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
ENST00000359193 [[27100831, 27103070]] [[27100850, 27101243]]
NM_021064 [[27100816, 27101314]] [[27100850, 27101243]]
Promoter
Chrom Start End Description
chr6 27100811 27100830 CAGE_peak_2_at_HIST1H2AG_5end
chr6 27806140 27806160 CAGE_peak_2_at_HIST1H2AK_5end,CAGE_peak_2_at_HIST1H2AM_5end,CAGE_peak_3_at_HIST1H2AG_5end,CAGE_peak_3_at_HIST1H2AH_5end,CAGE_peak_3_at_HIST1H2AI_5end,CAGE_peak_3_at_HIST1H2AL_5end
chr6 27860929 27860940 CAGE_peak_3_at_HIST1H2AK_5end,CAGE_peak_3_at_HIST1H2AM_5end,CAGE_peak_4_at_HIST1H2AG_5end,CAGE_peak_4_at_HIST1H2AH_5end,CAGE_peak_4_at_HIST1H2AI_5end,CAGE_peak_4_at_HIST1H2AL_5end
chr6 27860956 27860973 CAGE_peak_1_at_HIST1H2AG_5end,CAGE_peak_1_at_HIST1H2AH_5end,CAGE_peak_1_at_HIST1H2AI_5end,CAGE_peak_1_at_HIST1H2AK_5end,CAGE_peak_1_at_HIST1H2AL_5end,CAGE_peak_1_at_HIST1H2AM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I027126 27126529 27149515 2.57 [{'connected_gene': 'HIST1H2AH', 'score': 558.4}, {'connected_gene': 'HIST1H4I', 'score': 550.77}, {'connected_gene': 'GC06P027140', 'score': 550.77}, {'connected_gene': 'HIST1H2AG', 'score': 550.77}, {'connected_gene': 'HIST1H2BK', 'score': 550.44}, {'connected_gene': 'HIST1H2BJ', 'score': 550.44}, {'connected_gene': 'ZKSCAN8', 'score': 115.46}, {'connected_gene': 'ABT1', 'score': 100.36}, {'connected_gene': 'HMGN4', 'score': 77.02}, {'connected_gene': 'BTN2A1', 'score': 52.4}, {'connected_gene': 'BTN2A3P', 'score': 52.02}, {'connected_gene': 'ZNF322', 'score': 48.3}, {'connected_gene': 'BTN2A2', 'score': 46.31}, {'connected_gene': 'ZNF391', 'score': 41.79}, {'connected_gene': 'ENSG00000261839', 'score': 36.18}, {'connected_gene': 'LOC102724851', 'score': 35.7}, {'connected_gene': 'ZNF204P', 'score': 32.01}, {'connected_gene': 'HIST1H4K', 'score': 16.51}, {'connected_gene': 'BTN3A1', 'score': 14.65}, {'connected_gene': 'BTN3A3', 'score': 13.62}, {'connected_gene': 'RNU2-62P', 'score': 12.4}, {'connected_gene': 'GUSBP2', 'score': 12.12}, {'connected_gene': 'BTN3A2', 'score': 12.06}, {'connected_gene': 'ENSG00000271755', 'score': 11.69}, {'connected_gene': 'ZNF184', 'score': 11.22}, {'connected_gene': 'HIST1H3H', 'score': 10.93}, {'connected_gene': 'HIST1H2BL', 'score': 10.93}, {'connected_gene': 'HIST1H1D', 'score': 9.81}, {'connected_gene': 'LINC00240', 'score': 8.65}, {'connected_gene': 'IQCB2P', 'score': 3.89}, {'connected_gene': 'PIR51918', 'score': 0.44}, {'connected_gene': 'MIR3143', 'score': 0.44}, {'connected_gene': 'GC06P027137', 'score': 0.44}, {'connected_gene': 'GC06P027128', 'score': 0.44}, {'connected_gene': 'PIR56362', 'score': 0.44}, {'connected_gene': 'GC06P027135', 'score': 0.44}, {'connected_gene': 'GC06M027146', 'score': 0.44}, {'connected_gene': 'GC06M027132', 'score': 0.44}, {'connected_gene': 'GC06P027150', 'score': 0.44}, {'connected_gene': 'PIR46858', 'score': 0.44}, {'connected_gene': 'LOC105374995', 'score': 0.44}]
chr6 GH06I027176 27176026 27179199 1.56 [{'connected_gene': 'TRI-AAT5-2', 'score': 550.77}, {'connected_gene': 'BTN3A2', 'score': 34.82}, {'connected_gene': 'ZKSCAN8', 'score': 31.77}, {'connected_gene': 'BTN2A2', 'score': 28.88}, {'connected_gene': 'ABT1', 'score': 21.08}, {'connected_gene': 'BTN2A1', 'score': 20.74}, {'connected_gene': 'ZNF204P', 'score': 20.46}, {'connected_gene': 'HMGN4', 'score': 18.99}, {'connected_gene': 'ZNF391', 'score': 15.28}, {'connected_gene': 'HIST1H2BK', 'score': 13.05}, {'connected_gene': 'ZNF322', 'score': 12.86}, {'connected_gene': 'LOC102724851', 'score': 12.02}, {'connected_gene': 'ZNF192P1', 'score': 11.35}, {'connected_gene': 'POM121L2', 'score': 11.24}, {'connected_gene': 'ZNF603P', 'score': 10.71}, {'connected_gene': 'BTN2A3P', 'score': 9.98}, {'connected_gene': 'RNU6-471P', 'score': 9.87}, {'connected_gene': 'ZSCAN16-AS1', 'score': 9.78}, {'connected_gene': 'ZNF184', 'score': 1.83}, {'connected_gene': 'VN1R10P', 'score': 1.68}, {'connected_gene': 'HIST1H2AG', 'score': 1.55}, {'connected_gene': 'HIST1H2AH', 'score': 1.52}, {'connected_gene': 'HIST1H4I', 'score': 1.39}, {'connected_gene': 'TRV-CAC6-1', 'score': 0.31}, {'connected_gene': 'GC06M027207', 'score': 0.31}]