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
ENST00000369158 [[149811109, 149812765]] [[149812318, 149812729]]
NM_021059 [[149812258, 149812765]] [[149812318, 149812729]]
Promoter
Chrom Start End Description
chr1 149824160 149824183 CAGE_peak_1_at_HIST2H3A_5end,CAGE_peak_1_at_HIST2H3C_5end,CAGE_peak_1_at_HIST2H3D_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I149835 149835201 149835800 0.4 [{'connected_gene': 'HIST2H4A', 'score': 0.77}, {'connected_gene': 'HIST2H3C', 'score': 0.44}]
chr1 GH01I150061 150061386 150062280 0.79 [{'connected_gene': 'HIST2H2AC', 'score': 14.66}, {'connected_gene': 'OTUD7B', 'score': 11.24}, {'connected_gene': 'MTMR11', 'score': 11.2}, {'connected_gene': 'PLEKHO1', 'score': 11.04}, {'connected_gene': 'HIST2H2AA3', 'score': 10.32}, {'connected_gene': 'HIST2H2BD', 'score': 10.32}, {'connected_gene': 'SF3B4', 'score': 10.32}, {'connected_gene': 'HIST2H3C', 'score': 10.32}, {'connected_gene': 'HIST2H2BE', 'score': 10.05}, {'connected_gene': 'BOLA1', 'score': 10.05}, {'connected_gene': 'LOC105371427', 'score': 0.44}, {'connected_gene': 'LOC441907', 'score': 0.44}, {'connected_gene': 'GC01M150063', 'score': 0.44}]
chr1 GH01I149840 149840200 149846393 2 [{'connected_gene': 'HIST2H2AA3', 'score': 555.39}, {'connected_gene': 'HIST2H3C', 'score': 550.77}, {'connected_gene': 'GC01P149843', 'score': 550.77}, {'connected_gene': 'HIST2H2BD', 'score': 550.77}, {'connected_gene': 'SV2A', 'score': 20.53}, {'connected_gene': 'HIST2H2AC', 'score': 12.95}, {'connected_gene': 'HIST2H2BE', 'score': 12.95}, {'connected_gene': 'BOLA1', 'score': 12.95}, {'connected_gene': 'MTMR11', 'score': 9.57}, {'connected_gene': 'ENSG00000261716', 'score': 5.25}, {'connected_gene': 'ENSG00000272993', 'score': 0.77}]
chr1 GH01I149831 149831200 149834201 1.2 [{'connected_gene': 'GC01M149831', 'score': 550.77}, {'connected_gene': 'HIST2H4A', 'score': 550.77}, {'connected_gene': 'HIST2H3C', 'score': 0.44}]