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
ENST00000465342 [[128426534, 128427267], [128427687, 128432311]] [[128428111, 128429191]]
ENST00000391675 [[128427856, 128429439]] [[128428111, 128429191]]
NM_001159542 [[128427856, 128429455]] [[128428111, 128429191]]
Promoter
Chrom Start End Description
chr8 128428066 128428078 CAGE_peak_1_at_POU5F1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I127471 127471931 127473474 0.46 [{'connected_gene': 'CASC8', 'score': 0.44}, {'connected_gene': 'POU5F1B', 'score': 0.22}]
chr8 GH08I127480 127480512 127481775 0.4 [{'connected_gene': 'CASC8', 'score': 550.77}, {'connected_gene': 'POU5F1B', 'score': 0.2}]
chr8 GH08I127426 127426219 127428056 0.58 [{'connected_gene': 'CASC8', 'score': 19.84}, {'connected_gene': 'POU5F1B', 'score': 0.39}]
chr8 GH08I127451 127451948 127452018 0.22 [{'connected_gene': 'CASC8', 'score': 0.29}, {'connected_gene': 'POU5F1B', 'score': 0.28}]
chr8 GH08I127457 127457928 127458800 0.4 [{'connected_gene': 'CASC8', 'score': 0.34}, {'connected_gene': 'POU5F1B', 'score': 0.26}]
chr8 GH08I127477 127477629 127480180 0.74 [{'connected_gene': 'CASC8', 'score': 0.77}, {'connected_gene': 'POU5F1B', 'score': 0.21}]
chr8 GH08I127415 127415776 127415835 0.5 [{'connected_gene': 'POU5F1B', 'score': 550.77}, {'connected_gene': 'CASC8', 'score': 0.2}]