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
ENST00000312521 [[23986750, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24022109]] [[23987069, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24018910]]
ENST00000383773 [[23986865, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24004714, 24004821], [24006467, 24006653], [24009303, 24009514], [24018713, 24019988]] [[23987069, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24004714, 24004795]]
ENST00000492552 [[23987611, 23987744], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24019034]] None
ENST00000468700 [[23996116, 23996294], [23997527, 23997616], [24001161, 24001415], [24003467, 24003825]] None
ENST00000472780 [[24006254, 24006653], [24009303, 24009504]] None
NM_005126 [[23986750, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24022109]] [[23987069, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24018910]]
NR_110524 [[23986750, 23987085], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24004714, 24004821], [24006467, 24006653], [24009303, 24009514], [24018713, 24022109]] None
NM_001145425 [[23987611, 23987744], [23996027, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24022109]] [[23996236, 23996294], [23997527, 23997616], [24001161, 24001306], [24003467, 24004096], [24006467, 24006653], [24009303, 24009514], [24018713, 24018910]]
Promoter
Chrom Start End Description
chr3 23986748 23986761 CAGE_peak_3_at_NR1D2_5end
chr3 23986762 23986821 CAGE_peak_1_at_NR1D2_5end
chr3 23986824 23986848 CAGE_peak_2_at_NR1D2_5end
chr3 23986876 23986885 CAGE_peak_4_at_NR1D2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I024237 24237512 24239304 1.32 [{'connected_gene': 'NR1D2', 'score': 12.34}, {'connected_gene': 'RPL15', 'score': 9.75}, {'connected_gene': 'LOC101927854', 'score': 0.17}, {'connected_gene': 'GC03M024338', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I023968 23968550 23968659 0.6 [{'connected_gene': 'NR1D2', 'score': 12.18}, {'connected_gene': 'NKIRAS1', 'score': 12.18}, {'connected_gene': 'RPL15', 'score': 11.46}, {'connected_gene': 'NPM1P23', 'score': 0.13}]
chr3 GH03I023999 23999200 23999401 0.78 [{'connected_gene': 'NR1D2', 'score': 11.23}, {'connected_gene': 'NKIRAS1', 'score': 11.23}, {'connected_gene': 'RPL15', 'score': 10.49}, {'connected_gene': 'NPM1P23', 'score': 0.15}]
chr3 GH03I023945 23944118 23944119 0.54 [{'connected_gene': 'NR1D2', 'score': 550.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'RPL15', 'score': 0.31}]
chr3 GH03I023944 23944359 23948967 2.11 [{'connected_gene': 'NR1D2', 'score': 561.37}, {'connected_gene': 'NKIRAS1', 'score': 550.77}, {'connected_gene': 'NPM1P23', 'score': 0.1}]
chr3 GH03I023738 23738734 23742276 1.39 [{'connected_gene': 'UBE2E1', 'score': 14.89}, {'connected_gene': 'UBE2E1-AS1', 'score': 12.04}, {'connected_gene': 'NR1D2', 'score': 2.34}, {'connected_gene': 'GC03M023675', 'score': 0.23}]
chr3 GH03I023963 23963004 23964448 0.7 [{'connected_gene': 'RPL15', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 0.37}, {'connected_gene': 'NKIRAS1', 'score': 0.37}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023952 23952750 23952899 0.65 [{'connected_gene': 'RPL15', 'score': 11.71}, {'connected_gene': 'NR1D2', 'score': 0.44}, {'connected_gene': 'NKIRAS1', 'score': 0.44}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023949 23949414 23950898 0.82 [{'connected_gene': 'RPL15', 'score': 11.73}, {'connected_gene': 'NR1D2', 'score': 0.77}, {'connected_gene': 'NKIRAS1', 'score': 0.77}, {'connected_gene': 'NPM1P23', 'score': 0.11}]
chr3 GH03I023958 23958027 23960257 1 [{'connected_gene': 'RPL15', 'score': 11.51}, {'connected_gene': 'NR1D2', 'score': 0.39}, {'connected_gene': 'NKIRAS1', 'score': 0.39}, {'connected_gene': 'NPM1P23', 'score': 0.12}]
chr3 GH03I023923 23923950 23924139 0.78 [{'connected_gene': 'RPL15', 'score': 0.44}, {'connected_gene': 'NR1D2', 'score': 0.34}, {'connected_gene': 'NKIRAS1', 'score': 0.34}]
chr3 GH03I023888 23888730 23888859 0.6 [{'connected_gene': 'RPL15', 'score': 13.4}, {'connected_gene': 'NKIRAS1', 'score': 13.31}, {'connected_gene': 'NR1D2', 'score': 11.03}, {'connected_gene': 'UBE2E1-AS1', 'score': 10.39}, {'connected_gene': 'UBE2E1', 'score': 10.39}, {'connected_gene': 'PIR33503', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.44}]
chr3 GH03I023826 23826201 23826600 0.63 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.34}]
chr3 GH03I023825 23825201 23825600 0.43 [{'connected_gene': 'RPL15', 'score': 11.02}, {'connected_gene': 'NKIRAS1', 'score': 10.99}, {'connected_gene': 'NR1D2', 'score': 10.55}, {'connected_gene': 'GC03P023841', 'score': 0.37}, {'connected_gene': 'UBE2E1-AS1', 'score': 0.37}, {'connected_gene': 'UBE2E1', 'score': 0.37}]
chr3 GH03I023873 23873970 23875091 0.69 [{'connected_gene': 'RPL15', 'score': 11.54}, {'connected_gene': 'NKIRAS1', 'score': 11.47}, {'connected_gene': 'NR1D2', 'score': 11.17}, {'connected_gene': 'ARL4AP4', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.2}]
chr3 GH03I023864 23864754 23866819 0.91 [{'connected_gene': 'RPL15', 'score': 11.8}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.12}, {'connected_gene': 'UBE2E1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 11.06}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'ARL4AP4', 'score': 0.39}]
chr3 GH03I023858 23858816 23860473 0.43 [{'connected_gene': 'RPL15', 'score': 11.79}, {'connected_gene': 'NKIRAS1', 'score': 11.74}, {'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'NR1D2', 'score': 11.04}, {'connected_gene': 'GC03M023860', 'score': 0.77}, {'connected_gene': 'GC03P023854', 'score': 0.44}]
chr3 GH03I024160 24160559 24163340 0.56 [{'connected_gene': 'NKIRAS1', 'score': 9.61}, {'connected_gene': 'NR1D2', 'score': 9.51}, {'connected_gene': 'LOC101927854', 'score': 0.39}, {'connected_gene': 'GC03M024338', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I023915 23915171 23919257 2.14 [{'connected_gene': 'NKIRAS1', 'score': 563.1}, {'connected_gene': 'RPL15', 'score': 550.77}, {'connected_gene': 'NR1D2', 'score': 13.1}]
chr3 GH03I023829 23829298 23830399 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 12.33}, {'connected_gene': 'UBE2E1', 'score': 12.33}, {'connected_gene': 'NR1D2', 'score': 11.42}, {'connected_gene': 'NKIRAS1', 'score': 11.42}, {'connected_gene': 'RPL15', 'score': 11.16}, {'connected_gene': 'GC03P023841', 'score': 0.39}]
chr3 GH03I023856 23856286 23858273 0.96 [{'connected_gene': 'UBE2E1-AS1', 'score': 11.24}, {'connected_gene': 'UBE2E1', 'score': 11.24}, {'connected_gene': 'RPL15', 'score': 11.17}, {'connected_gene': 'NKIRAS1', 'score': 11.12}, {'connected_gene': 'NR1D2', 'score': 10.85}, {'connected_gene': 'GC03P023854', 'score': 0.77}, {'connected_gene': 'GC03M023860', 'score': 0.77}]
chr3 GH03I023805 23805357 23812256 2.05 [{'connected_gene': 'UBE2E1-AS1', 'score': 550.77}, {'connected_gene': 'UBE2E1', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 23.15}, {'connected_gene': 'NKIRAS1', 'score': 10.52}, {'connected_gene': 'NR1D2', 'score': 10.12}, {'connected_gene': 'GC03P023841', 'score': 0.29}]
chr3 GH03I023880 23880823 23881220 0.31 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.19}, {'connected_gene': 'PIR33503', 'score': 0.39}, {'connected_gene': 'UBE2E1', 'score': 0.18}]
chr3 GH03I023876 23876732 23878291 0.84 [{'connected_gene': 'ARL4AP4', 'score': 550.77}, {'connected_gene': 'UBE2E1-AS1', 'score': 12.43}, {'connected_gene': 'UBE2E1', 'score': 12.43}, {'connected_gene': 'RPL15', 'score': 11.76}, {'connected_gene': 'NKIRAS1', 'score': 11.69}, {'connected_gene': 'NR1D2', 'score': 11.18}, {'connected_gene': 'GC03M023860', 'score': 0.37}]