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
ENST00000294543 [[20008705, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107259], [20113518, 20113610], [20124629, 20124708], [20126347, 20126410]] [[20009532, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107251]]
ENST00000375127 [[20008732, 20009207], [20009780, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107259], [20113518, 20113610], [20125666, 20125837]] [[20009121, 20009207], [20009780, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107251]]
ENST00000489814 [[20008734, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20064714, 20064912]] None
ENST00000375122 [[20008753, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107259], [20113518, 20113610], [20124629, 20124708], [20126347, 20126410]] [[20009532, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107251]]
ENST00000494342 [[20020984, 20021044], [20027260, 20027703]] None
ENST00000489135 [[20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107257]] None
ENST00000496528 [[20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107259], [20113518, 20113610], [20126347, 20126438]] None
ENST00000462171 [[20076573, 20076865], [20082126, 20082259], [20097034, 20097062], [20097800, 20097920]] None
ENST00000488449 [[20097838, 20097975], [20107072, 20107259], [20113518, 20113610], [20124563, 20124708], [20126347, 20126433]] None
NM_181719 [[20008705, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107259], [20113518, 20113610], [20124629, 20124708], [20126347, 20126410]] [[20009532, 20009937], [20020926, 20021044], [20027260, 20027378], [20063864, 20063949], [20066316, 20066453], [20067269, 20067434], [20072024, 20072144], [20072948, 20073092], [20073655, 20073753], [20082126, 20082259], [20097034, 20097062], [20097800, 20097975], [20107072, 20107251]]
Promoter
Chrom Start End Description
chr1 20113550 20113568 CAGE_peak_5_at_TMCO4_5end
chr1 20113572 20113583 CAGE_peak_11_at_TMCO4_5end
chr1 20126365 20126414 CAGE_peak_1_at_TMCO4_5end
chr1 20126548 20126564 CAGE_peak_6_at_TMCO4_5end
chr1 20126808 20126822 CAGE_peak_13_at_TMCO4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I019474 19474642 19479855 1.53 [{'connected_gene': 'AKR7A2', 'score': 7.06}, {'connected_gene': 'CAPZB', 'score': 5.06}, {'connected_gene': 'PLA2G2E', 'score': 5.04}, {'connected_gene': 'UBR4', 'score': 2.25}, {'connected_gene': 'TMCO4', 'score': 1.14}, {'connected_gene': 'PIR41915', 'score': 0.39}]
chr1 GH01I019866 19866288 19867665 0.69 [{'connected_gene': 'RNF186', 'score': 11.09}, {'connected_gene': 'ENSG00000235434', 'score': 11.09}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'OTUD3', 'score': 5.99}, {'connected_gene': 'PIR53184', 'score': 0.39}, {'connected_gene': 'LOC105376823', 'score': 0.34}, {'connected_gene': 'GC01M019829', 'score': 0.28}]
chr1 GH01I019786 19786528 19787577 0.6 [{'connected_gene': 'RNF186', 'score': 11.15}, {'connected_gene': 'ENSG00000235434', 'score': 11.15}, {'connected_gene': 'TMCO4', 'score': 0.39}, {'connected_gene': 'GC01P019759', 'score': 0.31}]
chr1 GH01I019812 19812396 19817724 1.75 [{'connected_gene': 'RNF186', 'score': 550.77}, {'connected_gene': 'ENSG00000235434', 'score': 550.77}, {'connected_gene': 'OTUD3', 'score': 18.43}, {'connected_gene': 'EMC1', 'score': 10.88}, {'connected_gene': 'TMCO4', 'score': 7.93}]
chr1 GH01I019859 19859613 19862522 0.83 [{'connected_gene': 'HP1BP3', 'score': 18.1}, {'connected_gene': 'OTUD3', 'score': 12.06}, {'connected_gene': 'RNF186', 'score': 11.11}, {'connected_gene': 'ENSG00000235434', 'score': 11.11}, {'connected_gene': 'EMC1', 'score': 10.92}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'PIR53184', 'score': 0.37}, {'connected_gene': 'LOC105376823', 'score': 0.31}, {'connected_gene': 'GC01M019829', 'score': 0.29}]
chr1 GH01I019715 19715401 19716001 1.03 [{'connected_gene': 'HTR6', 'score': 11.11}, {'connected_gene': 'TMCO4', 'score': 10.06}, {'connected_gene': 'PIR33395', 'score': 0.29}, {'connected_gene': 'GC01P019759', 'score': 0.26}]
chr1 GH01I019687 19687324 19689919 0.59 [{'connected_gene': 'HTR6', 'score': 36.08}, {'connected_gene': 'PIR33395', 'score': 0.44}, {'connected_gene': 'GC01P019680', 'score': 0.44}, {'connected_gene': 'GC01P019759', 'score': 0.19}, {'connected_gene': 'TMCO4', 'score': 0.14}]
chr1 GH01I019689 19689948 19690097 0.46 [{'connected_gene': 'HTR6', 'score': 12.49}, {'connected_gene': 'PIR33395', 'score': 0.44}, {'connected_gene': 'GC01P019680', 'score': 0.44}, {'connected_gene': 'GC01P019759', 'score': 0.2}, {'connected_gene': 'TMCO4', 'score': 0.14}]
chr1 GH01I019798 19798085 19801362 1.94 [{'connected_gene': 'TMCO4', 'score': 560.68}, {'connected_gene': 'AKR7A2', 'score': 5.44}, {'connected_gene': 'GC01P019759', 'score': 0.28}]
chr1 GH01I019600 19600317 19600478 0.7 [{'connected_gene': 'TMCO4', 'score': 1.43}, {'connected_gene': 'MINOS1', 'score': 0.77}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.77}, {'connected_gene': 'RPS14P3', 'score': 0.44}]
chr1 GH01I019764 19764505 19766790 1.3 [{'connected_gene': 'TMCO4', 'score': 20.52}, {'connected_gene': 'AKR7A3', 'score': 11.34}, {'connected_gene': 'RNF186', 'score': 10.86}, {'connected_gene': 'ENSG00000235434', 'score': 10.86}, {'connected_gene': 'PLA2G2A', 'score': 1.33}, {'connected_gene': 'GC01P019759', 'score': 0.44}]
chr1 GH01I019737 19737395 19740496 0.52 [{'connected_gene': 'TMCO4', 'score': 15.1}, {'connected_gene': 'GC01P019759', 'score': 0.34}, {'connected_gene': 'PIR33395', 'score': 0.22}]
chr1 GH01I019784 19784573 19784865 0.24 [{'connected_gene': 'TMCO4', 'score': 0.37}, {'connected_gene': 'GC01P019759', 'score': 0.34}]
chr1 GH01I019804 19804332 19805699 0.2 [{'connected_gene': 'TMCO4', 'score': 9.93}, {'connected_gene': 'ENSG00000235434', 'score': 0.44}]
chr1 GH01I019809 19809730 19811959 0.57 [{'connected_gene': 'TMCO4', 'score': 9.51}, {'connected_gene': 'ENSG00000235434', 'score': 0.77}]
chr1 GH01I019863 19863029 19864750 0.75 [{'connected_gene': 'OTUD3', 'score': 23.59}, {'connected_gene': 'EMC1', 'score': 11.35}, {'connected_gene': 'RNF186', 'score': 11.11}, {'connected_gene': 'ENSG00000235434', 'score': 11.11}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'PIR53184', 'score': 0.39}, {'connected_gene': 'LOC105376823', 'score': 0.31}, {'connected_gene': 'GC01M019829', 'score': 0.29}]
chr1 GH01I019682 19682368 19682517 0.31 [{'connected_gene': 'PIR33395', 'score': 550.77}, {'connected_gene': 'GC01P019680', 'score': 550.77}, {'connected_gene': 'HTR6', 'score': 8.06}, {'connected_gene': 'GC01P019679', 'score': 0.77}, {'connected_gene': 'TMCO4', 'score': 0.13}]
chr1 GH01I019757 19757389 19760186 0.99 [{'connected_gene': 'GC01P019759', 'score': 550.77}, {'connected_gene': 'TMCO4', 'score': 18.15}, {'connected_gene': 'RNF186', 'score': 10.85}, {'connected_gene': 'ENSG00000235434', 'score': 10.85}, {'connected_gene': 'PIR33395', 'score': 0.18}]
chr1 GH01I019704 19704234 19704934 0.9 [{'connected_gene': 'PIR33395', 'score': 0.34}, {'connected_gene': 'GC01P019680', 'score': 0.34}, {'connected_gene': 'GC01P019759', 'score': 0.22}, {'connected_gene': 'TMCO4', 'score': 0.15}]
chr1 GH01I019734 19734208 19736862 0.96 [{'connected_gene': 'GC01P019759', 'score': 0.34}, {'connected_gene': 'PIR33395', 'score': 0.23}, {'connected_gene': 'TMCO4', 'score': 0.21}]
chr1 GH01I019725 19725648 19725797 0.31 [{'connected_gene': 'GC01P019759', 'score': 0.29}, {'connected_gene': 'PIR33395', 'score': 0.26}, {'connected_gene': 'TMCO4', 'score': 0.19}]
chr1 GH01I019749 19749590 19752820 1.07 [{'connected_gene': 'GC01P019759', 'score': 0.44}, {'connected_gene': 'TMCO4', 'score': 0.25}, {'connected_gene': 'PIR33395', 'score': 0.2}]
chr1 GH01I019753 19753412 19756032 0.88 [{'connected_gene': 'GC01P019759', 'score': 0.44}, {'connected_gene': 'TMCO4', 'score': 0.25}, {'connected_gene': 'PIR33395', 'score': 0.19}]
chr1 GH01I019742 19742939 19746725 0.54 [{'connected_gene': 'GC01P019759', 'score': 0.37}, {'connected_gene': 'TMCO4', 'score': 0.22}, {'connected_gene': 'PIR33395', 'score': 0.21}]
chr1 GH01I019747 19747908 19748057 0.4 [{'connected_gene': 'GC01P019759', 'score': 0.39}, {'connected_gene': 'TMCO4', 'score': 0.23}, {'connected_gene': 'PIR33395', 'score': 0.21}]