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
ENST00000290271 [[23699427, 23702553], [23708832, 23709044], [23709754, 23709897], [23711918, 23712320]] [[23702282, 23702553], [23708832, 23709044], [23709754, 23709897], [23711918, 23712036]]
ENST00000524323 [[23701426, 23702553], [23708832, 23709044], [23709754, 23709897], [23711558, 23711824]] [[23702282, 23702553], [23708832, 23709044], [23709754, 23709808]]
NM_003155 [[23699433, 23702553], [23708832, 23709044], [23709754, 23709897], [23711918, 23712320]] [[23702282, 23702553], [23708832, 23709044], [23709754, 23709897], [23711918, 23712036]]
Promoter
Chrom Start End Description
chr8 23699989 23700003 CAGE_peak_2_at_STC1_5end
chr8 23700042 23700103 CAGE_peak_4_at_STC1_5end
chr8 23700304 23700316 CAGE_peak_7_at_STC1_5end
chr8 23700350 23700367 CAGE_peak_9_at_STC1_5end
chr8 23700484 23700506 CAGE_peak_6_at_STC1_5end
chr8 23711581 23711630 CAGE_peak_5_at_STC1_5end
chr8 23711991 23712006 CAGE_peak_8_at_STC1_5end
chr8 23712012 23712048 CAGE_peak_3_at_STC1_5end
chr8 23712312 23712328 CAGE_peak_1_at_STC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023538 23538165 23543672 1.61 [{'connected_gene': 'ENTPD4', 'score': 28.37}, {'connected_gene': 'ENSG00000253200', 'score': 17.04}, {'connected_gene': 'C8orf58', 'score': 13.65}, {'connected_gene': 'BIN3', 'score': 13.55}, {'connected_gene': 'LOC107986927', 'score': 13.12}, {'connected_gene': 'CHMP7', 'score': 12.1}, {'connected_gene': 'ENSG00000253390', 'score': 10.83}, {'connected_gene': 'SLC25A37', 'score': 8.22}, {'connected_gene': 'STC1', 'score': 5.14}, {'connected_gene': 'TNFRSF10B', 'score': 3.56}, {'connected_gene': 'TNFRSF10C', 'score': 3.21}, {'connected_gene': 'GC08M023551', 'score': 0.39}]
chr8 GH08I023891 23891811 23893497 0.58 [{'connected_gene': 'STC1', 'score': 10.83}, {'connected_gene': 'NKX3-1', 'score': 9.83}, {'connected_gene': 'GC08P023881', 'score': 0.39}, {'connected_gene': 'GC08P023963', 'score': 0.19}]
chr8 GH08I023888 23888986 23890731 0.77 [{'connected_gene': 'STC1', 'score': 10.83}, {'connected_gene': 'NKX3-1', 'score': 9.83}, {'connected_gene': 'GC08P023881', 'score': 0.44}, {'connected_gene': 'GC08P023963', 'score': 0.19}]
chr8 GH08I023987 23987005 23987140 0.22 [{'connected_gene': 'STC1', 'score': 10.05}, {'connected_gene': 'GC08P023963', 'score': 0.34}, {'connected_gene': 'GC08M024077', 'score': 0.16}, {'connected_gene': 'RNU1-148P', 'score': 0.16}]
chr8 GH08I023974 23974043 23975582 0.65 [{'connected_gene': 'STC1', 'score': 10.3}, {'connected_gene': 'GC08P023963', 'score': 0.39}, {'connected_gene': 'GC08M024077', 'score': 0.15}, {'connected_gene': 'RNU1-148P', 'score': 0.15}]
chr8 GH08I023977 23977076 23980723 0.91 [{'connected_gene': 'STC1', 'score': 10.37}, {'connected_gene': 'GC08P023963', 'score': 0.37}, {'connected_gene': 'GC08M024077', 'score': 0.15}, {'connected_gene': 'RNU1-148P', 'score': 0.15}]
chr8 GH08I024152 24152654 24157250 1.18 [{'connected_gene': 'STC1', 'score': 12.48}, {'connected_gene': 'ENSG00000253891', 'score': 0.34}, {'connected_gene': 'LOC105379328', 'score': 0.21}, {'connected_gene': 'GC08P024089', 'score': 0.2}]
chr8 GH08I023796 23796799 23799772 1.22 [{'connected_gene': 'STC1', 'score': 12.35}, {'connected_gene': 'ENSG00000271118', 'score': 0.44}, {'connected_gene': 'LOC101929258', 'score': 0.22}]
chr8 GH08I023828 23828008 23828137 0.31 [{'connected_gene': 'STC1', 'score': 11.38}, {'connected_gene': 'GC08M023807', 'score': 0.34}, {'connected_gene': 'ENSG00000207027', 'score': 0.34}]
chr8 GH08I024216 24216771 24219912 1.23 [{'connected_gene': 'STC1', 'score': 10.36}, {'connected_gene': 'GC08M024201', 'score': 0.39}, {'connected_gene': 'GC08M024224', 'score': 0.39}, {'connected_gene': 'GC08P024089', 'score': 0.13}]
chr8 GH08I023932 23932068 23932217 0.43 [{'connected_gene': 'STC1', 'score': 10.86}, {'connected_gene': 'GC08P023963', 'score': 0.29}, {'connected_gene': 'GC08P023881', 'score': 0.23}]
chr8 GH08I024194 24194588 24194757 0.82 [{'connected_gene': 'STC1', 'score': 10.76}, {'connected_gene': 'GC08M024201', 'score': 0.39}, {'connected_gene': 'ENSG00000253891', 'score': 0.37}, {'connected_gene': 'GC08P024089', 'score': 0.14}]
chr8 GH08I023853 23853185 23855001 2 [{'connected_gene': 'STC1', 'score': 554.64}, {'connected_gene': 'GC08M023807', 'score': 0.25}, {'connected_gene': 'ENSG00000207027', 'score': 0.25}]
chr8 GH08I023898 23898008 23898094 0.56 [{'connected_gene': 'STC1', 'score': 10.79}, {'connected_gene': 'GC08P023881', 'score': 0.37}, {'connected_gene': 'GC08P023963', 'score': 0.2}]
chr8 GH08I023896 23896710 23897933 0.59 [{'connected_gene': 'STC1', 'score': 10.79}, {'connected_gene': 'GC08P023881', 'score': 0.37}, {'connected_gene': 'GC08P023963', 'score': 0.2}]
chr8 GH08I023918 23918113 23918808 0.38 [{'connected_gene': 'STC1', 'score': 10.66}, {'connected_gene': 'GC08P023881', 'score': 0.28}, {'connected_gene': 'GC08P023963', 'score': 0.26}]
chr8 GH08I024191 24191896 24194166 0.79 [{'connected_gene': 'STC1', 'score': 10.76}, {'connected_gene': 'GC08M024201', 'score': 0.37}, {'connected_gene': 'ENSG00000253891', 'score': 0.37}, {'connected_gene': 'GC08P024089', 'score': 0.15}]
chr8 GH08I023859 23859408 23859517 0.54 [{'connected_gene': 'STC1', 'score': 0.77}, {'connected_gene': 'GC08P023881', 'score': 0.34}]
chr8 GH08I023861 23861080 23862461 0.38 [{'connected_gene': 'STC1', 'score': 0.44}, {'connected_gene': 'GC08P023881', 'score': 0.37}]
chr8 GH08I023760 23760818 23763735 1.53 [{'connected_gene': 'NKX3-1', 'score': 11.05}, {'connected_gene': 'STC1', 'score': 10.17}, {'connected_gene': 'SLC25A37', 'score': 9.66}, {'connected_gene': 'ENTPD4', 'score': 2.04}, {'connected_gene': 'LOC101929258', 'score': 0.37}, {'connected_gene': 'ENSG00000271118', 'score': 0.26}, {'connected_gene': 'ENSG00000253471', 'score': 0.22}]
chr8 GH08I023960 23960689 23962065 0.31 [{'connected_gene': 'GC08P023963', 'score': 550.77}, {'connected_gene': 'STC1', 'score': 10.71}, {'connected_gene': 'GC08P023881', 'score': 0.18}]
chr8 GH08I023850 23850468 23850657 0.2 [{'connected_gene': 'ENSG00000207027', 'score': 10.28}, {'connected_gene': 'STC1', 'score': 0.77}, {'connected_gene': 'GC08M023807', 'score': 0.26}]
chr8 GH08I023842 23842007 23842210 0.4 [{'connected_gene': 'ENSG00000207027', 'score': 10.91}, {'connected_gene': 'STC1', 'score': 0.39}, {'connected_gene': 'GC08M023807', 'score': 0.28}]
chr8 GH08I023880 23880948 23881792 0.51 [{'connected_gene': 'GC08P023881', 'score': 550.77}, {'connected_gene': 'STC1', 'score': 11.38}, {'connected_gene': 'GC08P023963', 'score': 0.18}]
chr8 GH08I023848 23848768 23849298 0.31 [{'connected_gene': 'ENSG00000207027', 'score': 10.52}, {'connected_gene': 'STC1', 'score': 4.59}, {'connected_gene': 'GC08M023807', 'score': 0.26}]