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
ENST00000367225 [[153325593, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365178]] [[153332708, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365153]]
ENST00000206262 [[153331856, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365178], [153452258, 153452384]] [[153332708, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365153]]
NM_012419 [[153332025, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365178], [153452258, 153452389]] [[153332708, 153332897], [153345396, 153345631], [153347588, 153347678], [153365034, 153365153]]
Promoter
Chrom Start End Description
chr6 153452356 153452433 CAGE_peak_1_at_RGS17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I153032 153032366 153032495 0.43 [{'connected_gene': 'MTRF1L', 'score': 12.63}, {'connected_gene': 'PIR48130', 'score': 0.44}, {'connected_gene': 'RGS17', 'score': 0.15}]
chr6 GH06I153101 153101541 153101800 0.29 [{'connected_gene': 'RGS17', 'score': 11.03}, {'connected_gene': 'MTRF1L', 'score': 1.99}, {'connected_gene': 'PIR48130', 'score': 0.18}]
chr6 GH06I153089 153089855 153093614 1.22 [{'connected_gene': 'RGS17', 'score': 17.95}, {'connected_gene': 'MTRF1L', 'score': 6.01}, {'connected_gene': 'PIR48130', 'score': 0.2}]
chr6 GH06I153036 153036963 153037021 0.26 [{'connected_gene': 'RGS17', 'score': 2.23}, {'connected_gene': 'SYNE1', 'score': 1.46}, {'connected_gene': 'PIR48130', 'score': 0.39}]
chr6 GH06I153166 153166153 153169666 0.85 [{'connected_gene': 'RGS17', 'score': 6.11}, {'connected_gene': 'RNA5SP224', 'score': 0.44}, {'connected_gene': 'ENSG00000213121', 'score': 0.21}]
chr6 GH06I153129 153129757 153132161 1.81 [{'connected_gene': 'RGS17', 'score': 550.77}, {'connected_gene': 'GC06P153131', 'score': 550.77}, {'connected_gene': 'PIR48130', 'score': 0.15}]
chr6 GH06I153099 153099601 153100000 0.31 [{'connected_gene': 'RGS17', 'score': 0.29}, {'connected_gene': 'PIR48130', 'score': 0.19}]
chr6 GH06I153059 153059399 153060495 0.31 [{'connected_gene': 'RGS17', 'score': 10.15}, {'connected_gene': 'PIR48130', 'score': 0.29}]
chr6 GH06I153074 153074001 153074400 0.2 [{'connected_gene': 'RGS17', 'score': 14.86}, {'connected_gene': 'PIR48130', 'score': 0.25}]
chr6 GH06I153084 153084446 153084595 0.31 [{'connected_gene': 'RGS17', 'score': 0.25}, {'connected_gene': 'PIR48130', 'score': 0.22}]
chr6 GH06I153117 153117999 153119509 0.93 [{'connected_gene': 'RGS17', 'score': 18.04}, {'connected_gene': 'PIR48130', 'score': 0.16}]
chr6 GH06I153110 153110945 153111443 0.2 [{'connected_gene': 'RGS17', 'score': 19.09}, {'connected_gene': 'PIR48130', 'score': 0.18}]
chr6 GH06I153786 153786786 153786895 0.68 [{'connected_gene': 'FBXO5', 'score': 54.85}, {'connected_gene': 'SCAF8', 'score': 54.06}, {'connected_gene': 'RGS17', 'score': 11.36}, {'connected_gene': 'RPL27AP6', 'score': 10.93}, {'connected_gene': 'RNU6-896P', 'score': 0.14}, {'connected_gene': 'GC06M153939', 'score': 0.1}]
chr6 GH06I153024 153024526 153024695 0.7 [{'connected_gene': 'PIR48130', 'score': 550.77}, {'connected_gene': 'VIP', 'score': 9.67}, {'connected_gene': 'MTRF1L', 'score': 0.34}, {'connected_gene': 'RGS17', 'score': 0.14}]
chr6 GH06I153038 153038041 153039170 0.2 [{'connected_gene': 'ENSG00000213121', 'score': 11.36}, {'connected_gene': 'PIR48130', 'score': 0.39}, {'connected_gene': 'RGS17', 'score': 0.16}]