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
ENST00000394642 [[31254927, 31255255], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268631]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268011]]
ENST00000579849 [[31254954, 31255255], [31258344, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31271333]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268011]]
ENST00000395149 [[31255062, 31255255], [31258344, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465]]
ENST00000261713 [[31255088, 31255255], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31267803, 31267995]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31267803, 31267995]]
ENST00000582227 [[31255221, 31255255], [31258492, 31258677], [31260191, 31260323], [31261308, 31261381]] None
ENST00000578289 [[31255221, 31255255], [31258344, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31271895, 31272124]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31271895, 31271899]]
ENST00000439138 [[31255227, 31255255], [31257917, 31257989], [31258344, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31267996]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31267996]]
ENST00000583437 [[31258051, 31258677], [31260191, 31260323], [31261308, 31261326]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261326]]
ENST00000583120 [[31258404, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263486]] None
NM_001033504 [[31254927, 31255255], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268667]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268011]]
NM_015544 [[31254927, 31255255], [31258344, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268667]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268011]]
NM_001301746 [[31254927, 31255255], [31257917, 31257989], [31258344, 31258420], [31258492, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268667]] [[31258546, 31258677], [31260191, 31260323], [31261308, 31261342], [31263349, 31263465], [31266494, 31266554], [31267803, 31268011]]
Promoter
Chrom Start End Description
chr17 31254892 31254915 CAGE_peak_4_at_TMEM98_5end
chr17 31255023 31255079 CAGE_peak_2_at_TMEM98_5end
chr17 31255144 31255155 CAGE_peak_6_at_TMEM98_5end
chr17 31255165 31255228 CAGE_peak_1_at_TMEM98_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I032859 32859937 32860952 0.92 [{'connected_gene': 'CDK5R1', 'score': 9.96}, {'connected_gene': 'MYO1D', 'score': 9.73}, {'connected_gene': 'TMEM98', 'score': 8.14}, {'connected_gene': 'GC17P032870', 'score': 0.44}, {'connected_gene': 'GC17P032830', 'score': 0.31}, {'connected_gene': 'LOC101927198', 'score': 0.29}]
chr17 GH17I032340 32340990 32343150 2.12 [{'connected_gene': 'C17orf75', 'score': 569.43}, {'connected_gene': 'ZNF207', 'score': 67.17}, {'connected_gene': 'UTP6', 'score': 64.43}, {'connected_gene': 'SUZ12', 'score': 61.44}, {'connected_gene': 'RHBDL3', 'score': 12.15}, {'connected_gene': 'TMEM98', 'score': 11.24}, {'connected_gene': 'SH3GL1P1', 'score': 10.99}, {'connected_gene': 'PSMD11', 'score': 10.45}, {'connected_gene': 'MYO1D', 'score': 10.03}, {'connected_gene': 'OOSP1P2', 'score': 0.77}, {'connected_gene': 'ENSG00000265139', 'score': 0.39}, {'connected_gene': 'ENSG00000265794', 'score': 0.37}]
chr17 GH17I032443 32443800 32447126 2.06 [{'connected_gene': 'PSMD11', 'score': 583.77}, {'connected_gene': 'GC17P032446', 'score': 550.77}, {'connected_gene': 'ENSG00000279762', 'score': 550.77}, {'connected_gene': 'ZNF207', 'score': 21.15}, {'connected_gene': 'UTP6', 'score': 13.05}, {'connected_gene': 'SUZ12', 'score': 12.47}, {'connected_gene': 'ENSG00000265139', 'score': 11.77}, {'connected_gene': 'CDK5R1', 'score': 11.65}, {'connected_gene': 'TMEM98', 'score': 11.16}, {'connected_gene': 'RHBDL3', 'score': 11.05}, {'connected_gene': 'C17orf75', 'score': 10.98}, {'connected_gene': 'MIR632', 'score': 10.34}, {'connected_gene': 'GC17M032351', 'score': 0.29}]
chr17 GH17I032853 32853610 32855656 0.49 [{'connected_gene': 'MYO1D', 'score': 11.71}, {'connected_gene': 'ENSG00000226377', 'score': 11.71}, {'connected_gene': 'TMEM98', 'score': 8.24}, {'connected_gene': 'GC17P032870', 'score': 0.37}, {'connected_gene': 'GC17P032830', 'score': 0.34}, {'connected_gene': 'LOC101927198', 'score': 0.31}]
chr17 GH17I032834 32834299 32836017 0.85 [{'connected_gene': 'MYO1D', 'score': 11.43}, {'connected_gene': 'ENSG00000226377', 'score': 11.43}, {'connected_gene': 'TMEM98', 'score': 11.27}, {'connected_gene': 'GC17P032830', 'score': 0.77}, {'connected_gene': 'LOC101927198', 'score': 0.44}, {'connected_gene': 'GC17P032870', 'score': 0.29}]
chr17 GH17I032794 32794020 32796526 1.15 [{'connected_gene': 'MYO1D', 'score': 16.18}, {'connected_gene': 'TMEM98', 'score': 14.29}, {'connected_gene': 'ENSG00000226377', 'score': 11.16}, {'connected_gene': 'GC17M032752', 'score': 0.77}, {'connected_gene': 'GC17P032782', 'score': 0.39}]
chr17 GH17I032909 32909670 32913149 1.37 [{'connected_gene': 'MYO1D', 'score': 18.84}, {'connected_gene': 'TMEM98', 'score': 16.47}, {'connected_gene': 'ENSG00000226377', 'score': 11.78}, {'connected_gene': 'ENSG00000236377', 'score': 0.44}, {'connected_gene': 'GC17P032879', 'score': 0.29}]
chr17 GH17I032918 32918043 32918192 0.2 [{'connected_gene': 'MYO1D', 'score': 16.18}, {'connected_gene': 'ENSG00000226377', 'score': 11.28}, {'connected_gene': 'TMEM98', 'score': 0.44}, {'connected_gene': 'ENSG00000236377', 'score': 0.39}, {'connected_gene': 'GC17P032879', 'score': 0.28}]
chr17 GH17I032875 32875577 32880028 2.01 [{'connected_gene': 'MYO1D', 'score': 555.34}, {'connected_gene': 'GC17P032879', 'score': 550.77}, {'connected_gene': 'LOC102724715', 'score': 550.77}, {'connected_gene': 'ENSG00000226377', 'score': 550.77}, {'connected_gene': 'TMEM98', 'score': 25.41}]
chr17 GH17I032803 32803683 32803832 0.43 [{'connected_gene': 'TMEM98', 'score': 11.02}, {'connected_gene': 'CDK5R1', 'score': 9.78}, {'connected_gene': 'GC17M032752', 'score': 0.77}, {'connected_gene': 'LOC101927198', 'score': 0.34}, {'connected_gene': 'MYO1D', 'score': 0.19}]
chr17 GH17I032927 32927006 32929964 1.99 [{'connected_gene': 'TMEM98', 'score': 571.47}, {'connected_gene': 'ZNF207', 'score': 77.29}, {'connected_gene': 'SUZ12', 'score': 71.06}, {'connected_gene': 'SH3GL1P1', 'score': 19.42}, {'connected_gene': 'LRRC37B', 'score': 9.73}, {'connected_gene': 'PIR43668', 'score': 0.39}]
chr17 GH17I032893 32893649 32895671 1.1 [{'connected_gene': 'TMEM98', 'score': 28.07}, {'connected_gene': 'MYO1D', 'score': 9.67}, {'connected_gene': 'ENSG00000236377', 'score': 0.39}, {'connected_gene': 'GC17P032879', 'score': 0.37}, {'connected_gene': 'LOC102724715', 'score': 0.37}]
chr17 GH17I032821 32821903 32823755 1.01 [{'connected_gene': 'TMEM98', 'score': 13.41}, {'connected_gene': 'MYO1D', 'score': 7.46}, {'connected_gene': 'LOC101927198', 'score': 0.44}, {'connected_gene': 'GC17M032752', 'score': 0.34}]
chr17 GH17I032818 32818623 32819533 0.91 [{'connected_gene': 'TMEM98', 'score': 21.48}, {'connected_gene': 'MYO1D', 'score': 11.53}, {'connected_gene': 'ENSG00000226377', 'score': 11.53}, {'connected_gene': 'LOC101927198', 'score': 0.44}, {'connected_gene': 'GC17M032752', 'score': 0.37}]
chr17 GH17I032935 32935164 32938101 1.02 [{'connected_gene': 'TMEM98', 'score': 11.47}, {'connected_gene': 'MYO1D', 'score': 10.97}, {'connected_gene': 'ENSG00000226377', 'score': 10.97}, {'connected_gene': 'PIR43668', 'score': 0.44}]
chr17 GH17I032770 32770643 32772366 0.38 [{'connected_gene': 'TMEM98', 'score': 10.88}, {'connected_gene': 'GC17P032782', 'score': 0.39}, {'connected_gene': 'GC17M032752', 'score': 0.31}, {'connected_gene': 'GC17M032742', 'score': 0.31}, {'connected_gene': 'MYO1D', 'score': 0.14}]
chr17 GH17I032961 32961600 32963404 0.69 [{'connected_gene': 'TMEM98', 'score': 13.15}, {'connected_gene': 'SPACA3', 'score': 10.78}, {'connected_gene': 'GC17M032949', 'score': 0.37}, {'connected_gene': 'LOC102724731', 'score': 0.37}]
chr17 GH17I032956 32956423 32956568 0.64 [{'connected_gene': 'TMEM98', 'score': 24.3}, {'connected_gene': 'SPACA3', 'score': 0.39}, {'connected_gene': 'LOC102724731', 'score': 0.39}, {'connected_gene': 'GC17M032949', 'score': 0.34}]
chr17 GH17I032951 32951833 32955854 0.54 [{'connected_gene': 'TMEM98', 'score': 18.62}, {'connected_gene': 'SPACA3', 'score': 10.72}, {'connected_gene': 'LOC102724731', 'score': 0.44}, {'connected_gene': 'GC17M032949', 'score': 0.31}]
chr17 GH17I032881 32881991 32882965 0.81 [{'connected_gene': 'TMEM98', 'score': 10.36}, {'connected_gene': 'GC17P032879', 'score': 0.77}, {'connected_gene': 'LOC102724715', 'score': 0.44}, {'connected_gene': 'ENSG00000236377', 'score': 0.34}]
chr17 GH17I032896 32896715 32900116 1.4 [{'connected_gene': 'TMEM98', 'score': 17.45}, {'connected_gene': 'ENSG00000236377', 'score': 0.44}, {'connected_gene': 'GC17P032879', 'score': 0.37}, {'connected_gene': 'LOC102724715', 'score': 0.34}]
chr17 GH17I032886 32886745 32887280 0.2 [{'connected_gene': 'TMEM98', 'score': 11.96}, {'connected_gene': 'GC17P032879', 'score': 0.44}, {'connected_gene': 'LOC102724715', 'score': 0.44}, {'connected_gene': 'ENSG00000236377', 'score': 0.37}]
chr17 GH17I032969 32969771 32971492 0.9 [{'connected_gene': 'SPACA3', 'score': 562.42}, {'connected_gene': 'TMEM98', 'score': 13.11}, {'connected_gene': 'GC17P032979', 'score': 0.44}, {'connected_gene': 'GC17M032949', 'score': 0.44}]
chr17 GH17I032943 32943035 32945802 0.8 [{'connected_gene': 'LOC102724731', 'score': 550.77}, {'connected_gene': 'TMEM98', 'score': 20.2}, {'connected_gene': 'PIR43668', 'score': 0.77}]
chr17 GH17I032940 32940783 32940932 0.2 [{'connected_gene': 'PIR43668', 'score': 550.77}, {'connected_gene': 'MYO1D', 'score': 11.29}, {'connected_gene': 'ENSG00000226377', 'score': 11.29}, {'connected_gene': 'TMEM98', 'score': 0.39}]
chr17 GH17I032783 32783643 32783792 0.62 [{'connected_gene': 'GC17P032782', 'score': 550.77}, {'connected_gene': 'MYO1D', 'score': 12.24}, {'connected_gene': 'ENSG00000226377', 'score': 12.24}, {'connected_gene': 'TMEM98', 'score': 11.41}, {'connected_gene': 'GC17M032752', 'score': 0.37}]
chr17 GH17I032868 32868916 32871801 0.94 [{'connected_gene': 'GC17P032870', 'score': 550.77}, {'connected_gene': 'TMEM98', 'score': 10.94}, {'connected_gene': 'MYO1D', 'score': 0.44}, {'connected_gene': 'ENSG00000226377', 'score': 0.44}]
chr17 GH17I032903 32903440 32905694 0.82 [{'connected_gene': 'ENSG00000236377', 'score': 550.77}, {'connected_gene': 'TMEM98', 'score': 17.59}, {'connected_gene': 'GC17P032879', 'score': 0.31}, {'connected_gene': 'LOC102724715', 'score': 0.31}]
chr17 GH17I032015 32015315 32016400 1.12 [{'connected_gene': 'ENSG00000265139', 'score': 12.1}, {'connected_gene': 'ENSG00000263990', 'score': 11.85}, {'connected_gene': 'LOC105371730', 'score': 11.76}, {'connected_gene': 'RHOT1', 'score': 11.76}, {'connected_gene': 'TMEM98', 'score': 11.7}, {'connected_gene': 'SUZ12', 'score': 11.66}, {'connected_gene': 'COPRS', 'score': 11.07}, {'connected_gene': 'UTP6', 'score': 10.67}, {'connected_gene': 'C17orf75', 'score': 10.09}, {'connected_gene': 'GC17M032014', 'score': 0.77}, {'connected_gene': 'LRRC37B', 'score': 0.44}, {'connected_gene': 'PIR62613', 'score': 0.44}]
chr17 GH17I032827 32827027 32830272 1.49 [{'connected_gene': 'GC17M032831', 'score': 550.77}, {'connected_gene': 'ENSG00000201178', 'score': 550.77}, {'connected_gene': 'LOC101927198', 'score': 550.77}, {'connected_gene': 'GC17P032830', 'score': 550.77}, {'connected_gene': 'MYO1D', 'score': 12.97}, {'connected_gene': 'ENSG00000226377', 'score': 11.41}, {'connected_gene': 'TMEM98', 'score': 8.16}]

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