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
NM_021052 [[26217147, 26217711]] [[26217202, 26217595]]
Promoter
Chrom Start End Description
chr6 26033837 26033852 CAGE_peak_1_at_HIST1H2AB_5end,CAGE_peak_2_at_HIST1H2AE_5end
chr6 26217140 26217155 CAGE_peak_1_at_HIST1H2AE_5end
chr6 26217159 26217170 CAGE_peak_2_at_HIST1H2AB_5end,CAGE_peak_3_at_HIST1H2AE_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I026275 26275308 26278180 0.49 [{'connected_gene': 'HIST1H3E', 'score': 7.03}, {'connected_gene': 'HIST1H2AE', 'score': 5.93}, {'connected_gene': 'HIST1H4H', 'score': 5.79}, {'connected_gene': 'HIST1H2BI', 'score': 0.77}, {'connected_gene': 'LOC105374985', 'score': 0.44}]
chr6 GH06I026222 26222294 26227436 2.18 [{'connected_gene': 'HIST1H3E', 'score': 565.07}, {'connected_gene': 'ABT1', 'score': 55.65}, {'connected_gene': 'ZNF322', 'score': 53.69}, {'connected_gene': 'GUSBP2', 'score': 42.58}, {'connected_gene': 'BTN2A2', 'score': 35.39}, {'connected_gene': 'BTN2A1', 'score': 32.64}, {'connected_gene': 'HMGN4', 'score': 25.46}, {'connected_gene': 'HCG11', 'score': 13.8}, {'connected_gene': 'BTN2A3P', 'score': 13.65}, {'connected_gene': 'HIST1H2AE', 'score': 11.96}, {'connected_gene': 'ENSG00000272462', 'score': 4.77}, {'connected_gene': 'HIST1H2APS3', 'score': 0.44}]
chr6 GH06I025232 25232422 25233262 0.2 [{'connected_gene': 'HIST1H3D', 'score': 4.3}, {'connected_gene': 'HIST1H2AE', 'score': 4.02}, {'connected_gene': 'LOC100533655', 'score': 0.39}, {'connected_gene': 'GC06P025221', 'score': 0.39}, {'connected_gene': 'KATNBL1P5', 'score': 0.37}]
chr6 GH06I026120 26120087 26127861 2.85 [{'connected_gene': 'HIST1H2AC', 'score': 552.85}, {'connected_gene': 'PIR44445', 'score': 550.77}, {'connected_gene': 'HIST1H2BC', 'score': 550.77}, {'connected_gene': 'PIR32750', 'score': 550.77}, {'connected_gene': 'PIR33095', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 61.93}, {'connected_gene': 'HMGN4', 'score': 48.11}, {'connected_gene': 'BTN2A3P', 'score': 41.78}, {'connected_gene': 'BTN2A1', 'score': 40.03}, {'connected_gene': 'BTN2A2', 'score': 31.27}, {'connected_gene': 'ENSG00000272462', 'score': 28.42}, {'connected_gene': 'NUP50P2', 'score': 22.39}, {'connected_gene': 'BTN3A1', 'score': 13.66}, {'connected_gene': 'BTN3A3', 'score': 10.54}, {'connected_gene': 'HFE', 'score': 9.93}, {'connected_gene': 'HIST1H1D', 'score': 9.92}, {'connected_gene': 'BTN3A2', 'score': 8.7}, {'connected_gene': 'HIST1H1C', 'score': 7.05}, {'connected_gene': 'HIST1H2APS5', 'score': 6.41}, {'connected_gene': 'HIST1H4F', 'score': 2.02}, {'connected_gene': 'HIST1H4E', 'score': 1.89}, {'connected_gene': 'HIST1H1E', 'score': 1.78}, {'connected_gene': 'HIST1H4A', 'score': 1.75}, {'connected_gene': 'HIST1H2BH', 'score': 1.57}, {'connected_gene': 'HIST1H3C', 'score': 1.57}, {'connected_gene': 'HIST1H4B', 'score': 1.49}, {'connected_gene': 'HIST1H2AE', 'score': 1.38}, {'connected_gene': 'HIST1H3F', 'score': 1.36}, {'connected_gene': 'HIST1H2AB', 'score': 1.31}, {'connected_gene': 'HIST1H3A', 'score': 1.3}, {'connected_gene': 'HIST1H4H', 'score': 1.28}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
chr6 GH06I026231 26231122 26231425 0.43 [{'connected_gene': 'HIST1H2APS3', 'score': 550.77}, {'connected_gene': 'HIST1H3E', 'score': 14.74}, {'connected_gene': 'HIST1H2AE', 'score': 11.35}]
chr6 GH06I026193 26193488 26208095 2.35 [{'connected_gene': 'HIST1H2AD', 'score': 550.77}, {'connected_gene': 'RPS10P1', 'score': 550.77}, {'connected_gene': 'HIST1H4E', 'score': 550.77}, {'connected_gene': 'HIST1H3D', 'score': 550.77}, {'connected_gene': 'HIST1H2BF', 'score': 550.77}, {'connected_gene': 'ENSG00000282988', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 69.38}, {'connected_gene': 'HMGN4', 'score': 55.25}, {'connected_gene': 'BTN2A3P', 'score': 45.73}, {'connected_gene': 'BTN2A1', 'score': 44.0}, {'connected_gene': 'BTN2A2', 'score': 30.15}, {'connected_gene': 'BTN3A2', 'score': 28.34}, {'connected_gene': 'HIST1H3E', 'score': 25.36}, {'connected_gene': 'BTN3A1', 'score': 13.87}, {'connected_gene': 'HIST1H2AE', 'score': 12.55}, {'connected_gene': 'HIST1H2BE', 'score': 11.87}, {'connected_gene': 'LARP1P1', 'score': 11.83}, {'connected_gene': 'HIST1H2APS3', 'score': 11.83}, {'connected_gene': 'HIST1H2BD', 'score': 10.81}, {'connected_gene': 'HIST1H1E', 'score': 10.81}, {'connected_gene': 'HIST1H4F', 'score': 10.71}, {'connected_gene': 'HIST1H2APS4', 'score': 10.69}, {'connected_gene': 'HIST1H3G', 'score': 10.69}, {'connected_gene': 'HIST1H4H', 'score': 10.62}, {'connected_gene': 'HIST1H4G', 'score': 10.58}, {'connected_gene': 'BTN3A3', 'score': 10.55}, {'connected_gene': 'HIST1H1D', 'score': 10.08}, {'connected_gene': 'HIST1H4C', 'score': 9.29}, {'connected_gene': 'ENSG00000272462', 'score': 5.72}, {'connected_gene': 'LOC102724851', 'score': 4.64}, {'connected_gene': 'GC06P027076', 'score': 0.77}, {'connected_gene': 'GC06M026651', 'score': 0.77}, {'connected_gene': 'PIR32312', 'score': 0.77}, {'connected_gene': 'PIR55512', 'score': 0.77}, {'connected_gene': 'GC06P027068', 'score': 0.77}, {'connected_gene': 'PIR46593', 'score': 0.77}, {'connected_gene': 'PIR40222', 'score': 0.77}, {'connected_gene': 'GC06P027077', 'score': 0.44}, {'connected_gene': 'HIST1H1PS1', 'score': 0.44}]
chr6 GH06I026214 26214313 26220778 2.5 [{'connected_gene': 'HIST1H2AE', 'score': 563.06}, {'connected_gene': 'PIR48825', 'score': 550.77}, {'connected_gene': 'GC06M026654', 'score': 550.77}, {'connected_gene': 'HIST1H2BG', 'score': 550.77}, {'connected_gene': 'ENSG00000277720', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 79.43}, {'connected_gene': 'HMGN4', 'score': 60.25}, {'connected_gene': 'BTN2A1', 'score': 52.44}, {'connected_gene': 'BTN2A3P', 'score': 52.08}, {'connected_gene': 'BTN2A2', 'score': 39.74}, {'connected_gene': 'HIST1H3E', 'score': 14.74}, {'connected_gene': 'BTN3A1', 'score': 10.87}, {'connected_gene': 'BTN3A3', 'score': 10.55}, {'connected_gene': 'HIST1H1D', 'score': 10.15}, {'connected_gene': 'LOC102724851', 'score': 5.53}]
chr6 GH06I026232 26232311 26236391 2.2 [{'connected_gene': 'HIST1H1D', 'score': 550.77}, {'connected_gene': 'PIR47167', 'score': 550.77}, {'connected_gene': 'HIST1H2APS3', 'score': 550.77}, {'connected_gene': 'PIR40027', 'score': 550.77}, {'connected_gene': 'PIR33202', 'score': 550.77}, {'connected_gene': 'PIR49597', 'score': 550.77}, {'connected_gene': 'GC06M026659', 'score': 550.77}, {'connected_gene': 'PIR44693', 'score': 550.77}, {'connected_gene': 'PIR62527', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 35.12}, {'connected_gene': 'BTN2A2', 'score': 20.23}, {'connected_gene': 'HMGN4', 'score': 19.43}, {'connected_gene': 'BTN2A3P', 'score': 18.6}, {'connected_gene': 'BTN2A1', 'score': 18.38}, {'connected_gene': 'HIST1H3E', 'score': 14.47}, {'connected_gene': 'HIST1H2AE', 'score': 12.53}, {'connected_gene': 'HIST1H2APS4', 'score': 10.58}, {'connected_gene': 'HIST1H3G', 'score': 10.58}, {'connected_gene': 'ENSG00000272462', 'score': 4.72}]
chr6 GH06I026248 26248916 26261823 2.45 [{'connected_gene': 'LOC105374986', 'score': 550.77}, {'connected_gene': 'HIST1H2BH', 'score': 550.77}, {'connected_gene': 'HIST1H3F', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 44.2}, {'connected_gene': 'HMGN4', 'score': 25.87}, {'connected_gene': 'BTN2A1', 'score': 25.81}, {'connected_gene': 'BTN2A3P', 'score': 20.72}, {'connected_gene': 'HIST1H3E', 'score': 20.63}, {'connected_gene': 'BTN2A2', 'score': 19.1}, {'connected_gene': 'ZNF322', 'score': 12.5}, {'connected_gene': 'GUSBP2', 'score': 12.05}, {'connected_gene': 'HIST1H2APS3', 'score': 11.76}, {'connected_gene': 'HIST1H4H', 'score': 11.2}, {'connected_gene': 'HIST1H2BE', 'score': 11.13}, {'connected_gene': 'LARP1P1', 'score': 11.11}, {'connected_gene': 'HIST1H4C', 'score': 9.73}, {'connected_gene': 'HIST1H2AE', 'score': 7.98}, {'connected_gene': 'ENSG00000272462', 'score': 6.19}, {'connected_gene': 'HIST1H2BD', 'score': 5.5}, {'connected_gene': 'BTN3A1', 'score': 5.05}, {'connected_gene': 'GC06M026655', 'score': 0.77}]
chr6 GH06I026186 26186489 26190760 2.32 [{'connected_gene': 'GC06M026662', 'score': 550.77}, {'connected_gene': 'HIST1H4D', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 58.1}, {'connected_gene': 'BTN2A2', 'score': 31.29}, {'connected_gene': 'HMGN4', 'score': 29.97}, {'connected_gene': 'BTN2A3P', 'score': 29.91}, {'connected_gene': 'BTN2A1', 'score': 28.96}, {'connected_gene': 'BTN3A2', 'score': 26.92}, {'connected_gene': 'HIST1H3E', 'score': 13.76}, {'connected_gene': 'HIST1H2AE', 'score': 11.13}, {'connected_gene': 'BTN3A1', 'score': 10.86}, {'connected_gene': 'BTN3A3', 'score': 10.55}, {'connected_gene': 'LOC102724851', 'score': 4.04}, {'connected_gene': 'GC06P027058', 'score': 0.77}]
chr6 GH06I026268 26268653 26275201 2.16 [{'connected_gene': 'GC06P027080', 'score': 550.77}, {'connected_gene': 'HIST1H2BI', 'score': 550.77}, {'connected_gene': 'HIST1H2APS4', 'score': 550.77}, {'connected_gene': 'HIST1H3G', 'score': 550.77}, {'connected_gene': 'GC06M026656', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 30.17}, {'connected_gene': 'BTN2A3P', 'score': 14.51}, {'connected_gene': 'BTN2A1', 'score': 14.37}, {'connected_gene': 'HMGN4', 'score': 14.08}, {'connected_gene': 'GUSBP2', 'score': 12.06}, {'connected_gene': 'BTN2A2', 'score': 10.34}, {'connected_gene': 'ZNF322', 'score': 9.95}, {'connected_gene': 'HIST1H3E', 'score': 7.04}, {'connected_gene': 'ENSG00000272462', 'score': 6.07}, {'connected_gene': 'HIST1H4H', 'score': 5.89}, {'connected_gene': 'HIST1H2AE', 'score': 5.69}, {'connected_gene': 'BTN3A2', 'score': 4.67}]
chr6 GH06I026182 26182364 26186048 1.72 [{'connected_gene': 'GC06P027058', 'score': 550.77}, {'connected_gene': 'HIST1H2BE', 'score': 550.39}, {'connected_gene': 'HIST1H3E', 'score': 11.03}, {'connected_gene': 'HIST1H2AE', 'score': 11.02}, {'connected_gene': 'ENSG00000272462', 'score': 5.7}, {'connected_gene': 'BTN2A1', 'score': 4.36}, {'connected_gene': 'LOC102724851', 'score': 3.77}, {'connected_gene': 'GC06M026662', 'score': 0.77}]
chr6 GH06I026170 26169332 26174630 1.74 [{'connected_gene': 'ENSG00000283064', 'score': 550.77}, {'connected_gene': 'HIST1H2BE', 'score': 550.77}, {'connected_gene': 'BTN3A2', 'score': 11.79}, {'connected_gene': 'TRIM38', 'score': 11.14}, {'connected_gene': 'HIST1H2BD', 'score': 9.6}, {'connected_gene': 'ENSG00000272462', 'score': 9.28}, {'connected_gene': 'HIST1H2AE', 'score': 5.46}, {'connected_gene': 'HIST1H3E', 'score': 4.95}, {'connected_gene': 'LOC102724851', 'score': 4.16}, {'connected_gene': 'GC06P027078', 'score': 0.44}]