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
ENST00000356126 [[65334031, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65362527, 65362743]] [[65336958, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65362527, 65362635]]
ENST00000357146 [[65335918, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65362527, 65362721]] [[65336958, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65362527, 65362635]]
ENST00000584008 [[65336889, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65357210, 65357377], [65358891, 65359008], [65362527, 65362663]] [[65358987, 65359008], [65362527, 65362635]]
ENST00000577724 [[65337090, 65337168], [65338301, 65338600]] None
ENST00000584289 [[65341727, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65362527, 65362684]] None
ENST00000581618 [[65346373, 65346452], [65351456, 65351538], [65353418, 65353694], [65362527, 65362703]] None
ENST00000579365 [[65346414, 65346452], [65353418, 65353547], [65353634, 65353694], [65357210, 65357377], [65362527, 65362693]] [[65357368, 65357377], [65362527, 65362635]]
ENST00000578015 [[65353267, 65353547], [65353634, 65353694], [65362527, 65362635]] None
NM_001316341 [[65334031, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65357210, 65357377], [65358891, 65359008], [65362527, 65362743]] [[65336958, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353538]]
NM_002816 [[65334031, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65362527, 65362743]] [[65336958, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65353634, 65353694], [65362527, 65362635]]
NM_174871 [[65334031, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65362527, 65362743]] [[65336958, 65337168], [65338301, 65338379], [65340721, 65340896], [65341860, 65341973], [65343231, 65343366], [65343451, 65343601], [65344665, 65344770], [65346344, 65346452], [65353418, 65353547], [65362527, 65362635]]
Promoter
Chrom Start End Description
chr17 65362651 65362662 CAGE_peak_2_at_PSMD12_5end
chr17 65362678 65362726 CAGE_peak_1_at_PSMD12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I067212 67212748 67213927 0.76 [{'connected_gene': 'HELZ', 'score': 12.17}, {'connected_gene': 'PSMD12', 'score': 10.24}, {'connected_gene': 'ENSG00000264421', 'score': 0.39}, {'connected_gene': 'GC17P067200', 'score': 0.39}]
chr17 GH17I067211 67211801 67212200 0.52 [{'connected_gene': 'HELZ', 'score': 12.17}, {'connected_gene': 'PSMD12', 'score': 10.24}, {'connected_gene': 'ENSG00000264421', 'score': 0.39}, {'connected_gene': 'GC17P067200', 'score': 0.39}]
chr17 GH17I067353 67353379 67354555 0.2 [{'connected_gene': 'HELZ', 'score': 11.07}, {'connected_gene': 'PSMD12', 'score': 0.39}, {'connected_gene': 'GC17M067328', 'score': 0.31}]
chr17 GH17I067343 67343074 67343369 0.44 [{'connected_gene': 'PSMD12', 'score': 12.32}, {'connected_gene': 'HELZ', 'score': 11.14}, {'connected_gene': 'BPTF', 'score': 2.41}, {'connected_gene': 'GC17M067328', 'score': 0.39}]
chr17 GH17I067334 67334810 67335283 0.52 [{'connected_gene': 'PSMD12', 'score': 11.17}, {'connected_gene': 'HELZ', 'score': 11.04}, {'connected_gene': 'GC17M067328', 'score': 0.44}]
chr17 GH17I067338 67338877 67340014 0.63 [{'connected_gene': 'PSMD12', 'score': 11.19}, {'connected_gene': 'HELZ', 'score': 11.03}, {'connected_gene': 'GC17M067328', 'score': 0.39}]
chr17 GH17I067486 67486358 67488000 1.03 [{'connected_gene': 'PSMD12', 'score': 11.72}, {'connected_gene': 'MIR548D2', 'score': 0.37}, {'connected_gene': 'GC17M067472', 'score': 0.37}, {'connected_gene': 'ENSG00000264754', 'score': 0.28}, {'connected_gene': 'PITPNC1', 'score': 0.14}]
chr17 GH17I067488 67488205 67488365 0.97 [{'connected_gene': 'PSMD12', 'score': 10.84}, {'connected_gene': 'MIR548D2', 'score': 0.37}, {'connected_gene': 'GC17M067472', 'score': 0.37}, {'connected_gene': 'ENSG00000264754', 'score': 0.28}, {'connected_gene': 'PITPNC1', 'score': 0.14}]
chr17 GH17I067399 67399705 67403868 1.24 [{'connected_gene': 'PSMD12', 'score': 17.63}, {'connected_gene': 'MIR548D2', 'score': 11.96}, {'connected_gene': 'MIR548AA2', 'score': 11.96}, {'connected_gene': 'PITPNC1', 'score': 7.4}, {'connected_gene': 'ENSG00000201547', 'score': 0.44}, {'connected_gene': 'GC17P067379', 'score': 0.34}, {'connected_gene': 'GC17P067378', 'score': 0.34}]
chr17 GH17I067400 67399211 67399572 0.31 [{'connected_gene': 'PSMD12', 'score': 12.79}, {'connected_gene': 'MIR548D2', 'score': 11.95}, {'connected_gene': 'MIR548AA2', 'score': 11.95}, {'connected_gene': 'ENSG00000201547', 'score': 0.44}, {'connected_gene': 'GC17P067379', 'score': 0.34}, {'connected_gene': 'PITPNC1', 'score': 0.34}, {'connected_gene': 'GC17P067378', 'score': 0.34}]
chr17 GH17I067779 67779000 67779761 1.07 [{'connected_gene': 'PSMD12', 'score': 4.81}, {'connected_gene': 'LRRC37A16P', 'score': 4.49}, {'connected_gene': 'RPSAP67', 'score': 0.77}, {'connected_gene': 'RPL17P41', 'score': 0.44}]
chr17 GH17I067480 67480801 67482634 1.18 [{'connected_gene': 'PSMD12', 'score': 14.19}, {'connected_gene': 'PITPNC1', 'score': 12.69}, {'connected_gene': 'HELZ', 'score': 1.52}, {'connected_gene': 'MIR548D2', 'score': 0.39}, {'connected_gene': 'GC17M067472', 'score': 0.39}, {'connected_gene': 'ENSG00000264754', 'score': 0.26}]
chr17 GH17I067490 67490010 67492669 1.62 [{'connected_gene': 'PSMD12', 'score': 12.35}, {'connected_gene': 'PITPNC1', 'score': 1.31}, {'connected_gene': 'HELZ', 'score': 1.17}, {'connected_gene': 'MIR548D2', 'score': 0.37}, {'connected_gene': 'GC17M067472', 'score': 0.37}, {'connected_gene': 'ENSG00000264754', 'score': 0.29}]
chr17 GH17I067577 67577836 67578418 0.69 [{'connected_gene': 'PSMD12', 'score': 10.68}, {'connected_gene': 'GC17P067605', 'score': 0.31}, {'connected_gene': 'ENSG00000264754', 'score': 0.23}, {'connected_gene': 'PITPNC1', 'score': 0.08}]
chr17 GH17I067629 67628785 67628934 0.75 [{'connected_gene': 'PSMD12', 'score': 10.69}, {'connected_gene': 'ENSG00000279361', 'score': 0.44}, {'connected_gene': 'GC17P067616', 'score': 0.39}, {'connected_gene': 'PITPNC1', 'score': 0.07}]
chr17 GH17I067630 67630045 67630194 0.54 [{'connected_gene': 'PSMD12', 'score': 10.69}, {'connected_gene': 'ENSG00000279361', 'score': 0.44}, {'connected_gene': 'GC17P067616', 'score': 0.39}, {'connected_gene': 'PITPNC1', 'score': 0.07}]
chr17 GH17I067573 67573965 67575733 0.8 [{'connected_gene': 'PSMD12', 'score': 10.86}, {'connected_gene': 'GC17P067605', 'score': 0.29}, {'connected_gene': 'ENSG00000264754', 'score': 0.23}, {'connected_gene': 'PITPNC1', 'score': 0.08}]
chr17 GH17I067628 67628565 67628734 0.76 [{'connected_gene': 'PSMD12', 'score': 10.69}, {'connected_gene': 'ENSG00000279361', 'score': 0.44}, {'connected_gene': 'GC17P067616', 'score': 0.39}, {'connected_gene': 'PITPNC1', 'score': 0.07}]
chr17 GH17I067489 67489346 67489669 0.72 [{'connected_gene': 'PSMD12', 'score': 10.98}, {'connected_gene': 'BPTF', 'score': 1.81}, {'connected_gene': 'HELZ', 'score': 1.77}, {'connected_gene': 'MIR548D2', 'score': 0.37}, {'connected_gene': 'GC17M067472', 'score': 0.37}, {'connected_gene': 'ENSG00000264754', 'score': 0.29}, {'connected_gene': 'PITPNC1', 'score': 0.14}]
chr17 GH17I067364 67364204 67367313 2.3 [{'connected_gene': 'PSMD12', 'score': 550.77}, {'connected_gene': 'BPTF', 'score': 21.73}, {'connected_gene': 'NOL11', 'score': 15.11}, {'connected_gene': 'HELZ', 'score': 14.47}, {'connected_gene': 'ENSG00000267731', 'score': 13.14}, {'connected_gene': 'GC17M067328', 'score': 0.28}]
chr17 GH17I067689 67689645 67689834 0.68 [{'connected_gene': 'PSMD12', 'score': 11.2}, {'connected_gene': 'GC17P067686', 'score': 0.77}, {'connected_gene': 'GC17P067695', 'score': 0.44}, {'connected_gene': 'LOC101928045', 'score': 0.31}, {'connected_gene': 'PITPNC1', 'score': 0.06}]
chr17 GH17I067473 67473599 67480199 1.54 [{'connected_gene': 'PITPNC1', 'score': 22.71}, {'connected_gene': 'PSMD12', 'score': 13.81}, {'connected_gene': 'HELZ', 'score': 4.58}, {'connected_gene': 'BPTF', 'score': 2.36}, {'connected_gene': 'GC17M067472', 'score': 0.44}, {'connected_gene': 'MIR548D2', 'score': 0.44}, {'connected_gene': 'GC17P067472', 'score': 0.44}, {'connected_gene': 'ENSG00000264754', 'score': 0.25}]
chr17 GH17I067418 67418853 67426135 1.55 [{'connected_gene': 'PITPNC1', 'score': 19.42}, {'connected_gene': 'PSMD12', 'score': 14.01}, {'connected_gene': 'MIR548D2', 'score': 12.33}, {'connected_gene': 'MIR548AA2', 'score': 12.33}, {'connected_gene': 'HELZ', 'score': 2.05}, {'connected_gene': 'BPTF', 'score': 1.62}, {'connected_gene': 'ENSG00000201547', 'score': 0.39}, {'connected_gene': 'RN7SL756P', 'score': 0.29}]
chr17 GH17I067398 67398673 67399034 0.48 [{'connected_gene': 'PITPNC1', 'score': 19.86}, {'connected_gene': 'PSMD12', 'score': 13.62}, {'connected_gene': 'MIR548D2', 'score': 12.06}, {'connected_gene': 'MIR548AA2', 'score': 12.06}, {'connected_gene': 'HELZ', 'score': 1.95}, {'connected_gene': 'BPTF', 'score': 1.65}, {'connected_gene': 'ENSG00000201547', 'score': 0.39}, {'connected_gene': 'GC17P067379', 'score': 0.34}, {'connected_gene': 'GC17P067378', 'score': 0.34}]
chr17 GH17I067426 67426614 67427378 0.31 [{'connected_gene': 'PITPNC1', 'score': 18.75}, {'connected_gene': 'PSMD12', 'score': 12.63}, {'connected_gene': 'MIR548D2', 'score': 11.94}, {'connected_gene': 'MIR548AA2', 'score': 11.94}, {'connected_gene': 'ENSG00000201547', 'score': 0.37}, {'connected_gene': 'RN7SL756P', 'score': 0.29}]
chr17 GH17I067603 67603085 67603274 0.67 [{'connected_gene': 'PITPNC1', 'score': 11.6}, {'connected_gene': 'PSMD12', 'score': 11.6}, {'connected_gene': 'MIR548D2', 'score': 11.41}, {'connected_gene': 'MIR548AA2', 'score': 11.41}, {'connected_gene': 'GC17P067605', 'score': 0.77}, {'connected_gene': 'ENSG00000264754', 'score': 0.18}]
chr17 GH17I067374 67374233 67375247 1.19 [{'connected_gene': 'PITPNC1', 'score': 9.11}, {'connected_gene': 'PSMD12', 'score': 0.44}]
chr17 GH17I067688 67688484 67689174 0.43 [{'connected_gene': 'NOL11', 'score': 19.56}, {'connected_gene': 'HELZ', 'score': 16.63}, {'connected_gene': 'BPTF', 'score': 12.93}, {'connected_gene': 'PSMD12', 'score': 11.2}, {'connected_gene': 'GC17P067686', 'score': 0.77}, {'connected_gene': 'GC17P067695', 'score': 0.44}, {'connected_gene': 'LOC101928045', 'score': 0.31}, {'connected_gene': 'PITPNC1', 'score': 0.06}]
chr17 GH17I067359 67359716 67360936 0.94 [{'connected_gene': 'BPTF', 'score': 12.67}, {'connected_gene': 'HELZ', 'score': 11.07}, {'connected_gene': 'ENSG00000267731', 'score': 9.98}, {'connected_gene': 'PSMD12', 'score': 0.44}, {'connected_gene': 'GC17M067328', 'score': 0.29}]
chr17 GH17I067509 67509585 67510754 1.28 [{'connected_gene': 'BPTF', 'score': 62.59}, {'connected_gene': 'NOL11', 'score': 49.74}, {'connected_gene': 'HELZ', 'score': 49.44}, {'connected_gene': 'LOC100418928', 'score': 28.37}, {'connected_gene': 'ENSG00000267731', 'score': 26.16}, {'connected_gene': 'PSMD12', 'score': 1.63}, {'connected_gene': 'ENSG00000264754', 'score': 0.39}, {'connected_gene': 'GC17M067472', 'score': 0.28}, {'connected_gene': 'MIR548D2', 'score': 0.28}, {'connected_gene': 'PITPNC1', 'score': 0.12}]
chr17 GH17I067606 67605305 67605454 0.52 [{'connected_gene': 'GC17P067605', 'score': 550.77}, {'connected_gene': 'PITPNC1', 'score': 11.6}, {'connected_gene': 'PSMD12', 'score': 11.6}, {'connected_gene': 'MIR548D2', 'score': 11.41}, {'connected_gene': 'MIR548AA2', 'score': 11.41}, {'connected_gene': 'ENSG00000264754', 'score': 0.18}]
chr17 GH17I067605 67605521 67607534 0.63 [{'connected_gene': 'GC17P067605', 'score': 550.77}, {'connected_gene': 'PITPNC1', 'score': 11.6}, {'connected_gene': 'PSMD12', 'score': 11.6}, {'connected_gene': 'MIR548AA2', 'score': 11.41}, {'connected_gene': 'MIR548D2', 'score': 11.41}, {'connected_gene': 'ENSG00000279917', 'score': 0.77}]
chr17 GH17I067406 67406740 67409068 0.54 [{'connected_gene': 'ENSG00000201547', 'score': 550.77}, {'connected_gene': 'PITPNC1', 'score': 12.46}, {'connected_gene': 'PSMD12', 'score': 12.43}, {'connected_gene': 'GC17P067379', 'score': 0.29}, {'connected_gene': 'GC17P067378', 'score': 0.29}]

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