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
ENST00000226413 [[68605045, 68606442], [68610285, 68610505], [68619531, 68620078]] [[68606197, 68606442], [68610285, 68610505], [68619531, 68620053]]
ENST00000420975 [[68606197, 68606442], [68610285, 68610377], [68619531, 68620053]] [[68606306, 68606442], [68610285, 68610377], [68619531, 68620053]]
NM_000406 [[68603092, 68606442], [68610285, 68610505], [68619531, 68621804]] [[68606197, 68606442], [68610285, 68610505], [68619531, 68620053]]
NM_001012763 [[68603092, 68606442], [68610285, 68610377], [68619531, 68621804]] [[68606306, 68606442], [68610285, 68610377], [68619531, 68620053]]
Promoter
Chrom Start End Description
chr4 68620100 68620112 CAGE_peak_1_at_GNRHR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I067861 67861197 67862244 0.49 [{'connected_gene': 'TMPRSS11D', 'score': 11.72}, {'connected_gene': 'GNRHR', 'score': 10.46}, {'connected_gene': 'LOC102724780', 'score': 0.19}, {'connected_gene': 'UBA6-AS1', 'score': 0.1}]
chr4 GH04I067712 67712967 67715176 1.23 [{'connected_gene': 'UBA6', 'score': 26.62}, {'connected_gene': 'UBA6-AS1', 'score': 21.93}, {'connected_gene': 'GNRHR', 'score': 10.61}, {'connected_gene': 'STAP1', 'score': 10.19}, {'connected_gene': 'ST3GAL1P1', 'score': 0.77}, {'connected_gene': 'GC04M067708', 'score': 0.44}, {'connected_gene': 'GC04P067653', 'score': 0.21}]
chr4 GH04I067754 67754378 67754437 0.5 [{'connected_gene': 'GNRHR', 'score': 550.77}, {'connected_gene': 'ENSG00000202374', 'score': 0.44}, {'connected_gene': 'UBA6-AS1', 'score': 0.23}]
chr4 GH04I067713 67712203 67712232 0.43 [{'connected_gene': 'GNRHR', 'score': 10.61}, {'connected_gene': 'STAP1', 'score': 10.19}, {'connected_gene': 'GC04M067708', 'score': 0.77}, {'connected_gene': 'ST3GAL1P1', 'score': 0.44}, {'connected_gene': 'UBA6-AS1', 'score': 0.39}, {'connected_gene': 'GC04P067653', 'score': 0.22}]
chr4 GH04I067724 67724083 67724232 0.38 [{'connected_gene': 'LOC100419862', 'score': 550.77}, {'connected_gene': 'UBA6-AS1', 'score': 18.8}, {'connected_gene': 'GNRHR', 'score': 11.15}, {'connected_gene': 'PIR51733', 'score': 0.77}, {'connected_gene': 'GC04P067653', 'score': 0.19}]
chr4 GH04I067725 67724367 67728734 1.17 [{'connected_gene': 'LOC100419046', 'score': 550.77}, {'connected_gene': 'UBA6', 'score': 26.86}, {'connected_gene': 'GNRHR', 'score': 11.73}, {'connected_gene': 'TMPRSS11D', 'score': 9.78}, {'connected_gene': 'GC04P067742', 'score': 0.37}, {'connected_gene': 'UBA6-AS1', 'score': 0.31}, {'connected_gene': 'GC04P067653', 'score': 0.19}]
chr4 GH04I067720 67720410 67722857 1.39 [{'connected_gene': 'PIR51733', 'score': 550.77}, {'connected_gene': 'PIR61967', 'score': 550.77}, {'connected_gene': 'UBA6', 'score': 33.34}, {'connected_gene': 'UBA6-AS1', 'score': 21.88}, {'connected_gene': 'CENPC', 'score': 19.77}, {'connected_gene': 'YTHDC1', 'score': 13.23}, {'connected_gene': 'ENSG00000270257', 'score': 11.94}, {'connected_gene': 'GNRHR', 'score': 11.15}, {'connected_gene': 'LOC100419862', 'score': 0.77}, {'connected_gene': 'GC04P067653', 'score': 0.2}]