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
ENST00000293371 [[55038374, 55038540], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042277]] [[55038496, 55038540], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042087]]
ENST00000546807 [[55038413, 55038540], [55038956, 55039046], [55039389, 55039491], [55039767, 55039934], [55040904, 55040943], [55042029, 55042277]] [[55039797, 55039934], [55040904, 55040943], [55042029, 55042087]]
ENST00000456047 [[55038413, 55038540], [55038667, 55038731], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042277]] [[55038527, 55038540], [55038667, 55038731], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042087]]
NM_001300854 [[55038374, 55038540], [55038667, 55038731], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042277]] [[55038527, 55038540], [55038667, 55038731], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042087]]
NM_053283 [[55038374, 55038540], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042277]] [[55038496, 55038540], [55038956, 55039046], [55039389, 55039491], [55040904, 55040943], [55042029, 55042087]]
Promoter
Chrom Start End Description
chr12 55042140 55042153 CAGE_peak_1_at_DCD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I054976 54976654 54986541 2.04 [{'connected_gene': 'TESPA1', 'score': 583.28}, {'connected_gene': 'NEUROD4', 'score': 10.28}, {'connected_gene': 'DCD', 'score': 1.51}, {'connected_gene': 'GC12M054982', 'score': 0.37}, {'connected_gene': 'GC12P054960', 'score': 0.34}]
chr12 GH12I054634 54634885 54634944 0.5 [{'connected_gene': 'LACRT', 'score': 550.77}, {'connected_gene': 'DCD', 'score': 0.39}]