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
ENST00000536514 [[166808680, 166808841], [166810191, 166810325], [166816730, 166816829], [166818174, 166819948]] [[166810321, 166810325], [166816730, 166816829], [166818174, 166819646]]
ENST00000537173 [[166808680, 166808841], [166810191, 166810325], [166818174, 166819660], [166821821, 166822397]] [[166810321, 166810325], [166818174, 166819646]]
ENST00000449930 [[166808683, 166809006], [166810191, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166818445]] [[166810193, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166818445]]
ENST00000367876 [[166808693, 166808841], [166810191, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166819660], [166821821, 166825581]] [[166810193, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166819646]]
ENST00000367875 [[166809325, 166809683], [166810191, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166823710]] [[166810193, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166819646]]
NM_001314014 [[166808640, 166808841], [166810191, 166810325], [166818174, 166819660], [166821821, 166825581]] [[166810321, 166810325], [166818174, 166819646]]
NM_017542 [[166808640, 166808841], [166810191, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166819660], [166821821, 166825581]] [[166810193, 166810325], [166815848, 166815975], [166816730, 166816829], [166818174, 166819646]]
Promoter
Chrom Start End Description
chr1 166808667 166808690 CAGE_peak_2_at_POGK_5end
chr1 166808692 166808774 CAGE_peak_1_at_POGK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I166838 166838266 166841586 2.06 [{'connected_gene': 'POGK', 'score': 550.77}, {'connected_gene': 'DUTP6', 'score': 32.16}, {'connected_gene': 'LOC284685', 'score': 27.79}, {'connected_gene': 'POU2F1', 'score': 20.04}, {'connected_gene': 'MPZL1', 'score': 10.22}, {'connected_gene': 'GC01P166768', 'score': 0.19}]
chr1 GH01I166858 166858852 166859226 0.5 [{'connected_gene': 'DUTP6', 'score': 29.04}, {'connected_gene': 'POU2F1', 'score': 2.23}, {'connected_gene': 'POGK', 'score': 1.61}, {'connected_gene': 'TADA1', 'score': 0.37}, {'connected_gene': 'GC01P166768', 'score': 0.16}]