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_003513 [[26033319, 26033796]] [[26033403, 26033796]]
Promoter
Chrom Start End Description
chr6 26033837 26033852 CAGE_peak_1_at_HIST1H2AB_5end,CAGE_peak_2_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 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 GH06I025535 25535530 25535570 0.95 [{'connected_gene': 'LOC101928663', 'score': 11.28}, {'connected_gene': 'RPL21P68', 'score': 11.28}, {'connected_gene': 'CARMIL1', 'score': 10.5}, {'connected_gene': 'LOC100533655', 'score': 10.05}, {'connected_gene': 'CMAHP', 'score': 10.04}, {'connected_gene': 'HIST1H4A', 'score': 4.62}, {'connected_gene': 'HIST1H3B', 'score': 3.54}, {'connected_gene': 'HIST1H4B', 'score': 3.3}, {'connected_gene': 'HIST1H2AB', 'score': 2.88}, {'connected_gene': 'HIST1H3A', 'score': 1.89}, {'connected_gene': 'GC06M025494', 'score': 0.28}, {'connected_gene': 'GC06M025592', 'score': 0.22}]