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
ENST00000409528 [[103353366, 103353472], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103433875]] [[103380843, 103380886], [103414321, 103414459], [103431206, 103431427]]
ENST00000409173 [[103353369, 103353472], [103374847, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103433879]] [[103374929, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103431427]]
ENST00000488134 [[103353404, 103353472], [103379045, 103379145], [103380787, 103380886], [103431206, 103431563]] None
ENST00000412401 [[103378471, 103378808], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103434125]] [[103378676, 103378808], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103431427]]
ENST00000486293 [[103379057, 103379145], [103380787, 103380886], [103414321, 103414459], [103459870, 103460352]] None
ENST00000484094 [[103414224, 103414459], [103431206, 103432775]] None
ENST00000454536 [[103353366, 103353472], [103373871, 103373998], [103374847, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414359]] [[103374929, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414359]]
ENST00000469971 [[103353390, 103353472], [103379045, 103379145], [103380787, 103380886], [103391588, 103391977]] None
NM_001321346 [[103353364, 103353472], [103379045, 103379145], [103380787, 103380886], [103431206, 103434138]] [[103380843, 103380886], [103431206, 103431427]]
NM_001321345 [[103353364, 103353472], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103434138]] [[103380843, 103380886], [103414321, 103414459], [103431206, 103431427]]
NM_001321344 [[103353364, 103353472], [103374847, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103434138]] [[103374929, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103431427]]
NM_001321343 [[103353364, 103353472], [103373871, 103373998], [103374847, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103434138]] [[103374929, 103374932], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103431427]]
NM_144632 [[103378489, 103378808], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103434138]] [[103378676, 103378808], [103379045, 103379145], [103380787, 103380886], [103414321, 103414459], [103431206, 103431427]]
Promoter
Chrom Start End Description
chr2 103353367 103353400 CAGE_peak_1_at_TMEM182_5end
chr2 103378482 103378496 CAGE_peak_3_at_TMEM182_5end
chr2 103378505 103378521 CAGE_peak_4_at_TMEM182_5end
chr2 103378596 103378599 CAGE_peak_2_at_TMEM182_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I102735 102735397 102737749 1.99 [{'connected_gene': 'MFSD9', 'score': 550.77}, {'connected_gene': 'TMEM182', 'score': 550.77}, {'connected_gene': 'SLC9A2', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102770 102770369 102773994 0.51 [{'connected_gene': 'MFSD9', 'score': 25.88}, {'connected_gene': 'TMEM182', 'score': 0.28}, {'connected_gene': 'LINC01796', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102782 102782769 102784712 0.31 [{'connected_gene': 'MFSD9', 'score': 39.28}, {'connected_gene': 'TMEM182', 'score': 0.25}, {'connected_gene': 'LINC01796', 'score': 0.14}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102808 102808844 102811028 0.43 [{'connected_gene': 'MFSD9', 'score': 38.43}, {'connected_gene': 'TMEM182', 'score': 0.19}, {'connected_gene': 'LINC01796', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102766 102766330 102768534 0.49 [{'connected_gene': 'MFSD9', 'score': 71.94}, {'connected_gene': 'TMEM182', 'score': 0.29}, {'connected_gene': 'LINC01796', 'score': 0.13}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102812 102812777 102816729 0.38 [{'connected_gene': 'MFSD9', 'score': 38.42}, {'connected_gene': 'TMEM182', 'score': 0.18}, {'connected_gene': 'LINC01796', 'score': 0.18}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102787 102787805 102789114 0.54 [{'connected_gene': 'MFSD9', 'score': 17.48}, {'connected_gene': 'TMEM182', 'score': 0.23}, {'connected_gene': 'LINC01796', 'score': 0.14}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102754 102754493 102756082 0.38 [{'connected_gene': 'MFSD9', 'score': 26.0}, {'connected_gene': 'TMEM182', 'score': 0.37}, {'connected_gene': 'LINC01796', 'score': 0.11}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102801 102801460 102803513 1 [{'connected_gene': 'MFSD9', 'score': 17.92}, {'connected_gene': 'TMEM182', 'score': 0.2}, {'connected_gene': 'LINC01796', 'score': 0.16}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102761 102761292 102762977 0.9 [{'connected_gene': 'TMEM182', 'score': 550.31}, {'connected_gene': 'MFSD9', 'score': 58.55}, {'connected_gene': 'LINC01796', 'score': 0.12}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102806 102806201 102806491 1.04 [{'connected_gene': 'TMEM182', 'score': 0.2}, {'connected_gene': 'LINC01796', 'score': 0.17}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102976 102976630 102976863 0.58 [{'connected_gene': 'LINC01935', 'score': 0.44}, {'connected_gene': 'GC02P102943', 'score': 0.29}, {'connected_gene': 'TMEM182', 'score': 0.07}]
chr2 GH02I102827 102827001 102827200 0.94 [{'connected_gene': 'LINC01796', 'score': 0.2}, {'connected_gene': 'TMEM182', 'score': 0.16}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102848 102848360 102849000 0.87 [{'connected_gene': 'LINC01796', 'score': 0.25}, {'connected_gene': 'TMEM182', 'score': 0.14}, {'connected_gene': 'GC02P101903', 'score': 0.02}]
chr2 GH02I102943 102943508 102944514 0.6 [{'connected_gene': 'GC02P102943', 'score': 550.77}, {'connected_gene': 'LINC01935', 'score': 0.26}, {'connected_gene': 'TMEM182', 'score': 0.08}]
chr2 GH02I102921 102921903 102923410 0.8 [{'connected_gene': 'GC02P102943', 'score': 0.34}, {'connected_gene': 'LINC01796', 'score': 0.31}, {'connected_gene': 'TMEM182', 'score': 0.09}]
chr2 GH02I102931 102931968 102933254 0.92 [{'connected_gene': 'GC02P102943', 'score': 0.39}, {'connected_gene': 'LINC01796', 'score': 0.28}, {'connected_gene': 'TMEM182', 'score': 0.08}]