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_003524 [[26251878, 26252303]] [[26251878, 26252259]]
Promoter
Chrom Start End Description
chr6 26251822 26251833 CAGE_peak_2_at_HIST1H2BH_5end
chr6 26251835 26251848 CAGE_peak_1_at_HIST1H2BH_5end
chr6 26251938 26251963 CAGE_peak_4_at_HIST1H2BH_5end
chr6 26251989 26252003 CAGE_peak_3_at_HIST1H2BH_5end
chr6 26252009 26252025 CAGE_peak_5_at_HIST1H2BH_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 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 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}]