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
ENST00000505926 [[76506273, 76506320], [76506783, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627298]] [[76607851, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627298]]
ENST00000340978 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76723243]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
ENST00000346042 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76723243]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
ENST00000264917 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76725632]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
ENST00000342343 [[76506750, 76507089], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722458]] [[76506750, 76507089], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
ENST00000333194 [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722458]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
ENST00000502945 [[76509768, 76509815], [76542553, 76542672], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284]] [[76607851, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284]]
ENST00000503963 [[76621517, 76621554], [76624822, 76624882], [76627170, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646943]] [[76633057, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646943]]
ENST00000505283 [[76706248, 76706953], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724020]] [[76707953, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
NM_001029853 [[76506705, 76507089], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724081]] [[76506750, 76507089], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
NM_001029851 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724081]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
NM_001029854 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724081]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
NM_001029852 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724081]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
NM_003719 [[76506705, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76724081]] [[76506750, 76507089], [76607818, 76607878], [76621363, 76621554], [76624822, 76624882], [76627226, 76627284], [76633051, 76633140], [76640677, 76640756], [76645243, 76645384], [76646889, 76646978], [76649170, 76649231], [76696072, 76696115], [76700544, 76700622], [76703205, 76703282], [76704717, 76704882], [76707500, 76707546], [76707924, 76708060], [76708935, 76709134], [76714053, 76714271], [76715591, 76715712], [76717645, 76717813], [76721591, 76721721], [76722269, 76722379]]
Promoter
Chrom Start End Description
chr5 76506493 76506540 CAGE_peak_1_at_PDE8B_5end
chr5 76506772 76506787 CAGE_peak_5_at_PDE8B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I077486 77486284 77486961 0.43 [{'connected_gene': 'PDE8B', 'score': 19.43}, {'connected_gene': 'GC05M077504', 'score': 0.34}, {'connected_gene': 'GC05M077427', 'score': 0.22}, {'connected_gene': 'WDR41', 'score': 0.12}]
chr5 GH05I077379 77379342 77380211 0.75 [{'connected_gene': 'PDE8B', 'score': 18.61}, {'connected_gene': 'GC05M077395', 'score': 0.37}, {'connected_gene': 'GC05P077342', 'score': 0.28}]
chr5 GH05I077232 77232683 77233314 0.46 [{'connected_gene': 'PDE8B', 'score': 11.33}, {'connected_gene': 'GC05M077218', 'score': 0.39}, {'connected_gene': 'GC05M077268', 'score': 0.26}]
chr5 GH05I077210 77210200 77211001 1.42 [{'connected_gene': 'PDE8B', 'score': 550.29}, {'connected_gene': 'GC05M077218', 'score': 0.44}]
chr5 GH05I077231 77231124 77232068 0.88 [{'connected_gene': 'ZBED3-AS1', 'score': 10.5}, {'connected_gene': 'S100Z', 'score': 4.76}, {'connected_gene': 'GC05M077218', 'score': 0.39}, {'connected_gene': 'GC05M077268', 'score': 0.25}, {'connected_gene': 'PDE8B', 'score': 0.23}]
chr5 GH05I077490 77490298 77493065 2.04 [{'connected_gene': 'WDR41', 'score': 568.24}, {'connected_gene': 'PDE8B', 'score': 34.85}, {'connected_gene': 'GC05M077504', 'score': 0.37}, {'connected_gene': 'GC05M077427', 'score': 0.21}]
chr5 GH05I077426 77426116 77426265 0.6 [{'connected_gene': 'WDR41', 'score': 16.01}, {'connected_gene': 'GC05M077427', 'score': 0.77}, {'connected_gene': 'GC05M077395', 'score': 0.31}, {'connected_gene': 'PDE8B', 'score': 0.07}]
chr5 GH05I077301 77301596 77301745 0.6 [{'connected_gene': 'WDR41', 'score': 4.18}, {'connected_gene': 'ALDH7A1P1', 'score': 0.39}, {'connected_gene': 'GC05P077342', 'score': 0.26}, {'connected_gene': 'PDE8B', 'score': 0.13}]
chr5 GH05I077291 77291559 77292781 0.31 [{'connected_gene': 'ALDH7A1P1', 'score': 562.61}, {'connected_gene': 'PDE8B', 'score': 6.69}, {'connected_gene': 'GC05P077342', 'score': 0.23}]
chr5 GH05I077282 77282093 77283047 0.64 [{'connected_gene': 'ALDH7A1P1', 'score': 11.54}, {'connected_gene': 'RPL7P23', 'score': 10.07}, {'connected_gene': 'GC05M077268', 'score': 0.77}, {'connected_gene': 'PDE8B', 'score': 0.15}]
chr5 GH05I077166 77166546 77169812 1.12 [{'connected_gene': 'ALDH7A1P1', 'score': 24.85}, {'connected_gene': 'RPL7P23', 'score': 11.0}, {'connected_gene': 'TBCA', 'score': 10.49}, {'connected_gene': 'PDE8B', 'score': 5.13}, {'connected_gene': 'HMGB1P35', 'score': 0.34}, {'connected_gene': 'ZBED3-AS1', 'score': 0.18}]
chr5 GH05I077266 77266469 77266601 0.35 [{'connected_gene': 'S100Z', 'score': 1.86}, {'connected_gene': 'GC05M077268', 'score': 0.39}, {'connected_gene': 'GC05M077218', 'score': 0.25}, {'connected_gene': 'PDE8B', 'score': 0.17}]
chr5 GH05I077144 77144636 77144785 0.63 [{'connected_gene': 'HMGB1P35', 'score': 550.77}, {'connected_gene': 'PDE8B', 'score': 10.42}, {'connected_gene': 'ZBED3-AS1', 'score': 10.18}, {'connected_gene': 'LOC100422441', 'score': 4.99}, {'connected_gene': 'ZBED3', 'score': 0.22}]
chr5 GH05I077155 77155455 77155759 0.28 [{'connected_gene': 'HMGB1P35', 'score': 0.44}, {'connected_gene': 'PDE8B', 'score': 0.34}, {'connected_gene': 'ZBED3-AS1', 'score': 0.2}]