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
ENST00000357484 [[90443158, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455975, 90456188]] [[90445026, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455975, 90456067]]
ENST00000460685 [[90444106, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455283, 90455919]] [[90445026, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451524]]
ENST00000560096 [[90446080, 90446611], [90447008, 90447175]] [[90446369, 90446611], [90447008, 90447175]]
NM_001282380 [[90439763, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455283, 90455919]] [[90445026, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451524]]
NM_182616 [[90439763, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455975, 90456222]] [[90445026, 90445035], [90446447, 90446611], [90447008, 90447215], [90451511, 90451644], [90453975, 90454051], [90455975, 90456067]]
Promoter
Chrom Start End Description
chr15 90456156 90456198 CAGE_peak_1_at_C15orf38_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090398 90398202 90409399 1.77 [{'connected_gene': 'IQGAP1', 'score': 35.3}, {'connected_gene': 'ZNF774', 'score': 24.07}, {'connected_gene': 'CRTC3', 'score': 16.89}, {'connected_gene': 'RPL36AP43', 'score': 12.02}, {'connected_gene': 'ENSG00000259212', 'score': 11.41}, {'connected_gene': 'GABARAPL3', 'score': 11.23}, {'connected_gene': 'VPS33B', 'score': 10.59}, {'connected_gene': 'ARPIN', 'score': 10.45}, {'connected_gene': 'CIB1', 'score': 4.43}, {'connected_gene': 'ZNF710', 'score': 3.98}, {'connected_gene': 'FES', 'score': 2.29}, {'connected_gene': 'GDPGP1', 'score': 1.14}, {'connected_gene': 'ENSG00000259177', 'score': 0.44}, {'connected_gene': 'GC15P090381', 'score': 0.34}, {'connected_gene': 'GC15P090443', 'score': 0.28}]
chr15 GH15I089975 89975601 89976800 0.74 [{'connected_gene': 'ZNF710', 'score': 14.24}, {'connected_gene': 'MESP1', 'score': 10.18}, {'connected_gene': 'ARPIN', 'score': 1.34}, {'connected_gene': 'ENSG00000280377', 'score': 0.31}]
chr15 GH15I089997 89997925 90006282 2.69 [{'connected_gene': 'ZNF710', 'score': 557.94}, {'connected_gene': 'FANCI', 'score': 22.96}, {'connected_gene': 'NIFKP5', 'score': 13.96}, {'connected_gene': 'ENSG00000259212', 'score': 13.26}, {'connected_gene': 'ENSG00000259314', 'score': 13.0}, {'connected_gene': 'UNC45A', 'score': 12.97}, {'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'ENSG00000228998', 'score': 10.99}, {'connected_gene': 'PRC1', 'score': 10.73}, {'connected_gene': 'TICRR', 'score': 10.09}, {'connected_gene': 'IQGAP1', 'score': 7.4}, {'connected_gene': 'ARPIN', 'score': 5.36}, {'connected_gene': 'ANPEP', 'score': 1.24}, {'connected_gene': 'MIR3174', 'score': 0.77}]
chr15 GH15I089910 89910569 89914457 2.08 [{'connected_gene': 'ARPIN', 'score': 607.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 19.76}, {'connected_gene': 'LOC100631255', 'score': 14.5}, {'connected_gene': 'GC15P089898', 'score': 0.39}]
chr15 GH15I089917 89917629 89918498 0.69 [{'connected_gene': 'ARPIN', 'score': 34.82}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.44}, {'connected_gene': 'LOC100421368', 'score': 0.37}]
chr15 GH15I089361 89361810 89361919 1.11 [{'connected_gene': 'MIR9-3HG', 'score': 550.77}, {'connected_gene': 'ARPIN', 'score': 13.06}, {'connected_gene': 'RPL36AP43', 'score': 12.57}, {'connected_gene': 'ENSG00000173867', 'score': 11.93}, {'connected_gene': 'POLG', 'score': 11.87}, {'connected_gene': 'NIFKP5', 'score': 11.45}, {'connected_gene': 'GC15P089369', 'score': 0.44}, {'connected_gene': 'GC15P089367', 'score': 0.44}]
chr15 GH15I090860 90860392 90861087 0.94 [{'connected_gene': 'FES', 'score': 31.37}, {'connected_gene': 'NIFKP5', 'score': 16.88}, {'connected_gene': 'ENSG00000200677', 'score': 11.18}, {'connected_gene': 'MAN2A2', 'score': 11.15}, {'connected_gene': 'ARPIN', 'score': 10.46}, {'connected_gene': 'RN7SL363P', 'score': 0.77}, {'connected_gene': 'GC15P090862', 'score': 0.77}]
chr15 GH15I089898 89898601 89899980 1.18 [{'connected_gene': 'RNU7-111P', 'score': 550.77}, {'connected_gene': 'GC15P089898', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 57.33}, {'connected_gene': 'ANPEP', 'score': 5.67}, {'connected_gene': 'ARPIN', 'score': 2.39}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.39}]
chr15 GH15I090263 90263917 90267581 2.07 [{'connected_gene': 'CIB1', 'score': 550.77}, {'connected_gene': 'NGRN', 'score': 550.77}, {'connected_gene': 'ENSG00000275674', 'score': 550.77}, {'connected_gene': 'ENSG00000228998', 'score': 15.55}, {'connected_gene': 'TTLL13P', 'score': 13.26}, {'connected_gene': 'ARPIN', 'score': 13.08}, {'connected_gene': 'RPL36AP43', 'score': 12.55}, {'connected_gene': 'NIFKP5', 'score': 11.79}, {'connected_gene': 'GDPGP1', 'score': 11.32}, {'connected_gene': 'GABARAPL3', 'score': 10.12}, {'connected_gene': 'CRTC3', 'score': 9.94}, {'connected_gene': 'ZNF774', 'score': 9.6}, {'connected_gene': 'ENSG00000261147', 'score': 0.37}, {'connected_gene': 'ENSG00000284626', 'score': 0.29}]
chr15 GH15I089892 89892772 89895042 2.15 [{'connected_gene': 'AP3S2', 'score': 564.22}, {'connected_gene': 'POLG', 'score': 65.57}, {'connected_gene': 'ENSG00000259314', 'score': 42.43}, {'connected_gene': 'LOC100631255', 'score': 35.45}, {'connected_gene': 'NIFKP5', 'score': 29.49}, {'connected_gene': 'FANCI', 'score': 24.76}, {'connected_gene': 'ENSG00000259212', 'score': 22.82}, {'connected_gene': 'RPL36AP43', 'score': 22.75}, {'connected_gene': 'KIF7', 'score': 22.7}, {'connected_gene': 'ARPIN', 'score': 21.28}, {'connected_gene': 'WDR93', 'score': 13.56}, {'connected_gene': 'CRTC3', 'score': 12.9}, {'connected_gene': 'TICRR', 'score': 10.11}, {'connected_gene': 'MFGE8', 'score': 10.1}, {'connected_gene': 'GC15M089889', 'score': 0.44}, {'connected_gene': 'PIR40995', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.37}]
chr15 GH15I089855 89855935 89866501 1.08 [{'connected_gene': 'AP3S2', 'score': 72.79}, {'connected_gene': 'RNU6-1111P', 'score': 12.18}, {'connected_gene': 'RNU7-111P', 'score': 12.15}, {'connected_gene': 'C15orf38-AP3S2', 'score': 12.1}, {'connected_gene': 'ARPIN', 'score': 12.1}, {'connected_gene': 'MESP2', 'score': 11.8}, {'connected_gene': 'MESP1', 'score': 11.74}, {'connected_gene': 'ZNF710', 'score': 10.91}, {'connected_gene': 'PLIN1', 'score': 10.45}, {'connected_gene': 'ANPEP', 'score': 8.3}, {'connected_gene': 'MIR5094', 'score': 0.39}, {'connected_gene': 'LOC100631255', 'score': 0.39}]
chr15 GH15I089936 89936010 89936766 0.38 [{'connected_gene': 'LOC100421368', 'score': 550.77}, {'connected_gene': 'ARPIN', 'score': 0.34}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.34}]
chr15 GH15I089383 89383250 89384159 1.12 [{'connected_gene': 'RPL36AP43', 'score': 76.42}, {'connected_gene': 'NIFKP5', 'score': 74.01}, {'connected_gene': 'ENSG00000173867', 'score': 53.41}, {'connected_gene': 'ARPIN', 'score': 44.74}, {'connected_gene': 'ENSG00000228998', 'score': 18.96}, {'connected_gene': 'POLG', 'score': 11.22}, {'connected_gene': 'WDR93', 'score': 10.9}, {'connected_gene': 'DET1', 'score': 9.75}, {'connected_gene': 'MIR9-3HG', 'score': 9.02}, {'connected_gene': 'GC15P089381', 'score': 0.77}, {'connected_gene': 'PIR56199', 'score': 0.39}]
chr15 GH15I089412 89412870 89413666 0.49 [{'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.69}, {'connected_gene': 'MIR9-3', 'score': 12.36}, {'connected_gene': 'MIR9-3HG', 'score': 12.35}, {'connected_gene': 'KIF7', 'score': 12.28}, {'connected_gene': 'DET1', 'score': 12.03}, {'connected_gene': 'ARPIN', 'score': 10.07}, {'connected_gene': 'GC15M089390', 'score': 0.39}, {'connected_gene': 'LOC105371031', 'score': 0.39}]
chr15 GH15I089204 89204503 89205625 0.31 [{'connected_gene': 'GC15P089217', 'score': 550.77}, {'connected_gene': 'GC15P089216', 'score': 550.77}, {'connected_gene': 'GC15P089215', 'score': 550.77}, {'connected_gene': 'ENSG00000173867', 'score': 19.85}, {'connected_gene': 'RPL36AP43', 'score': 13.67}, {'connected_gene': 'KIF7', 'score': 12.26}, {'connected_gene': 'DET1', 'score': 12.04}, {'connected_gene': 'FANCI', 'score': 11.87}, {'connected_gene': 'ARPIN', 'score': 10.05}, {'connected_gene': 'POLG', 'score': 9.98}]