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
ENST00000287490 [[31439051, 31439178], [31439335, 31439472], [31439573, 31439749]] [[31439094, 31439178], [31439335, 31439472], [31439573, 31439646]]
ENST00000565462 [[31439096, 31439178], [31439335, 31439967]] None
NM_005205 [[31439051, 31439178], [31439335, 31439472], [31439573, 31439749]] [[31439094, 31439178], [31439335, 31439472], [31439573, 31439646]]
Promoter
Chrom Start End Description
chr16 31439646 31439688 CAGE_peak_1_at_COX6A2_5end
chr16 31439694 31439715 CAGE_peak_2_at_COX6A2_5end
chr16 31439735 31439754 CAGE_peak_3_at_COX6A2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031376 31376800 31376909 0.2 [{'connected_gene': 'ITGAX', 'score': 12.23}, {'connected_gene': 'COX6A2', 'score': 11.62}, {'connected_gene': 'PYCARD', 'score': 11.23}, {'connected_gene': 'ARMC5', 'score': 10.42}, {'connected_gene': 'GC16M031365', 'score': 0.77}, {'connected_gene': 'GC16M031380', 'score': 0.44}]
chr16 GH16I031441 31441895 31443729 2.23 [{'connected_gene': 'ZNF843', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 21.08}, {'connected_gene': 'COX6A2', 'score': 0.39}]
chr16 GH16I031404 31404146 31405309 1.06 [{'connected_gene': 'COX6A2', 'score': 12.93}, {'connected_gene': 'ARMC5', 'score': 11.09}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 9.61}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.39}, {'connected_gene': 'ENSG00000277543', 'score': 0.34}]
chr16 GH16I031427 31427150 31431668 1.88 [{'connected_gene': 'COX6A2', 'score': 550.77}, {'connected_gene': 'ENSG00000277543', 'score': 550.77}, {'connected_gene': 'ARMC5', 'score': 24.01}, {'connected_gene': 'FUS', 'score': 23.87}, {'connected_gene': 'ENSG00000260740', 'score': 17.95}, {'connected_gene': 'ZNF785', 'score': 17.32}, {'connected_gene': 'C16orf58', 'score': 15.82}, {'connected_gene': 'MIR762HG', 'score': 12.99}, {'connected_gene': 'ZNF720', 'score': 12.17}, {'connected_gene': 'SETD1A', 'score': 11.29}, {'connected_gene': 'PYDC1', 'score': 11.19}, {'connected_gene': 'PRSS8', 'score': 10.86}, {'connected_gene': 'ZNF747', 'score': 10.69}, {'connected_gene': 'PYCARD', 'score': 10.6}, {'connected_gene': 'PRSS36', 'score': 10.52}, {'connected_gene': 'LOC730183', 'score': 10.48}, {'connected_gene': 'ENSG00000261474', 'score': 10.36}, {'connected_gene': 'ZNF646', 'score': 9.99}, {'connected_gene': 'ZNF668', 'score': 9.99}, {'connected_gene': 'ZNF843', 'score': 6.93}, {'connected_gene': 'CLUHP3', 'score': 3.95}]
chr16 GH16I031399 31399801 31400600 0.46 [{'connected_gene': 'COX6A2', 'score': 12.9}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'ARMC5', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 7.39}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.44}, {'connected_gene': 'GC16P031393', 'score': 0.44}]
chr16 GH16I031385 31385840 31385989 0.43 [{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16 GH16I031386 31386167 31387101 0.93 [{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ENSG00000260740', 'score': 10.18}, {'connected_gene': 'CLUHP3', 'score': 3.94}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16 GH16I031382 31382680 31382810 0.75 [{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 12.21}, {'connected_gene': 'COX6A2', 'score': 11.64}, {'connected_gene': 'PYCARD', 'score': 11.23}, {'connected_gene': 'ARMC5', 'score': 10.43}, {'connected_gene': 'GC16M031365', 'score': 0.39}]