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
ENST00000564218 [[31445568, 31446322], [31447488, 31448505], [31453956, 31454346]] [[31446122, 31446322], [31447488, 31448170]]
ENST00000315678 [[31446758, 31448505], [31453956, 31454346]] [[31447123, 31448170]]
NM_001136509 [[31446884, 31448505], [31453956, 31454348]] [[31447123, 31448170]]
Promoter
Chrom Start End Description
chr16 31454084 31454115 CAGE_peak_1_at_ZNF843_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031456 31456388 31461269 2.31 [{'connected_gene': 'ARMC5', 'score': 572.31}, {'connected_gene': 'ENSG00000260267', 'score': 561.58}, {'connected_gene': 'GC16M031458', 'score': 550.77}, {'connected_gene': 'PIR46378', 'score': 550.77}, {'connected_gene': 'GC16M031449', 'score': 550.77}, {'connected_gene': 'SETD1A', 'score': 25.13}, {'connected_gene': 'FUS', 'score': 23.35}, {'connected_gene': 'SRCAP', 'score': 23.25}, {'connected_gene': 'ZNF720', 'score': 22.47}, {'connected_gene': 'ZNF785', 'score': 20.46}, {'connected_gene': 'C16orf58', 'score': 19.93}, {'connected_gene': 'ENSG00000260740', 'score': 17.67}, {'connected_gene': 'ZNF764', 'score': 13.23}, {'connected_gene': 'ENSG00000261474', 'score': 12.24}, {'connected_gene': 'ZNF747', 'score': 11.34}, {'connected_gene': 'KAT8', 'score': 11.26}, {'connected_gene': 'MIR762HG', 'score': 10.87}, {'connected_gene': 'ZNF843', 'score': 10.81}, {'connected_gene': 'RNF40', 'score': 10.69}, {'connected_gene': 'CLUHP3', 'score': 10.12}, {'connected_gene': 'ZNF689', 'score': 9.94}]
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 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 GH16I031484 31483950 31485672 1.04 [{'connected_gene': 'ENSG00000260740', 'score': 23.35}, {'connected_gene': 'ZNF843', 'score': 6.31}, {'connected_gene': 'ITGAD', 'score': 4.21}, {'connected_gene': 'SLC5A2', 'score': 0.77}]
chr16 GH16I031451 31451520 31456204 1.45 [{'connected_gene': 'ENSG00000261474', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 17.72}, {'connected_gene': 'ZNF843', 'score': 12.94}, {'connected_gene': 'CLUHP3', 'score': 5.93}, {'connected_gene': 'HERC2P4', 'score': 4.97}, {'connected_gene': 'ZNF785', 'score': 4.1}, {'connected_gene': 'ARMC5', 'score': 0.77}, {'connected_gene': 'GC16M031449', 'score': 0.44}]