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
ENST00000601935 [[23708432, 23709389], [23710719, 23710816], [23844915, 23845011], [23845833, 23845960], [23869832, 23869999]] [[23709358, 23709389], [23710719, 23710816], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000600313 [[23716981, 23717119], [23844915, 23845011], [23845833, 23845960], [23869832, 23870014]] [[23716988, 23717119], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000596211 [[23756858, 23757034], [23844915, 23845011], [23845833, 23845960], [23869832, 23870014]] [[23757020, 23757034], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000359788 [[23835602, 23837508], [23844915, 23845011], [23845833, 23845960], [23869832, 23870004]] [[23836027, 23837508], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000599535 [[23837213, 23837508], [23844915, 23845011], [23845833, 23845960], [23868980, 23869183]] [[23837213, 23837508], [23844915, 23844934]]
ENST00000597074 [[23837347, 23837508], [23839523, 23839624], [23844915, 23845011], [23845833, 23845960], [23869832, 23869942]] [[23839583, 23839624], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000601010 [[23841186, 23841474], [23844915, 23845011], [23845833, 23845960], [23869832, 23869990]] [[23841394, 23841474], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000599168 [[23844736, 23845011], [23845833, 23845960], [23869832, 23870022]] [[23844907, 23845011], [23845833, 23845960], [23869832, 23869835]]
ENST00000600299 [[23835709, 23839936]] None
NM_138330 [[23835707, 23837508], [23844915, 23845011], [23845833, 23845960], [23869832, 23870017]] [[23836027, 23837508], [23844915, 23845011], [23845833, 23845960], [23869832, 23869835]]
Promoter
Chrom Start End Description
chr19 23869970 23869991 CAGE_peak_1_at_ZNF675_5end
chr19 23870007 23870022 CAGE_peak_2_at_ZNF675_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I023801 23801284 23803068 0.38 [{'connected_gene': 'ZNF726', 'score': 7.84}, {'connected_gene': 'ZNF675', 'score': 4.36}, {'connected_gene': 'BNIP3P39', 'score': 0.77}, {'connected_gene': 'GC19P023828', 'score': 0.31}, {'connected_gene': 'ENSG00000233836', 'score': 0.28}, {'connected_gene': 'RPSAP58', 'score': 0.28}]
chr19 GH19I023685 23685118 23688172 1.98 [{'connected_gene': 'ZNF675', 'score': 565.25}, {'connected_gene': 'ZNF91', 'score': 19.32}, {'connected_gene': 'ENSG00000233836', 'score': 19.13}, {'connected_gene': 'ENSG00000268362', 'score': 18.72}, {'connected_gene': 'ZNF254', 'score': 15.82}, {'connected_gene': 'BNIP3P40', 'score': 10.46}, {'connected_gene': 'GC19P023634', 'score': 0.23}]
chr19 GH19I023510 23510199 23510308 0.31 [{'connected_gene': 'ZNF675', 'score': 4.17}, {'connected_gene': 'ZNF725P', 'score': 0.77}, {'connected_gene': 'PIR44465', 'score': 0.44}, {'connected_gene': 'GC19M023502', 'score': 0.44}]
chr19 GH19I023718 23718999 23719148 0.2 [{'connected_gene': 'ZNF675', 'score': 5.73}, {'connected_gene': 'GC19M023721', 'score': 0.77}, {'connected_gene': 'GC19M023703', 'score': 0.34}]
chr19 GH19I023698 23698799 23699737 0.59 [{'connected_gene': 'ZNF675', 'score': 0.39}, {'connected_gene': 'GC19M023721', 'score': 0.34}]
chr19 GH19I023672 23672619 23672863 0.22 [{'connected_gene': 'ZNF681', 'score': 12.02}, {'connected_gene': 'ENSG00000233836', 'score': 12.01}, {'connected_gene': 'ZNF675', 'score': 0.39}, {'connected_gene': 'GC19P023634', 'score': 0.28}]
chr19 GH19I023547 23547693 23551196 0.38 [{'connected_gene': 'LOC105372338', 'score': 550.77}, {'connected_gene': 'ENSG00000233836', 'score': 6.04}, {'connected_gene': 'ZNF675', 'score': 5.2}, {'connected_gene': 'ENSG00000268362', 'score': 4.19}, {'connected_gene': 'LOC105372337', 'score': 0.37}]
chr19 GH19I023525 23525425 23526228 0.31 [{'connected_gene': 'LINC01224', 'score': 10.31}, {'connected_gene': 'GOLGA2P9', 'score': 5.54}, {'connected_gene': 'ENSG00000233836', 'score': 4.59}, {'connected_gene': 'LOC105372337', 'score': 0.44}, {'connected_gene': 'ZNF725P', 'score': 0.39}, {'connected_gene': 'ZNF675', 'score': 0.1}]
chr19 GH19I023798 23798782 23801139 0.31 [{'connected_gene': 'BNIP3P39', 'score': 550.77}, {'connected_gene': 'ENSG00000233836', 'score': 18.87}, {'connected_gene': 'ZNF681', 'score': 12.09}, {'connected_gene': 'ENSG00000268362', 'score': 5.28}, {'connected_gene': 'ENSG00000269397', 'score': 5.04}, {'connected_gene': 'ZNF726', 'score': 4.68}, {'connected_gene': 'ZNF675', 'score': 4.33}, {'connected_gene': 'ZNF91', 'score': 3.89}, {'connected_gene': 'GC19P023828', 'score': 0.31}, {'connected_gene': 'RPSAP58', 'score': 0.28}]
chr19 GH19I023724 23724205 23724961 0.31 [{'connected_gene': 'ENSG00000233836', 'score': 19.0}, {'connected_gene': 'ZNF675', 'score': 12.93}, {'connected_gene': 'ZNF681', 'score': 12.64}, {'connected_gene': 'GC19M023721', 'score': 0.77}, {'connected_gene': 'GC19P023736', 'score': 0.39}, {'connected_gene': 'GC19M023703', 'score': 0.37}]
chr19 GH19I023553 23553319 23555728 0.2 [{'connected_gene': 'GC19M023551', 'score': 550.77}, {'connected_gene': 'ENSG00000268362', 'score': 6.13}, {'connected_gene': 'ENSG00000233836', 'score': 5.7}, {'connected_gene': 'ZNF675', 'score': 5.22}, {'connected_gene': 'LOC105372338', 'score': 0.77}]
chr19 GH19I023810 23810648 23811324 0.31 [{'connected_gene': 'ENSG00000233836', 'score': 15.08}, {'connected_gene': 'ZNF675', 'score': 5.55}, {'connected_gene': 'BNIP3P39', 'score': 0.39}, {'connected_gene': 'GC19P023828', 'score': 0.37}, {'connected_gene': 'RPSAP58', 'score': 0.25}]
chr19 GH19I023786 23786579 23788233 0.31 [{'connected_gene': 'ENSG00000268362', 'score': 12.64}, {'connected_gene': 'ZNF675', 'score': 5.52}, {'connected_gene': 'IPO5P1', 'score': 3.96}, {'connected_gene': 'BNIP3P39', 'score': 0.39}, {'connected_gene': 'GC19M023775', 'score': 0.39}, {'connected_gene': 'ENSG00000233836', 'score': 0.34}, {'connected_gene': 'RPSAP58', 'score': 0.34}]
chr19 GH19I023665 23665577 23667020 0.2 [{'connected_gene': 'ENSG00000233836', 'score': 6.11}, {'connected_gene': 'ZNF675', 'score': 0.34}, {'connected_gene': 'GC19P023634', 'score': 0.29}]