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
ENST00000304218 [[26156558, 26157343]] [[26156618, 26157278]]
NM_005321 [[26156558, 26157343]] [[26156618, 26157278]]
Promoter
Chrom Start End Description
chr6 26156551 26156564 CAGE_peak_1_at_HIST1H1E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I026060 26060001 26060400 0.51 [{'connected_gene': 'HIST1H4C', 'score': 12.21}, {'connected_gene': 'HFE', 'score': 11.49}, {'connected_gene': 'HIST1H1T', 'score': 11.31}, {'connected_gene': 'HIST1H2BD', 'score': 10.42}, {'connected_gene': 'HIST1H1E', 'score': 10.42}, {'connected_gene': 'ENSG00000272462', 'score': 10.26}, {'connected_gene': 'LARP1P1', 'score': 9.57}, {'connected_gene': 'HIST1H2BE', 'score': 9.55}, {'connected_gene': 'HMGN4', 'score': 5.25}, {'connected_gene': 'HIST1H1C', 'score': 0.77}, {'connected_gene': 'GC06P026086', 'score': 0.31}, {'connected_gene': 'GC06P025915', 'score': 0.11}]
chr6 GH06I026064 26064633 26064782 0.91 [{'connected_gene': 'HIST1H4C', 'score': 12.62}, {'connected_gene': 'HIST1H1E', 'score': 10.62}, {'connected_gene': 'HIST1H2BD', 'score': 10.62}, {'connected_gene': 'HIST1H1C', 'score': 0.44}, {'connected_gene': 'GC06P026086', 'score': 0.34}, {'connected_gene': 'GC06P025915', 'score': 0.11}]
chr6 GH06I026019 26019466 26035706 2.69 [{'connected_gene': 'HIST1H3A', 'score': 552.19}, {'connected_gene': 'HIST1H3B', 'score': 550.77}, {'connected_gene': 'HIST1H4B', 'score': 550.77}, {'connected_gene': 'HIST1H2AB', 'score': 550.44}, {'connected_gene': 'HIST1H4A', 'score': 550.44}, {'connected_gene': 'ABT1', 'score': 79.41}, {'connected_gene': 'HMGN4', 'score': 60.22}, {'connected_gene': 'BTN2A1', 'score': 59.84}, {'connected_gene': 'BTN2A3P', 'score': 52.04}, {'connected_gene': 'BTN2A2', 'score': 39.7}, {'connected_gene': 'ENSG00000272462', 'score': 31.49}, {'connected_gene': 'BTN3A2', 'score': 27.46}, {'connected_gene': 'NUP50P2', 'score': 22.38}, {'connected_gene': 'BTN3A1', 'score': 22.22}, {'connected_gene': 'HIST1H1C', 'score': 21.11}, {'connected_gene': 'BTN3A3', 'score': 19.26}, {'connected_gene': 'ZNF322', 'score': 12.22}, {'connected_gene': 'HIST1H2APS5', 'score': 11.61}, {'connected_gene': 'LINC00240', 'score': 10.54}, {'connected_gene': 'HIST1H1D', 'score': 10.37}, {'connected_gene': 'HIST1H4C', 'score': 10.02}, {'connected_gene': 'TRIM38', 'score': 9.12}, {'connected_gene': 'HFE', 'score': 7.17}, {'connected_gene': 'HIST1H1E', 'score': 2.13}, {'connected_gene': 'HIST1H2BD', 'score': 1.38}, {'connected_gene': 'GC06P026025', 'score': 0.44}, {'connected_gene': 'GC06P026024', 'score': 0.44}, {'connected_gene': 'GC06M026034', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.14}]
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 GH06I026154 26154989 26160742 2.33 [{'connected_gene': 'HIST1H2BD', 'score': 558.71}, {'connected_gene': 'PIR51284', 'score': 550.77}, {'connected_gene': 'HIST1H1E', 'score': 550.77}, {'connected_gene': 'PIR46250', 'score': 550.77}, {'connected_gene': 'GC06P027072', 'score': 550.77}, {'connected_gene': 'PIR52206', 'score': 550.77}, {'connected_gene': 'PIR33327', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 29.49}, {'connected_gene': 'BTN2A3P', 'score': 21.69}, {'connected_gene': 'BTN2A2', 'score': 21.68}, {'connected_gene': 'HMGN4', 'score': 21.48}, {'connected_gene': 'BTN2A1', 'score': 20.47}, {'connected_gene': 'BTN3A1', 'score': 13.99}, {'connected_gene': 'BTN3A2', 'score': 13.0}, {'connected_gene': 'BTN3A3', 'score': 10.54}, {'connected_gene': 'HIST1H3E', 'score': 10.18}, {'connected_gene': 'ENSG00000272462', 'score': 8.43}]
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 GH06I026141 26141513 26141662 0.46 [{'connected_gene': 'HIST1H1E', 'score': 0.39}, {'connected_gene': 'PIR33095', 'score': 0.37}]
chr6 GH06I026065 26065533 26066620 1.35 [{'connected_gene': 'ENSG00000272462', 'score': 27.37}, {'connected_gene': 'HIST1H4C', 'score': 12.62}, {'connected_gene': 'HIST1H1E', 'score': 10.62}, {'connected_gene': 'HIST1H2BD', 'score': 10.62}, {'connected_gene': 'HIST1H1C', 'score': 0.44}, {'connected_gene': 'GC06P026086', 'score': 0.34}, {'connected_gene': 'GC06P025915', 'score': 0.1}]
chr6 GH06I026152 26152370 26153269 0.8 [{'connected_gene': 'ENSG00000272462', 'score': 9.15}, {'connected_gene': 'HIST1H3E', 'score': 5.03}, {'connected_gene': 'HIST1H1E', 'score': 0.77}, {'connected_gene': 'PIR33095', 'score': 0.31}]
chr6 GH06I026299 26299153 26299302 0.51 [{'connected_gene': 'GC06P027061', 'score': 550.77}, {'connected_gene': 'TRR-TCG4-1', 'score': 550.77}, {'connected_gene': 'HIST1H2APS4', 'score': 11.22}, {'connected_gene': 'HIST1H3G', 'score': 11.22}, {'connected_gene': 'HIST1H2BD', 'score': 10.25}, {'connected_gene': 'HIST1H1E', 'score': 10.25}, {'connected_gene': 'HIST1H4G', 'score': 9.73}, {'connected_gene': 'HMGN4', 'score': 9.71}, {'connected_gene': 'HIST1H2BE', 'score': 9.4}, {'connected_gene': 'LARP1P1', 'score': 9.39}, {'connected_gene': 'BTN1A1', 'score': 8.85}, {'connected_gene': 'GC06P027053', 'score': 0.77}]
chr6 GH06I026128 26128000 26128827 0.57 [{'connected_gene': 'ENSG00000272462', 'score': 13.16}, {'connected_gene': 'HFE', 'score': 10.21}, {'connected_gene': 'BTN3A2', 'score': 8.17}, {'connected_gene': 'HIST1H2APS5', 'score': 6.41}, {'connected_gene': 'PIR33095', 'score': 0.77}, {'connected_gene': 'HIST1H2AC', 'score': 0.77}, {'connected_gene': 'HIST1H1E', 'score': 0.31}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
chr6 GH06I026114 26114861 26116272 0.43 [{'connected_gene': 'ENSG00000272462', 'score': 23.37}, {'connected_gene': 'HIST1H2BD', 'score': 11.52}, {'connected_gene': 'HIST1H1E', 'score': 11.52}, {'connected_gene': 'HFE', 'score': 11.15}, {'connected_gene': 'LARP1P1', 'score': 10.61}, {'connected_gene': 'HIST1H2BE', 'score': 10.58}, {'connected_gene': 'HIST1H1T', 'score': 0.44}, {'connected_gene': 'HIST1H2BC', 'score': 0.44}, {'connected_gene': 'PIR32750', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
chr6 GH06I026112 26112914 26113713 0.31 [{'connected_gene': 'ENSG00000272462', 'score': 13.03}, {'connected_gene': 'HIST1H2BD', 'score': 11.52}, {'connected_gene': 'HIST1H1E', 'score': 11.52}, {'connected_gene': 'HFE', 'score': 11.15}, {'connected_gene': 'LARP1P1', 'score': 10.59}, {'connected_gene': 'HIST1H2BE', 'score': 10.58}, {'connected_gene': 'HIST1H1T', 'score': 0.44}, {'connected_gene': 'PIR32750', 'score': 0.39}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
chr6 GH06I026294 26294831 26298018 1.46 [{'connected_gene': 'GC06P027053', 'score': 550.77}, {'connected_gene': 'HMGN4', 'score': 29.88}, {'connected_gene': 'HIST1H3E', 'score': 16.26}, {'connected_gene': 'ABT1', 'score': 15.4}, {'connected_gene': 'BTN2A3P', 'score': 13.87}, {'connected_gene': 'BTN2A1', 'score': 13.01}, {'connected_gene': 'HIST1H2APS4', 'score': 11.25}, {'connected_gene': 'HIST1H3G', 'score': 11.25}, {'connected_gene': 'HIST1H2BH', 'score': 11.13}, {'connected_gene': 'HIST1H2BD', 'score': 10.26}, {'connected_gene': 'HIST1H1E', 'score': 10.25}, {'connected_gene': 'HIST1H2BE', 'score': 10.01}, {'connected_gene': 'HIST1H4G', 'score': 10.01}, {'connected_gene': 'LARP1P1', 'score': 10.0}, {'connected_gene': 'HIST1H1D', 'score': 10.0}, {'connected_gene': 'HIST1H2APS3', 'score': 9.95}, {'connected_gene': 'BTN1A1', 'score': 8.85}, {'connected_gene': 'HIST1H4H', 'score': 8.29}, {'connected_gene': 'BTN3A2', 'score': 4.89}, {'connected_gene': 'GC06P027061', 'score': 0.77}]
chr6 GH06I026520 26520065 26523456 1.93 [{'connected_gene': 'GC06P027056', 'score': 550.77}, {'connected_gene': 'TRL-CAG1-7', 'score': 550.77}, {'connected_gene': 'GC06P027047', 'score': 550.77}, {'connected_gene': 'PIR62171', 'score': 550.77}, {'connected_gene': 'HCG11', 'score': 550.77}, {'connected_gene': 'ZNF322', 'score': 26.93}, {'connected_gene': 'LOC102724851', 'score': 25.53}, {'connected_gene': 'HMGN4', 'score': 18.1}, {'connected_gene': 'BTN1A1', 'score': 11.23}, {'connected_gene': 'GUSBP2', 'score': 11.05}, {'connected_gene': 'BTN2A3P', 'score': 9.95}, {'connected_gene': 'HIST1H2APS4', 'score': 9.89}, {'connected_gene': 'HIST1H3G', 'score': 9.89}, {'connected_gene': 'BTN3A3', 'score': 5.58}, {'connected_gene': 'BTN2A1', 'score': 4.08}, {'connected_gene': 'BTN3A2', 'score': 3.72}, {'connected_gene': 'BTN3A1', 'score': 3.59}, {'connected_gene': 'ABT1', 'score': 2.92}, {'connected_gene': 'HIST1H2BC', 'score': 1.39}, {'connected_gene': 'BTN2A2', 'score': 1.36}, {'connected_gene': 'HIST1H2BD', 'score': 1.36}, {'connected_gene': 'HIST1H1E', 'score': 1.32}, {'connected_gene': 'HIST1H1D', 'score': 1.28}, {'connected_gene': 'HIST1H2AC', 'score': 1.26}]