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
ENST00000528712 [[11534467, 11534572], [11558019, 11558287], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11617509]] [[11606429, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
ENST00000532977 [[11534468, 11534572], [11558019, 11558287], [11565364, 11565869]] [[11565821, 11565869]]
ENST00000526974 [[11550134, 11550169], [11558016, 11558287], [11565364, 11565890]] [[11565821, 11565890]]
ENST00000526716 [[11561659, 11561813], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614591]] [[11606429, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614591]]
ENST00000335135 [[11561712, 11561813], [11565364, 11566437], [11606427, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11617511]] [[11565821, 11566437], [11606427, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
ENST00000528027 [[11561730, 11561813], [11563422, 11563542], [11565364, 11566171]] [[11565821, 11566171]]
ENST00000532059 [[11565741, 11566437], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11616031]] [[11565821, 11566437], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
ENST00000526021 [[11614001, 11614592], [11615801, 11616274]] None
NM_001308094 [[11534427, 11534572], [11558019, 11558287], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11617511]] [[11606429, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
NM_002052 [[11561659, 11561813], [11565364, 11566437], [11606427, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11617511]] [[11565821, 11566437], [11606427, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
NM_001308093 [[11565364, 11566437], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11617511]] [[11565821, 11566437], [11606424, 11606594], [11607619, 11607745], [11612554, 11612642], [11614443, 11614592], [11615801, 11615984]]
Promoter
Chrom Start End Description
chr8 11534438 11534451 CAGE_peak_3_at_GATA4_5end
chr8 11534462 11534475 CAGE_peak_6_at_GATA4_5end
chr8 11534512 11534519 CAGE_peak_7_at_GATA4_5end
chr8 11534521 11534533 CAGE_peak_4_at_GATA4_5end
chr8 11561453 11561466 CAGE_peak_2_at_GATA4_5end
chr8 11561684 11561751 CAGE_peak_1_at_GATA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I011662 11662526 11663356 0.69 [{'connected_gene': 'FAM167A', 'score': 9.91}, {'connected_gene': 'GATA4', 'score': 0.39}, {'connected_gene': 'LOC105379242', 'score': 0.29}]
chr8 GH08I011661 11661025 11661990 0.4 [{'connected_gene': 'FAM167A', 'score': 9.85}, {'connected_gene': 'ALG1L11P', 'score': 5.61}, {'connected_gene': 'GATA4', 'score': 0.37}, {'connected_gene': 'LOC105379242', 'score': 0.31}]
chr8 GH08I011732 11732102 11733039 0.38 [{'connected_gene': 'FAM167A', 'score': 10.11}, {'connected_gene': 'LOC105379241', 'score': 5.22}, {'connected_gene': 'ENSG00000255518', 'score': 4.85}, {'connected_gene': 'C8orf49', 'score': 0.31}, {'connected_gene': 'LOC101929490', 'score': 0.22}, {'connected_gene': 'GATA4', 'score': 0.22}]
chr8 GH08I011684 11682492 11682641 0.58 [{'connected_gene': 'FAM167A', 'score': 10.07}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011759 11759552 11759701 0.51 [{'connected_gene': 'C8orf49', 'score': 550.77}, {'connected_gene': 'CTSB', 'score': 5.92}, {'connected_gene': 'LOC101929490', 'score': 0.18}, {'connected_gene': 'GATA4', 'score': 0.18}]
chr8 GH08I011746 11745072 11745221 0.4 [{'connected_gene': 'C8orf49', 'score': 0.37}, {'connected_gene': 'LOC101929490', 'score': 0.2}, {'connected_gene': 'GATA4', 'score': 0.2}]
chr8 GH08I011738 11738669 11738898 0.31 [{'connected_gene': 'C8orf49', 'score': 0.34}, {'connected_gene': 'LOC101929490', 'score': 0.21}, {'connected_gene': 'GATA4', 'score': 0.21}]
chr8 GH08I011645 11645974 11647037 0.2 [{'connected_gene': 'GATA4', 'score': 12.07}, {'connected_gene': 'FAM167A', 'score': 10.31}, {'connected_gene': 'DEFB134', 'score': 5.16}, {'connected_gene': 'LOC105379242', 'score': 0.39}]
chr8 GH08I011643 11643784 11644161 0.2 [{'connected_gene': 'GATA4', 'score': 12.07}, {'connected_gene': 'FAM167A', 'score': 10.31}, {'connected_gene': 'LOC105379242', 'score': 0.39}]
chr8 GH08I011640 11640727 11643584 0.89 [{'connected_gene': 'GATA4', 'score': 12.07}, {'connected_gene': 'ENSG00000255518', 'score': 10.72}, {'connected_gene': 'ENSG00000255354', 'score': 10.72}, {'connected_gene': 'LOC105379241', 'score': 10.71}, {'connected_gene': 'BLK', 'score': 10.65}, {'connected_gene': 'DEFB136', 'score': 10.46}, {'connected_gene': 'DEFB135', 'score': 10.46}, {'connected_gene': 'FAM167A', 'score': 10.31}, {'connected_gene': 'ENSG00000269918', 'score': 5.9}, {'connected_gene': 'ALG1L11P', 'score': 5.55}, {'connected_gene': 'ENSG00000255310', 'score': 4.71}, {'connected_gene': 'FAM85A', 'score': 4.67}, {'connected_gene': 'LOC105379242', 'score': 0.44}]
chr8 GH08I011696 11696903 11721978 2.57 [{'connected_gene': 'GATA4', 'score': 576.16}, {'connected_gene': 'RPS3AP34', 'score': 13.03}, {'connected_gene': 'ENSG00000255354', 'score': 11.11}, {'connected_gene': 'ENSG00000255518', 'score': 11.1}, {'connected_gene': 'LOC105379241', 'score': 11.1}, {'connected_gene': 'BLK', 'score': 11.08}, {'connected_gene': 'FAM167A', 'score': 10.56}, {'connected_gene': 'ENSG00000255310', 'score': 5.13}, {'connected_gene': 'ENSG00000269954', 'score': 4.8}, {'connected_gene': 'FAM85A', 'score': 4.67}, {'connected_gene': 'CTSB', 'score': 4.64}, {'connected_gene': 'FAM167A-AS1', 'score': 4.59}, {'connected_gene': 'LOC649352', 'score': 4.58}, {'connected_gene': 'NEIL2', 'score': 4.56}, {'connected_gene': 'LOC101929490', 'score': 0.29}, {'connected_gene': 'C8orf49', 'score': 0.23}]
chr8 GH08I011745 11745988 11747494 1.35 [{'connected_gene': 'NEIL2', 'score': 9.42}, {'connected_gene': 'BLK', 'score': 5.15}, {'connected_gene': 'C8orf49', 'score': 0.39}, {'connected_gene': 'LOC101929490', 'score': 0.2}, {'connected_gene': 'GATA4', 'score': 0.2}]
chr8 GH08I011756 11756693 11759135 0.68 [{'connected_gene': 'NEIL2', 'score': 14.58}, {'connected_gene': 'C8orf49', 'score': 10.52}, {'connected_gene': 'CTSB', 'score': 5.62}, {'connected_gene': 'LOC101929490', 'score': 0.18}, {'connected_gene': 'GATA4', 'score': 0.18}]
chr8 GH08I011753 11753027 11754329 0.38 [{'connected_gene': 'NEIL2', 'score': 11.02}, {'connected_gene': 'LOC105379241', 'score': 9.81}, {'connected_gene': 'FAM85A', 'score': 6.26}, {'connected_gene': 'C8orf49', 'score': 0.44}, {'connected_gene': 'LOC101929490', 'score': 0.18}, {'connected_gene': 'GATA4', 'score': 0.18}]
chr8 GH08I011633 11633112 11633261 0.67 [{'connected_gene': 'LOC105379242', 'score': 550.77}, {'connected_gene': 'GATA4', 'score': 0.26}]
chr8 GH08I011670 11670948 11672101 0.98 [{'connected_gene': 'LOC105379241', 'score': 9.96}, {'connected_gene': 'BLK', 'score': 9.93}, {'connected_gene': 'FAM167A', 'score': 9.65}, {'connected_gene': 'ENSG00000255518', 'score': 4.34}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'LOC105379242', 'score': 0.28}]
chr8 GH08I011682 11682680 11684330 0.89 [{'connected_gene': 'LOC105379241', 'score': 10.14}, {'connected_gene': 'BLK', 'score': 10.1}, {'connected_gene': 'FAM167A', 'score': 10.07}, {'connected_gene': 'ENSG00000255310', 'score': 8.08}, {'connected_gene': 'ENSG00000269918', 'score': 6.81}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011687 11687085 11688521 0.74 [{'connected_gene': 'LOC105379241', 'score': 10.13}, {'connected_gene': 'BLK', 'score': 10.1}, {'connected_gene': 'ENSG00000269954', 'score': 6.31}, {'connected_gene': 'ENSG00000255310', 'score': 5.55}, {'connected_gene': 'LOC649352', 'score': 5.0}, {'connected_gene': 'GATA4', 'score': 0.39}, {'connected_gene': 'LOC101929490', 'score': 0.39}, {'connected_gene': 'C8orf49', 'score': 0.19}]
chr8 GH08I011735 11735810 11737535 1.4 [{'connected_gene': 'LOC105379241', 'score': 27.09}, {'connected_gene': 'BLK', 'score': 11.3}, {'connected_gene': 'ENSG00000269918', 'score': 7.15}, {'connected_gene': 'ENSG00000269954', 'score': 4.26}, {'connected_gene': 'C8orf49', 'score': 0.34}, {'connected_gene': 'LOC101929490', 'score': 0.22}, {'connected_gene': 'GATA4', 'score': 0.22}]
chr8 GH08I011733 11733125 11734328 0.52 [{'connected_gene': 'LOC105379241', 'score': 11.33}, {'connected_gene': 'BLK', 'score': 11.3}, {'connected_gene': 'ENSG00000269954', 'score': 9.46}, {'connected_gene': 'C8orf49', 'score': 0.31}, {'connected_gene': 'LOC101929490', 'score': 0.22}, {'connected_gene': 'GATA4', 'score': 0.22}]
chr8 GH08I011688 11686072 11686221 0.38 [{'connected_gene': 'LOC105379241', 'score': 10.13}, {'connected_gene': 'BLK', 'score': 10.1}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011685 11685792 11685941 0.63 [{'connected_gene': 'LOC105379241', 'score': 10.13}, {'connected_gene': 'BLK', 'score': 10.1}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011686 11685342 11685643 0.43 [{'connected_gene': 'LOC105379241', 'score': 10.14}, {'connected_gene': 'BLK', 'score': 10.1}, {'connected_gene': 'ENSG00000255310', 'score': 6.49}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011690 11690809 11692850 0.83 [{'connected_gene': 'LOC105379241', 'score': 10.62}, {'connected_gene': 'BLK', 'score': 10.58}, {'connected_gene': 'LOC101929490', 'score': 0.39}, {'connected_gene': 'GATA4', 'score': 0.39}, {'connected_gene': 'C8orf49', 'score': 0.2}]
chr8 GH08I011689 11689356 11690308 0.31 [{'connected_gene': 'LOC105379241', 'score': 10.13}, {'connected_gene': 'BLK', 'score': 10.09}, {'connected_gene': 'LOC101929490', 'score': 0.39}, {'connected_gene': 'GATA4', 'score': 0.39}, {'connected_gene': 'C8orf49', 'score': 0.19}]
chr8 GH08I011729 11729730 11731713 0.7 [{'connected_gene': 'LOC105379241', 'score': 16.65}, {'connected_gene': 'ENSG00000269918', 'score': 7.34}, {'connected_gene': 'ENSG00000269954', 'score': 4.93}, {'connected_gene': 'C8orf49', 'score': 0.29}, {'connected_gene': 'LOC101929490', 'score': 0.23}, {'connected_gene': 'GATA4', 'score': 0.23}]
chr8 GH08I011747 11747740 11750640 0.2 [{'connected_gene': 'LOC105379241', 'score': 22.21}, {'connected_gene': 'NEIL2', 'score': 11.25}, {'connected_gene': 'DEFB136', 'score': 10.92}, {'connected_gene': 'DEFB135', 'score': 10.91}, {'connected_gene': 'BLK', 'score': 10.8}, {'connected_gene': 'ENSG00000255354', 'score': 10.74}, {'connected_gene': 'ENSG00000255518', 'score': 10.74}, {'connected_gene': 'FAM167A', 'score': 10.65}, {'connected_gene': 'C8orf49', 'score': 9.49}, {'connected_gene': 'SUB1P1', 'score': 5.4}, {'connected_gene': 'GATA4', 'score': 0.19}, {'connected_gene': 'LOC101929490', 'score': 0.19}]
chr8 GH08I011726 11726126 11727228 1 [{'connected_gene': 'LOC105379241', 'score': 12.95}, {'connected_gene': 'ENSG00000255310', 'score': 7.09}, {'connected_gene': 'ENSG00000255518', 'score': 5.77}, {'connected_gene': 'NEIL2', 'score': 5.71}, {'connected_gene': 'C8orf49', 'score': 0.29}, {'connected_gene': 'LOC101929490', 'score': 0.25}, {'connected_gene': 'GATA4', 'score': 0.25}]
chr8 GH08I011693 11693278 11693459 0.56 [{'connected_gene': 'LOC101929490', 'score': 0.37}, {'connected_gene': 'GATA4', 'score': 0.37}, {'connected_gene': 'C8orf49', 'score': 0.2}]
chr8 GH08I011675 11675138 11678706 1.01 [{'connected_gene': 'LOC101929490', 'score': 550.77}, {'connected_gene': 'GATA4', 'score': 550.77}, {'connected_gene': 'ENSG00000255518', 'score': 13.35}, {'connected_gene': 'RPS3AP34', 'score': 13.03}, {'connected_gene': 'ENSG00000269918', 'score': 6.88}, {'connected_gene': 'LOC105379242', 'score': 0.26}]
chr8 GH08I011679 11679069 11681991 1.02 [{'connected_gene': 'RPS3AP34', 'score': 22.39}, {'connected_gene': 'PINX1', 'score': 15.37}, {'connected_gene': 'LOC101929290', 'score': 13.42}, {'connected_gene': 'LOC105379241', 'score': 8.68}, {'connected_gene': 'ENSG00000269918', 'score': 7.4}, {'connected_gene': 'FDFT1', 'score': 6.66}, {'connected_gene': 'LOC100129129', 'score': 5.49}, {'connected_gene': 'GATA4', 'score': 4.36}, {'connected_gene': 'LOC101929490', 'score': 0.77}, {'connected_gene': 'C8orf49', 'score': 0.18}]
chr8 GH08I011724 11724505 11725787 0.31 [{'connected_gene': 'ENSG00000269918', 'score': 4.53}, {'connected_gene': 'C8orf49', 'score': 0.28}, {'connected_gene': 'LOC101929490', 'score': 0.25}, {'connected_gene': 'GATA4', 'score': 0.25}]
chr8 GH08I011739 11739275 11744959 1.63 [{'connected_gene': 'ENSG00000269918', 'score': 10.9}, {'connected_gene': 'NEIL2', 'score': 9.84}, {'connected_gene': 'LOC105379241', 'score': 9.23}, {'connected_gene': 'FDFT1', 'score': 5.72}, {'connected_gene': 'ENSG00000269954', 'score': 5.45}, {'connected_gene': 'FAM85A', 'score': 5.32}, {'connected_gene': 'ENSG00000270154', 'score': 4.25}, {'connected_gene': 'FAM167A', 'score': 4.22}, {'connected_gene': 'C8orf49', 'score': 0.37}, {'connected_gene': 'GATA4', 'score': 0.2}, {'connected_gene': 'LOC101929490', 'score': 0.2}]
chr8 GH08I011672 11672673 11673091 0.2 [{'connected_gene': 'ENSG00000255518', 'score': 12.81}, {'connected_gene': 'LOC105379241', 'score': 9.96}, {'connected_gene': 'BLK', 'score': 9.93}, {'connected_gene': 'FAM167A', 'score': 9.65}, {'connected_gene': 'GATA4', 'score': 0.77}, {'connected_gene': 'LOC105379242', 'score': 0.26}]
chr8 GH08I011683 11682192 11682341 0.58 [{'connected_gene': 'ENSG00000255518', 'score': 7.69}, {'connected_gene': 'LOC101929490', 'score': 0.44}, {'connected_gene': 'GATA4', 'score': 0.44}, {'connected_gene': 'C8orf49', 'score': 0.18}]

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