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
ENST00000373365 [[38643700, 38645159], [38649787, 38649877], [38650583, 38650651], [38652149, 38652290], [38654667, 38654750], [38670746, 38670917]] [[38645070, 38645159], [38649787, 38649877], [38650583, 38650651], [38652149, 38652290], [38654667, 38654750], [38670746, 38670830]]
ENST00000470973 [[38643718, 38645159], [38649787, 38649877], [38650583, 38650991]] None
NM_006708 [[38643700, 38645159], [38649787, 38649877], [38650583, 38650651], [38652149, 38652290], [38654667, 38654750], [38670746, 38670952]] [[38645070, 38645159], [38649787, 38649877], [38650583, 38650651], [38652149, 38652290], [38654667, 38654750], [38670746, 38670830]]
Promoter
Chrom Start End Description
chr6 38670845 38670895 CAGE_peak_2_at_GLO1_5end
chr6 38670897 38670930 CAGE_peak_1_at_GLO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I039220 39220579 39222925 1.06 [{'connected_gene': 'KCNK5', 'score': 5.12}, {'connected_gene': 'GLO1', 'score': 4.71}, {'connected_gene': 'DAAM2', 'score': 4.27}, {'connected_gene': 'PIR34969', 'score': 0.18}, {'connected_gene': 'GC06M039593', 'score': 0.09}]
chr6 GH06I039195 39195508 39211835 1.31 [{'connected_gene': 'KCNK5', 'score': 4.75}, {'connected_gene': 'GLO1', 'score': 4.4}, {'connected_gene': 'PIR34969', 'score': 0.22}, {'connected_gene': 'GC06M039593', 'score': 0.08}]
chr6 GH06I038508 38508601 38510510 0.89 [{'connected_gene': 'SAYSD1', 'score': 13.81}, {'connected_gene': 'ANKRD18EP', 'score': 9.66}, {'connected_gene': 'GLO1', 'score': 6.15}, {'connected_gene': 'PIR44974', 'score': 0.34}, {'connected_gene': 'BTBD9-AS1', 'score': 0.29}, {'connected_gene': 'BTBD9', 'score': 0.12}]
chr6 GH06I039084 39084267 39085515 0.43 [{'connected_gene': 'GLP1R', 'score': 22.27}, {'connected_gene': 'SAYSD1', 'score': 21.68}, {'connected_gene': 'GLO1', 'score': 4.45}, {'connected_gene': 'LOC105375046', 'score': 0.44}, {'connected_gene': 'PIR34726', 'score': 0.37}, {'connected_gene': 'GC06M039564', 'score': 0.37}]
chr6 GH06I038754 38754828 38756670 0.7 [{'connected_gene': 'GLO1', 'score': 23.36}, {'connected_gene': 'DNAH8', 'score': 11.1}, {'connected_gene': 'ZRF1PS', 'score': 0.44}, {'connected_gene': 'RN7SL465P', 'score': 0.39}]
chr6 GH06I038770 38770520 38772014 0.49 [{'connected_gene': 'GLO1', 'score': 10.99}, {'connected_gene': 'ENSG00000212586', 'score': 10.36}, {'connected_gene': 'DNAH8', 'score': 4.76}, {'connected_gene': 'GC06P042402', 'score': 0.44}]
chr6 GH06I038875 38875918 38877350 0.42 [{'connected_gene': 'GLO1', 'score': 6.8}, {'connected_gene': 'BTBD9', 'score': 2.28}, {'connected_gene': 'GC06M038822', 'score': 0.23}, {'connected_gene': 'ENSG00000220076', 'score': 0.23}, {'connected_gene': 'DNAH8', 'score': 0.1}]
chr6 GH06I038673 38673353 38674252 0.69 [{'connected_gene': 'GLO1', 'score': 21.12}, {'connected_gene': 'BTBD9', 'score': 15.99}, {'connected_gene': 'GC06P042389', 'score': 0.44}]
chr6 GH06I038676 38676965 38677114 0.38 [{'connected_gene': 'GLO1', 'score': 12.29}, {'connected_gene': 'BTBD9', 'score': 10.71}, {'connected_gene': 'GC06P042389', 'score': 0.44}]
chr6 GH06I038701 38701801 38703814 2.07 [{'connected_gene': 'GLO1', 'score': 569.64}, {'connected_gene': 'ANKRD18EP', 'score': 66.67}, {'connected_gene': 'SAYSD1', 'score': 13.14}, {'connected_gene': 'BTBD9', 'score': 5.54}, {'connected_gene': 'GC06P042389', 'score': 0.29}]
chr6 GH06I038571 38571163 38573278 0.72 [{'connected_gene': 'BTBD9', 'score': 17.1}, {'connected_gene': 'GLO1', 'score': 9.01}, {'connected_gene': 'ENSG00000199938', 'score': 0.44}, {'connected_gene': 'LOC100128379', 'score': 0.37}]
chr6 GH06I038672 38672025 38672154 0.65 [{'connected_gene': 'BTBD9', 'score': 11.58}, {'connected_gene': 'GLO1', 'score': 11.21}, {'connected_gene': 'GC06P042389', 'score': 0.77}]
chr6 GH06I038638 38638232 38641073 2 [{'connected_gene': 'BTBD9', 'score': 557.06}, {'connected_gene': 'LOC105375044', 'score': 550.77}, {'connected_gene': 'GC06P041629', 'score': 550.77}, {'connected_gene': 'GLO1', 'score': 9.25}, {'connected_gene': 'GC06M038613', 'score': 0.77}, {'connected_gene': 'PIR46862', 'score': 0.37}]
chr6 GH06I038688 38688524 38689327 0.59 [{'connected_gene': 'BTBD9', 'score': 10.64}, {'connected_gene': 'BTBD9-AS1', 'score': 9.33}, {'connected_gene': 'GLO1', 'score': 7.4}, {'connected_gene': 'GC06P042389', 'score': 0.34}]
chr6 GH06I038795 38795707 38796492 0.91 [{'connected_gene': 'ENSG00000212586', 'score': 12.06}, {'connected_gene': 'GLO1', 'score': 10.9}, {'connected_gene': 'GC06P042402', 'score': 0.29}, {'connected_gene': 'DNAH8', 'score': 0.18}]
chr6 GH06I038776 38776494 38776614 0.43 [{'connected_gene': 'ENSG00000212586', 'score': 10.88}, {'connected_gene': 'GLO1', 'score': 9.6}, {'connected_gene': 'GC06P042402', 'score': 0.39}, {'connected_gene': 'DNAH8', 'score': 0.21}]
chr6 GH06I038796 38796645 38797884 0.92 [{'connected_gene': 'ENSG00000212586', 'score': 12.88}, {'connected_gene': 'DNAH8', 'score': 11.36}, {'connected_gene': 'GLO1', 'score': 4.86}, {'connected_gene': 'GC06P042402', 'score': 0.29}]
chr6 GH06I038714 38714801 38715600 0.93 [{'connected_gene': 'ENSG00000236355', 'score': 550.77}, {'connected_gene': 'DNAH8', 'score': 550.77}, {'connected_gene': 'GLO1', 'score': 5.68}]
chr6 GH06I038713 38713383 38714519 0.49 [{'connected_gene': 'ENSG00000236355', 'score': 550.77}, {'connected_gene': 'DNAH8', 'score': 550.77}, {'connected_gene': 'GLO1', 'score': 13.31}]