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
ENST00000371547 [[94590934, 94591114], [94594469, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818347]] [[94591077, 94591114], [94594469, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
ENST00000371552 [[94594466, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819250]] [[94594495, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
ENST00000371543 [[94608241, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94661608]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659405]]
ENST00000443748 [[94608271, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94688095, 94688179], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819250]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94688095, 94688179], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
ENST00000260762 [[94608276, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819247]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
ENST00000495132 [[94688130, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94759006, 94759144], [94773950, 94774024], [94816680, 94816793], [94817979, 94818281]] [[94688176, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94759006, 94759095]]
ENST00000458552 [[94757230, 94757372], [94773950, 94774024]] [[94757230, 94757372], [94773950, 94774024]]
ENST00000497262 [[94669240, 94669388], [94675514, 94675787]] None
NM_001013848 [[94586587, 94586701], [94594469, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819251]] [[94594495, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
NM_001319194 [[94590934, 94591114], [94594469, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819251]] [[94591077, 94591114], [94594469, 94594581], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
NM_001319200 [[94608211, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94688095, 94688179], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819251]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94688095, 94688179], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
NM_001319195 [[94608211, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712032, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819251]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712032, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
NM_019053 [[94608211, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94819251]] [[94608290, 94608391], [94653105, 94653277], [94654550, 94654598], [94654686, 94654777], [94659355, 94659401], [94669183, 94669388], [94675514, 94675670], [94679738, 94679807], [94688095, 94688179], [94693900, 94693947], [94694066, 94694187], [94695570, 94695642], [94700483, 94700581], [94708030, 94708136], [94712029, 94712139], [94714386, 94714498], [94715336, 94715471], [94733809, 94733989], [94757230, 94757372], [94773950, 94774024], [94816680, 94816793], [94817979, 94818112]]
Promoter
Chrom Start End Description
chr10 94590857 94590871 CAGE_peak_4_at_EXOC6_5end
chr10 94590876 94590889 CAGE_peak_6_at_EXOC6_5end
chr10 94590895 94590905 CAGE_peak_8_at_EXOC6_5end
chr10 94590910 94590942 CAGE_peak_3_at_EXOC6_5end
chr10 94590950 94590955 CAGE_peak_13_at_EXOC6_5end
chr10 94590997 94591006 CAGE_peak_11_at_EXOC6_5end
chr10 94591023 94591034 CAGE_peak_7_at_EXOC6_5end
chr10 94594313 94594337 CAGE_peak_5_at_EXOC6_5end
chr10 94594351 94594367 CAGE_peak_10_at_EXOC6_5end
chr10 94608218 94608241 CAGE_peak_2_at_EXOC6_5end
chr10 94608245 94608292 CAGE_peak_1_at_EXOC6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I092754 92754239 92758466 1.94 [{'connected_gene': 'BTAF1', 'score': 43.86}, {'connected_gene': 'RPL17P34', 'score': 31.97}, {'connected_gene': 'PDE6C', 'score': 12.09}, {'connected_gene': 'TNKS2', 'score': 9.78}, {'connected_gene': 'MARK2P9', 'score': 6.0}, {'connected_gene': 'EXOC6', 'score': 2.84}, {'connected_gene': 'MARCH5', 'score': 2.78}, {'connected_gene': 'HHEX', 'score': 2.63}, {'connected_gene': 'GC10P092747', 'score': 0.44}, {'connected_gene': 'GC10M092781', 'score': 0.31}]
chr10 GH10I092115 92115001 92115400 0.31 [{'connected_gene': 'BTAF1', 'score': 19.8}, {'connected_gene': 'CPEB3', 'score': 18.67}, {'connected_gene': 'ENSG00000252993', 'score': 11.11}, {'connected_gene': 'MARCH5', 'score': 10.72}, {'connected_gene': 'EXOC6', 'score': 4.3}, {'connected_gene': 'SDHCP2', 'score': 0.77}, {'connected_gene': 'GC10M092115', 'score': 0.39}]
chr10 GH10I091900 91900754 91903127 1.13 [{'connected_gene': 'TNKS2', 'score': 9.56}, {'connected_gene': 'FGFBP3', 'score': 6.06}, {'connected_gene': 'EXOC6', 'score': 4.87}, {'connected_gene': 'EIF2S2P3', 'score': 4.65}, {'connected_gene': 'ENSG00000273497', 'score': 0.44}, {'connected_gene': 'ENSG00000272817', 'score': 0.44}]
chr10 GH10I092833 92833437 92835699 1.69 [{'connected_gene': 'EXOC6', 'score': 550.77}, {'connected_gene': 'KIF11', 'score': 10.75}, {'connected_gene': 'IDE', 'score': 10.75}, {'connected_gene': 'MARCH5', 'score': 3.92}, {'connected_gene': 'GC10M092798', 'score': 0.31}]
chr10 GH10I092845 92845601 92849947 2.18 [{'connected_gene': 'EXOC6', 'score': 550.39}, {'connected_gene': 'HHEX', 'score': 11.38}, {'connected_gene': 'PDE6C', 'score': 4.73}, {'connected_gene': 'ENSG00000225118', 'score': 0.29}]
chr10 GH10I092902 92902104 92902253 0.71 [{'connected_gene': 'EXOC6', 'score': 5.4}, {'connected_gene': 'ENSG00000225118', 'score': 0.34}, {'connected_gene': 'ENSG00000226425', 'score': 0.1}]
chr10 GH10I092829 92829573 92831937 1.3 [{'connected_gene': 'EXOC6', 'score': 0.77}, {'connected_gene': 'GC10M092798', 'score': 0.34}]
chr10 GH10I092842 92842592 92843401 1.16 [{'connected_gene': 'EXOC6', 'score': 0.44}, {'connected_gene': 'ENSG00000225118', 'score': 0.28}]
chr10 GH10I092838 92838081 92840563 1.29 [{'connected_gene': 'PDE6C', 'score': 20.6}, {'connected_gene': 'FRA10AC1', 'score': 14.79}, {'connected_gene': 'RPL17P34', 'score': 10.37}, {'connected_gene': 'BTAF1', 'score': 9.89}, {'connected_gene': 'MARK2P9', 'score': 4.15}, {'connected_gene': 'EXOC6', 'score': 0.77}, {'connected_gene': 'ENSG00000225118', 'score': 0.28}]
chr10 GH10I092886 92886091 92887201 0.49 [{'connected_gene': 'CYP26C1', 'score': 10.6}, {'connected_gene': 'ENSG00000226425', 'score': 10.6}, {'connected_gene': 'ENSG00000225118', 'score': 0.44}, {'connected_gene': 'EXOC6', 'score': 0.23}]
chr10 GH10I092937 92937738 92938952 0.2 [{'connected_gene': 'CYP26C1', 'score': 10.39}, {'connected_gene': 'ENSG00000226425', 'score': 10.39}, {'connected_gene': 'ENSG00000225118', 'score': 0.21}, {'connected_gene': 'EXOC6', 'score': 0.15}]
chr10 GH10I092894 92894544 92894749 0.51 [{'connected_gene': 'CYP26C1', 'score': 10.67}, {'connected_gene': 'ENSG00000226425', 'score': 10.67}, {'connected_gene': 'ENSG00000225118', 'score': 0.37}, {'connected_gene': 'EXOC6', 'score': 0.22}]
chr10 GH10I092970 92970824 92970973 0.2 [{'connected_gene': 'CYP26C1', 'score': 11.41}, {'connected_gene': 'ENSG00000226425', 'score': 11.41}, {'connected_gene': 'ENSG00000225118', 'score': 0.16}, {'connected_gene': 'EXOC6', 'score': 0.12}]
chr10 GH10I092971 92971435 92973414 1.12 [{'connected_gene': 'CYP26C1', 'score': 11.41}, {'connected_gene': 'ENSG00000226425', 'score': 11.41}, {'connected_gene': 'ENSG00000225118', 'score': 0.16}, {'connected_gene': 'EXOC6', 'score': 0.12}]
chr10 GH10I092891 92891541 92893532 1.17 [{'connected_gene': 'CYP26C1', 'score': 10.61}, {'connected_gene': 'ENSG00000226425', 'score': 10.61}, {'connected_gene': 'ENSG00000225118', 'score': 0.39}, {'connected_gene': 'EXOC6', 'score': 0.22}]
chr10 GH10I093059 93059790 93064287 1.3 [{'connected_gene': 'CYP26C1', 'score': 550.77}, {'connected_gene': 'ENSG00000226425', 'score': 550.77}, {'connected_gene': 'EXOC6', 'score': 6.09}, {'connected_gene': 'ENSG00000279607', 'score': 0.44}]
chr10 GH10I092938 92938964 92939113 0.2 [{'connected_gene': 'CYP26C1', 'score': 10.39}, {'connected_gene': 'ENSG00000226425', 'score': 10.39}, {'connected_gene': 'ENSG00000225118', 'score': 0.21}, {'connected_gene': 'EXOC6', 'score': 0.15}]
chr10 GH10I092914 92914584 92914753 0.64 [{'connected_gene': 'CYP26C1', 'score': 10.68}, {'connected_gene': 'ENSG00000226425', 'score': 10.68}, {'connected_gene': 'ENSG00000225118', 'score': 0.28}, {'connected_gene': 'EXOC6', 'score': 0.18}]
chr10 GH10I092210 92210117 92212212 1.26 [{'connected_gene': 'CPEB3', 'score': 14.3}, {'connected_gene': 'TNKS2-AS1', 'score': 7.42}, {'connected_gene': 'EXOC6', 'score': 4.52}, {'connected_gene': 'BTAF1', 'score': 3.16}, {'connected_gene': 'TNKS2', 'score': 1.19}, {'connected_gene': 'GC10M092205', 'score': 0.44}, {'connected_gene': 'NHP2P1', 'score': 0.44}, {'connected_gene': 'ENSG00000221042', 'score': 0.44}]
chr10 GH10I092885 92885064 92885133 0.54 [{'connected_gene': 'CYP26A1', 'score': 11.01}, {'connected_gene': 'ENSG00000225118', 'score': 0.44}, {'connected_gene': 'EXOC6', 'score': 0.23}, {'connected_gene': 'ENSG00000226425', 'score': 0.1}]
chr10 GH10I093071 93071522 93075509 1.91 [{'connected_gene': 'CYP26A1', 'score': 557.2}, {'connected_gene': 'ENSG00000279607', 'score': 550.77}, {'connected_gene': 'PDE6C', 'score': 13.89}, {'connected_gene': 'EXOC6', 'score': 5.74}, {'connected_gene': 'GC10M093106', 'score': 0.29}, {'connected_gene': 'NIP7P1', 'score': 0.29}]
chr10 GH10I092304 92304735 92306558 0.43 [{'connected_gene': 'GC10P092304', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 9.01}, {'connected_gene': 'EXOC6', 'score': 4.68}, {'connected_gene': 'MARCH5', 'score': 0.39}, {'connected_gene': 'GC10P092335', 'score': 0.31}, {'connected_gene': 'GC10M092263', 'score': 0.13}]
chr10 GH10I092809 92809631 92810475 0.2 [{'connected_gene': 'GC10M092798', 'score': 550.77}, {'connected_gene': 'EXOC6', 'score': 12.61}, {'connected_gene': 'CYP26C1', 'score': 5.16}]
chr10 GH10I092812 92812204 92812353 0.51 [{'connected_gene': 'GC10M092798', 'score': 0.77}, {'connected_gene': 'EXOC6', 'score': 0.34}]
chr10 GH10I092821 92821153 92823337 1.3 [{'connected_gene': 'GC10M092798', 'score': 0.39}, {'connected_gene': 'EXOC6', 'score': 0.39}]
chr10 GH10I093039 93039844 93039973 0.7 [{'connected_gene': 'ENSG00000226425', 'score': 0.34}, {'connected_gene': 'ENSG00000225118', 'score': 0.1}, {'connected_gene': 'EXOC6', 'score': 0.08}]
chr10 GH10I092813 92812044 92812193 0.51 [{'connected_gene': 'GC10M092798', 'score': 0.77}, {'connected_gene': 'EXOC6', 'score': 0.34}]
chr10 GH10I092916 92916564 92916713 0.31 [{'connected_gene': 'ENSG00000225118', 'score': 0.28}, {'connected_gene': 'EXOC6', 'score': 0.18}, {'connected_gene': 'ENSG00000226425', 'score': 0.11}]
chr10 GH10I092815 92815574 92816535 0.63 [{'connected_gene': 'GC10M092798', 'score': 0.44}, {'connected_gene': 'EXOC6', 'score': 0.37}]
chr10 GH10I093029 93029879 93031368 0.77 [{'connected_gene': 'ENSG00000226425', 'score': 12.06}, {'connected_gene': 'CYP26C1', 'score': 12.04}, {'connected_gene': 'CYP26A1', 'score': 11.43}, {'connected_gene': 'ENSG00000225118', 'score': 0.1}, {'connected_gene': 'EXOC6', 'score': 0.08}]

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