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
ENST00000210313 [[123578330, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123593608, 123593737], [123594109, 123594223], [123595589, 123595734], [123605014, 123605262]] [[123580183, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123593608, 123593737], [123594109, 123594223], [123595589, 123595734], [123605014, 123605187]]
ENST00000373904 [[123580073, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123594109, 123594223], [123595589, 123595734], [123605014, 123605229]] [[123580183, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123594109, 123594223], [123595589, 123595734], [123605014, 123605187]]
ENST00000476949 [[123593644, 123593737], [123594109, 123594223], [123605014, 123605189]] [[123594177, 123594223], [123605014, 123605187]]
ENST00000471789 [[123593947, 123594223], [123595589, 123595734], [123605014, 123605160]] None
ENST00000373920 [[123577773, 123578066], [123583116, 123583257], [123583632, 123583742], [123586771, 123586796]] [[123578000, 123578066], [123583116, 123583257], [123583632, 123583742], [123586771, 123586796]]
ENST00000604848 [[123578000, 123578066], [123583116, 123583257], [123583632, 123583719]] [[123578000, 123578066], [123583116, 123583257], [123583632, 123583719]]
ENST00000373903 [[123586407, 123586963], [123589042, 123589172]] None
ENST00000496688 [[123588872, 123589185], [123593608, 123593679]] None
NM_005047 [[123578330, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123593608, 123593737], [123594109, 123594223], [123595589, 123595734], [123605014, 123605299]] [[123580183, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123593608, 123593737], [123594109, 123594223], [123595589, 123595734], [123605014, 123605187]]
NM_001270427 [[123578330, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123594109, 123594223], [123595589, 123595734], [123605014, 123605299]] [[123580183, 123580441], [123583116, 123583257], [123583632, 123583742], [123586771, 123586963], [123589042, 123589185], [123591376, 123591486], [123594109, 123594223], [123595589, 123595734], [123605014, 123605187]]
Promoter
Chrom Start End Description
chr9 123605177 123605245 CAGE_peak_1_at_PSMD5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I120948 120948257 120949607 0.31 [{'connected_gene': 'TRAF1', 'score': 12.77}, {'connected_gene': 'PSMD5', 'score': 5.28}, {'connected_gene': 'CNTRL', 'score': 0.13}]
chr9 GH09I120888 120888373 120895365 1.51 [{'connected_gene': 'TRAF1', 'score': 36.29}, {'connected_gene': 'CUTALP', 'score': 27.21}, {'connected_gene': 'PSMD5', 'score': 20.77}, {'connected_gene': 'FBXW2', 'score': 16.2}, {'connected_gene': 'CNTRL', 'score': 9.71}, {'connected_gene': 'PHF19', 'score': 0.77}, {'connected_gene': 'PIR42449', 'score': 0.28}]
chr9 GH09I120923 120923211 120938455 2.74 [{'connected_gene': 'TRAF1', 'score': 572.95}, {'connected_gene': 'CUTALP', 'score': 42.09}, {'connected_gene': 'PSMD5', 'score': 16.86}, {'connected_gene': 'FBXW2', 'score': 12.03}, {'connected_gene': 'B3GNT10', 'score': 10.83}, {'connected_gene': 'CNTRL', 'score': 0.11}]
chr9 GH09I121639 121639171 121641534 1.14 [{'connected_gene': 'PSMD5', 'score': 10.73}, {'connected_gene': 'MRRF', 'score': 10.45}, {'connected_gene': 'ENSG00000229854', 'score': 0.21}, {'connected_gene': 'DAB2IP', 'score': 0.19}, {'connected_gene': 'LOC105376257', 'score': 0.15}]
chr9 GH09I120736 120736830 120738399 0.58 [{'connected_gene': 'PSMD5', 'score': 10.35}, {'connected_gene': 'AHCYP2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.22}]
chr9 GH09I121597 121597302 121600463 1.55 [{'connected_gene': 'PSMD5', 'score': 13.13}, {'connected_gene': 'CUTALP', 'score': 12.59}, {'connected_gene': 'MRRF', 'score': 11.75}, {'connected_gene': 'CNTRL', 'score': 11.69}, {'connected_gene': 'FBXW2', 'score': 9.86}, {'connected_gene': 'GGTA1P', 'score': 5.35}, {'connected_gene': 'ENSG00000229854', 'score': 0.34}, {'connected_gene': 'DAB2IP', 'score': 0.29}, {'connected_gene': 'LOC105376257', 'score': 0.12}]
chr9 GH09I120768 120768423 120770128 0.72 [{'connected_gene': 'PSMD5', 'score': 10.73}, {'connected_gene': 'CUTALP', 'score': 6.73}, {'connected_gene': 'FBXW2', 'score': 0.34}, {'connected_gene': 'PIR59216', 'score': 0.34}, {'connected_gene': 'AHCYP2', 'score': 0.25}]
chr9 GH09I120755 120755801 120756092 0.92 [{'connected_gene': 'PSMD5', 'score': 22.61}, {'connected_gene': 'CUTALP', 'score': 12.12}, {'connected_gene': 'MEGF9', 'score': 11.1}, {'connected_gene': 'AHCYP2', 'score': 0.28}, {'connected_gene': 'FBXW2', 'score': 0.28}, {'connected_gene': 'PIR59216', 'score': 0.28}]
chr9 GH09I121778 121778772 121780671 0.58 [{'connected_gene': 'PSMD5', 'score': 10.78}, {'connected_gene': 'CUTALP', 'score': 10.62}, {'connected_gene': 'PIR31642', 'score': 0.37}, {'connected_gene': 'ENSG00000261534', 'score': 0.28}, {'connected_gene': 'DAB2IP', 'score': 0.08}]
chr9 GH09I120845 120845842 120847142 0.4 [{'connected_gene': 'PSMD5', 'score': 11.58}, {'connected_gene': 'CUTALP', 'score': 7.85}, {'connected_gene': 'PIR34779', 'score': 0.77}, {'connected_gene': 'GC09P120844', 'score': 0.77}, {'connected_gene': 'PIR56908', 'score': 0.44}, {'connected_gene': 'GC09P120852', 'score': 0.44}]
chr9 GH09I120841 120841679 120844392 1.97 [{'connected_gene': 'PSMD5', 'score': 550.77}, {'connected_gene': 'PIR34779', 'score': 550.77}, {'connected_gene': 'GC09P120844', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 104.14}]
chr9 GH09I120839 120839283 120839432 0.2 [{'connected_gene': 'PSMD5', 'score': 0.77}, {'connected_gene': 'CUTALP', 'score': 0.39}]
chr9 GH09I121307 121307347 121311488 0.6 [{'connected_gene': 'PSMD5', 'score': 13.31}, {'connected_gene': 'ENSG00000270917', 'score': 12.38}, {'connected_gene': 'STOM', 'score': 12.15}, {'connected_gene': 'LOC102723324', 'score': 12.15}, {'connected_gene': 'GSN-AS1', 'score': 11.72}, {'connected_gene': 'ENSG00000239593', 'score': 11.69}, {'connected_gene': 'GSN', 'score': 11.53}, {'connected_gene': 'C5', 'score': 10.13}, {'connected_gene': 'GGTA1P', 'score': 10.13}, {'connected_gene': 'DAB2IP', 'score': 10.04}, {'connected_gene': 'TRAF1', 'score': 4.28}, {'connected_gene': 'PIR41790', 'score': 0.37}]
chr9 GH09I120765 120765876 120768398 1.02 [{'connected_gene': 'PSMD5', 'score': 10.53}, {'connected_gene': 'CNTRL', 'score': 9.74}, {'connected_gene': 'FBXW2', 'score': 0.31}, {'connected_gene': 'PIR59216', 'score': 0.31}, {'connected_gene': 'AHCYP2', 'score': 0.25}]
chr9 GH09I120965 120965306 120966960 0.89 [{'connected_gene': 'PSMD5', 'score': 27.51}, {'connected_gene': 'CNTRL', 'score': 18.23}, {'connected_gene': 'FBXW2', 'score': 15.65}, {'connected_gene': 'CUTALP', 'score': 14.6}, {'connected_gene': 'TRAF1', 'score': 13.1}, {'connected_gene': 'C5', 'score': 0.14}]
chr9 GH09I120578 120578740 120581192 2.07 [{'connected_gene': 'CDK5RAP2', 'score': 558.57}, {'connected_gene': 'PIR42935', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 25.44}, {'connected_gene': 'FBXW2', 'score': 25.31}, {'connected_gene': 'CNTRL', 'score': 10.68}, {'connected_gene': 'ENSG00000270917', 'score': 9.93}, {'connected_gene': 'MEGF9', 'score': 4.26}, {'connected_gene': 'PIR33352', 'score': 0.18}]
chr9 GH09I120569 120569990 120573316 1.13 [{'connected_gene': 'CDK5RAP2', 'score': 6.61}, {'connected_gene': 'PSMD5', 'score': 5.41}, {'connected_gene': 'PIR42935', 'score': 0.44}, {'connected_gene': 'PIR33352', 'score': 0.2}]
chr9 GH09I121267 121267376 121273508 2.35 [{'connected_gene': 'GSN', 'score': 566.99}, {'connected_gene': 'PSMD5', 'score': 16.31}, {'connected_gene': 'CNTRL', 'score': 15.88}, {'connected_gene': 'FBXW2', 'score': 15.62}, {'connected_gene': 'RAB14', 'score': 13.61}, {'connected_gene': 'CUTALP', 'score': 12.93}, {'connected_gene': 'MRRF', 'score': 10.91}, {'connected_gene': 'STOM', 'score': 10.87}, {'connected_gene': 'LOC102723324', 'score': 10.87}, {'connected_gene': 'C5', 'score': 10.78}, {'connected_gene': 'ENSG00000239593', 'score': 0.39}, {'connected_gene': 'LOC645482', 'score': 0.29}]
chr9 GH09I121275 121275157 121290453 2.26 [{'connected_gene': 'GSN', 'score': 562.44}, {'connected_gene': 'ENSG00000239593', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 16.32}, {'connected_gene': 'CNTRL', 'score': 15.87}, {'connected_gene': 'FBXW2', 'score': 15.62}, {'connected_gene': 'CUTALP', 'score': 13.25}, {'connected_gene': 'GGTA1P', 'score': 11.28}, {'connected_gene': 'MRRF', 'score': 10.91}, {'connected_gene': 'C5', 'score': 10.78}, {'connected_gene': 'STOM', 'score': 10.69}, {'connected_gene': 'LOC102723324', 'score': 10.69}, {'connected_gene': 'GSN-AS1', 'score': 0.77}]
chr9 GH09I121206 121206691 121208454 1.05 [{'connected_gene': 'GSN', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 15.75}, {'connected_gene': 'PSMD5', 'score': 10.62}, {'connected_gene': 'DAB2IP', 'score': 5.22}, {'connected_gene': 'RN7SL181P', 'score': 0.77}, {'connected_gene': 'RAB14', 'score': 0.37}]
chr9 GH09I120871 120871883 120880008 2.19 [{'connected_gene': 'PHF19', 'score': 550.37}, {'connected_gene': 'CUTALP', 'score': 28.24}, {'connected_gene': 'TRAF1', 'score': 24.22}, {'connected_gene': 'PSMD5', 'score': 6.17}, {'connected_gene': 'PIR42449', 'score': 0.34}]
chr9 GH09I120865 120865075 120867385 0.31 [{'connected_gene': 'CUTALP', 'score': 12.0}, {'connected_gene': 'TRAF1', 'score': 11.68}, {'connected_gene': 'PSMD5', 'score': 8.27}, {'connected_gene': 'PIR42449', 'score': 0.39}, {'connected_gene': 'PHF19', 'score': 0.31}]
chr9 GH09I120739 120739621 120742344 0.43 [{'connected_gene': 'CUTALP', 'score': 29.77}, {'connected_gene': 'PSMD5', 'score': 9.81}, {'connected_gene': 'AHCYP2', 'score': 0.34}, {'connected_gene': 'PIR59216', 'score': 0.23}]
chr9 GH09I120896 120896675 120898259 1.25 [{'connected_gene': 'CUTALP', 'score': 27.2}, {'connected_gene': 'FBXW2', 'score': 14.49}, {'connected_gene': 'PSMD5', 'score': 14.0}, {'connected_gene': 'TRAF1', 'score': 12.67}, {'connected_gene': 'CNTRL', 'score': 12.38}, {'connected_gene': 'ENSG00000239593', 'score': 10.21}, {'connected_gene': 'PHF19', 'score': 0.77}]
chr9 GH09I120916 120915636 120918255 1.08 [{'connected_gene': 'CUTALP', 'score': 27.46}, {'connected_gene': 'FBXW2', 'score': 22.61}, {'connected_gene': 'PSMD5', 'score': 17.42}, {'connected_gene': 'CNTRL', 'score': 12.66}, {'connected_gene': 'TRAF1', 'score': 7.43}, {'connected_gene': 'PHF19', 'score': 0.34}]
chr9 GH09I120734 120734402 120736800 1.28 [{'connected_gene': 'CUTALP', 'score': 31.19}, {'connected_gene': 'MEGF9', 'score': 12.83}, {'connected_gene': 'TRAF1', 'score': 10.93}, {'connected_gene': 'PSMD5', 'score': 8.36}, {'connected_gene': 'AHCYP2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.22}]
chr9 GH09I120666 120666435 120672797 0.6 [{'connected_gene': 'CUTALP', 'score': 41.02}, {'connected_gene': 'MEGF9', 'score': 12.22}, {'connected_gene': 'PSMD5', 'score': 12.19}, {'connected_gene': 'CNTRL', 'score': 10.12}, {'connected_gene': 'CDK5RAP2', 'score': 10.1}, {'connected_gene': 'PIR45570', 'score': 0.25}]
chr9 GH09I121366 121366710 121374168 2.52 [{'connected_gene': 'STOM', 'score': 556.46}, {'connected_gene': 'LOC102723324', 'score': 550.77}, {'connected_gene': 'GGTA1P', 'score': 21.35}, {'connected_gene': 'CUTALP', 'score': 18.66}, {'connected_gene': 'PSMD5', 'score': 13.13}, {'connected_gene': 'MRRF', 'score': 11.75}, {'connected_gene': 'CNTRL', 'score': 11.72}, {'connected_gene': 'FBXW2', 'score': 9.86}, {'connected_gene': 'GC09M121372', 'score': 0.77}]
chr9 GH09I120709 120709422 120716358 2.45 [{'connected_gene': 'MEGF9', 'score': 555.45}, {'connected_gene': 'CUTALP', 'score': 37.75}, {'connected_gene': 'CNTRL', 'score': 26.32}, {'connected_gene': 'PSMD5', 'score': 16.39}, {'connected_gene': 'FBXW2', 'score': 15.75}, {'connected_gene': 'PIR45570', 'score': 0.16}]
chr9 GH09I121397 121397647 121400599 1.24 [{'connected_gene': 'GGTA1P', 'score': 43.18}, {'connected_gene': 'PSMD5', 'score': 38.77}, {'connected_gene': 'CNTRL', 'score': 30.84}, {'connected_gene': 'FBXW2', 'score': 30.47}, {'connected_gene': 'MRRF', 'score': 29.97}, {'connected_gene': 'CUTALP', 'score': 25.28}, {'connected_gene': 'LOC102723324', 'score': 12.72}, {'connected_gene': 'STOM', 'score': 11.75}, {'connected_gene': 'GSN-AS1', 'score': 11.41}, {'connected_gene': 'ENSG00000239593', 'score': 11.41}, {'connected_gene': 'GSN', 'score': 11.36}, {'connected_gene': 'GC09M121372', 'score': 0.31}, {'connected_gene': 'LOC102724773', 'score': 0.23}]
chr9 GH09I121070 121070930 121076212 1.89 [{'connected_gene': 'CNTRL', 'score': 574.88}, {'connected_gene': 'C5', 'score': 570.4}, {'connected_gene': 'PSMD5', 'score': 66.58}, {'connected_gene': 'FBXW2', 'score': 46.83}, {'connected_gene': 'CUTALP', 'score': 13.69}, {'connected_gene': 'ENSG00000270917', 'score': 12.4}, {'connected_gene': 'TRAF1', 'score': 10.57}, {'connected_gene': 'DAB2IP', 'score': 10.01}]
chr9 GH09I121649 121649387 121653100 1.6 [{'connected_gene': 'ENSG00000229854', 'score': 11.54}, {'connected_gene': 'PSMD5', 'score': 10.73}, {'connected_gene': 'MRRF', 'score': 10.45}, {'connected_gene': 'DAB2IP', 'score': 7.01}, {'connected_gene': 'LOC105376257', 'score': 0.17}]
chr9 GH09I120851 120851594 120852945 0.51 [{'connected_gene': 'PIR56908', 'score': 550.77}, {'connected_gene': 'GC09P120852', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 11.18}, {'connected_gene': 'TRAF1', 'score': 10.88}, {'connected_gene': 'PIR42449', 'score': 0.77}, {'connected_gene': 'CUTALP', 'score': 0.31}]
chr9 GH09I120791 120791028 120794595 2.08 [{'connected_gene': 'B3GNT10', 'score': 550.77}, {'connected_gene': 'FBXW2', 'score': 550.77}, {'connected_gene': 'PIR59216', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 10.75}, {'connected_gene': 'CUTALP', 'score': 5.4}, {'connected_gene': 'AHCYP2', 'score': 0.19}]
chr9 GH09I121606 121606957 121610942 1.35 [{'connected_gene': 'ENSG00000229854', 'score': 12.29}, {'connected_gene': 'DAB2IP', 'score': 11.94}, {'connected_gene': 'PSMD5', 'score': 10.72}, {'connected_gene': 'MRRF', 'score': 10.45}, {'connected_gene': 'TRAF1', 'score': 4.17}, {'connected_gene': 'LOC105376257', 'score': 0.13}]

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