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
ENST00000595404 [[43715942, 43716627], [43762353, 43762608], [43763008, 43764898]] None
ENST00000418820 [[43715942, 43716627], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773682]] [[43716610, 43716627], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773583]]
ENST00000593948 [[43757430, 43757798], [43762353, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773680]] [[43757760, 43757798], [43762353, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773583]]
ENST00000270077 [[43757433, 43757798], [43762353, 43762608], [43763008, 43763287], [43766011, 43766290], [43771935, 43772301], [43773519, 43773680]] [[43757760, 43757798], [43762353, 43762608], [43763008, 43763287], [43766011, 43766290], [43771935, 43772301], [43773519, 43773583]]
ENST00000291752 [[43757434, 43757798], [43762353, 43762608], [43771935, 43772301], [43773519, 43773589]] [[43757760, 43757798], [43762353, 43762608], [43771935, 43772301], [43773519, 43773583]]
ENST00000443718 [[43757438, 43757798], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773680]] [[43757760, 43757798], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773583]]
ENST00000244293 [[43761311, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773650]] [[43762108, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773583]]
ENST00000596730 [[43761316, 43762608], [43771935, 43772301], [43773519, 43773673]] [[43762108, 43762608], [43771935, 43772301], [43773519, 43773583]]
NM_002784 [[43757433, 43757798], [43762353, 43762608], [43763008, 43763287], [43766011, 43766290], [43771935, 43772301], [43773519, 43773715]] [[43757760, 43757798], [43762353, 43762608], [43763008, 43763287], [43766011, 43766290], [43771935, 43772301], [43773519, 43773583]]
NM_001301708 [[43757433, 43757798], [43762353, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773715]] [[43757760, 43757798], [43762353, 43762608], [43766011, 43766290], [43771935, 43772301], [43773519, 43773583]]
NM_001301707 [[43757433, 43757798], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773715]] [[43757760, 43757798], [43762353, 43762608], [43763008, 43763287], [43771935, 43772301], [43773519, 43773583]]
NM_001301709 [[43757433, 43757798], [43762353, 43762608], [43771935, 43772301], [43773519, 43773715]] [[43757760, 43757798], [43762353, 43762608], [43771935, 43772301], [43773519, 43773583]]
Promoter
Chrom Start End Description
chr19 43772273 43772297 CAGE_peak_2_at_PSG9_5end
chr19 43773641 43773691 CAGE_peak_1_at_PSG9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I043263 43263938 43269598 1.58 [{'connected_gene': 'PSG9', 'score': 550.77}, {'connected_gene': 'PSG4', 'score': 24.06}, {'connected_gene': 'LOC100505715', 'score': 15.85}, {'connected_gene': 'ZNF428', 'score': 13.66}, {'connected_gene': 'ZNF575', 'score': 13.43}, {'connected_gene': 'LOC100379224', 'score': 12.64}, {'connected_gene': 'MEGF8', 'score': 12.24}, {'connected_gene': 'ZNF404', 'score': 11.62}, {'connected_gene': 'ZNF576', 'score': 11.3}, {'connected_gene': 'PSG5', 'score': 11.15}, {'connected_gene': 'IRGQ', 'score': 9.89}, {'connected_gene': 'ENSG00000231412', 'score': 8.21}, {'connected_gene': 'CEACAMP10', 'score': 0.37}, {'connected_gene': 'LOC284344', 'score': 0.37}]