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
ENST00000468573 [[239549864, 239550527], [239656008, 239656107], [239708940, 239709049], [239795523, 239795586], [239841485, 239841588], [239882095, 239882199], [239990152, 239990381], [239990551, 239990678], [240049388, 240049896]] None
ENST00000492335 [[239550219, 239550527], [239656008, 239656107], [239708940, 239709049], [239769304, 239769507]] None
ENST00000481779 [[239571519, 239571549], [239656008, 239656107], [239708940, 239709912]] None
ENST00000255380 [[239792372, 239792839], [239795523, 239795586], [239841485, 239841588], [239990551, 239990678], [240070732, 240078750]] [[240070751, 240072524]]
ENST00000487470 [[239795550, 239795576], [239841485, 239841588], [239866497, 239866949]] None
ENST00000448020 [[239882842, 239882954], [239990551, 239990678], [240070732, 240071080]] [[240070751, 240071080]]
NM_001347716 [[239550229, 239550527], [239656008, 239656107], [239708940, 239709049], [239795523, 239795586], [239841485, 239841588], [239990152, 239990381], [239990551, 239990678], [240070732, 240078750]] [[240070751, 240072524]]
NM_000740 [[239792372, 239792839], [239795523, 239795586], [239841485, 239841588], [239990551, 239990678], [240070732, 240078750]] [[240070751, 240072524]]
Promoter
Chrom Start End Description
chr1 239549856 239549887 CAGE_peak_1_at_CHRM3_5end
chr1 239549889 239549900 CAGE_peak_5_at_CHRM3_5end
chr1 239549933 239549960 CAGE_peak_2_at_CHRM3_5end
chr1 239549963 239549974 CAGE_peak_6_at_CHRM3_5end
chr1 239550009 239550033 CAGE_peak_4_at_CHRM3_5end
chr1 239550209 239550229 CAGE_peak_8_at_CHRM3_5end
chr1 239550243 239550304 CAGE_peak_3_at_CHRM3_5end
chr1 239571457 239571466 CAGE_peak_18_at_CHRM3_5end
chr1 239571481 239571493 CAGE_peak_7_at_CHRM3_5end
chr1 239882497 239882503 CAGE_peak_13_at_CHRM3_5end
chr1 239882791 239882794 CAGE_peak_25_at_CHRM3_5end
chr1 239882823 239882838 CAGE_peak_14_at_CHRM3_5end
chr1 239882842 239882850 CAGE_peak_22_at_CHRM3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I239353 239353199 239354290 0.2 [{'connected_gene': 'CHRM3', 'score': 12.0}, {'connected_gene': 'LOC105373223', 'score': 0.15}]
chr1 GH01I239242 239242913 239243452 0.38 [{'connected_gene': 'CHRM3', 'score': 10.65}, {'connected_gene': 'LOC105373223', 'score': 0.39}, {'connected_gene': 'GC01P239202', 'score': 0.26}]
chr1 GH01I239311 239311477 239311487 0.22 [{'connected_gene': 'CHRM3', 'score': 10.66}, {'connected_gene': 'LOC105373223', 'score': 0.22}, {'connected_gene': 'GC01P239202', 'score': 0.14}]
chr1 GH01I239368 239368076 239369822 0.31 [{'connected_gene': 'CHRM3', 'score': 0.37}, {'connected_gene': 'LOC105373223', 'score': 0.14}]
chr1 GH01I239337 239337840 239338760 0.2 [{'connected_gene': 'CHRM3', 'score': 11.71}, {'connected_gene': 'LOC105373223', 'score': 0.18}, {'connected_gene': 'GC01P239202', 'score': 0.12}]
chr1 GH01I239315 239315220 239316237 0.46 [{'connected_gene': 'CHRM3', 'score': 11.65}, {'connected_gene': 'LOC105373223', 'score': 0.21}, {'connected_gene': 'GC01P239202', 'score': 0.14}]
chr1 GH01I239361 239361389 239361775 0.4 [{'connected_gene': 'CHRM3', 'score': 17.36}, {'connected_gene': 'LOC105373223', 'score': 0.14}]
chr1 GH01I239809 239809472 239811743 0.52 [{'connected_gene': 'CHRM3', 'score': 11.03}, {'connected_gene': 'CHRM3-AS2', 'score': 0.18}, {'connected_gene': 'CHRM3-AS1', 'score': 0.17}]
chr1 GH01I239814 239814102 239815039 0.94 [{'connected_gene': 'CHRM3', 'score': 11.03}, {'connected_gene': 'CHRM3-AS2', 'score': 0.18}, {'connected_gene': 'CHRM3-AS1', 'score': 0.17}]
chr1 GH01I239547 239547521 239548656 0.2 [{'connected_gene': 'CHRM3', 'score': 10.51}, {'connected_gene': 'GC01P239578', 'score': 0.29}, {'connected_gene': 'GC01M239442', 'score': 0.28}]
chr1 GH01I239386 239386029 239388260 0.76 [{'connected_gene': 'CHRM3', 'score': 550.77}, {'connected_gene': 'GC01M239442', 'score': 0.13}]
chr1 GH01I239893 239893481 239893630 0.49 [{'connected_gene': 'CHRM3-AS1', 'score': 0.44}, {'connected_gene': 'CHRM3-AS2', 'score': 0.1}, {'connected_gene': 'CHRM3', 'score': 0.03}]
chr1 GH01I239897 239897801 239898475 0.89 [{'connected_gene': 'CHRM3-AS1', 'score': 550.77}, {'connected_gene': 'CHRM3-AS2', 'score': 0.1}, {'connected_gene': 'CHRM3', 'score': 0.03}]
chr1 GH01I239815 239815701 239817818 0.9 [{'connected_gene': 'CHRM3-AS1', 'score': 12.68}, {'connected_gene': 'CHRM3-AS2', 'score': 0.17}, {'connected_gene': 'CHRM3', 'score': 0.04}]
chr1 GH01I239717 239717158 239722421 0.96 [{'connected_gene': 'CHRM3-AS2', 'score': 15.24}, {'connected_gene': 'CHRM3', 'score': 11.33}, {'connected_gene': 'GC01P239706', 'score': 0.39}]
chr1 GH01I239805 239805801 239806200 0.38 [{'connected_gene': 'CHRM3-AS2', 'score': 0.18}, {'connected_gene': 'CHRM3-AS1', 'score': 0.16}, {'connected_gene': 'CHRM3', 'score': 0.05}]
chr1 GH01I239856 239856159 239858788 0.63 [{'connected_gene': 'CHRM3-AS2', 'score': 4.79}, {'connected_gene': 'CHRM3-AS1', 'score': 0.26}, {'connected_gene': 'CHRM3', 'score': 0.04}]
chr1 GH01I239730 239730428 239730736 0.27 [{'connected_gene': 'CHRM3-AS2', 'score': 550.77}, {'connected_gene': 'CHRM3-AS1', 'score': 0.1}, {'connected_gene': 'CHRM3', 'score': 0.05}]
chr1 GH01I239685 239685917 239686627 0.31 [{'connected_gene': 'GC01P239706', 'score': 0.34}, {'connected_gene': 'GC01P239659', 'score': 0.31}, {'connected_gene': 'CHRM3', 'score': 0.06}]
chr1 GH01I239910 239910379 239919350 0.63 [{'connected_gene': 'GC01P239911', 'score': 0.77}, {'connected_gene': 'GC01P239936', 'score': 0.34}, {'connected_gene': 'LOC105373224', 'score': 0.28}, {'connected_gene': 'CHRM3', 'score': 0.03}]