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
ENST00000338379 [[26107639, 26108364]] [[26107697, 26108321]]
NM_005323 [[26107639, 26108364]] [[26107697, 26108321]]
Promoter
Chrom Start End Description
chr6 26108355 26108371 CAGE_peak_1_at_HIST1H1T_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 GH06I026005 26005783 26005818 0.22 [{'connected_gene': 'HIST1H1T', 'score': 4.43}, {'connected_gene': 'HIST1H2AA', 'score': 4.41}, {'connected_gene': 'HIST1H2BA', 'score': 4.37}, {'connected_gene': 'HIST1H4G', 'score': 1.77}, {'connected_gene': 'ENSG00000272810', 'score': 0.44}, {'connected_gene': 'ENSG00000272558', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.16}]
chr6 GH06I026108 26108125 26108184 0.5 [{'connected_gene': 'HIST1H1T', 'score': 550.77}, {'connected_gene': 'PIR59416', 'score': 550.77}, {'connected_gene': 'PIR52376', 'score': 550.77}, {'connected_gene': 'PIR59509', 'score': 550.77}, {'connected_gene': 'PIR44386', 'score': 550.77}, {'connected_gene': 'GC06M026664', 'score': 550.77}, {'connected_gene': 'GC06M026665', 'score': 550.77}, {'connected_gene': 'PIR39675', 'score': 550.77}, {'connected_gene': 'PIR45260', 'score': 550.77}, {'connected_gene': 'PIR58072', 'score': 550.77}, {'connected_gene': 'ENSG00000272462', 'score': 5.92}, {'connected_gene': 'PIR32750', 'score': 0.37}, {'connected_gene': 'GC06P025915', 'score': 0.08}]
chr6 GH06I026086 26086701 26089450 1.97 [{'connected_gene': 'GC06P026086', 'score': 550.77}, {'connected_gene': 'HFE', 'score': 550.77}, {'connected_gene': 'ENSG00000272462', 'score': 28.76}, {'connected_gene': 'HIST1H1C', 'score': 11.86}, {'connected_gene': 'HIST1H1T', 'score': 11.81}, {'connected_gene': 'LARP1P1', 'score': 10.05}, {'connected_gene': 'HIST1H2BE', 'score': 10.04}, {'connected_gene': 'BTN3A2', 'score': 7.0}, {'connected_gene': 'GC06P026096', 'score': 0.44}, {'connected_gene': 'GC06P025915', 'score': 0.09}]
chr6 GH06I026087 26086353 26086502 0.31 [{'connected_gene': 'GC06P026086', 'score': 550.77}, {'connected_gene': 'HFE', 'score': 550.77}, {'connected_gene': 'ENSG00000272462', 'score': 27.95}, {'connected_gene': 'HIST1H1C', 'score': 11.87}, {'connected_gene': 'HIST1H1T', 'score': 11.81}, {'connected_gene': 'LARP1P1', 'score': 10.05}, {'connected_gene': 'HIST1H2BE', 'score': 10.03}, {'connected_gene': 'GC06P025915', 'score': 0.09}]
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 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}]