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
ENST00000495223 [[139654085, 139654166], [139658195, 139658235], [139658321, 139658417], [139658844, 139658916]] None
ENST00000316144 [[139654085, 139654235], [139656238, 139656305], [139656639, 139656741], [139657808, 139657919], [139658164, 139658235], [139658321, 139658461], [139658844, 139658965]] [[139656270, 139656305], [139656639, 139656741], [139657808, 139657919], [139658164, 139658235], [139658321, 139658461], [139658844, 139658940]]
ENST00000482511 [[139654087, 139654235], [139656238, 139656305], [139656639, 139656741], [139657808, 139657919], [139658164, 139658235], [139658321, 139660707]] None
NM_203347 [[139654085, 139654235], [139656238, 139656305], [139656639, 139656741], [139657808, 139657919], [139658164, 139658235], [139658321, 139658461], [139658844, 139658965]] [[139656270, 139656305], [139656639, 139656741], [139657808, 139657919], [139658164, 139658235], [139658321, 139658461], [139658844, 139658940]]
Promoter
Chrom Start End Description
chr9 139658908 139658936 CAGE_peak_2_at_LCN15_5end
chr9 139658967 139658975 CAGE_peak_1_at_LCN15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I136760 136760949 136761201 1.02 [{'connected_gene': 'EHMT1', 'score': 15.64}, {'connected_gene': 'LCN15', 'score': 14.81}, {'connected_gene': 'SDCCAG3', 'score': 13.09}, {'connected_gene': 'SNHG7', 'score': 12.96}, {'connected_gene': 'ANAPC2', 'score': 10.02}, {'connected_gene': 'LCN8', 'score': 0.77}]
chr9 GH09I136769 136769088 136770726 0.9 [{'connected_gene': 'LCN15', 'score': 550.77}, {'connected_gene': 'LCN8', 'score': 19.29}, {'connected_gene': 'TMEM141', 'score': 5.88}]
chr9 GH09I136764 136764508 136764567 0.92 [{'connected_gene': 'LCN15', 'score': 550.44}, {'connected_gene': 'LCN8', 'score': 0.44}]
chr9 GH09I136762 136762795 136764031 0.92 [{'connected_gene': 'LCN15', 'score': 15.28}, {'connected_gene': 'LCN8', 'score': 0.77}]
chr9 GH09I136757 136757215 136759098 1.54 [{'connected_gene': 'LCN8', 'score': 605.79}, {'connected_gene': 'EHMT1', 'score': 17.57}, {'connected_gene': 'SDCCAG3', 'score': 15.27}, {'connected_gene': 'LCN15', 'score': 12.96}, {'connected_gene': 'ANAPC2', 'score': 12.35}, {'connected_gene': 'SEC16A', 'score': 11.05}, {'connected_gene': 'SNHG7', 'score': 10.68}, {'connected_gene': 'DPH7', 'score': 10.04}, {'connected_gene': 'MAN1B1', 'score': 9.9}, {'connected_gene': 'LCN6', 'score': 0.44}]
chr9 GH09I136765 136765660 136767470 1.14 [{'connected_gene': 'LCN8', 'score': 26.51}, {'connected_gene': 'LCN15', 'score': 16.3}]
chr9 GH09I137233 137233373 137243238 2.65 [{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]
chr9 GH09I136773 136773809 136773958 0.76 [{'connected_gene': 'CCDC183-AS1', 'score': 4.86}, {'connected_gene': 'PIR54207', 'score': 0.77}, {'connected_gene': 'LCN15', 'score': 0.77}]
chr9 GH09I136748 136748460 136749639 0.7 [{'connected_gene': 'ENSG00000204003', 'score': 550.77}, {'connected_gene': 'LCN6', 'score': 550.77}, {'connected_gene': 'LCN8', 'score': 51.89}, {'connected_gene': 'LCN15', 'score': 8.64}, {'connected_gene': 'LOC100128593', 'score': 0.77}]