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
ENST00000285737 [[48278206, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48391260]] [[48278299, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385713]]
ENST00000535754 [[48278243, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385810]] [[48278299, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385713]]
ENST00000416006 [[48278265, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48370303, 48370409], [48381417, 48381527]] [[48278299, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48370303, 48370315]]
ENST00000566755 [[48278298, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385762]] [[48278299, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48303926, 48303942]]
ENST00000570174 [[48296686, 48296783], [48303926, 48304185], [48311248, 48311390], [48329995, 48330076], [48333572, 48333699], [48337082, 48337194]] [[48296686, 48296783], [48303926, 48304185], [48311248, 48311390], [48329995, 48330007]]
ENST00000565867 [[48368222, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385596], [48395615, 48397033]] [[48368222, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385596], [48395615, 48395774]]
ENST00000564259 [[48382006, 48382201], [48385491, 48385709], [48390575, 48390621], [48395387, 48395747]] None
ENST00000566719 [[48389596, 48390621], [48395387, 48396648]] None
ENST00000565185 [[48390359, 48390621], [48395387, 48395670], [48395764, 48395953]] None
NM_001300948 [[48278077, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48387890]] [[48278299, 48278532], [48286041, 48286276], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385713]]
NM_031490 [[48278077, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48387890]] [[48278299, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385713]]
NM_001348078 [[48278077, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385709], [48390575, 48390621], [48395387, 48396910]] [[48278299, 48278532], [48286041, 48286276], [48290520, 48290652], [48292528, 48292651], [48295334, 48295498], [48296688, 48296783], [48303926, 48304185], [48311248, 48311390], [48329925, 48330076], [48333572, 48333699], [48337082, 48337216], [48368126, 48368269], [48381417, 48381625], [48382010, 48382201], [48385491, 48385709], [48390575, 48390621], [48395387, 48395507]]
Promoter
Chrom Start End Description
chr16 48278178 48278336 CAGE_peak_1_at_LONP2_5end
chr16 48286069 48286096 CAGE_peak_2_at_LONP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I048605 48605432 48614402 2.6 [{'connected_gene': 'N4BP1', 'score': 574.46}, {'connected_gene': 'ENSG00000260052', 'score': 6.73}, {'connected_gene': 'ENSG00000261267', 'score': 5.18}, {'connected_gene': 'ENSG00000261538', 'score': 4.95}, {'connected_gene': 'LONP2', 'score': 2.49}, {'connected_gene': 'SIAH1', 'score': 2.49}, {'connected_gene': 'GC16P048601', 'score': 0.44}]
chr16 GH16I048339 48339872 48340306 0.24 [{'connected_gene': 'N4BP1', 'score': 4.16}, {'connected_gene': 'SIAH1', 'score': 2.98}, {'connected_gene': 'LONP2', 'score': 2.26}, {'connected_gene': 'UBA52P8', 'score': 0.44}, {'connected_gene': 'ENSG00000280067', 'score': 0.44}]
chr16 GH16I048121 48121900 48124961 1.04 [{'connected_gene': 'ABCC12', 'score': 11.7}, {'connected_gene': 'LONP2', 'score': 5.68}, {'connected_gene': 'ENSG00000261017', 'score': 0.21}]
chr16 GH16I048156 48156601 48157175 0.98 [{'connected_gene': 'ABCC12', 'score': 550.77}, {'connected_gene': 'LONP2', 'score': 5.98}, {'connected_gene': 'ENSG00000261538', 'score': 0.39}]
chr16 GH16I048251 48251050 48251159 0.31 [{'connected_gene': 'ABCC11', 'score': 0.77}, {'connected_gene': 'LONP2', 'score': 0.44}, {'connected_gene': 'GC16P048333', 'score': 0.18}]
chr16 GH16I048158 48158410 48158579 0.77 [{'connected_gene': 'LONP2', 'score': 6.97}, {'connected_gene': 'ABCC12', 'score': 0.77}, {'connected_gene': 'ENSG00000261538', 'score': 0.44}]
chr16 GH16I048408 48408579 48411809 1.17 [{'connected_gene': 'LONP2', 'score': 19.63}, {'connected_gene': 'ABCC11', 'score': 10.37}, {'connected_gene': 'GC16P048414', 'score': 0.77}, {'connected_gene': 'SIAH1', 'score': 0.28}, {'connected_gene': 'ENSG00000280067', 'score': 0.21}]
chr16 GH16I048630 48630001 48630848 1.02 [{'connected_gene': 'LONP2', 'score': 11.35}, {'connected_gene': 'ABCC11', 'score': 11.35}, {'connected_gene': 'ENSG00000260052', 'score': 6.0}, {'connected_gene': 'ENSG00000261267', 'score': 5.22}, {'connected_gene': 'ENSG00000260086', 'score': 0.44}, {'connected_gene': 'LOC105371240', 'score': 0.44}]
chr16 GH16I048299 48299003 48301059 0.84 [{'connected_gene': 'LONP2', 'score': 31.71}, {'connected_gene': 'ABCC11', 'score': 11.05}, {'connected_gene': 'GC16P048333', 'score': 0.29}]
chr16 GH16I048235 48235436 48236281 0.87 [{'connected_gene': 'LONP2', 'score': 10.91}, {'connected_gene': 'ABCC11', 'score': 0.39}, {'connected_gene': 'ENSG00000261538', 'score': 0.2}]
chr16 GH16I048294 48294989 48296447 0.57 [{'connected_gene': 'LONP2', 'score': 31.14}, {'connected_gene': 'ABCC11', 'score': 11.68}, {'connected_gene': 'GC16P048333', 'score': 0.28}]
chr16 GH16I048272 48272634 48273317 0.31 [{'connected_gene': 'LONP2', 'score': 0.31}, {'connected_gene': 'ABCC11', 'score': 0.31}, {'connected_gene': 'GC16P048333', 'score': 0.21}]
chr16 GH16I048275 48275603 48276981 0.66 [{'connected_gene': 'LONP2', 'score': 30.78}, {'connected_gene': 'ABCC11', 'score': 11.83}, {'connected_gene': 'GC16P048333', 'score': 0.22}]
chr16 GH16I048203 48203779 48205756 0.95 [{'connected_gene': 'LONP2', 'score': 23.64}, {'connected_gene': 'ABCC11', 'score': 20.92}, {'connected_gene': 'ENSG00000261538', 'score': 0.28}]
chr16 GH16I048317 48317461 48319875 0.95 [{'connected_gene': 'LONP2', 'score': 30.69}, {'connected_gene': 'ABCC11', 'score': 11.16}, {'connected_gene': 'GC16P048333', 'score': 0.39}]
chr16 GH16I048243 48243421 48246199 2.06 [{'connected_gene': 'LONP2', 'score': 569.41}, {'connected_gene': 'ABCC11', 'score': 11.16}]
chr16 GH16I048188 48188201 48188986 1.09 [{'connected_gene': 'LONP2', 'score': 4.46}, {'connected_gene': 'ENSG00000261538', 'score': 0.34}, {'connected_gene': 'ABCC11', 'score': 0.22}]
chr16 GH16I048479 48479365 48480447 1.08 [{'connected_gene': 'LONP2', 'score': 4.91}, {'connected_gene': 'SIAH1', 'score': 2.14}, {'connected_gene': 'N4BP1', 'score': 1.88}, {'connected_gene': 'LOC100526838', 'score': 0.44}, {'connected_gene': 'MOCS1P1', 'score': 0.37}]
chr16 GH16I048396 48396775 48397956 0.49 [{'connected_gene': 'LONP2', 'score': 8.22}, {'connected_gene': 'GC16P048414', 'score': 0.37}, {'connected_gene': 'SIAH1', 'score': 0.23}, {'connected_gene': 'ENSG00000280067', 'score': 0.23}]
chr16 GH16I048376 48376531 48377862 0.31 [{'connected_gene': 'LONP2', 'score': 7.11}, {'connected_gene': 'ENSG00000280067', 'score': 0.29}, {'connected_gene': 'GC16P048414', 'score': 0.28}, {'connected_gene': 'SIAH1', 'score': 0.19}]
chr16 GH16I048378 48378202 48379800 0.66 [{'connected_gene': 'LONP2', 'score': 21.64}, {'connected_gene': 'ENSG00000280067', 'score': 0.29}, {'connected_gene': 'GC16P048414', 'score': 0.28}, {'connected_gene': 'SIAH1', 'score': 0.2}]
chr16 GH16I048371 48371154 48374539 0.6 [{'connected_gene': 'LONP2', 'score': 21.17}, {'connected_gene': 'ENSG00000280067', 'score': 0.31}, {'connected_gene': 'GC16P048414', 'score': 0.26}, {'connected_gene': 'SIAH1', 'score': 0.18}]
chr16 GH16I048393 48393090 48394893 1.12 [{'connected_gene': 'LONP2', 'score': 21.05}, {'connected_gene': 'GC16P048414', 'score': 0.34}, {'connected_gene': 'ENSG00000280067', 'score': 0.25}, {'connected_gene': 'SIAH1', 'score': 0.23}]
chr16 GH16I048457 48457629 48459520 1.03 [{'connected_gene': 'LONP2', 'score': 4.44}, {'connected_gene': 'GC16P048460', 'score': 0.77}, {'connected_gene': 'SIAH1', 'score': 0.39}]
chr16 GH16I048405 48405261 48406931 0.67 [{'connected_gene': 'LONP2', 'score': 21.56}, {'connected_gene': 'GC16P048414', 'score': 0.44}, {'connected_gene': 'SIAH1', 'score': 0.26}, {'connected_gene': 'ENSG00000280067', 'score': 0.21}]
chr16 GH16I048444 48444170 48446113 0.96 [{'connected_gene': 'LONP2', 'score': 5.92}, {'connected_gene': 'ENSG00000261802', 'score': 0.77}, {'connected_gene': 'SIAH1', 'score': 0.77}, {'connected_gene': 'ENSG00000275909', 'score': 0.39}]
chr16 GH16I048503 48503430 48504449 0.46 [{'connected_gene': 'LONP2', 'score': 4.5}, {'connected_gene': 'MOCS1P1', 'score': 0.44}, {'connected_gene': 'PIR32085', 'score': 0.29}]
chr16 GH16I048478 48478012 48478866 0.38 [{'connected_gene': 'LONP2', 'score': 5.65}, {'connected_gene': 'LOC100526838', 'score': 0.44}, {'connected_gene': 'MOCS1P1', 'score': 0.37}]
chr16 GH16I047846 47846554 47849281 0.38 [{'connected_gene': 'LONP2', 'score': 4.19}, {'connected_gene': 'GC16M047838', 'score': 0.44}, {'connected_gene': 'LINC02192', 'score': 0.28}, {'connected_gene': 'LINC02133', 'score': 0.13}]
chr16 GH16I047573 47573488 47575308 0.79 [{'connected_gene': 'LONP2', 'score': 4.09}, {'connected_gene': 'EIF4BP5', 'score': 0.44}, {'connected_gene': 'GC16M047600', 'score': 0.34}, {'connected_gene': 'PHKB', 'score': 0.14}]
chr16 GH16I048053 48053198 48055400 0.87 [{'connected_gene': 'NETO2', 'score': 11.59}, {'connected_gene': 'LONP2', 'score': 6.03}, {'connected_gene': 'ENSG00000261017', 'score': 0.44}, {'connected_gene': 'LINC02134', 'score': 0.17}]
chr16 GH16I047459 47459225 47464187 2.26 [{'connected_gene': 'ITFG1', 'score': 550.77}, {'connected_gene': 'PHKB', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 22.99}, {'connected_gene': 'SIAH1', 'score': 11.22}, {'connected_gene': 'SHCBP1', 'score': 4.89}, {'connected_gene': 'GPT2', 'score': 4.44}, {'connected_gene': 'LONP2', 'score': 4.0}]
chr16 GH16I048364 48364347 48368085 2.51 [{'connected_gene': 'SIAH1', 'score': 565.96}, {'connected_gene': 'LONP2', 'score': 21.24}, {'connected_gene': 'N4BP1', 'score': 8.13}, {'connected_gene': 'ENSG00000280067', 'score': 0.34}, {'connected_gene': 'GC16P048414', 'score': 0.25}]
chr16 GH16I048497 48497916 48502265 1.06 [{'connected_gene': 'SIAH1', 'score': 13.59}, {'connected_gene': 'LONP2', 'score': 4.81}, {'connected_gene': 'MOCS1P1', 'score': 0.77}, {'connected_gene': 'PIR32085', 'score': 0.29}]
chr16 GH16I048361 48361373 48363130 0.67 [{'connected_gene': 'SIAH1', 'score': 13.01}, {'connected_gene': 'LONP2', 'score': 10.71}, {'connected_gene': 'ENSG00000280067', 'score': 0.37}, {'connected_gene': 'GC16P048414', 'score': 0.23}]
chr16 GH16I048354 48354955 48356174 0.51 [{'connected_gene': 'SIAH1', 'score': 12.03}, {'connected_gene': 'LONP2', 'score': 10.71}, {'connected_gene': 'ENSG00000280067', 'score': 0.44}, {'connected_gene': 'GC16P048414', 'score': 0.22}]
chr16 GH16I048353 48353190 48353959 1.08 [{'connected_gene': 'SIAH1', 'score': 12.03}, {'connected_gene': 'LONP2', 'score': 8.39}, {'connected_gene': 'ENSG00000280067', 'score': 0.44}, {'connected_gene': 'GC16P048414', 'score': 0.21}]
chr16 GH16I047491 47491233 47494833 1.49 [{'connected_gene': 'PHKB', 'score': 5.7}, {'connected_gene': 'LONP2', 'score': 4.11}, {'connected_gene': 'SHCBP1', 'score': 3.66}, {'connected_gene': 'PIR32661', 'score': 0.39}, {'connected_gene': 'ITFG1', 'score': 0.31}]
chr16 GH16I048334 48334588 48337465 0.31 [{'connected_gene': 'UBA52P8', 'score': 550.77}, {'connected_gene': 'GC16P048333', 'score': 0.77}, {'connected_gene': 'ENSG00000280067', 'score': 0.39}, {'connected_gene': 'LONP2', 'score': 0.16}]
chr16 GH16I048562 48562001 48562453 1.01 [{'connected_gene': 'PIR60022', 'score': 550.77}, {'connected_gene': 'PIR45350', 'score': 550.77}, {'connected_gene': 'N4BP1', 'score': 11.62}, {'connected_gene': 'ABCC11', 'score': 10.98}, {'connected_gene': 'LONP2', 'score': 10.98}, {'connected_gene': 'ENSG00000261267', 'score': 0.77}, {'connected_gene': 'RPS2P44', 'score': 0.37}]
chr16 GH16I048555 48555802 48559999 1.25 [{'connected_gene': 'ENSG00000261267', 'score': 555.85}, {'connected_gene': 'N4BP1', 'score': 32.9}, {'connected_gene': 'LONP2', 'score': 10.98}, {'connected_gene': 'ABCC11', 'score': 10.98}, {'connected_gene': 'ENSG00000260052', 'score': 6.1}, {'connected_gene': 'SIAH1', 'score': 4.39}, {'connected_gene': 'PIR50161', 'score': 0.39}]
chr16 GH16I048164 48164732 48166495 1.14 [{'connected_gene': 'ENSG00000261538', 'score': 550.77}, {'connected_gene': 'LONP2', 'score': 5.41}, {'connected_gene': 'ABCC12', 'score': 0.44}]
chr16 GH16I048195 48195190 48195399 0.78 [{'connected_gene': 'ENSG00000261538', 'score': 0.31}, {'connected_gene': 'LONP2', 'score': 0.25}, {'connected_gene': 'ABCC11', 'score': 0.23}]
chr16 GH16I048346 48346850 48348000 0.31 [{'connected_gene': 'ENSG00000280067', 'score': 550.77}, {'connected_gene': 'GC16P048414', 'score': 0.2}, {'connected_gene': 'LONP2', 'score': 0.15}]
chr16 GH16I048430 48430524 48435400 1.2 [{'connected_gene': 'ENSG00000275909', 'score': 550.77}, {'connected_gene': 'SIAH1', 'score': 16.98}, {'connected_gene': 'N4BP1', 'score': 16.97}, {'connected_gene': 'LONP2', 'score': 11.83}, {'connected_gene': 'ABCC11', 'score': 9.17}, {'connected_gene': 'GC16P048414', 'score': 0.37}]
chr16 GH16I048461 48461874 48463219 0.65 [{'connected_gene': 'GC16P048460', 'score': 550.77}, {'connected_gene': 'SIAH1', 'score': 14.09}, {'connected_gene': 'LONP2', 'score': 4.41}, {'connected_gene': 'LOC100526838', 'score': 0.44}]

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