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
ENST00000220166 [[79213399, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237433]] [[79214471, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237323]]
ENST00000527715 [[79214106, 79214547], [79215334, 79215460], [79217675, 79219246]] None
ENST00000525807 [[79214110, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224786], [79237232, 79237404]] [[79220068, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224786], [79237232, 79237323]]
ENST00000533777 [[79214116, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79224383], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79230027, 79230165], [79231481, 79231513], [79237232, 79237388]] [[79230099, 79230165], [79231481, 79231513], [79237232, 79237323]]
ENST00000534237 [[79214458, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224210, 79224372]] None
ENST00000534533 [[79215400, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229376, 79229575]] None
ENST00000527138 [[79219548, 79220123], [79221753, 79221835], [79223792, 79223848], [79224210, 79224295]] None
ENST00000529612 [[79219950, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092]] None
ENST00000529861 [[79221752, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237119, 79237436]] [[79237197, 79237323]]
ENST00000528741 [[79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229838], [79231481, 79231513], [79241809, 79241916]] [[79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229660]]
ENST00000529263 [[79221782, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79230057]] None
ENST00000528191 [[79224226, 79224380], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229376, 79229528]] None
ENST00000534038 [[79224347, 79224383], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237388]] None
ENST00000530010 [[79227185, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237340]] None
ENST00000530929 [[79227188, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79241809, 79241843]] None
ENST00000534268 [[79229659, 79229765], [79231481, 79231513], [79236879, 79237363]] None
ENST00000528436 [[79229754, 79229838], [79231481, 79231513], [79237232, 79237384]] None
NM_001319137 [[79214091, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79224383], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79230027, 79230165], [79231481, 79231513], [79237232, 79237440]] [[79214471, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223938]]
NM_004390 [[79214091, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237440]] [[79214471, 79214547], [79215334, 79215460], [79217675, 79217782], [79220054, 79220123], [79221753, 79221835], [79223792, 79223848], [79224713, 79224800], [79227319, 79227424], [79228021, 79228092], [79229659, 79229765], [79231481, 79231513], [79237232, 79237323]]
Promoter
Chrom Start End Description
chr15 79229518 79229534 CAGE_peak_5_at_CTSH_5end
chr15 79229540 79229575 CAGE_peak_3_at_CTSH_5end
chr15 79229733 79229748 CAGE_peak_4_at_CTSH_5end
chr15 79237334 79237406 CAGE_peak_1_at_CTSH_5end
chr15 79237440 79237445 CAGE_peak_2_at_CTSH_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078759 78759435 78762399 1.09 [{'connected_gene': 'LOC646934', 'score': 14.61}, {'connected_gene': 'ADAMTS7P3', 'score': 14.4}, {'connected_gene': 'CHRNA5', 'score': 12.85}, {'connected_gene': 'CTSH', 'score': 5.52}, {'connected_gene': 'CHRNA3', 'score': 5.4}, {'connected_gene': 'WDR61', 'score': 4.88}, {'connected_gene': 'LOC105370914', 'score': 0.77}, {'connected_gene': 'MORF4L1', 'score': 0.25}, {'connected_gene': 'ADAMTS7', 'score': 0.23}]
chr15 GH15I078987 78987257 78991539 1.64 [{'connected_gene': 'RASGRF1', 'score': 4.58}, {'connected_gene': 'CTSH', 'score': 1.59}, {'connected_gene': 'GC15M078980', 'score': 0.44}, {'connected_gene': 'LOC105370917', 'score': 0.44}]
chr15 GH15I079005 79005709 79005768 0.5 [{'connected_gene': 'RASGRF1', 'score': 550.17}, {'connected_gene': 'LOC100129540', 'score': 12.2}, {'connected_gene': 'CTSH', 'score': 11.19}, {'connected_gene': 'LOC105370917', 'score': 0.44}, {'connected_gene': 'GC15P079059', 'score': 0.23}]
chr15 GH15I079002 79002386 79005648 1.77 [{'connected_gene': 'RASGRF1', 'score': 550.17}, {'connected_gene': 'LOC100129540', 'score': 12.2}, {'connected_gene': 'CTSH', 'score': 11.2}, {'connected_gene': 'LOC105370917', 'score': 0.44}, {'connected_gene': 'GC15P079059', 'score': 0.22}]
chr15 GH15I079024 79024433 79024833 0.68 [{'connected_gene': 'RASGRF1', 'score': 12.47}, {'connected_gene': 'LOC100129540', 'score': 11.21}, {'connected_gene': 'CTSH', 'score': 11.18}, {'connected_gene': 'LOC105370917', 'score': 0.31}, {'connected_gene': 'GC15P079059', 'score': 0.28}]
chr15 GH15I079184 79184459 79184668 0.68 [{'connected_gene': 'MIR184', 'score': 11.15}, {'connected_gene': 'LOC100129540', 'score': 9.86}, {'connected_gene': 'CTSH', 'score': 9.7}, {'connected_gene': 'GC15P079181', 'score': 0.77}, {'connected_gene': 'GC15P079204', 'score': 0.37}]
chr15 GH15I079322 79322207 79324014 0.38 [{'connected_gene': 'CTSH', 'score': 5.39}, {'connected_gene': 'TMED3', 'score': 0.39}, {'connected_gene': 'GC15P079414', 'score': 0.16}]
chr15 GH15I078925 78924244 78924645 0.55 [{'connected_gene': 'CTSH', 'score': 12.63}, {'connected_gene': 'RNU6-415P', 'score': 11.96}, {'connected_gene': 'LOC100129540', 'score': 11.75}, {'connected_gene': 'RASGRF1', 'score': 3.45}, {'connected_gene': 'ENSG00000279235', 'score': 0.37}]
chr15 GH15I078924 78924962 78925778 0.2 [{'connected_gene': 'CTSH', 'score': 25.61}, {'connected_gene': 'RNU6-415P', 'score': 11.96}, {'connected_gene': 'LOC100129540', 'score': 11.75}, {'connected_gene': 'ENSG00000279235', 'score': 0.37}]
chr15 GH15I078926 78926125 78926740 0.38 [{'connected_gene': 'CTSH', 'score': 25.68}, {'connected_gene': 'LOC100129540', 'score': 12.15}, {'connected_gene': 'ENSG00000279235', 'score': 0.34}]
chr15 GH15I078928 78928596 78930228 0.79 [{'connected_gene': 'CTSH', 'score': 26.69}, {'connected_gene': 'LOC100129540', 'score': 12.16}, {'connected_gene': 'ENSG00000279235', 'score': 0.34}]
chr15 GH15I078930 78930580 78932128 1 [{'connected_gene': 'CTSH', 'score': 20.28}, {'connected_gene': 'LOC100129540', 'score': 12.16}, {'connected_gene': 'ENSG00000279235', 'score': 0.31}]
chr15 GH15I078927 78926885 78928260 0.69 [{'connected_gene': 'CTSH', 'score': 31.56}, {'connected_gene': 'LOC100129540', 'score': 12.15}, {'connected_gene': 'ENSG00000279235', 'score': 0.34}]
chr15 GH15I078942 78942001 78942574 0.84 [{'connected_gene': 'CTSH', 'score': 23.85}, {'connected_gene': 'ENSG00000279235', 'score': 0.28}]
chr15 GH15I078935 78935486 78941651 1.33 [{'connected_gene': 'CTSH', 'score': 21.83}, {'connected_gene': 'ENSG00000279235', 'score': 0.29}]
chr15 GH15I078943 78943031 78945601 2.16 [{'connected_gene': 'CTSH', 'score': 572.75}, {'connected_gene': 'ENSG00000279235', 'score': 0.28}]
chr15 GH15I078949 78949486 78952708 1.06 [{'connected_gene': 'CTSH', 'score': 560.95}, {'connected_gene': 'GC15M078960', 'score': 0.44}]
chr15 GH15I078921 78921937 78923450 0.58 [{'connected_gene': 'ADAMTS7', 'score': 8.2}, {'connected_gene': 'MORF4L1', 'score': 7.75}, {'connected_gene': 'ENSG00000279235', 'score': 0.37}, {'connected_gene': 'CTSH', 'score': 0.31}]
chr15 GH15I078913 78913579 78918096 1.29 [{'connected_gene': 'MORF4L1', 'score': 7.54}, {'connected_gene': 'ADAMTS7P3', 'score': 4.94}, {'connected_gene': 'MTHFS', 'score': 4.27}, {'connected_gene': 'ENSG00000279235', 'score': 0.44}, {'connected_gene': 'CTSH', 'score': 0.29}]
chr15 GH15I078910 78909528 78909748 0.76 [{'connected_gene': 'MORF4L1', 'score': 5.87}, {'connected_gene': 'ENSG00000279235', 'score': 0.77}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078909 78909859 78910528 0.94 [{'connected_gene': 'MORF4L1', 'score': 7.69}, {'connected_gene': 'CHRNA5', 'score': 6.1}, {'connected_gene': 'ENSG00000279235', 'score': 0.77}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078878 78877967 78880805 1.2 [{'connected_gene': 'MORF4L1', 'score': 558.35}, {'connected_gene': 'LOC100129540', 'score': 11.28}, {'connected_gene': 'ADAMTS7', 'score': 8.04}, {'connected_gene': 'CTSH', 'score': 7.31}, {'connected_gene': 'RNU6-415P', 'score': 0.37}, {'connected_gene': 'RPL21P116', 'score': 0.37}]
chr15 GH15I078877 78877019 78877161 0.66 [{'connected_gene': 'RNU6-415P', 'score': 12.8}, {'connected_gene': 'ADAMTS7', 'score': 12.43}, {'connected_gene': 'LOC100129540', 'score': 11.27}, {'connected_gene': 'CTSH', 'score': 7.18}, {'connected_gene': 'MORF4L1', 'score': 6.5}, {'connected_gene': 'RPL21P116', 'score': 0.39}]
chr15 GH15I078754 78754331 78759028 1.45 [{'connected_gene': 'LOC105370914', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 14.21}, {'connected_gene': 'ADAMTS7P3', 'score': 11.97}, {'connected_gene': 'CHRNA5', 'score': 10.81}, {'connected_gene': 'CTSH', 'score': 4.86}, {'connected_gene': 'PIR36295', 'score': 0.77}, {'connected_gene': 'PIR58582', 'score': 0.77}]
chr15 GH15I078858 78858670 78862041 1.8 [{'connected_gene': 'TRK-CTT1-2', 'score': 550.77}, {'connected_gene': 'ADAMTS7', 'score': 26.26}, {'connected_gene': 'MORF4L1', 'score': 17.37}, {'connected_gene': 'ENSG00000259322', 'score': 16.25}, {'connected_gene': 'ENSG00000259562', 'score': 13.62}, {'connected_gene': 'IREB2', 'score': 12.75}, {'connected_gene': 'WDR61', 'score': 12.6}, {'connected_gene': 'TBC1D2B', 'score': 10.95}, {'connected_gene': 'CTSH', 'score': 10.03}, {'connected_gene': 'RASGRF1', 'score': 4.62}, {'connected_gene': 'LOC390614', 'score': 0.31}]
chr15 GH15I078976 78976250 78978195 1.19 [{'connected_gene': 'LOC100129540', 'score': 550.77}, {'connected_gene': 'RASGRF1', 'score': 9.24}, {'connected_gene': 'CTSH', 'score': 9.15}, {'connected_gene': 'GC15M078960', 'score': 0.37}]
chr15 GH15I079007 79007239 79007388 0.71 [{'connected_gene': 'LOC100129540', 'score': 11.98}, {'connected_gene': 'CTSH', 'score': 11.63}, {'connected_gene': 'LOC105370917', 'score': 0.44}, {'connected_gene': 'GC15P079059', 'score': 0.23}, {'connected_gene': 'RASGRF1', 'score': 0.18}]
chr15 GH15I078933 78933446 78934716 0.63 [{'connected_gene': 'LOC100129540', 'score': 12.18}, {'connected_gene': 'CTSH', 'score': 8.88}, {'connected_gene': 'ENSG00000279235', 'score': 0.31}]
chr15 GH15I078737 78737835 78738803 0.86 [{'connected_gene': 'PIR57186', 'score': 550.77}, {'connected_gene': 'GC15P078739', 'score': 550.77}, {'connected_gene': 'PIR39383', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 16.69}, {'connected_gene': 'CHRNA5', 'score': 14.32}, {'connected_gene': 'ADAMTS7P3', 'score': 11.54}, {'connected_gene': 'CTSH', 'score': 4.91}, {'connected_gene': 'DNM1P37', 'score': 0.77}]
chr15 GH15I078714 78714595 78716783 0.72 [{'connected_gene': 'ENSG00000259562', 'score': 24.59}, {'connected_gene': 'LOC646934', 'score': 18.71}, {'connected_gene': 'CHRNA5', 'score': 14.74}, {'connected_gene': 'IREB2', 'score': 12.9}, {'connected_gene': 'MORF4L1', 'score': 11.07}, {'connected_gene': 'ADAMTS7', 'score': 11.07}, {'connected_gene': 'WDR61', 'score': 10.67}, {'connected_gene': 'TBC1D2B', 'score': 10.58}, {'connected_gene': 'ENSG00000260988', 'score': 10.38}, {'connected_gene': 'CTSH', 'score': 4.78}, {'connected_gene': 'LOC105370913', 'score': 0.39}, {'connected_gene': 'CHRNB4', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.37}]
chr15 GH15I079185 79185279 79185388 0.59 [{'connected_gene': 'ENSG00000259562', 'score': 23.64}, {'connected_gene': 'ENSG00000259322', 'score': 15.2}, {'connected_gene': 'MIR184', 'score': 11.18}, {'connected_gene': 'WDR61', 'score': 10.72}, {'connected_gene': 'LOC100129540', 'score': 9.86}, {'connected_gene': 'IREB2', 'score': 9.78}, {'connected_gene': 'CTSH', 'score': 9.69}, {'connected_gene': 'GC15P079181', 'score': 0.77}, {'connected_gene': 'GC15P079204', 'score': 0.37}]
chr15 GH15I078912 78912690 78913566 0.63 [{'connected_gene': 'ENSG00000279235', 'score': 0.44}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078905 78905122 78907298 0.71 [{'connected_gene': 'ENSG00000279235', 'score': 550.77}, {'connected_gene': 'LOC100129540', 'score': 11.89}, {'connected_gene': 'CTSH', 'score': 11.51}, {'connected_gene': 'MORF4L1', 'score': 8.3}]
chr15 GH15I078907 78907699 78907868 0.52 [{'connected_gene': 'ENSG00000279235', 'score': 550.77}, {'connected_gene': 'LOC100129540', 'score': 11.89}, {'connected_gene': 'CTSH', 'score': 11.51}]

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