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
ENST00000367558 [[182567757, 182569648], [182571100, 182571267], [182571554, 182571619], [182572363, 182572474], [182573350, 182573543]] [[182569426, 182569648], [182571100, 182571267], [182571554, 182571619], [182572363, 182572474], [182573350, 182573394]]
NM_002928 [[182567757, 182569648], [182571100, 182571267], [182571554, 182571619], [182572363, 182572474], [182573350, 182573548]] [[182569426, 182569648], [182571100, 182571267], [182571554, 182571619], [182572363, 182572474], [182573350, 182573394]]
Promoter
Chrom Start End Description
chr1 182573514 182573534 CAGE_peak_1_at_RGS16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I182672 182672847 182672906 0.68 [{'connected_gene': 'RGS8', 'score': 550.18}, {'connected_gene': 'RGS16', 'score': 10.68}, {'connected_gene': 'GC01M182641', 'score': 0.31}, {'connected_gene': 'LINC01688', 'score': 0.28}, {'connected_gene': 'GC01P182625', 'score': 0.25}]
chr1 GH01I182671 182671914 182671973 0.61 [{'connected_gene': 'RGS8', 'score': 550.18}, {'connected_gene': 'RGS16', 'score': 10.68}, {'connected_gene': 'GC01M182641', 'score': 0.31}, {'connected_gene': 'LINC01688', 'score': 0.26}, {'connected_gene': 'GC01P182625', 'score': 0.25}]
chr1 GH01I182753 182752446 182752595 0.2 [{'connected_gene': 'RGS8', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 11.1}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182752 182752047 182752355 0.2 [{'connected_gene': 'RGS8', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 11.1}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182608 182608475 182609964 0.7 [{'connected_gene': 'RNASEL', 'score': 6.74}, {'connected_gene': 'RGS16', 'score': 0.77}, {'connected_gene': 'LINC01686', 'score': 0.44}]
chr1 GH01I182599 182599446 182599595 0.43 [{'connected_gene': 'RNASEL', 'score': 20.77}, {'connected_gene': 'GC01M182527', 'score': 0.77}, {'connected_gene': 'RGS16', 'score': 0.77}]
chr1 GH01I182633 182633367 182634745 1.11 [{'connected_gene': 'RGS16', 'score': 12.21}, {'connected_gene': 'RGS8', 'score': 11.21}, {'connected_gene': 'GC01M182641', 'score': 0.44}, {'connected_gene': 'GC01P182625', 'score': 0.44}]
chr1 GH01I182632 182632601 182632800 1.04 [{'connected_gene': 'RGS16', 'score': 11.68}, {'connected_gene': 'RGS8', 'score': 11.18}, {'connected_gene': 'GC01P182625', 'score': 0.44}, {'connected_gene': 'GC01M182641', 'score': 0.39}]
chr1 GH01I182600 182600966 182604995 2.43 [{'connected_gene': 'RGS16', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 33.72}, {'connected_gene': 'RNASEL', 'score': 23.09}, {'connected_gene': 'LAMC1-AS1', 'score': 21.83}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'LAMC1', 'score': 11.35}, {'connected_gene': 'LAMC2', 'score': 10.19}, {'connected_gene': 'GC01M182527', 'score': 0.44}]
chr1 GH01I182674 182674061 182677043 0.71 [{'connected_gene': 'RGS16', 'score': 12.35}, {'connected_gene': 'GC01M182641', 'score': 0.29}, {'connected_gene': 'LINC01688', 'score': 0.28}, {'connected_gene': 'GC01P182625', 'score': 0.25}, {'connected_gene': 'RGS8', 'score': 0.18}]
chr1 GH01I182686 182686935 182689034 0.62 [{'connected_gene': 'RGS16', 'score': 10.37}, {'connected_gene': 'LINC01688', 'score': 7.38}, {'connected_gene': 'GC01M182641', 'score': 0.26}, {'connected_gene': 'RGS8', 'score': 0.2}]
chr1 GH01I182738 182738756 182740245 0.71 [{'connected_gene': 'RGS16', 'score': 10.54}, {'connected_gene': 'LOC100421471', 'score': 0.44}, {'connected_gene': 'RGS8', 'score': 0.39}]
chr1 GH01I182611 182611358 182612495 0.92 [{'connected_gene': 'LINC01686', 'score': 0.77}, {'connected_gene': 'RGS16', 'score': 0.44}]
chr1 GH01I182613 182613949 182617314 1.75 [{'connected_gene': 'LINC01686', 'score': 550.77}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'DHX9', 'score': 14.13}, {'connected_gene': 'LAMC1-AS1', 'score': 12.72}, {'connected_gene': 'SMG7-AS1', 'score': 11.27}, {'connected_gene': 'RGS16', 'score': 7.01}, {'connected_gene': 'GC01P182625', 'score': 0.39}]
chr1 GH01I182142 182142723 182150571 1.77 [{'connected_gene': 'GLUL', 'score': 18.3}, {'connected_gene': 'TEDDM1', 'score': 12.01}, {'connected_gene': 'RPL18P2', 'score': 9.89}, {'connected_gene': 'RNU6-152P', 'score': 9.89}, {'connected_gene': 'RGS16', 'score': 9.67}, {'connected_gene': 'RGSL1', 'score': 9.59}, {'connected_gene': 'RNASEL', 'score': 6.0}, {'connected_gene': 'ENSG00000232309', 'score': 0.37}, {'connected_gene': 'GC01M182183', 'score': 0.28}, {'connected_gene': 'LINC01344', 'score': 0.1}]
chr1 GH01I182713 182713787 182713873 0.44 [{'connected_gene': 'LINC01688', 'score': 550.77}, {'connected_gene': 'RGS8', 'score': 11.36}, {'connected_gene': 'RGS16', 'score': 10.93}, {'connected_gene': 'DHX9', 'score': 1.39}, {'connected_gene': 'LOC100421471', 'score': 0.37}]
chr1 GH01I182643 182643826 182643955 0.38 [{'connected_gene': 'GC01M182641', 'score': 550.77}, {'connected_gene': 'RGS16', 'score': 10.98}, {'connected_gene': 'RGS8', 'score': 10.72}, {'connected_gene': 'GC01P182625', 'score': 0.37}, {'connected_gene': 'LINC01688', 'score': 0.2}]
chr1 GH01I182601 182600266 182600415 0.2 [{'connected_gene': 'GC01M182527', 'score': 0.77}, {'connected_gene': 'RGS16', 'score': 0.77}]

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