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
ENST00000409257 [[76183397, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201819], [76202026, 76202131], [76202991, 76203782]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201819], [76202026, 76202131], [76202991, 76203018]]
ENST00000591256 [[76183438, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76201132]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76201132]]
ENST00000589256 [[76183442, 76183514], [76187050, 76187141], [76193226, 76193641]] [[76183451, 76183514], [76187050, 76187141], [76193226, 76193246]]
ENST00000592988 [[76183442, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76200120]] None
ENST00000589107 [[76183442, 76183514], [76187050, 76187141], [76188717, 76188866], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200933]] [[76183451, 76183514], [76187050, 76187141], [76188717, 76188746]]
ENST00000588199 [[76183442, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76201520, 76201599], [76202026, 76202131], [76202991, 76203268]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76201520, 76201548]]
ENST00000588800 [[76183442, 76183514], [76187050, 76187141], [76198783, 76198832], [76202026, 76202131], [76202991, 76203321]] [[76183451, 76183514], [76187050, 76187141], [76198783, 76198832], [76202026, 76202105]]
ENST00000591952 [[76183442, 76183514], [76187050, 76187141], [76202991, 76203410]] [[76183451, 76183514], [76187050, 76187141], [76202991, 76203092]]
ENST00000327898 [[76183442, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201834], [76202026, 76202131], [76202991, 76203782]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201834], [76202026, 76202131], [76202991, 76203018]]
ENST00000586542 [[76183444, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200908, 76201162]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200908, 76201162]]
ENST00000586731 [[76183481, 76183514], [76187050, 76187141], [76193215, 76193641]] [[76183502, 76183514], [76187050, 76187141], [76193215, 76193226]]
ENST00000591538 [[76186791, 76187141], [76198579, 76198684], [76198783, 76198815]] None
ENST00000587750 [[76198589, 76198684], [76198783, 76198832], [76202026, 76202131], [76202991, 76203283]] None
ENST00000589664 [[76198652, 76198684], [76198783, 76198832], [76200908, 76200981], [76202026, 76202131], [76202991, 76203486]] None
ENST00000585419 [[76198801, 76198832], [76201520, 76201599], [76201683, 76201819], [76202026, 76202131], [76202991, 76203133]] None
NR_027083 [[76183397, 76183514], [76187050, 76187141], [76193226, 76193641]] None
NM_001010982 [[76183397, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201819], [76202026, 76202131], [76202991, 76203782]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201819], [76202026, 76202131], [76202991, 76203018]]
NM_001145526 [[76183397, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201834], [76202026, 76202131], [76202991, 76203782]] [[76183451, 76183514], [76187050, 76187141], [76198579, 76198684], [76198783, 76198832], [76200736, 76200822], [76200908, 76200981], [76201173, 76201271], [76201520, 76201599], [76201683, 76201834], [76202026, 76202131], [76202991, 76203018]]
Promoter
Chrom Start End Description
chr17 76183408 76183414 CAGE_peak_2_at_AFMID_5end
chr17 76183432 76183451 CAGE_peak_1_at_AFMID_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I078421 78421049 78422749 1.22 [{'connected_gene': 'PGS1', 'score': 24.54}, {'connected_gene': 'ENSG00000200063', 'score': 12.5}, {'connected_gene': 'SOCS3', 'score': 12.41}, {'connected_gene': 'DNAH17', 'score': 11.7}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.47}, {'connected_gene': 'TK1', 'score': 10.24}, {'connected_gene': 'AFMID', 'score': 10.24}, {'connected_gene': 'RNU6-638P', 'score': 10.08}, {'connected_gene': 'GC17M078388', 'score': 0.37}, {'connected_gene': 'DNAH17-AS1', 'score': 0.21}]
chr17 GH17I078410 78410649 78418807 1.62 [{'connected_gene': 'PGS1', 'score': 53.33}, {'connected_gene': 'SOCS3', 'score': 25.56}, {'connected_gene': 'USP36', 'score': 20.09}, {'connected_gene': 'DNAH17', 'score': 11.39}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.47}, {'connected_gene': 'TK1', 'score': 10.24}, {'connected_gene': 'AFMID', 'score': 10.24}, {'connected_gene': 'RNU6-638P', 'score': 10.08}, {'connected_gene': 'LOC101928674', 'score': 6.22}, {'connected_gene': 'CYTH1', 'score': 1.96}, {'connected_gene': 'TMC6', 'score': 1.27}, {'connected_gene': 'GC17M078388', 'score': 0.44}, {'connected_gene': 'DNAH17-AS1', 'score': 0.19}]
chr17 GH17I078419 78419438 78421021 0.66 [{'connected_gene': 'PGS1', 'score': 24.54}, {'connected_gene': 'ENSG00000200063', 'score': 12.5}, {'connected_gene': 'SOCS3', 'score': 12.36}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.47}, {'connected_gene': 'TK1', 'score': 10.24}, {'connected_gene': 'AFMID', 'score': 10.24}, {'connected_gene': 'RNU6-638P', 'score': 10.08}, {'connected_gene': 'GC17M078388', 'score': 0.39}, {'connected_gene': 'DNAH17-AS1', 'score': 0.21}]
chr17 GH17I078197 78197151 78200553 1.38 [{'connected_gene': 'PGS1', 'score': 18.88}, {'connected_gene': 'USP36', 'score': 17.33}, {'connected_gene': 'TMEM235', 'score': 12.04}, {'connected_gene': 'SYNGR2', 'score': 11.91}, {'connected_gene': 'C17orf99', 'score': 11.85}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000200063', 'score': 10.97}, {'connected_gene': 'RNU6-625P', 'score': 10.22}, {'connected_gene': 'SEPT9', 'score': 9.72}, {'connected_gene': 'SOCS3', 'score': 3.88}, {'connected_gene': 'TMC6', 'score': 2.12}, {'connected_gene': 'TMC8', 'score': 1.31}, {'connected_gene': 'PIR53496', 'score': 0.44}, {'connected_gene': 'TK1', 'score': 0.39}, {'connected_gene': 'AFMID', 'score': 0.39}]
chr17 GH17I078136 78136606 78142857 1.43 [{'connected_gene': 'SYNGR2', 'score': 13.56}, {'connected_gene': 'TK1', 'score': 12.02}, {'connected_gene': 'AFMID', 'score': 12.02}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.9}, {'connected_gene': 'TMC8', 'score': 7.71}, {'connected_gene': 'TMC6', 'score': 6.36}, {'connected_gene': 'C17orf99', 'score': 0.44}]
chr17 GH17I078182 78182491 78182899 0.31 [{'connected_gene': 'SYNGR2', 'score': 6.46}, {'connected_gene': 'TK1', 'score': 0.77}, {'connected_gene': 'AFMID', 'score': 0.77}, {'connected_gene': 'GC17P078174', 'score': 0.39}]
chr17 GH17I078152 78152659 78156139 1.25 [{'connected_gene': 'SYNGR2', 'score': 11.58}, {'connected_gene': 'AFMID', 'score': 5.65}, {'connected_gene': 'TMC8', 'score': 1.97}, {'connected_gene': 'EIF5AP2', 'score': 0.77}, {'connected_gene': 'C17orf99', 'score': 0.44}]
chr17 GH17I078294 78294900 78295089 0.51 [{'connected_gene': 'SOCS3', 'score': 12.24}, {'connected_gene': 'PGS1', 'score': 11.9}, {'connected_gene': 'ENSG00000200063', 'score': 11.87}, {'connected_gene': 'TK1', 'score': 10.43}, {'connected_gene': 'AFMID', 'score': 10.43}, {'connected_gene': 'SYNGR2', 'score': 9.96}, {'connected_gene': 'C17orf99', 'score': 9.94}, {'connected_gene': 'LINC01993', 'score': 0.37}, {'connected_gene': 'LOC105371912', 'score': 0.34}]
chr17 GH17I078307 78307360 78310264 1.02 [{'connected_gene': 'SOCS3', 'score': 11.67}, {'connected_gene': 'PGS1', 'score': 11.37}, {'connected_gene': 'ENSG00000200063', 'score': 10.83}, {'connected_gene': 'TK1', 'score': 10.16}, {'connected_gene': 'AFMID', 'score': 10.16}, {'connected_gene': 'RNU6-638P', 'score': 9.01}, {'connected_gene': 'LOC105371912', 'score': 0.44}, {'connected_gene': 'LINC01993', 'score': 0.29}]
chr17 GH17I078051 78051509 78052858 0.54 [{'connected_gene': 'TK1', 'score': 10.71}, {'connected_gene': 'AFMID', 'score': 10.71}, {'connected_gene': 'TNRC6C', 'score': 10.19}, {'connected_gene': 'C17orf99', 'score': 9.79}, {'connected_gene': 'SYNGR2', 'score': 9.75}, {'connected_gene': 'UBE2V2P2', 'score': 0.39}, {'connected_gene': 'ENSG00000279600', 'score': 0.26}]
chr17 GH17I078189 78189201 78189400 0.2 [{'connected_gene': 'TK1', 'score': 0.77}, {'connected_gene': 'AFMID', 'score': 0.77}, {'connected_gene': 'PIR53496', 'score': 0.37}]
chr17 GH17I078192 78192740 78192889 0.31 [{'connected_gene': 'TK1', 'score': 0.44}, {'connected_gene': 'AFMID', 'score': 0.44}, {'connected_gene': 'PIR53496', 'score': 0.39}]
chr17 GH17I078094 78094582 78099339 0.2 [{'connected_gene': 'TNRC6C', 'score': 14.62}, {'connected_gene': 'AFMID', 'score': 11.68}, {'connected_gene': 'TK1', 'score': 11.67}, {'connected_gene': 'C17orf99', 'score': 11.28}, {'connected_gene': 'SYNGR2', 'score': 11.03}, {'connected_gene': 'GC17P078105', 'score': 0.44}, {'connected_gene': 'RNU6-625P', 'score': 0.29}]
chr17 GH17I078089 78089099 78090851 0.38 [{'connected_gene': 'TNRC6C', 'score': 15.36}, {'connected_gene': 'TNRC6C-AS1', 'score': 12.43}, {'connected_gene': 'TK1', 'score': 11.67}, {'connected_gene': 'AFMID', 'score': 11.67}, {'connected_gene': 'C17orf99', 'score': 11.4}, {'connected_gene': 'SYNGR2', 'score': 11.02}, {'connected_gene': 'PGS1', 'score': 10.29}, {'connected_gene': 'RNU1-80P', 'score': 9.93}, {'connected_gene': 'GC17P078105', 'score': 0.37}, {'connected_gene': 'RNU6-625P', 'score': 0.34}]
chr17 GH17I078261 78261655 78264365 1.42 [{'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'THA1P', 'score': 16.67}, {'connected_gene': 'TMEM235', 'score': 11.73}, {'connected_gene': 'SOCS3', 'score': 11.5}, {'connected_gene': 'PGS1', 'score': 11.25}, {'connected_gene': 'TK1', 'score': 10.69}, {'connected_gene': 'AFMID', 'score': 10.69}, {'connected_gene': 'ENSG00000200063', 'score': 10.55}, {'connected_gene': 'LINC01993', 'score': 0.37}]
chr17 GH17I078255 78255560 78259829 1.62 [{'connected_gene': 'THA1P', 'score': 568.17}, {'connected_gene': 'PGS1', 'score': 17.44}, {'connected_gene': 'SOCS3', 'score': 13.49}, {'connected_gene': 'TK1', 'score': 11.24}, {'connected_gene': 'AFMID', 'score': 11.24}, {'connected_gene': 'TMC8', 'score': 6.5}, {'connected_gene': 'TMC6', 'score': 5.74}, {'connected_gene': 'LINC01993', 'score': 5.5}, {'connected_gene': 'TNRC6C', 'score': 1.3}, {'connected_gene': 'C17orf99', 'score': 1.21}]
chr17 GH17I078228 78228342 78229033 0.31 [{'connected_gene': 'BIRC5', 'score': 12.6}, {'connected_gene': 'TK1', 'score': 11.68}, {'connected_gene': 'AFMID', 'score': 11.68}, {'connected_gene': 'SYNGR2', 'score': 10.99}, {'connected_gene': 'C17orf99', 'score': 10.96}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.8}, {'connected_gene': 'PGS1', 'score': 10.68}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17 GH17I078226 78226500 78228249 1.07 [{'connected_gene': 'BIRC5', 'score': 13.63}, {'connected_gene': 'TK1', 'score': 11.74}, {'connected_gene': 'AFMID', 'score': 11.74}, {'connected_gene': 'SYNGR2', 'score': 11.15}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.11}, {'connected_gene': 'C17orf99', 'score': 11.11}, {'connected_gene': 'PGS1', 'score': 10.87}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17 GH17I078260 78260460 78260609 0.69 [{'connected_gene': 'TMEM235', 'score': 11.7}, {'connected_gene': 'SOCS3', 'score': 11.5}, {'connected_gene': 'PGS1', 'score': 10.92}, {'connected_gene': 'TK1', 'score': 10.7}, {'connected_gene': 'AFMID', 'score': 10.69}, {'connected_gene': 'ENSG00000200063', 'score': 10.55}, {'connected_gene': 'THA1P', 'score': 6.13}, {'connected_gene': 'LINC01993', 'score': 0.37}]
chr17 GH17I078120 78120560 78135339 2.78 [{'connected_gene': 'TMC8', 'score': 577.84}, {'connected_gene': 'TMC6', 'score': 570.92}, {'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'SYNGR2', 'score': 12.67}, {'connected_gene': 'TK1', 'score': 11.66}, {'connected_gene': 'AFMID', 'score': 11.66}, {'connected_gene': 'TNRC6C-AS1', 'score': 7.9}, {'connected_gene': 'ENGASE', 'score': 5.38}, {'connected_gene': 'PGS1', 'score': 4.92}, {'connected_gene': 'TNRC6C', 'score': 3.97}, {'connected_gene': 'GC17M078129', 'score': 0.77}, {'connected_gene': 'GC17M078132', 'score': 0.77}]
chr17 GH17I078183 78183700 78188761 2.3 [{'connected_gene': 'AFMID', 'score': 560.11}, {'connected_gene': 'TK1', 'score': 557.31}, {'connected_gene': 'SEPT9', 'score': 13.81}, {'connected_gene': 'USP36', 'score': 12.46}, {'connected_gene': 'SYNGR2', 'score': 6.24}, {'connected_gene': 'TMEM235', 'score': 5.77}, {'connected_gene': 'GC17P078174', 'score': 0.39}]
chr17 GH17I078190 78190027 78190785 0.68 [{'connected_gene': 'AFMID', 'score': 9.99}, {'connected_gene': 'TK1', 'score': 0.77}, {'connected_gene': 'PIR53496', 'score': 0.39}]
chr17 GH17I078170 78170995 78177122 1.57 [{'connected_gene': 'AFMID', 'score': 14.35}, {'connected_gene': 'C17orf99', 'score': 12.69}, {'connected_gene': 'TNRC6C-AS1', 'score': 12.05}, {'connected_gene': 'SYNGR2', 'score': 9.26}, {'connected_gene': 'TK1', 'score': 6.46}, {'connected_gene': 'TMC6', 'score': 2.94}, {'connected_gene': 'PGS1', 'score': 1.8}, {'connected_gene': 'SOCS3', 'score': 1.31}, {'connected_gene': 'GC17P078174', 'score': 0.77}]
chr17 GH17I078043 78043552 78045455 0.52 [{'connected_gene': 'RNU6-625P', 'score': 11.69}, {'connected_gene': 'TNRC6C', 'score': 10.64}, {'connected_gene': 'TK1', 'score': 10.05}, {'connected_gene': 'AFMID', 'score': 10.05}, {'connected_gene': 'TNRC6C-AS1', 'score': 5.57}, {'connected_gene': 'UBE2V2P2', 'score': 0.34}, {'connected_gene': 'ENSG00000279600', 'score': 0.28}]
chr17 GH17I078246 78246939 78248069 0.76 [{'connected_gene': 'LOC105371910', 'score': 550.77}, {'connected_gene': 'THA1P', 'score': 18.71}, {'connected_gene': 'TK1', 'score': 11.26}, {'connected_gene': 'AFMID', 'score': 11.26}, {'connected_gene': 'TMEM235', 'score': 0.37}]
chr17 GH17I078178 78178193 78178726 0.31 [{'connected_gene': 'C17orf99', 'score': 12.67}, {'connected_gene': 'TNRC6C-AS1', 'score': 12.05}, {'connected_gene': 'GC17P078174', 'score': 0.44}, {'connected_gene': 'TK1', 'score': 0.44}, {'connected_gene': 'AFMID', 'score': 0.44}]
chr17 GH17I078179 78178838 78181112 0.94 [{'connected_gene': 'C17orf99', 'score': 11.87}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.23}, {'connected_gene': 'AFMID', 'score': 9.84}, {'connected_gene': 'SYNGR2', 'score': 5.53}, {'connected_gene': 'GC17P078174', 'score': 0.44}, {'connected_gene': 'TK1', 'score': 0.44}]
chr17 GH17I078112 78112369 78114888 1.13 [{'connected_gene': 'TNRC6C-AS1', 'score': 555.78}, {'connected_gene': 'USP36', 'score': 13.91}, {'connected_gene': 'TK1', 'score': 12.37}, {'connected_gene': 'AFMID', 'score': 12.37}, {'connected_gene': 'C17orf99', 'score': 12.28}, {'connected_gene': 'SYNGR2', 'score': 12.22}, {'connected_gene': 'RNU6-625P', 'score': 11.15}, {'connected_gene': 'GC17P078107', 'score': 0.44}, {'connected_gene': 'TMC6', 'score': 0.37}, {'connected_gene': 'TMC8', 'score': 0.37}]
chr17 GH17I078069 78069384 78071759 0.2 [{'connected_gene': 'TNRC6C-AS1', 'score': 16.49}, {'connected_gene': 'TMEM235', 'score': 10.78}, {'connected_gene': 'AFMID', 'score': 10.77}, {'connected_gene': 'TK1', 'score': 10.77}, {'connected_gene': 'TNRC6C', 'score': 10.32}, {'connected_gene': 'RNU6-625P', 'score': 0.77}, {'connected_gene': 'GC17P078105', 'score': 0.29}]
chr17 GH17I078073 78073642 78078733 0.2 [{'connected_gene': 'TNRC6C-AS1', 'score': 15.83}, {'connected_gene': 'TMEM235', 'score': 10.79}, {'connected_gene': 'AFMID', 'score': 10.78}, {'connected_gene': 'TK1', 'score': 10.77}, {'connected_gene': 'TNRC6C', 'score': 10.32}, {'connected_gene': 'RNU6-625P', 'score': 0.44}, {'connected_gene': 'GC17P078105', 'score': 0.31}]
chr17 GH17I078110 78110439 78111612 0.56 [{'connected_gene': 'TNRC6C-AS1', 'score': 550.77}, {'connected_gene': 'C17orf99', 'score': 12.27}, {'connected_gene': 'SYNGR2', 'score': 12.21}, {'connected_gene': 'AFMID', 'score': 11.54}, {'connected_gene': 'TK1', 'score': 11.53}, {'connected_gene': 'RNU6-625P', 'score': 11.17}, {'connected_gene': 'GC17P078108', 'score': 0.77}, {'connected_gene': 'GC17P078107', 'score': 0.77}, {'connected_gene': 'TMC6', 'score': 0.34}]
chr17 GH17I078058 78058588 78059839 0.86 [{'connected_gene': 'TNRC6C-AS1', 'score': 17.13}, {'connected_gene': 'C17orf99', 'score': 10.97}, {'connected_gene': 'TK1', 'score': 10.94}, {'connected_gene': 'AFMID', 'score': 10.94}, {'connected_gene': 'SYNGR2', 'score': 10.83}, {'connected_gene': 'TNRC6C', 'score': 10.75}, {'connected_gene': 'UBE2V2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000279600', 'score': 0.23}]
chr17 GH17I078250 78250500 78255229 2.09 [{'connected_gene': 'ENSG00000279886', 'score': 550.77}, {'connected_gene': 'THA1P', 'score': 27.62}, {'connected_gene': 'USP36', 'score': 13.35}, {'connected_gene': 'TMC8', 'score': 13.16}, {'connected_gene': 'SEPT9', 'score': 12.25}, {'connected_gene': 'TK1', 'score': 11.25}, {'connected_gene': 'AFMID', 'score': 11.25}, {'connected_gene': 'TMC6', 'score': 9.29}, {'connected_gene': 'TMEM235', 'score': 7.29}, {'connected_gene': 'TNRC6C', 'score': 2.67}, {'connected_gene': 'LOC105371910', 'score': 0.77}, {'connected_gene': 'PIR55590', 'score': 0.77}]

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