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
ENST00000480740 [[150320661, 150320791], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150345618]] [[150340208, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344921]]
ENST00000471696 [[150321074, 150321286], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150348222]] [[150321149, 150321286], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344921]]
ENST00000477889 [[150321077, 150321286], [150336495, 150336715], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150345480]] [[150340208, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344921]]
ENST00000492132 [[150321114, 150321286], [150336495, 150336590], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150345517]] [[150321149, 150321286], [150336495, 150336496]]
ENST00000485923 [[150321122, 150321473], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150345692]] [[150340208, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344921]]
ENST00000466234 [[150344697, 150344950], [150345445, 150345777]] None
NM_016275 [[150321065, 150321286], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344950], [150345445, 150348234]] [[150321149, 150321286], [150340171, 150340282], [150340829, 150340956], [150342598, 150342686], [150344796, 150344921]]
Promoter
Chrom Start End Description
chr3 150340187 150340227 CAGE_peak_1_at_SELT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I150582 150582264 150584661 0.57 [{'connected_gene': 'EIF2A', 'score': 52.0}, {'connected_gene': 'SELENOT', 'score': 4.53}, {'connected_gene': 'SERP1', 'score': 0.37}]
chr3 GH03I150538 150538375 150539693 0.54 [{'connected_gene': 'EIF2A', 'score': 6.14}, {'connected_gene': 'SELENOT', 'score': 5.07}, {'connected_gene': 'GC03M150475', 'score': 0.21}]
chr3 GH03I150543 150543913 150548628 2.28 [{'connected_gene': 'EIF2A', 'score': 596.96}, {'connected_gene': 'SERP1', 'score': 557.42}, {'connected_gene': 'COMMD2', 'score': 9.68}, {'connected_gene': 'SELENOT', 'score': 5.09}, {'connected_gene': 'GC03M150475', 'score': 0.19}]
chr3 GH03I150607 150607388 150608135 0.67 [{'connected_gene': 'EIF2A', 'score': 28.47}, {'connected_gene': 'ERICH6', 'score': 10.69}, {'connected_gene': 'ERICH6-AS1', 'score': 10.69}, {'connected_gene': 'SELENOT', 'score': 6.02}, {'connected_gene': 'SERP1', 'score': 0.77}, {'connected_gene': 'GC03M150612', 'score': 0.77}]
chr3 GH03I150759 150759014 150766484 2.55 [{'connected_gene': 'SIAH2', 'score': 559.15}, {'connected_gene': 'SIAH2-AS1', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 4.3}, {'connected_gene': 'SERP1', 'score': 1.86}, {'connected_gene': 'GPR171', 'score': 1.54}, {'connected_gene': 'SELENOT', 'score': 1.2}, {'connected_gene': 'LOC105374155', 'score': 0.77}]
chr3 GH03I150541 150541000 150541600 0.2 [{'connected_gene': 'SELENOT', 'score': 5.08}, {'connected_gene': 'EIF2A', 'score': 0.44}, {'connected_gene': 'GC03M150475', 'score': 0.2}]
chr3 GH03I150598 150598167 150607003 2.51 [{'connected_gene': 'SELENOT', 'score': 556.03}, {'connected_gene': 'SERP1', 'score': 550.77}, {'connected_gene': 'EIF2A', 'score': 52.33}, {'connected_gene': 'COMMD2', 'score': 11.96}, {'connected_gene': 'TSC22D2', 'score': 11.26}, {'connected_gene': 'ERICH6', 'score': 10.68}, {'connected_gene': 'ERICH6-AS1', 'score': 10.68}]
chr3 GH03I150634 150634938 150637027 0.74 [{'connected_gene': 'SERP1', 'score': 11.67}, {'connected_gene': 'SELENOT', 'score': 11.67}, {'connected_gene': 'ERICH6', 'score': 11.34}, {'connected_gene': 'ERICH6-AS1', 'score': 11.34}, {'connected_gene': 'EIF2A', 'score': 10.77}, {'connected_gene': 'GC03P150627', 'score': 0.44}]
chr3 GH03I150631 150631199 150631219 0.23 [{'connected_gene': 'SERP1', 'score': 12.01}, {'connected_gene': 'SELENOT', 'score': 12.01}, {'connected_gene': 'ERICH6', 'score': 11.4}, {'connected_gene': 'ERICH6-AS1', 'score': 11.4}, {'connected_gene': 'CLRN1', 'score': 4.36}, {'connected_gene': 'GC03P150627', 'score': 0.77}]
chr3 GH03I150662 150662601 150662800 0.52 [{'connected_gene': 'ERICH6', 'score': 11.97}, {'connected_gene': 'ERICH6-AS1', 'score': 11.97}, {'connected_gene': 'SERP1', 'score': 11.33}, {'connected_gene': 'SELENOT', 'score': 11.33}, {'connected_gene': 'ENSG00000243273', 'score': 10.12}, {'connected_gene': 'MINDY4B', 'score': 10.12}, {'connected_gene': 'GC03P150627', 'score': 0.28}]
chr3 GH03I150723 150723349 150724607 0.52 [{'connected_gene': 'ERICH6-AS1', 'score': 21.72}, {'connected_gene': 'SIAH2', 'score': 11.9}, {'connected_gene': 'SIAH2-AS1', 'score': 11.9}, {'connected_gene': 'ENSG00000243273', 'score': 10.82}, {'connected_gene': 'MINDY4B', 'score': 10.8}, {'connected_gene': 'SELENOT', 'score': 10.72}, {'connected_gene': 'SERP1', 'score': 10.72}, {'connected_gene': 'SNRPCP3', 'score': 0.77}, {'connected_gene': 'LOC101928105', 'score': 0.37}]