'score': 22.23}, {'connected_gene': 'P3H2-AS1', 'score': 11.52}, {'connected_gene': 'GC03P190094', 'score': 0.28}, {'connected_gene': 'MTAPP2', 'score': 0.17}]
chr3 GH03I189995 189995200 189995401 0.63 [{'connected_gene': 'P3H2', 'score': 10.96}, {'connected_gene': 'P3H2-AS1', 'score': 10.66}, {'connected_gene': 'MTAPP2', 'score': 0.31}, {'connected_gene': 'GC03P190094', 'score': 0.15}]
chr3 GH03I190002 190002611 190005815 1.09 [{'connected_gene': 'P3H2', 'score': 17.23}, {'connected_gene': 'P3H2-AS1', 'score': 10.9}, {'connected_gene': 'MTAPP2', 'score': 0.29}, {'connected_gene': 'GC03P190094', 'score': 0.16}]
chr3 GH03I190072 190072895 190074713 0.92 [{'connected_gene': 'P3H2', 'score': 18.03}, {'connected_gene': 'P3H2-AS1', 'score': 11.13}, {'connected_gene': 'GC03P190094', 'score': 0.34}, {'connected_gene': 'MTAPP2', 'score': 0.15}]
chr3 GH03I190119 190119201 190123077 2.09 [{'connected_gene': 'P3H2', 'score': 561.97}, {'connected_gene': 'P3H2-AS1', 'score': 555.61}]
chr3 GH03I190115 190115920 190119000 0.92 [{'connected_gene': 'P3H2', 'score': 8.75}, {'connected_gene': 'P3H2-AS1', 'score': 0.77}, {'connected_gene': 'GC03P190113', 'score': 0.77}]
chr3 GH03I189927 189927396 189929507 0.76 [{'connected_gene': 'P3H2', 'score': 4.95}, {'connected_gene': 'MTAPP2', 'score': 0.26}, {'connected_gene': 'MIR944', 'score': 0.15}]
chr3 GH03I190016 190016828 190018374 0.94 [{'connected_gene': 'P3H2', 'score': 8.45}, {'connected_gene': 'MTAPP2', 'score': 0.25}, {'connected_gene': 'GC03P190094', 'score': 0.18}]
chr3 GH03I189983 189983732 189983881 0.58 [{'connected_gene': 'P3H2', 'score': 6.05}, {'connected_gene': 'MTAPP2', 'score': 0.39}, {'connected_gene': 'GC03P190094', 'score': 0.14}]
chr3 GH03I190033 190033072 190033221 0.58 [{'connected_gene': 'P3H2', 'score': 17.78}, {'connected_gene': 'GC03P190094', 'score': 0.21}, {'connected_gene': 'MTAPP2', 'score': 0.21}]
chr3 GH03I190036 190036380 190038916 1.15 [{'connected_gene': 'P3H2', 'score': 6.83}, {'connected_gene': 'GC03P190094', 'score': 0.22}, {'connected_gene': 'MTAPP2', 'score': 0.2}]
chr3 GH03I189989 189989992 189991411 0.31 [{'connected_gene': 'P3H2', 'score': 6.38}, {'connected_gene': 'MTAPP2', 'score': 0.34}, {'connected_gene': 'GC03P190094', 'score': 0.15}]
chr3 GH03I190024 190024598 190025874 0.69 [{'connected_gene': 'P3H2', 'score': 7.62}, {'connected_gene': 'MTAPP2', 'score': 0.22}, {'connected_gene': 'GC03P190094', 'score': 0.2}]
chr3 GH03I190031 190031907 190032867 0.86 [{'connected_gene': 'P3H2', 'score': 18.33}, {'connected_gene': 'GC03P190094', 'score': 0.21}, {'connected_gene': 'MTAPP2', 'score': 0.21}]
chr3 GH03I190100 190100647 190103404 0.74 [{'connected_gene': 'P3H2', 'score': 12.42}, {'connected_gene': 'GC03P190094', 'score': 0.44}, {'connected_gene': 'GC03P190113', 'score': 0.39}]
chr3 GH03I190343 190343857 190347575 1.6 [{'connected_gene': 'CLDN16', 'score': 32.6}, {'connected_gene': 'CLDN1', 'score': 29.26}, {'connected_gene': 'P3H2', 'score': 1.69}, {'connected_gene': 'TMEM207', 'score': 0.15}]
chr3 GH03I189962 189962572 189962721 0.2 [{'connected_gene': 'P3H2-AS1', 'score': 10.7}, {'connected_gene': 'P3H2', 'score': 10.7}, {'connected_gene': 'CLDN1', 'score': 10.46}, {'connected_gene': 'CLDN16', 'score': 10.46}, {'connected_gene': 'MTAPP2', 'score': 0.44}, {'connected_gene': 'MIR944', 'score': 0.12}]
chr3 GH03I190053 190053888 190055182 0.97 [{'connected_gene': 'P3H2-AS1', 'score': 11.23}, {'connected_gene': 'P3H2', 'score': 11.23}, {'connected_gene': 'CLDN1', 'score': 9.7}, {'connected_gene': 'CLDN16', 'score': 9.7}, {'connected_gene': 'GC03P190094', 'score': 0.28}, {'connected_gene': 'MTAPP2', 'score': 0.18}]
chr3 GH03I190085 190085952 190086546 0.46 [{'connected_gene': 'P3H2-AS1', 'score': 10.86}, {'connected_gene': 'P3H2', 'score': 10.84}, {'connected_gene': 'CLDN1', 'score': 9.54}, {'connected_gene': 'CLDN16', 'score': 9.54}, {'connected_gene': 'GC03P190094', 'score': 0.44}, {'connected_gene': 'MTAPP2', 'score': 0.13}]
chr3 GH03I190130 190130093 190131621 0.71 [{'connected_gene': 'P3H2-AS1', 'score': 9.23}, {'connected_gene': 'P3H2', 'score': 7.34}, {'connected_gene': 'RNU6-1109P', 'score': 0.29}, {'connected_gene': 'GC03M190166', 'score': 0.29}]
chr3 GH03I190074 190074952 190075101 0.2 [{'connected_gene': 'P3H2-AS1', 'score': 11.13}, {'connected_gene': 'P3H2', 'score': 11.13}, {'connected_gene': 'GC03P190094', 'score': 0.37}, {'connected_gene': 'MTAPP2', 'score': 0.14}]
chr3 GH03I190098 190098754 190100033 0.31 [{'connected_gene': 'P3H2-AS1', 'score': 11.69}, {'connected_gene': 'P3H2', 'score': 11.69}, {'connected_gene': 'GC03P190094', 'score': 0.44}, {'connected_gene': 'GC03P190113', 'score': 0.39}]
chr3 GH03I189980 189980896 189983645 1.08 [{'connected_gene': 'MTAPP2', 'score': 0.39}, {'connected_gene': 'GC03P190094', 'score': 0.14}, {'connected_gene': 'P3H2', 'score': 0.11}]
chr3 GH03I189913 189913219 189917040 1.3 [{'connected_gene': 'MIR944', 'score': 10.09}, {'connected_gene': 'P3H2', 'score': 4.74}, {'connected_gene': 'TP63', 'score': 3.01}, {'connected_gene': 'MTAPP2', 'score': 0.23}]
chr3 GH03I189896 189896181 189897231 0.31 [{'connected_gene': 'MIR944', 'score': 10.0}, {'connected_gene': 'P3H2', 'score': 5.13}, {'connected_gene': 'MTAPP2', 'score': 0.19}, {'connected_gene': 'TP63', 'score': 0.05}]
chr3 GH03I190095 190095897 190098076 0.64 [{'connected_gene': 'GC03P190094', 'score': 0.77}, {'connected_gene': 'GC03P190113', 'score': 0.37}, {'connected_gene': 'P3H2', 'score': 0.31}]
chr3 GH03I190091 190091630 190095272 0.76 [{'connected_gene': 'GC03P190094', 'score': 550.77}, {'connected_gene': 'P3H2-AS1', 'score': 12.15}, {'connected_gene': 'P3H2', 'score': 12.15}, {'connected_gene': 'MTAPP2', 'score': 0.13}]

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