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
ENST00000287497 [[31271310, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309065, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31343089]] [[31271385, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309065, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31343028]]
ENST00000544665 [[31271314, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309062, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31344213]] [[31271385, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309062, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31343028]]
ENST00000567031 [[31286912, 31287020], [31287991, 31288065], [31288240, 31288370], [31308834, 31308975], [31335719, 31335760]] [[31286912, 31287020], [31287991, 31288065], [31288240, 31288370], [31308834, 31308975], [31335719, 31335760]]
ENST00000570242 [[31283205, 31283313], [31284685, 31285005]] None
ENST00000561838 [[31335998, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338289]] None
ENST00000567178 [[31339357, 31339551], [31340548, 31340624], [31341118, 31341226]] None
ENST00000569746 [[31340322, 31340624], [31341118, 31341373]] None
ENST00000565142 [[31341700, 31341742], [31341824, 31341926], [31342485, 31342857]] [[31341700, 31341742], [31341824, 31341926], [31342485, 31342695]]
NM_000632 [[31271287, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309065, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31344213]] [[31271385, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309065, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31343028]]
NM_001145808 [[31271287, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309062, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31344213]] [[31271385, 31271413], [31273012, 31273118], [31276715, 31276819], [31277131, 31277202], [31277350, 31277468], [31282274, 31282405], [31283167, 31283313], [31284685, 31284839], [31286869, 31287020], [31287991, 31288065], [31288240, 31288370], [31289287, 31289430], [31308834, 31308975], [31309062, 31309275], [31332561, 31332692], [31332784, 31332948], [31335719, 31335874], [31335971, 31336103], [31336278, 31336352], [31336583, 31336725], [31336820, 31336943], [31338176, 31338256], [31339467, 31339551], [31340548, 31340624], [31341118, 31341226], [31341401, 31341485], [31341628, 31341742], [31341824, 31341926], [31342485, 31342596], [31342956, 31343028]]
Promoter
Chrom Start End Description
chr16 31271243 31271270 CAGE_peak_3_at_ITGAM_5end
chr16 31271274 31271307 CAGE_peak_1_at_ITGAM_5end
chr16 31271322 31271339 CAGE_peak_2_at_ITGAM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I030994 30994400 30994843 1.34 [{'connected_gene': 'KAT8', 'score': 18.92}, {'connected_gene': 'SETD1A', 'score': 18.19}, {'connected_gene': 'ENSG00000260267', 'score': 15.67}, {'connected_gene': 'BCL7C', 'score': 12.7}, {'connected_gene': 'ENSG00000260304', 'score': 12.38}, {'connected_gene': 'SMG1P5', 'score': 12.01}, {'connected_gene': 'SRCAP', 'score': 11.69}, {'connected_gene': 'ZNF747', 'score': 10.55}, {'connected_gene': 'ZNF768', 'score': 9.96}, {'connected_gene': 'ITGAX', 'score': 9.33}, {'connected_gene': 'STX4', 'score': 8.75}, {'connected_gene': 'ZNF646', 'score': 4.69}, {'connected_gene': 'ITGAM', 'score': 2.14}, {'connected_gene': 'ZNF668', 'score': 2.07}, {'connected_gene': 'FUS', 'score': 2.02}, {'connected_gene': 'GC16P031001', 'score': 0.44}, {'connected_gene': 'GC16P031002', 'score': 0.44}, {'connected_gene': 'ENSG00000279196', 'score': 0.44}, {'connected_gene': 'STX1B', 'score': 0.37}]
chr16 GH16I031111 31111584 31115067 1.39 [{'connected_gene': 'KAT8', 'score': 26.72}, {'connected_gene': 'ITGAX', 'score': 24.33}, {'connected_gene': 'STX4', 'score': 19.31}, {'connected_gene': 'ZNF785', 'score': 16.32}, {'connected_gene': 'ZNF720', 'score': 14.03}, {'connected_gene': 'FUS', 'score': 13.41}, {'connected_gene': 'MIR762HG', 'score': 12.8}, {'connected_gene': 'ENSG00000260625', 'score': 10.74}, {'connected_gene': 'ZNF747', 'score': 10.64}, {'connected_gene': 'ZNF646', 'score': 6.99}, {'connected_gene': 'ITGAM', 'score': 5.96}, {'connected_gene': 'HSD3B7', 'score': 3.99}, {'connected_gene': 'ZNF668', 'score': 2.23}, {'connected_gene': 'PYCARD', 'score': 1.24}, {'connected_gene': 'BCKDK', 'score': 0.44}]
chr16 GH16I031116 31116460 31120364 2.57 [{'connected_gene': 'KAT8', 'score': 582.83}, {'connected_gene': 'ENSG00000262766', 'score': 569.89}, {'connected_gene': 'SRCAP', 'score': 55.73}, {'connected_gene': 'SETD1A', 'score': 52.42}, {'connected_gene': 'NPIPB13', 'score': 35.11}, {'connected_gene': 'ENSG00000260267', 'score': 31.48}, {'connected_gene': 'SMG1P5', 'score': 30.95}, {'connected_gene': 'STX4', 'score': 28.63}, {'connected_gene': 'PRR14', 'score': 27.28}, {'connected_gene': 'ENSG00000260304', 'score': 26.45}, {'connected_gene': 'ITGAX', 'score': 26.02}, {'connected_gene': 'SLX1A', 'score': 25.27}, {'connected_gene': 'ZNF764', 'score': 23.47}, {'connected_gene': 'FBRS', 'score': 22.11}, {'connected_gene': 'ENSG00000235560', 'score': 21.18}, {'connected_gene': 'RNF40', 'score': 20.56}, {'connected_gene': 'FUS', 'score': 20.44}, {'connected_gene': 'ZNF720', 'score': 20.33}, {'connected_gene': 'ZNF747', 'score': 18.83}, {'connected_gene': 'C16orf58', 'score': 11.25}, {'connected_gene': 'ZNF785', 'score': 11.09}, {'connected_gene': 'ENSG00000260625', 'score': 10.89}, {'connected_gene': 'BCL7C', 'score': 10.61}, {'connected_gene': 'ORAI3', 'score': 10.41}, {'connected_gene': 'ZNF629', 'score': 9.73}, {'connected_gene': 'ZNF646', 'score': 9.17}, {'connected_gene': 'ITGAM', 'score': 8.28}, {'connected_gene': 'ENSG00000260911', 'score': 5.58}, {'connected_gene': 'ZNF668', 'score': 3.68}, {'connected_gene': 'ARMC5', 'score': 2.84}, {'connected_gene': 'PYCARD', 'score': 1.35}, {'connected_gene': 'ENSG00000278133', 'score': 0.77}]
chr16 GH16I031351 31351201 31358414 2.16 [{'connected_gene': 'ITGAX', 'score': 585.66}, {'connected_gene': 'STX4', 'score': 19.26}, {'connected_gene': 'PYDC1', 'score': 10.34}, {'connected_gene': 'KAT8', 'score': 7.29}, {'connected_gene': 'ITGAM', 'score': 6.47}, {'connected_gene': 'ZNF646', 'score': 5.25}, {'connected_gene': 'ARMC5', 'score': 5.07}, {'connected_gene': 'ZNF764', 'score': 5.06}, {'connected_gene': 'HSD3B7', 'score': 4.92}, {'connected_gene': 'LOC647086', 'score': 4.72}, {'connected_gene': 'ENSG00000260911', 'score': 4.23}, {'connected_gene': 'TRIM72', 'score': 4.03}, {'connected_gene': 'FUS', 'score': 3.32}, {'connected_gene': 'ZNF668', 'score': 2.8}, {'connected_gene': 'PYCARD', 'score': 1.2}]
chr16 GH16I031349 31349801 31351029 1.27 [{'connected_gene': 'ITGAX', 'score': 30.72}, {'connected_gene': 'STX4', 'score': 16.88}, {'connected_gene': 'PYDC1', 'score': 15.77}, {'connected_gene': 'KAT8', 'score': 8.58}, {'connected_gene': 'ITGAM', 'score': 8.39}, {'connected_gene': 'ZNF646', 'score': 7.16}, {'connected_gene': 'ARMC5', 'score': 5.94}, {'connected_gene': 'HSD3B7', 'score': 5.36}, {'connected_gene': 'ZNF668', 'score': 4.89}, {'connected_gene': 'FUS', 'score': 2.8}, {'connected_gene': 'PYCARD', 'score': 2.26}]
chr16 GH16I031333 31333800 31333949 0.9 [{'connected_gene': 'ITGAX', 'score': 12.19}, {'connected_gene': 'TRIM72', 'score': 11.79}, {'connected_gene': 'PYCARD', 'score': 11.78}, {'connected_gene': 'PRSS8', 'score': 11.05}, {'connected_gene': 'ITGAM', 'score': 0.19}]
chr16 GH16I031328 31328020 31328169 0.57 [{'connected_gene': 'ITGAX', 'score': 0.31}, {'connected_gene': 'ITGAM', 'score': 0.2}]
chr16 GH16I031332 31331601 31331800 0.52 [{'connected_gene': 'ITGAX', 'score': 0.34}, {'connected_gene': 'ITGAM', 'score': 0.19}]
chr16 GH16I031350 31348801 31349200 0.72 [{'connected_gene': 'ITGAX', 'score': 0.44}, {'connected_gene': 'ITGAM', 'score': 0.17}]
chr16 GH16I031348 31348640 31348789 0.77 [{'connected_gene': 'ITGAX', 'score': 0.44}, {'connected_gene': 'ITGAM', 'score': 0.17}]
chr16 GH16I031331 31331201 31331400 0.38 [{'connected_gene': 'ITGAX', 'score': 6.11}, {'connected_gene': 'ITGAM', 'score': 0.19}]
chr16 GH16I031259 31259535 31261021 1.57 [{'connected_gene': 'ITGAM', 'score': 550.77}, {'connected_gene': 'PYDC1', 'score': 31.87}, {'connected_gene': 'PYCARD', 'score': 11.92}, {'connected_gene': 'PRSS36', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.14}, {'connected_gene': 'ITGAX', 'score': 0.16}]
chr16 GH16I031302 31302180 31302329 0.6 [{'connected_gene': 'PYCARD', 'score': 11.65}, {'connected_gene': 'PYDC1', 'score': 11.43}, {'connected_gene': 'FUS', 'score': 11.07}, {'connected_gene': 'STX4', 'score': 10.56}, {'connected_gene': 'STX1B', 'score': 10.55}, {'connected_gene': 'SETD1A', 'score': 10.29}, {'connected_gene': 'ITGAM', 'score': 0.26}, {'connected_gene': 'ITGAX', 'score': 0.23}]
chr16 GH16I031273 31273332 31275195 0.46 [{'connected_gene': 'PYCARD', 'score': 10.93}, {'connected_gene': 'PRSS36', 'score': 10.59}, {'connected_gene': 'ARMC5', 'score': 9.78}, {'connected_gene': 'SMG1P5', 'score': 5.11}, {'connected_gene': 'ITGAM', 'score': 0.39}, {'connected_gene': 'ITGAX', 'score': 0.18}]
chr16 GH16I031344 31344575 31345327 1.14 [{'connected_gene': 'PYCARD', 'score': 11.09}, {'connected_gene': 'PRSS36', 'score': 11.04}, {'connected_gene': 'ITGAX', 'score': 0.39}, {'connected_gene': 'ITGAM', 'score': 0.18}]
chr16 GH16I031247 31247920 31249021 0.43 [{'connected_gene': 'PYDC1', 'score': 33.23}, {'connected_gene': 'TRIM72', 'score': 12.51}, {'connected_gene': 'PYCARD', 'score': 12.46}, {'connected_gene': 'FUS', 'score': 11.27}, {'connected_gene': 'PRSS36', 'score': 10.91}, {'connected_gene': 'STX4', 'score': 10.35}, {'connected_gene': 'STX1B', 'score': 10.29}, {'connected_gene': 'LOC730183', 'score': 4.29}, {'connected_gene': 'GC16P031244', 'score': 0.44}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16 GH16I031245 31245160 31246586 0.43 [{'connected_gene': 'PYDC1', 'score': 16.39}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.6}, {'connected_gene': 'GC16P031244', 'score': 0.77}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16 GH16I031252 31252997 31254799 1.45 [{'connected_gene': 'PYDC1', 'score': 31.12}, {'connected_gene': 'PYCARD', 'score': 17.89}, {'connected_gene': 'TRIM72', 'score': 11.94}, {'connected_gene': 'PRSS36', 'score': 10.88}, {'connected_gene': 'ITGAM', 'score': 7.69}, {'connected_gene': 'ITGAX', 'score': 6.8}, {'connected_gene': 'ZNF646', 'score': 6.32}, {'connected_gene': 'ZNF668', 'score': 4.94}, {'connected_gene': 'STX4', 'score': 3.19}, {'connected_gene': 'KAT8', 'score': 2.97}, {'connected_gene': 'GC16P031244', 'score': 0.39}]
chr16 GH16I031264 31264589 31266677 0.92 [{'connected_gene': 'PYDC1', 'score': 32.8}, {'connected_gene': 'PYCARD', 'score': 11.67}, {'connected_gene': 'PRSS36', 'score': 10.82}, {'connected_gene': 'HSD3B7', 'score': 3.81}, {'connected_gene': 'ITGAM', 'score': 0.44}, {'connected_gene': 'ITGAX', 'score': 0.17}]
chr16 GH16I031125 31125779 31136497 2.72 [{'connected_gene': 'ENSG00000261385', 'score': 550.77}, {'connected_gene': 'PRSS8', 'score': 550.77}, {'connected_gene': 'SRCAP', 'score': 59.99}, {'connected_gene': 'SETD1A', 'score': 48.02}, {'connected_gene': 'ENSG00000260267', 'score': 47.25}, {'connected_gene': 'SMG1P5', 'score': 42.93}, {'connected_gene': 'ZNF764', 'score': 39.77}, {'connected_gene': 'ENSG00000260304', 'score': 37.67}, {'connected_gene': 'KAT8', 'score': 33.43}, {'connected_gene': 'BCL7C', 'score': 33.01}, {'connected_gene': 'ZNF646', 'score': 28.34}, {'connected_gene': 'TGFB1I1', 'score': 23.95}, {'connected_gene': 'ITGAX', 'score': 21.8}, {'connected_gene': 'FUS', 'score': 19.68}, {'connected_gene': 'ITGAM', 'score': 18.52}, {'connected_gene': 'FBRS', 'score': 17.89}, {'connected_gene': 'ORAI3', 'score': 17.81}, {'connected_gene': 'ZNF668', 'score': 16.78}, {'connected_gene': 'PRR14', 'score': 15.66}, {'connected_gene': 'NPIPB13', 'score': 11.16}, {'connected_gene': 'ZNF689', 'score': 11.14}, {'connected_gene': 'ENSG00000262766', 'score': 11.07}, {'connected_gene': 'ZNF768', 'score': 10.76}, {'connected_gene': 'ENSG00000235560', 'score': 10.37}, {'connected_gene': 'C16orf58', 'score': 10.15}, {'connected_gene': 'STX4', 'score': 8.7}, {'connected_gene': 'HSD3B7', 'score': 7.67}, {'connected_gene': 'PYCARD', 'score': 6.61}, {'connected_gene': 'ENSG00000260911', 'score': 5.03}, {'connected_gene': 'ENSG00000260487', 'score': 4.54}, {'connected_gene': 'ARMC5', 'score': 2.86}, {'connected_gene': 'PHKG2', 'score': 1.96}, {'connected_gene': 'ENSG00000278133', 'score': 0.44}]
chr16 GH16I031243 31243832 31244800 0.97 [{'connected_gene': 'GC16P031244', 'score': 550.77}, {'connected_gene': 'PYDC1', 'score': 29.58}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.61}, {'connected_gene': 'ZNF764', 'score': 7.48}, {'connected_gene': 'ITGAM', 'score': 0.37}]

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