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
ENST00000332715 [[28551850, 28552589], [28562599, 28562791]] [[28552242, 28552589], [28562599, 28562774]]
NM_001105577 [[28552242, 28552589], [28562599, 28562774]] [[28552242, 28552589], [28562599, 28562774]]
Promoter
Chrom Start End Description
chr13 28562829 28562830 CAGE_peak_1_at_PRHOXNB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I027988 27988683 27988742 0.68 [{'connected_gene': 'URAD', 'score': 550.77}, {'connected_gene': 'RN7SL272P', 'score': 550.77}]
chr13 GH13I028749 28749674 28755953 1.37 [{'connected_gene': 'SLC46A3', 'score': 23.41}, {'connected_gene': 'CYP51A1P2', 'score': 12.05}, {'connected_gene': 'RNU6-53P', 'score': 10.99}, {'connected_gene': 'URAD', 'score': 5.51}, {'connected_gene': 'MTUS2', 'score': 2.13}, {'connected_gene': 'ENSG00000277227', 'score': 0.31}]
chr13 GH13I027958 27958858 27982215 2 [{'connected_gene': 'CDX2', 'score': 557.17}, {'connected_gene': 'URAD', 'score': 22.79}, {'connected_gene': 'RPL21', 'score': 12.76}, {'connected_gene': 'PLUT', 'score': 12.55}, {'connected_gene': 'PDX1', 'score': 12.54}, {'connected_gene': 'GSX1', 'score': 10.83}, {'connected_gene': 'RN7SL272P', 'score': 10.79}, {'connected_gene': 'LNX2', 'score': 1.62}, {'connected_gene': 'FLT3', 'score': 1.36}, {'connected_gene': 'GC13M027960', 'score': 0.44}, {'connected_gene': 'LOC105370132', 'score': 0.44}]
chr13 GH13I027984 27984344 27984533 0.86 [{'connected_gene': 'PLUT', 'score': 12.39}, {'connected_gene': 'PDX1', 'score': 12.39}, {'connected_gene': 'GSX1', 'score': 10.71}, {'connected_gene': 'URAD', 'score': 0.77}, {'connected_gene': 'LOC105370132', 'score': 0.77}]
chr13 GH13I027952 27952463 27958474 1.78 [{'connected_gene': 'LINC00543', 'score': 550.77}, {'connected_gene': 'CDX2', 'score': 38.07}, {'connected_gene': 'PLUT', 'score': 12.6}, {'connected_gene': 'PDX1', 'score': 12.58}, {'connected_gene': 'GSX1', 'score': 10.74}, {'connected_gene': 'URAD', 'score': 8.01}, {'connected_gene': 'GC13M027960', 'score': 0.44}]