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
ENST00000395719 [[76567965, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598202, 76598298]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000359707 [[76567965, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598391, 76599153]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000357854 [[76569572, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598391, 76598585]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000507133 [[76571638, 76571640], [76572212, 76572341], [76573822, 76574286]] None
ENST00000507947 [[76580097, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582878]] None
ENST00000510902 [[76580249, 76580430], [76580951, 76581054], [76584026, 76584080]] [[76581036, 76581054], [76584026, 76584080]]
ENST00000503660 [[76580380, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76587396, 76587709], [76598202, 76598341]] [[76580380, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000502654 [[76581026, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76598391, 76598562]] None
ENST00000507745 [[76582124, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76595545, 76595611], [76597796, 76597865]] [[76582124, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000513927 [[76582156, 76582198], [76582740, 76582914], [76584026, 76584108], [76598202, 76598330]] None
ENST00000509100 [[76582174, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76597996, 76598111]] [[76582174, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000511146 [[76582744, 76582914], [76584026, 76584108], [76587114, 76587233], [76597689, 76597895]] [[76582744, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000515457 [[76582759, 76582914], [76584026, 76584108], [76587114, 76587257], [76598391, 76598571]] [[76582759, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000507252 [[76582784, 76582914], [76584026, 76584108], [76587114, 76587233], [76587565, 76587709], [76597773, 76597865]] [[76582784, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000511868 [[76582792, 76582914], [76584026, 76584108], [76587114, 76587233], [76649459, 76649709]] [[76582792, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000509561 [[76582858, 76582914], [76584026, 76584108], [76587114, 76587233], [76619981, 76620113], [76649459, 76649629]] [[76582858, 76582914], [76584026, 76584108], [76587114, 76587209]]
ENST00000508510 [[76584026, 76584108], [76587114, 76587233], [76619981, 76620113], [76649239, 76649360], [76649459, 76649559]] [[76584026, 76584108], [76587114, 76587209]]
ENST00000499709 [[76584035, 76584108], [76587114, 76587233], [76649239, 76649360], [76649459, 76649654]] [[76584035, 76584108], [76587114, 76587209]]
ENST00000507701 [[76586698, 76587233], [76598391, 76598534]] None
NM_012297 [[76567952, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598202, 76598343]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
NM_203505 [[76567952, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598391, 76598667]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76579166, 76579265], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
NM_203504 [[76567952, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587233], [76598391, 76598667]] [[76570613, 76570886], [76571521, 76571640], [76572212, 76572341], [76573822, 76573925], [76580249, 76580430], [76580951, 76581054], [76582107, 76582198], [76582740, 76582914], [76584026, 76584108], [76587114, 76587209]]
Promoter
Chrom Start End Description
chr4 76587143 76587175 CAGE_peak_7_at_G3BP2_5end
chr4 76598052 76598085 CAGE_peak_9_at_G3BP2_5end
chr4 76598296 76598318 CAGE_peak_4_at_G3BP2_5end
chr4 76598326 76598346 CAGE_peak_5_at_G3BP2_5end
chr4 76598434 76598445 CAGE_peak_6_at_G3BP2_5end
chr4 76598527 76598542 CAGE_peak_3_at_G3BP2_5end
chr4 76598544 76598605 CAGE_peak_1_at_G3BP2_5end
chr4 76649546 76649675 CAGE_peak_2_at_G3BP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075654 75654558 75656061 0.31 [{'connected_gene': 'G3BP2', 'score': 22.96}, {'connected_gene': 'CDKL2', 'score': 11.28}, {'connected_gene': 'USO1', 'score': 10.99}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}, {'connected_gene': 'GC04P075638', 'score': 0.37}]
chr4 GH04I075695 75695105 75696975 0.88 [{'connected_gene': 'G3BP2', 'score': 6.94}, {'connected_gene': 'CDKL2', 'score': 5.53}, {'connected_gene': 'CCDC158', 'score': 4.92}, {'connected_gene': 'USO1', 'score': 4.8}, {'connected_gene': 'NAAA', 'score': 4.41}, {'connected_gene': 'RCHY1', 'score': 1.61}, {'connected_gene': 'THAP6', 'score': 1.55}, {'connected_gene': 'NUP54', 'score': 1.5}, {'connected_gene': 'GC04M075663', 'score': 0.29}, {'connected_gene': 'ENSG00000201644', 'score': 0.29}]
chr4 GH04I075671 75671213 75675587 2.26 [{'connected_gene': 'G3BP2', 'score': 563.19}, {'connected_gene': 'USO1', 'score': 17.54}, {'connected_gene': 'CDKL2', 'score': 11.71}, {'connected_gene': 'NUP54', 'score': 10.01}, {'connected_gene': 'NAAA', 'score': 4.4}, {'connected_gene': 'GC04M075663', 'score': 0.39}, {'connected_gene': 'ENSG00000201644', 'score': 0.39}]
chr4 GH04I075701 75701860 75706972 1.03 [{'connected_gene': 'G3BP2', 'score': 18.94}, {'connected_gene': 'USO1', 'score': 18.4}, {'connected_gene': 'CDKL2', 'score': 11.04}, {'connected_gene': 'ODAPH', 'score': 10.13}, {'connected_gene': 'CCDC158', 'score': 5.36}, {'connected_gene': 'GC04M075663', 'score': 0.26}, {'connected_gene': 'ENSG00000201644', 'score': 0.26}]
chr4 GH04I075697 75697881 75699685 1.35 [{'connected_gene': 'G3BP2', 'score': 7.89}, {'connected_gene': 'USO1', 'score': 6.26}, {'connected_gene': 'RCHY1', 'score': 1.45}, {'connected_gene': 'GC04M075663', 'score': 0.28}, {'connected_gene': 'ENSG00000201644', 'score': 0.28}]
chr4 GH04I075686 75686173 75687329 0.96 [{'connected_gene': 'G3BP2', 'score': 19.41}, {'connected_gene': 'USO1', 'score': 16.49}, {'connected_gene': 'LOC105377284', 'score': 11.32}, {'connected_gene': 'RNU2-16P', 'score': 11.32}, {'connected_gene': 'CDKL2', 'score': 10.67}, {'connected_gene': 'RCHY1', 'score': 1.25}, {'connected_gene': 'GC04M075663', 'score': 0.34}, {'connected_gene': 'ENSG00000201644', 'score': 0.34}]
chr4 GH04I075668 75667401 75667800 0.2 [{'connected_gene': 'G3BP2', 'score': 19.62}, {'connected_gene': 'USO1', 'score': 12.4}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}]
chr4 GH04I075667 75667919 75669867 0.56 [{'connected_gene': 'G3BP2', 'score': 24.24}, {'connected_gene': 'USO1', 'score': 16.6}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}]
chr4 GH04I075658 75658641 75659875 0.54 [{'connected_gene': 'G3BP2', 'score': 24.21}, {'connected_gene': 'USO1', 'score': 16.45}, {'connected_gene': 'GC04M075663', 'score': 0.77}, {'connected_gene': 'ENSG00000201644', 'score': 0.77}, {'connected_gene': 'GC04P075638', 'score': 0.34}]
chr4 GH04I075707 75707955 75708846 0.76 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'G3BP2', 'score': 7.99}, {'connected_gene': 'USO1', 'score': 4.35}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075629 75629697 75631386 1.89 [{'connected_gene': 'CDKL2', 'score': 550.77}, {'connected_gene': 'ODAPH', 'score': 10.17}, {'connected_gene': 'G3BP2', 'score': 7.78}, {'connected_gene': 'GC04M075630', 'score': 0.77}]
chr4 GH04I075710 75710200 75710401 0.46 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'USO1', 'score': 5.0}, {'connected_gene': 'G3BP2', 'score': 0.39}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075722 75722181 75727304 2.26 [{'connected_gene': 'USO1', 'score': 557.88}, {'connected_gene': 'G3BP2', 'score': 550.77}, {'connected_gene': 'CDKL2', 'score': 10.08}, {'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'GC04P075797', 'score': 0.19}]
chr4 GH04I075682 75682980 75683431 0.31 [{'connected_gene': 'USO1', 'score': 11.65}, {'connected_gene': 'G3BP2', 'score': 11.65}, {'connected_gene': 'ODAPH', 'score': 10.1}, {'connected_gene': 'GC04M075663', 'score': 0.34}, {'connected_gene': 'ENSG00000201644', 'score': 0.34}]
chr4 GH04I075665 75665939 75667260 0.54 [{'connected_gene': 'USO1', 'score': 12.4}, {'connected_gene': 'G3BP2', 'score': 12.4}, {'connected_gene': 'GC04M075663', 'score': 0.77}, {'connected_gene': 'ENSG00000201644', 'score': 0.77}]
chr4 GH04I075744 75744764 75746665 0.82 [{'connected_gene': 'USO1', 'score': 6.92}, {'connected_gene': 'G3BP2', 'score': 0.34}, {'connected_gene': 'GC04P075797', 'score': 0.23}]
chr4 GH04I075714 75714513 75716201 0.8 [{'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'USO1', 'score': 6.43}, {'connected_gene': 'G3BP2', 'score': 4.99}, {'connected_gene': 'GC04M075663', 'score': 0.23}, {'connected_gene': 'ENSG00000201644', 'score': 0.23}]
chr4 GH04I076205 76205669 76215919 2.5 [{'connected_gene': 'FAM47E', 'score': 569.73}, {'connected_gene': 'SCARB2', 'score': 556.87}, {'connected_gene': 'GC04P076210', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 39.17}, {'connected_gene': 'THAP6', 'score': 16.03}, {'connected_gene': 'SDAD1', 'score': 14.66}, {'connected_gene': 'ART3', 'score': 9.06}, {'connected_gene': 'NAAA', 'score': 7.1}, {'connected_gene': 'G3BP2', 'score': 5.88}, {'connected_gene': 'STBD1', 'score': 4.69}, {'connected_gene': 'CXCL10', 'score': 1.4}, {'connected_gene': 'CXCL11', 'score': 1.4}]