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
ENST00000318753 [[24981587, 24982379], [24984181, 24984297], [24985788, 24985917], [24988829, 24989030]] [[24981853, 24982379], [24984181, 24984297], [24985788, 24985917], [24988829, 24989006]]
ENST00000446942 [[24981587, 24982379], [24984181, 24984297], [24984646, 24985233], [24985788, 24985917], [24988829, 24989033]] [[24985212, 24985233], [24985788, 24985917], [24988829, 24989006]]
ENST00000491910 [[24981602, 24982379], [24984181, 24985361], [24985788, 24985917], [24988183, 24989040]] None
ENST00000404045 [[24981616, 24982379], [24984181, 24984297], [24985788, 24985917], [24988183, 24988390], [24988829, 24989031]] [[24988342, 24988390], [24988829, 24989006]]
ENST00000460524 [[24981629, 24982379], [24984181, 24985361], [24985788, 24985917], [24988829, 24989046]] None
ENST00000495297 [[24984649, 24985233], [24985788, 24985917], [24988183, 24988252]] None
ENST00000465334 [[24985132, 24985917], [24988829, 24989001]] None
ENST00000464490 [[24985373, 24985581], [24985788, 24985917], [24988183, 24988390], [24989144, 24989175]] None
NM_207644 [[24981590, 24982379], [24984181, 24984297], [24985788, 24985917], [24988829, 24989035]] [[24981853, 24982379], [24984181, 24984297], [24985788, 24985917], [24988829, 24989006]]
Promoter
Chrom Start End Description
chr22 24989014 24989057 CAGE_peak_1_at_FAM211B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I025402 25402131 25407088 1.7 [{'connected_gene': 'LRP5L', 'score': 571.87}, {'connected_gene': 'LRRC75B', 'score': 6.98}, {'connected_gene': 'LOC100419673', 'score': 5.14}, {'connected_gene': 'ENSG00000272977', 'score': 5.09}, {'connected_gene': 'PIR32639', 'score': 0.29}]
chr22 GH22I023766 23766254 23769043 2.04 [{'connected_gene': 'CHCHD10', 'score': 556.12}, {'connected_gene': 'MMP11', 'score': 550.77}, {'connected_gene': 'SMARCB1', 'score': 16.94}, {'connected_gene': 'VPREB3', 'score': 15.3}, {'connected_gene': 'ENSG00000234353', 'score': 12.33}, {'connected_gene': 'POM121L9P', 'score': 12.27}, {'connected_gene': 'SNRPD3', 'score': 10.67}, {'connected_gene': 'CABIN1', 'score': 10.6}, {'connected_gene': 'MIF-AS1', 'score': 10.38}, {'connected_gene': 'ZDHHC8P1', 'score': 10.0}, {'connected_gene': 'ENSG00000272578', 'score': 9.99}, {'connected_gene': 'ENSG00000272787', 'score': 9.73}, {'connected_gene': 'LRRC75B', 'score': 9.66}, {'connected_gene': 'C22orf15', 'score': 0.44}]
chr22 GH22I024591 24591950 24594656 2.16 [{'connected_gene': 'LRRC75B', 'score': 550.77}, {'connected_gene': 'GGT1', 'score': 27.9}, {'connected_gene': 'ENSG00000230947', 'score': 0.77}, {'connected_gene': 'SNRPD3', 'score': 0.28}]
chr22 GH22I024588 24588065 24589401 0.54 [{'connected_gene': 'GGT1', 'score': 0.77}, {'connected_gene': 'LRRC75B', 'score': 0.77}, {'connected_gene': 'SNRPD3', 'score': 0.29}]
chr22 GH22I024600 24600854 24604977 1.59 [{'connected_gene': 'GGT1', 'score': 580.72}, {'connected_gene': 'LRRC75B', 'score': 10.54}, {'connected_gene': 'CHCHD10', 'score': 5.09}, {'connected_gene': 'ENSG00000230947', 'score': 0.77}, {'connected_gene': 'BCRP3', 'score': 0.31}, {'connected_gene': 'SNRPD3', 'score': 0.25}]
chr22 GH22I024559 24559179 24560071 0.38 [{'connected_gene': 'GGT1', 'score': 12.88}, {'connected_gene': 'LRRC75B', 'score': 12.83}, {'connected_gene': 'ENSG00000230947', 'score': 12.82}, {'connected_gene': 'ADORA2A', 'score': 10.99}, {'connected_gene': 'SPECC1L', 'score': 10.95}, {'connected_gene': 'BCRP3', 'score': 5.85}, {'connected_gene': 'GUCD1', 'score': 5.33}, {'connected_gene': 'SNRPD3', 'score': 0.77}]
chr22 GH22I024583 24583108 24584671 1.51 [{'connected_gene': 'GGT1', 'score': 550.77}, {'connected_gene': 'POM121L9P', 'score': 5.7}, {'connected_gene': 'LRRC75B', 'score': 0.44}, {'connected_gene': 'SNRPD3', 'score': 0.31}]
chr22 GH22I024629 24629200 24629601 0.52 [{'connected_gene': 'ENSG00000230947', 'score': 13.07}, {'connected_gene': 'LRRC75B', 'score': 13.05}, {'connected_gene': 'GGT1', 'score': 13.02}, {'connected_gene': 'BCRP3', 'score': 0.77}]