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
ENST00000336199 [[243651534, 243651752], [243663038, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006538]] [[243663044, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
ENST00000366540 [[243663020, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584], [244006845, 244006886]] [[243663044, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
ENST00000366539 [[243665064, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584], [244013341, 244013430]] [[243668550, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
ENST00000263826 [[243666483, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006553]] [[243668550, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
ENST00000552631 [[243809206, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584], [244014350, 244014381]] [[243809206, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
ENST00000463991 [[243828073, 243828185], [243858892, 243859018], [243977800, 243977984]] None
ENST00000490018 [[243858892, 243859018], [243898259, 243898418], [243898908, 243899049], [243971424, 243971536], [243981350, 243981476]] None
ENST00000550388 [[243898965, 243899049], [243902824, 243902915], [243905069, 243905109], [243952003, 243952128], [243977800, 243978032]] None
ENST00000492957 [[243775784, 243776336], [243776972, 243777041], [243778397, 243778448]] None
ENST00000491219 [[243850738, 243851174], [243858892, 243859018]] None
NM_181690 [[243651534, 243651752], [243663038, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584]] [[243663044, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
NM_005465 [[243663020, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584]] [[243668550, 243668636], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
NM_001206729 [[243663020, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006584], [244006845, 244006886]] [[243663044, 243663088], [243675625, 243675728], [243708811, 243708899], [243716030, 243716245], [243727021, 243727150], [243736227, 243736350], [243776972, 243777041], [243778397, 243778463], [243800912, 243801044], [243809194, 243809339], [243828073, 243828185], [243858892, 243859018], [244006426, 244006472]]
Promoter
Chrom Start End Description
chr1 243858960 243858965 CAGE_peak_26_at_AKT3_5end
chr1 243858974 243858986 CAGE_peak_21_at_AKT3_5end
chr1 243858988 243859000 CAGE_peak_6_at_AKT3_5end
chr1 243859011 243859022 CAGE_peak_7_at_AKT3_5end
chr1 244006470 244006494 CAGE_peak_8_at_AKT3_5end
chr1 244006504 244006519 CAGE_peak_10_at_AKT3_5end
chr1 244006528 244006588 CAGE_peak_3_at_AKT3_5end
chr1 244013384 244013410 CAGE_peak_2_at_AKT3_5end
chr1 244013519 244013624 CAGE_peak_1_at_AKT3_5end
chr1 244013888 244013905 CAGE_peak_4_at_AKT3_5end
chr1 244013911 244013933 CAGE_peak_5_at_AKT3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I243470 243470536 243474900 1.37 [{'connected_gene': 'CEP170', 'score': 3.17}, {'connected_gene': 'AKT3', 'score': 2.54}, {'connected_gene': 'GC01P243494', 'score': 0.34}, {'connected_gene': 'PIR38464', 'score': 0.26}, {'connected_gene': 'SDCCAG8', 'score': 0.08}]
chr1 GH01I243916 243916004 243918776 1.35 [{'connected_gene': 'LOC339529', 'score': 550.77}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'DESI2', 'score': 14.31}, {'connected_gene': 'AKT3', 'score': 13.29}, {'connected_gene': 'HNRNPU', 'score': 11.14}, {'connected_gene': 'ENSG00000236031', 'score': 9.99}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'CEP170', 'score': 4.68}]
chr1 GH01I244318 244318188 244327227 1.71 [{'connected_gene': 'HNRNPU', 'score': 30.54}, {'connected_gene': 'ADSS', 'score': 17.74}, {'connected_gene': 'C1orf100', 'score': 11.98}, {'connected_gene': 'AKT3', 'score': 4.99}, {'connected_gene': 'LOC105373262', 'score': 0.77}, {'connected_gene': 'GC01M244263', 'score': 0.22}]
chr1 GH01I244346 244346564 244351556 1.73 [{'connected_gene': 'ADSS', 'score': 29.85}, {'connected_gene': 'ENSG00000236031', 'score': 24.16}, {'connected_gene': 'DESI2', 'score': 14.34}, {'connected_gene': 'HNRNPU', 'score': 11.15}, {'connected_gene': 'LOC101928068', 'score': 10.9}, {'connected_gene': 'AKT3', 'score': 9.98}, {'connected_gene': 'C1orf100', 'score': 0.77}, {'connected_gene': 'LOC105373262', 'score': 0.34}]
chr1 GH01I244832 244832420 244838776 2.34 [{'connected_gene': 'COX20', 'score': 584.0}, {'connected_gene': 'DESI2', 'score': 38.57}, {'connected_gene': 'HNRNPU', 'score': 37.45}, {'connected_gene': 'ADSS', 'score': 29.37}, {'connected_gene': 'LOC101928068', 'score': 22.86}, {'connected_gene': 'AKT3', 'score': 21.88}]
chr1 GH01I243251 243251095 243257776 2.31 [{'connected_gene': 'SDCCAG8', 'score': 578.64}, {'connected_gene': 'CEP170', 'score': 556.12}, {'connected_gene': 'AKT3', 'score': 13.68}, {'connected_gene': 'ENSG00000236031', 'score': 13.32}, {'connected_gene': 'PLD5', 'score': 10.42}, {'connected_gene': 'ENSG00000232085', 'score': 0.17}]
chr1 GH01I243500 243500661 243501659 0.51 [{'connected_gene': 'SDCCAG8', 'score': 4.24}, {'connected_gene': 'LOC105373255', 'score': 0.77}, {'connected_gene': 'GC01M243501', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I243790 243790498 243793189 0.46 [{'connected_gene': 'SDCCAG8', 'score': 4.69}, {'connected_gene': 'AKT3-IT1', 'score': 0.77}, {'connected_gene': 'ENSG00000232184', 'score': 0.23}, {'connected_gene': 'AKT3', 'score': 0.22}]
chr1 GH01I243726 243726641 243729080 1.1 [{'connected_gene': 'SDCCAG8', 'score': 5.2}, {'connected_gene': 'ENSG00000232184', 'score': 0.39}, {'connected_gene': 'FABP7P1', 'score': 0.15}, {'connected_gene': 'AKT3', 'score': 0.13}]
chr1 GH01I243729 243729866 243733170 1.95 [{'connected_gene': 'SDCCAG8', 'score': 5.52}, {'connected_gene': 'ENSG00000232184', 'score': 0.44}, {'connected_gene': 'FABP7P1', 'score': 0.14}, {'connected_gene': 'AKT3', 'score': 0.13}]
chr1 GH01I243494 243494953 243497215 0.97 [{'connected_gene': 'LOC105373255', 'score': 550.77}, {'connected_gene': 'GC01P243494', 'score': 550.77}, {'connected_gene': 'SDCCAG8', 'score': 0.07}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I244046 244046005 244053384 3.01 [{'connected_gene': 'ZBTB18', 'score': 573.21}, {'connected_gene': 'DESI2', 'score': 24.02}, {'connected_gene': 'ENSG00000253326', 'score': 15.36}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'AKT3', 'score': 12.95}, {'connected_gene': 'HNRNPU', 'score': 12.83}, {'connected_gene': 'LINC01347', 'score': 11.61}, {'connected_gene': 'LOC101928068', 'score': 10.02}, {'connected_gene': 'ENSG00000236031', 'score': 9.97}, {'connected_gene': 'ADSS', 'score': 9.75}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'LOC440742', 'score': 0.39}, {'connected_gene': 'LOC339529', 'score': 0.12}]
chr1 GH01I243785 243785858 243787203 0.49 [{'connected_gene': 'AKT3-IT1', 'score': 0.44}, {'connected_gene': 'ENSG00000232184', 'score': 0.25}, {'connected_gene': 'AKT3', 'score': 0.21}]
chr1 GH01I243798 243798276 243800418 0.49 [{'connected_gene': 'AKT3-IT1', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.23}]
chr1 GH01I243786 243785601 243785800 0.2 [{'connected_gene': 'AKT3-IT1', 'score': 0.44}, {'connected_gene': 'ENSG00000232184', 'score': 0.26}, {'connected_gene': 'AKT3', 'score': 0.2}]
chr1 GH01I243803 243803139 243804191 0.51 [{'connected_gene': 'AKT3-IT1', 'score': 0.44}, {'connected_gene': 'AKT3', 'score': 0.25}]
chr1 GH01I243623 243623443 243624714 0.38 [{'connected_gene': 'FABP7P1', 'score': 550.77}, {'connected_gene': 'GC01M243625', 'score': 550.77}, {'connected_gene': 'GC01P243558', 'score': 0.2}, {'connected_gene': 'AKT3', 'score': 0.07}]
chr1 GH01I243420 243420601 243422606 1.77 [{'connected_gene': 'AKT3', 'score': 10.51}, {'connected_gene': 'CEP170', 'score': 4.88}, {'connected_gene': 'SDCCAG8', 'score': 1.76}, {'connected_gene': 'PIR38464', 'score': 0.44}, {'connected_gene': 'GC01P243396', 'score': 0.34}]
chr1 GH01I243477 243477801 243478141 0.47 [{'connected_gene': 'AKT3', 'score': 5.56}, {'connected_gene': 'CEP170', 'score': 3.5}, {'connected_gene': 'SDCCAG8', 'score': 1.45}, {'connected_gene': 'GC01P243494', 'score': 0.37}, {'connected_gene': 'PIR38464', 'score': 0.25}]
chr1 GH01I243848 243848004 243851745 1.7 [{'connected_gene': 'AKT3', 'score': 550.77}, {'connected_gene': 'CATSPERE', 'score': 14.14}, {'connected_gene': 'ENSG00000236031', 'score': 10.05}, {'connected_gene': 'DESI2', 'score': 9.7}, {'connected_gene': 'AKT3-IT1', 'score': 0.22}]
chr1 GH01I244341 244341083 244342558 1.49 [{'connected_gene': 'AKT3', 'score': 4.28}, {'connected_gene': 'ADSS', 'score': 3.83}, {'connected_gene': 'C1orf100', 'score': 0.39}, {'connected_gene': 'LOC105373262', 'score': 0.37}]
chr1 GH01I243841 243841072 243844028 1.33 [{'connected_gene': 'AKT3', 'score': 550.44}, {'connected_gene': 'SDCCAG8', 'score': 4.7}, {'connected_gene': 'AKT3-IT1', 'score': 0.25}]
chr1 GH01I244253 244253766 244255384 1.08 [{'connected_gene': 'AKT3', 'score': 2.26}, {'connected_gene': 'ZBTB18', 'score': 2.04}, {'connected_gene': 'ADSS', 'score': 1.62}, {'connected_gene': 'GC01M244263', 'score': 0.44}, {'connected_gene': 'LOC105373262', 'score': 0.19}, {'connected_gene': 'LOC105373261', 'score': 0.12}]
chr1 GH01I243827 243827201 243827600 0.31 [{'connected_gene': 'AKT3', 'score': 0.34}, {'connected_gene': 'AKT3-IT1', 'score': 0.29}]
chr1 GH01I244298 244298493 244304668 1.74 [{'connected_gene': 'ENSG00000236031', 'score': 11.61}, {'connected_gene': 'HNRNPU', 'score': 10.61}, {'connected_gene': 'DESI2', 'score': 10.41}, {'connected_gene': 'ADSS', 'score': 9.01}, {'connected_gene': 'AKT3', 'score': 4.57}, {'connected_gene': 'LOC105373262', 'score': 0.34}, {'connected_gene': 'GC01M244263', 'score': 0.28}]
chr1 GH01I243693 243693100 243696235 0.38 [{'connected_gene': 'ENSG00000236031', 'score': 10.33}, {'connected_gene': 'SDCCAG8', 'score': 5.43}, {'connected_gene': 'ENSG00000232184', 'score': 0.25}, {'connected_gene': 'FABP7P1', 'score': 0.2}, {'connected_gene': 'AKT3', 'score': 0.1}]
chr1 GH01I243712 243712794 243714833 1.86 [{'connected_gene': 'ENSG00000236031', 'score': 10.04}, {'connected_gene': 'SDCCAG8', 'score': 5.21}, {'connected_gene': 'ENSG00000232184', 'score': 0.31}, {'connected_gene': 'FABP7P1', 'score': 0.17}, {'connected_gene': 'AKT3', 'score': 0.12}]
chr1 GH01I243837 243837366 243839006 0.31 [{'connected_gene': 'ENSG00000236031', 'score': 10.44}, {'connected_gene': 'SDCCAG8', 'score': 5.84}, {'connected_gene': 'AKT3', 'score': 0.39}, {'connected_gene': 'AKT3-IT1', 'score': 0.26}]
chr1 GH01I243595 243595032 243599304 0.98 [{'connected_gene': 'ENSG00000236031', 'score': 10.77}, {'connected_gene': 'SDCCAG8', 'score': 5.5}, {'connected_gene': 'GC01M243625', 'score': 0.31}, {'connected_gene': 'GC01P243558', 'score': 0.28}, {'connected_gene': 'AKT3', 'score': 0.07}]
chr1 GH01I243488 243488639 243492353 0.96 [{'connected_gene': 'ENSG00000236031', 'score': 10.98}, {'connected_gene': 'GC01P243494', 'score': 0.77}, {'connected_gene': 'PIR38464', 'score': 0.22}, {'connected_gene': 'SDCCAG8', 'score': 0.07}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I243493 243493801 243494000 0.63 [{'connected_gene': 'GC01P243494', 'score': 550.77}, {'connected_gene': 'PIR38464', 'score': 0.21}, {'connected_gene': 'SDCCAG8', 'score': 0.07}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I243502 243502002 243502234 0.6 [{'connected_gene': 'GC01M243501', 'score': 550.77}, {'connected_gene': 'LOC105373255', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I244239 244239401 244239800 0.84 [{'connected_gene': 'ENSG00000236031', 'score': 29.8}, {'connected_gene': 'LOC101928068', 'score': 26.94}, {'connected_gene': 'HNRNPU', 'score': 26.76}, {'connected_gene': 'CATSPERE', 'score': 23.63}, {'connected_gene': 'COX20', 'score': 22.37}, {'connected_gene': 'DESI2', 'score': 19.23}, {'connected_gene': 'SDCCAG8', 'score': 18.57}, {'connected_gene': 'AKT3', 'score': 10.42}, {'connected_gene': 'GC01M244263', 'score': 0.34}, {'connected_gene': 'LOC105373262', 'score': 0.17}, {'connected_gene': 'LOC105373261', 'score': 0.13}]
chr1 GH01I243742 243742623 243743402 0.59 [{'connected_gene': 'ENSG00000232184', 'score': 0.77}, {'connected_gene': 'AKT3-IT1', 'score': 0.23}, {'connected_gene': 'AKT3', 'score': 0.14}]
chr1 GH01I243723 243723601 243723800 0.58 [{'connected_gene': 'ENSG00000232184', 'score': 0.37}, {'connected_gene': 'FABP7P1', 'score': 0.15}, {'connected_gene': 'AKT3', 'score': 0.13}]
chr1 GH01I243710 243710147 243711346 0.46 [{'connected_gene': 'ENSG00000232184', 'score': 0.29}, {'connected_gene': 'FABP7P1', 'score': 0.17}, {'connected_gene': 'AKT3', 'score': 0.11}]
chr1 GH01I243642 243642626 243643787 0.31 [{'connected_gene': 'ENSG00000236031', 'score': 10.51}, {'connected_gene': 'FABP7P1', 'score': 0.37}, {'connected_gene': 'ENSG00000232184', 'score': 0.15}, {'connected_gene': 'AKT3', 'score': 0.08}]
chr1 GH01I243734 243734200 243734601 0.71 [{'connected_gene': 'ENSG00000236031', 'score': 4.62}, {'connected_gene': 'ENSG00000232184', 'score': 0.44}, {'connected_gene': 'FABP7P1', 'score': 0.14}, {'connected_gene': 'AKT3', 'score': 0.13}]
chr1 GH01I243718 243718375 243720039 0.92 [{'connected_gene': 'ENSG00000232184', 'score': 0.34}, {'connected_gene': 'FABP7P1', 'score': 0.16}, {'connected_gene': 'AKT3', 'score': 0.12}]
chr1 GH01I243739 243739486 243741322 0.66 [{'connected_gene': 'ENSG00000232184', 'score': 550.77}, {'connected_gene': 'AKT3', 'score': 0.14}, {'connected_gene': 'FABP7P1', 'score': 0.13}]
chr1 GH01I243621 243621826 243622425 0.2 [{'connected_gene': 'ENSG00000236031', 'score': 10.47}, {'connected_gene': 'GC01M243625', 'score': 0.77}, {'connected_gene': 'GC01P243558', 'score': 0.21}, {'connected_gene': 'AKT3', 'score': 0.07}]
chr1 GH01I243505 243505868 243509572 1.34 [{'connected_gene': 'ENSG00000236031', 'score': 11.57}, {'connected_gene': 'GC01M243501', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I243573 243573050 243573328 0.58 [{'connected_gene': 'ENSG00000236031', 'score': 10.82}, {'connected_gene': 'GC01P243558', 'score': 0.39}, {'connected_gene': 'GC01M243625', 'score': 0.23}, {'connected_gene': 'AKT3', 'score': 0.06}]
chr1 GH01I243548 243548681 243551459 0.38 [{'connected_gene': 'GC01P243554', 'score': 0.77}, {'connected_gene': 'ENSG00000236031', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.06}]
chr1 GH01I243582 243582041 243583045 0.49 [{'connected_gene': 'ENSG00000236031', 'score': 11.26}, {'connected_gene': 'GC01P243558', 'score': 0.34}, {'connected_gene': 'GC01M243625', 'score': 0.26}, {'connected_gene': 'AKT3', 'score': 0.06}]
chr1 GH01I243524 243524652 243525814 0.87 [{'connected_gene': 'GC01M243501', 'score': 0.34}, {'connected_gene': 'ENSG00000236031', 'score': 0.34}, {'connected_gene': 'AKT3', 'score': 0.05}]
chr1 GH01I243568 243568939 243569088 0.31 [{'connected_gene': 'ENSG00000236031', 'score': 11.31}, {'connected_gene': 'GC01P243558', 'score': 0.39}, {'connected_gene': 'GC01M243625', 'score': 0.22}, {'connected_gene': 'AKT3', 'score': 0.06}]
chr1 GH01I243558 243558666 243558975 0.4 [{'connected_gene': 'GC01P243558', 'score': 550.77}, {'connected_gene': 'GC01P243554', 'score': 0.77}, {'connected_gene': 'AKT3', 'score': 0.06}]

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