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
ENST00000302907 [[54704609, 54704756], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
ENST00000484121 [[54704676, 54704756], [54705027, 54705149], [54705354, 54705477], [54710143, 54710715]] None
ENST00000448962 [[54704725, 54704756], [54705027, 54705149], [54705354, 54705477], [54735616, 54735812], [54750950, 54752862]] [[54705052, 54705149], [54705354, 54705477], [54735616, 54735630]]
ENST00000436445 [[54704738, 54704761], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710592], [54711265, 54711390]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710433]]
ENST00000445961 [[54704739, 54704829], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710592], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710433]]
ENST00000391752 [[54704739, 54704829], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
ENST00000402367 [[54704739, 54704829], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710433]]
ENST00000391751 [[54704741, 54704756], [54705027, 54705149], [54705354, 54705477], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54711265, 54711285]]
ENST00000495002 [[54704746, 54704761], [54705027, 54705149], [54705354, 54705477], [54710143, 54710592], [54711265, 54711512]] None
ENST00000391753 [[54705000, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
ENST00000460761 [[54705027, 54705149], [54705354, 54705876]] None
ENST00000441429 [[54705027, 54705149], [54705354, 54705477], [54710143, 54711498]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710394]]
NM_001321704 [[54704725, 54704756], [54705033, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
NM_001321705 [[54704725, 54704756], [54705027, 54705149], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54710143, 54710330], [54711265, 54711443]]
NM_001321706 [[54704725, 54704756], [54705027, 54705149], [54705354, 54705477], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54711265, 54711285]]
NM_001013 [[54704725, 54704756], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
NR_135763 [[54704725, 54704756], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710592], [54711265, 54711515]] None
NM_001321701 [[54704725, 54704761], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
NR_135762 [[54704725, 54704761], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54710420, 54710592], [54711265, 54711515]] None
NM_001321702 [[54704761, 54704829], [54705027, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711515]] [[54705052, 54705149], [54705354, 54705477], [54710143, 54710330], [54711265, 54711443]]
Promoter
Chrom Start End Description
chr19 54704677 54704683 CAGE_peak_4_at_RPS9_5end
chr19 54704688 54704693 CAGE_peak_3_at_RPS9_5end
chr19 54704718 54704735 CAGE_peak_1_at_RPS9_5end
chr19 54704990 54705024 CAGE_peak_2_at_RPS9_5end
chr19 54705025 54705034 CAGE_peak_7_at_RPS9_5end
chr19 54711608 54711620 CAGE_peak_10_at_RPS9_5end
chr19 54711626 54711656 CAGE_peak_8_at_RPS9_5end
chr19 54711890 54711897 CAGE_peak_16_at_RPS9_5end
chr19 54711907 54711930 CAGE_peak_5_at_RPS9_5end
chr19 54711974 54711985 CAGE_peak_9_at_RPS9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I054459 54459659 54474387 2.73 [{'connected_gene': 'LENG9', 'score': 564.79}, {'connected_gene': 'CDC42EP5', 'score': 561.21}, {'connected_gene': 'LENG8-AS1', 'score': 25.84}, {'connected_gene': 'LENG8', 'score': 17.55}, {'connected_gene': 'ENSG00000267838', 'score': 17.43}, {'connected_gene': 'ENSG00000235681', 'score': 17.13}, {'connected_gene': 'CNOT3', 'score': 15.69}, {'connected_gene': 'TPM3P6', 'score': 13.26}, {'connected_gene': 'TTYH1', 'score': 11.29}, {'connected_gene': 'PRPF31', 'score': 11.01}, {'connected_gene': 'ENSG00000237017', 'score': 10.01}, {'connected_gene': 'RPS9', 'score': 9.83}, {'connected_gene': 'LILRB4', 'score': 4.91}, {'connected_gene': 'NLRP2', 'score': 4.88}, {'connected_gene': 'GC19P054461', 'score': 0.44}]
chr19 GH19I054240 54240601 54244400 0.43 [{'connected_gene': 'LILRA6', 'score': 556.5}, {'connected_gene': 'LILRP1', 'score': 8.26}, {'connected_gene': 'LILRB5', 'score': 6.54}, {'connected_gene': 'RPS9', 'score': 6.54}, {'connected_gene': 'ENSG00000235081', 'score': 0.39}]
chr19 GH19I054231 54231528 54232117 1.13 [{'connected_gene': 'LILRA6', 'score': 7.1}, {'connected_gene': 'ENSG00000235081', 'score': 0.77}, {'connected_gene': 'RPS9', 'score': 0.29}]
chr19 GH19I054018 54017723 54024511 1.42 [{'connected_gene': 'LILRB3', 'score': 15.41}, {'connected_gene': 'ENSG00000269288', 'score': 12.99}, {'connected_gene': 'ZNF415', 'score': 12.74}, {'connected_gene': 'VSTM1', 'score': 12.18}, {'connected_gene': 'LILRA5', 'score': 11.74}, {'connected_gene': 'OSCAR', 'score': 11.72}, {'connected_gene': 'VN1R103P', 'score': 11.64}, {'connected_gene': 'MYADM', 'score': 11.07}, {'connected_gene': 'LILRB2', 'score': 10.86}, {'connected_gene': 'NLRP12', 'score': 10.34}, {'connected_gene': 'LAIR1', 'score': 8.92}, {'connected_gene': 'CACNG8', 'score': 8.78}, {'connected_gene': 'LILRA6', 'score': 3.55}, {'connected_gene': 'MBOAT7', 'score': 1.92}, {'connected_gene': 'LAIR2', 'score': 1.8}, {'connected_gene': 'ZNF331', 'score': 1.77}, {'connected_gene': 'LENG8', 'score': 1.58}, {'connected_gene': 'RPS9', 'score': 1.4}, {'connected_gene': 'TARM1', 'score': 1.29}, {'connected_gene': 'ENSG00000276206', 'score': 0.39}, {'connected_gene': 'CACNG6', 'score': 0.31}]
chr19 GH19I054158 54158209 54161303 1.55 [{'connected_gene': 'LENG1', 'score': 576.17}, {'connected_gene': 'CNOT3', 'score': 37.84}, {'connected_gene': 'TMC4', 'score': 36.8}, {'connected_gene': 'PRPF31', 'score': 25.46}, {'connected_gene': 'LENG8-AS1', 'score': 25.17}, {'connected_gene': 'ZNF765', 'score': 24.4}, {'connected_gene': 'LENG8', 'score': 20.25}, {'connected_gene': 'ENSG00000235681', 'score': 17.16}, {'connected_gene': 'ENSG00000269001', 'score': 17.16}, {'connected_gene': 'ZNF845', 'score': 17.11}, {'connected_gene': 'TPM3P6', 'score': 14.94}, {'connected_gene': 'ZNF761', 'score': 13.65}, {'connected_gene': 'ZNF525', 'score': 12.68}, {'connected_gene': 'ENSG00000237017', 'score': 12.12}, {'connected_gene': 'ZNF665', 'score': 11.87}, {'connected_gene': 'TPM3P9', 'score': 11.58}, {'connected_gene': 'ENSG00000223660', 'score': 11.05}, {'connected_gene': 'RPS9', 'score': 11.05}, {'connected_gene': 'ZNF347', 'score': 10.61}, {'connected_gene': 'LOC102724273', 'score': 0.44}]
chr19 GH19I054199 54199643 54211777 2.67 [{'connected_gene': 'RPS9', 'score': 576.98}, {'connected_gene': 'PRPF31', 'score': 83.39}, {'connected_gene': 'LENG8', 'score': 76.91}, {'connected_gene': 'LENG8-AS1', 'score': 70.73}, {'connected_gene': 'CNOT3', 'score': 67.81}, {'connected_gene': 'ZNF525', 'score': 63.2}, {'connected_gene': 'ZNF845', 'score': 52.51}, {'connected_gene': 'ENSG00000235681', 'score': 52.44}, {'connected_gene': 'LILRB5', 'score': 41.54}, {'connected_gene': 'ZNF765', 'score': 41.36}, {'connected_gene': 'ZNF761', 'score': 40.82}, {'connected_gene': 'TPM3P6', 'score': 32.66}, {'connected_gene': 'LILRB3', 'score': 22.38}, {'connected_gene': 'LILRA6', 'score': 22.37}, {'connected_gene': 'TPM3P9', 'score': 21.81}, {'connected_gene': 'ZNF677', 'score': 21.27}, {'connected_gene': 'LENG1', 'score': 21.09}, {'connected_gene': 'LILRA2', 'score': 19.95}, {'connected_gene': 'ENSG00000267838', 'score': 18.98}, {'connected_gene': 'MYADM', 'score': 16.9}, {'connected_gene': 'LILRA4', 'score': 15.14}, {'connected_gene': 'VSTM1', 'score': 13.45}, {'connected_gene': 'LILRA5', 'score': 12.73}, {'connected_gene': 'ENSG00000249189', 'score': 12.34}, {'connected_gene': 'TMC4', 'score': 12.22}, {'connected_gene': 'TSEN34', 'score': 12.14}, {'connected_gene': 'ZNF813', 'score': 10.04}, {'connected_gene': 'NLRP12', 'score': 9.94}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'PPP1R12C', 'score': 9.65}, {'connected_gene': 'LILRA1', 'score': 9.52}, {'connected_gene': 'MBOAT7', 'score': 9.27}, {'connected_gene': 'LILRP1', 'score': 8.68}, {'connected_gene': 'LILRB2', 'score': 8.22}, {'connected_gene': 'OSCAR', 'score': 8.08}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LAIR1', 'score': 3.17}, {'connected_gene': 'LILRB4', 'score': 2.67}, {'connected_gene': 'TARM1', 'score': 1.32}, {'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'ENSG00000223660', 'score': 0.44}]
chr19 GH19I054136 54136079 54140272 2 [{'connected_gene': 'CNOT3', 'score': 578.5}, {'connected_gene': 'GC19P054140', 'score': 550.77}, {'connected_gene': 'GC19P054141', 'score': 550.77}, {'connected_gene': 'TMC4', 'score': 36.1}, {'connected_gene': 'ZNF765', 'score': 22.88}, {'connected_gene': 'LENG1', 'score': 21.86}, {'connected_gene': 'LENG8-AS1', 'score': 20.75}, {'connected_gene': 'PRPF31', 'score': 16.53}, {'connected_gene': 'ZNF525', 'score': 16.31}, {'connected_gene': 'ZNF845', 'score': 14.01}, {'connected_gene': 'LENG8', 'score': 13.39}, {'connected_gene': 'ENSG00000223660', 'score': 11.58}, {'connected_gene': 'RPS9', 'score': 11.58}, {'connected_gene': 'ENSG00000269001', 'score': 11.5}, {'connected_gene': 'TPM3P6', 'score': 10.8}, {'connected_gene': 'ZNF761', 'score': 10.23}, {'connected_gene': 'ENSG00000235681', 'score': 10.04}, {'connected_gene': 'NDUFA3', 'score': 7.03}]
chr19 GH19I054270 54270801 54273000 1.1 [{'connected_gene': 'LAIR1', 'score': 20.7}, {'connected_gene': 'LILRB2', 'score': 15.89}, {'connected_gene': 'OSCAR', 'score': 13.96}, {'connected_gene': 'MYADM', 'score': 11.24}, {'connected_gene': 'LILRB3', 'score': 8.65}, {'connected_gene': 'LILRB1', 'score': 8.56}, {'connected_gene': 'LILRA5', 'score': 8.1}, {'connected_gene': 'VSTM1', 'score': 7.85}, {'connected_gene': 'LILRB4', 'score': 6.31}, {'connected_gene': 'NLRP12', 'score': 4.44}, {'connected_gene': 'LILRA1', 'score': 4.23}, {'connected_gene': 'LILRA2', 'score': 4.17}, {'connected_gene': 'LAIR2', 'score': 2.77}, {'connected_gene': 'TARM1', 'score': 1.89}, {'connected_gene': 'LENG8', 'score': 1.86}, {'connected_gene': 'RPS9', 'score': 1.28}, {'connected_gene': 'LOC100420187', 'score': 0.77}]
chr19 GH19I055166 55166000 55167850 2.04 [{'connected_gene': 'DNAAF3', 'score': 570.67}, {'connected_gene': 'ENSG00000239137', 'score': 550.77}, {'connected_gene': 'U2AF2', 'score': 21.76}, {'connected_gene': 'ZNF628', 'score': 20.68}, {'connected_gene': 'ZNF581', 'score': 18.93}, {'connected_gene': 'LENG8', 'score': 17.21}, {'connected_gene': 'ENSG00000235681', 'score': 16.81}, {'connected_gene': 'ENSG00000267523', 'score': 14.82}, {'connected_gene': 'LENG8-AS1', 'score': 14.63}, {'connected_gene': 'ENSG00000267096', 'score': 9.87}, {'connected_gene': 'RPS9', 'score': 9.79}, {'connected_gene': 'TNNI3', 'score': 8.07}, {'connected_gene': 'TNNT1', 'score': 6.75}, {'connected_gene': 'LOC101930593', 'score': 0.44}]
chr19 GH19I053559 53559267 53559356 0.52 [{'connected_gene': 'ZNF600', 'score': 18.19}, {'connected_gene': 'ZNF845', 'score': 17.96}, {'connected_gene': 'LENG8', 'score': 17.21}, {'connected_gene': 'ENSG00000235681', 'score': 16.81}, {'connected_gene': 'CNOT3', 'score': 15.67}, {'connected_gene': 'ZNF816', 'score': 15.11}, {'connected_gene': 'ENSG00000269001', 'score': 14.65}, {'connected_gene': 'LENG8-AS1', 'score': 14.63}, {'connected_gene': 'ZNF160', 'score': 14.39}, {'connected_gene': 'ZNF765', 'score': 14.25}, {'connected_gene': 'ZNF468', 'score': 14.24}, {'connected_gene': 'TPM3P6', 'score': 13.41}, {'connected_gene': 'ZNF525', 'score': 13.36}, {'connected_gene': 'ZNF137P', 'score': 12.77}, {'connected_gene': 'ZNF761', 'score': 12.6}, {'connected_gene': 'ENSG00000269825', 'score': 12.42}, {'connected_gene': 'ENSG00000268970', 'score': 12.19}, {'connected_gene': 'ZNF665', 'score': 11.68}, {'connected_gene': 'MIR519B', 'score': 11.51}, {'connected_gene': 'MIR526B', 'score': 11.51}, {'connected_gene': 'MIR525', 'score': 11.51}, {'connected_gene': 'MIR520A', 'score': 11.51}, {'connected_gene': 'MIR526A1', 'score': 11.5}, {'connected_gene': 'MIR520C', 'score': 11.5}, {'connected_gene': 'MIR518B', 'score': 11.5}, {'connected_gene': 'MIR520B', 'score': 11.5}, {'connected_gene': 'MIR518F', 'score': 11.5}, {'connected_gene': 'MIR519D', 'score': 11.5}, {'connected_gene': 'MIR517A', 'score': 11.5}, {'connected_gene': 'MIR521-2', 'score': 11.5}, {'connected_gene': 'RNU6-803P', 'score': 11.5}, {'connected_gene': 'MIR516B2', 'score': 11.49}, {'connected_gene': 'MIR526A2', 'score': 11.49}, {'connected_gene': 'MIR520G', 'score': 11.49}, {'connected_gene': 'MIR517B', 'score': 11.49}, {'connected_gene': 'MIR520D', 'score': 11.49}, {'connected_gene': 'MIR516B1', 'score': 11.49}, {'connected_gene': 'RNU6-980P', 'score': 11.49}, {'connected_gene': 'MIR518E', 'score': 11.49}, {'connected_gene': 'MIR518A1', 'score': 11.49}, {'connected_gene': 'MIR518A2', 'score': 11.48}, {'connected_gene': 'MIR517C', 'score': 11.48}, {'connected_gene': 'MIR520H', 'score': 11.48}, {'connected_gene': 'MIR521-1', 'score': 11.48}, {'connected_gene': 'RNU6-982P', 'score': 11.48}, {'connected_gene': 'RNU6-751P', 'score': 11.48}, {'connected_gene': 'MIR519A1', 'score': 11.48}, {'connected_gene': 'MIR527', 'score': 11.48}, {'connected_gene': 'MIR1283-2', 'score': 11.47}, {'connected_gene': 'MIR516A1', 'score': 11.47}, {'connected_gene': 'RNU6-1041P', 'score': 11.47}, {'connected_gene': 'MIR516A2', 'score': 11.47}, {'connected_gene': 'DPRX', 'score': 11.23}, {'connected_gene': 'RN7SL317P', 'score': 11.16}, {'connected_gene': 'PRPF31', 'score': 10.99}, {'connected_gene': 'RNU6-698P', 'score': 10.64}, {'connected_gene': 'ZNF347', 'score': 10.48}, {'connected_gene': 'ZNF28', 'score': 9.96}, {'connected_gene': 'RPS9', 'score': 9.79}, {'connected_gene': 'ENSG00000274892', 'score': 0.25}, {'connected_gene': 'ZNF331', 'score': 0.22}]
chr19 GH19I054161 54161905 54163300 1.19 [{'connected_gene': 'TMC4', 'score': 34.0}, {'connected_gene': 'CNOT3', 'score': 12.17}, {'connected_gene': 'ENSG00000237017', 'score': 12.11}, {'connected_gene': 'PRPF31', 'score': 12.08}, {'connected_gene': 'ENSG00000223660', 'score': 11.07}, {'connected_gene': 'RPS9', 'score': 11.07}, {'connected_gene': 'NDUFA3', 'score': 5.9}, {'connected_gene': 'LENG1', 'score': 0.77}]
chr19 GH19I054251 54251999 54253703 0.54 [{'connected_gene': 'LILRB5', 'score': 12.37}, {'connected_gene': 'RPS9', 'score': 6.55}, {'connected_gene': 'GC19M054332', 'score': 0.77}]
chr19 GH19I054282 54282402 54283496 1.11 [{'connected_gene': 'LILRB2', 'score': 557.78}, {'connected_gene': 'MIR4752', 'score': 550.77}, {'connected_gene': 'LILRB3', 'score': 19.4}, {'connected_gene': 'LAIR1', 'score': 16.54}, {'connected_gene': 'LILRA6', 'score': 14.32}, {'connected_gene': 'LILRB5', 'score': 12.83}, {'connected_gene': 'ENSG00000249189', 'score': 12.8}, {'connected_gene': 'OSCAR', 'score': 10.39}, {'connected_gene': 'MYADM', 'score': 9.9}, {'connected_gene': 'VSTM1', 'score': 6.67}, {'connected_gene': 'LILRB1', 'score': 6.37}, {'connected_gene': 'LILRA5', 'score': 6.22}, {'connected_gene': 'LILRB4', 'score': 5.39}, {'connected_gene': 'RPS9', 'score': 5.12}, {'connected_gene': 'LILRA2', 'score': 4.35}, {'connected_gene': 'NLRP12', 'score': 4.33}, {'connected_gene': 'LILRA1', 'score': 4.01}, {'connected_gene': 'LAIR2', 'score': 2.77}, {'connected_gene': 'LENG8', 'score': 1.8}, {'connected_gene': 'ENSG00000240197', 'score': 0.39}]
chr19 GH19I054247 54247201 54248788 0.94 [{'connected_gene': 'ENSG00000249189', 'score': 550.77}, {'connected_gene': 'LILRA6', 'score': 8.89}, {'connected_gene': 'LILRA4', 'score': 8.1}, {'connected_gene': 'GC19M054332', 'score': 0.77}, {'connected_gene': 'RPS9', 'score': 0.25}]
chr19 GH19I054220 54220801 54224600 0.88 [{'connected_gene': 'ENSG00000269524', 'score': 550.77}, {'connected_gene': 'LILRB3', 'score': 550.77}, {'connected_gene': 'LILRA4', 'score': 15.39}, {'connected_gene': 'LILRB5', 'score': 9.81}, {'connected_gene': 'RPS9', 'score': 6.3}, {'connected_gene': 'LILRA6', 'score': 5.76}, {'connected_gene': 'ENSG00000224579', 'score': 0.39}]
chr19 GH19I054212 54212201 54212400 0.2 [{'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'RPS9', 'score': 0.39}, {'connected_gene': 'LILRB3', 'score': 0.39}]
chr19 GH19I054140 54140567 54143347 0.38 [{'connected_gene': 'GC19P054140', 'score': 550.77}, {'connected_gene': 'GC19P054141', 'score': 550.77}, {'connected_gene': 'TMC4', 'score': 39.14}, {'connected_gene': 'ENSG00000223660', 'score': 11.59}, {'connected_gene': 'RPS9', 'score': 11.59}, {'connected_gene': 'CNOT3', 'score': 0.77}, {'connected_gene': 'LOC102724273', 'score': 0.39}]

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