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
ENST00000493559 [[123514255, 123515589], [123533625, 123533795], [123535031, 123535118], [123538370, 123538933]] None
ENST00000608872 [[123519251, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550556], [123555426, 123555535], [123555631, 123555690]] [[123526836, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550536]]
ENST00000340778 [[123526452, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123550046, 123550556], [123555426, 123555535], [123555637, 123555655]] [[123526836, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123550046, 123550536]]
ENST00000453291 [[123533688, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550464], [123555426, 123555535], [123555631, 123555660]] [[123533688, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550149]]
ENST00000474117 [[123538366, 123538504], [123540628, 123540823], [123550046, 123550556], [123555426, 123555645]] None
ENST00000476481 [[123550293, 123550556], [123555164, 123555535], [123555631, 123555658]] None
NM_012164 [[123519253, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550556], [123555426, 123555535], [123555631, 123555740]] [[123526836, 123527125], [123533625, 123533795], [123535031, 123535118], [123538370, 123538504], [123540628, 123540823], [123550046, 123550536]]
Promoter
Chrom Start End Description
chr9 123555536 123555572 CAGE_peak_2_at_FBXW2_5end
chr9 123555621 123555646 CAGE_peak_3_at_FBXW2_5end
chr9 123555655 123555712 CAGE_peak_1_at_FBXW2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 GH09I121192 121192502 121202800 2.45 [{'connected_gene': 'RAB14', 'score': 550.31}, {'connected_gene': 'CUTALP', 'score': 24.55}, {'connected_gene': 'C5', 'score': 18.57}, {'connected_gene': 'CNTRL', 'score': 13.19}, {'connected_gene': 'GSN-AS1', 'score': 11.43}, {'connected_gene': 'ENSG00000239593', 'score': 11.43}, {'connected_gene': 'FBXW2', 'score': 11.22}, {'connected_gene': 'LOC102723324', 'score': 11.05}, {'connected_gene': 'STOM', 'score': 10.57}, {'connected_gene': 'GGTA1P', 'score': 7.2}, {'connected_gene': 'TRAF1', 'score': 6.35}, {'connected_gene': 'DAB2IP', 'score': 5.42}, {'connected_gene': 'RN7SL181P', 'score': 0.44}, {'connected_gene': 'PIR40575', 'score': 0.39}]
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 GH09I120777 120777403 120777436 0.54 [{'connected_gene': 'FBXW2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.37}, {'connected_gene': 'AHCYP2', 'score': 0.22}]
chr9 GH09I120909 120909434 120910468 1 [{'connected_gene': 'CUTALP', 'score': 27.17}, {'connected_gene': 'TRAF1', 'score': 13.53}, {'connected_gene': 'FBXW2', 'score': 1.37}, {'connected_gene': 'PHF19', 'score': 0.37}]
chr9 GH09I120918 120918712 120921228 1.51 [{'connected_gene': 'CUTALP', 'score': 27.33}, {'connected_gene': 'TRAF1', 'score': 21.27}, {'connected_gene': 'FBXW2', 'score': 1.26}, {'connected_gene': 'PHF19', 'score': 0.31}]
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 GH09I120775 120775962 120776845 0.67 [{'connected_gene': 'CUTALP', 'score': 7.88}, {'connected_gene': 'FBXW2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.37}, {'connected_gene': 'AHCYP2', 'score': 0.22}]
chr9 GH09I120787 120787375 120789456 0.43 [{'connected_gene': 'CUTALP', 'score': 50.75}, {'connected_gene': 'PIR59216', 'score': 0.77}, {'connected_gene': 'FBXW2', 'score': 0.44}, {'connected_gene': 'AHCYP2', 'score': 0.2}]
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 GH09I120783 120783401 120784392 1.24 [{'connected_gene': 'MEGF9', 'score': 12.5}, {'connected_gene': 'TRAF1', 'score': 7.52}, {'connected_gene': 'FBXW2', 'score': 2.27}, {'connected_gene': 'PIR59216', 'score': 0.44}, {'connected_gene': 'AHCYP2', 'score': 0.21}]
chr9 GH09I120757 120757001 120757600 0.43 [{'connected_gene': 'MEGF9', 'score': 11.71}, {'connected_gene': 'AHCYP2', 'score': 0.28}, {'connected_gene': 'FBXW2', 'score': 0.28}, {'connected_gene': 'PIR59216', 'score': 0.28}]
chr9 GH09I120474 120474402 120476179 0.92 [{'connected_gene': 'MEGF9', 'score': 13.98}, {'connected_gene': 'FBXW2', 'score': 2.5}, {'connected_gene': 'PIR42824', 'score': 0.31}, {'connected_gene': 'GC09P120416', 'score': 0.22}, {'connected_gene': 'CDK5RAP2', 'score': 0.15}]
chr9 GH09I120778 120778376 120779512 0.89 [{'connected_gene': 'MEGF9', 'score': 11.87}, {'connected_gene': 'FBXW2', 'score': 0.39}, {'connected_gene': 'PIR59216', 'score': 0.39}, {'connected_gene': 'AHCYP2', 'score': 0.22}]
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 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 GH09I120772 120772751 120773984 0.38 [{'connected_gene': 'PIR59216', 'score': 0.37}, {'connected_gene': 'FBXW2', 'score': 0.34}, {'connected_gene': 'AHCYP2', 'score': 0.23}]