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
ENST00000314332 [[26115100, 26115363], [26123742, 26124138]] [[26123751, 26124132]]
ENST00000396984 [[26123583, 26124154]] [[26123751, 26124132]]
NM_003526 [[26123694, 26124132]] [[26123751, 26124132]]
Promoter
Chrom Start End Description
chr6 26124147 26124168 CAGE_peak_1_at_HIST1H2BC_5end,CAGE_peak_1_at_HIST1H2BE_5end,CAGE_peak_1_at_HIST1H2BF_5end,CAGE_peak_1_at_HIST1H2BG_5end,CAGE_peak_1_at_HIST1H2BI_5end
chr6 26199709 26199720 CAGE_peak_5_at_HIST1H2BC_5end,CAGE_peak_5_at_HIST1H2BF_5end,CAGE_peak_5_at_HIST1H2BG_5end,CAGE_peak_5_at_HIST1H2BI_5end,CAGE_peak_6_at_HIST1H2BE_5end
chr6 26199737 26199754 CAGE_peak_2_at_HIST1H2BC_5end,CAGE_peak_2_at_HIST1H2BE_5end,CAGE_peak_2_at_HIST1H2BF_5end,CAGE_peak_2_at_HIST1H2BG_5end,CAGE_peak_2_at_HIST1H2BI_5end
chr6 26216881 26216895 CAGE_peak_6_at_HIST1H2BC_5end,CAGE_peak_6_at_HIST1H2BF_5end,CAGE_peak_6_at_HIST1H2BG_5end,CAGE_peak_6_at_HIST1H2BI_5end,CAGE_peak_7_at_HIST1H2BE_5end
chr6 26216901 26216926 CAGE_peak_4_at_HIST1H2BC_5end,CAGE_peak_4_at_HIST1H2BE_5end,CAGE_peak_4_at_HIST1H2BF_5end,CAGE_peak_4_at_HIST1H2BG_5end,CAGE_peak_4_at_HIST1H2BI_5end
chr6 26273152 26273175 CAGE_peak_3_at_HIST1H2BC_5end,CAGE_peak_3_at_HIST1H2BE_5end,CAGE_peak_3_at_HIST1H2BF_5end,CAGE_peak_3_at_HIST1H2BG_5end,CAGE_peak_3_at_HIST1H2BI_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH06I026118 26118590 26119383 0.93 [{'connected_gene': 'ENSG00000272462', 'score': 13.31}, {'connected_gene': 'BTN3A2', 'score': 8.57}, {'connected_gene': 'PIR32750', 'score': 0.77}, {'connected_gene': 'HIST1H2BC', 'score': 0.77}, {'connected_gene': 'HIST1H1T', 'score': 0.39}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
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}]