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
ENST00000373255 [[71812551, 71812756], [71835355, 71835586], [71849815, 71849922], [71851512, 71851710], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868963], [71871273, 71872036]] [[71835414, 71835586], [71849815, 71849922], [71851512, 71851710], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868963], [71871273, 71871439]]
ENST00000455786 [[71812635, 71812756], [71835355, 71835586], [71849815, 71849922], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868936]] [[71835414, 71835586], [71849815, 71849922], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868936]]
NM_018649 [[71812356, 71812756], [71835355, 71835586], [71849815, 71849922], [71851512, 71851710], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868963], [71871273, 71872040]] [[71835414, 71835586], [71849815, 71849922], [71851512, 71851710], [71853490, 71853601], [71855409, 71855509], [71859963, 71860053], [71868788, 71868963], [71871273, 71871439]]
Promoter
Chrom Start End Description
chr10 71812074 71812078 CAGE_peak_5_at_H2AFY2_5end
chr10 71812102 71812136 CAGE_peak_3_at_H2AFY2_5end
chr10 71812337 71812348 CAGE_peak_4_at_H2AFY2_5end
chr10 71812562 71812573 CAGE_peak_2_at_H2AFY2_5end
chr10 71812577 71812644 CAGE_peak_1_at_H2AFY2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I070089 70089949 70094003 1.06 [{'connected_gene': 'NPFFR1', 'score': 15.52}, {'connected_gene': 'TYSND1', 'score': 11.1}, {'connected_gene': 'CALM2P2', 'score': 11.06}, {'connected_gene': 'SAR1A', 'score': 11.05}, {'connected_gene': 'LRRC20', 'score': 4.93}, {'connected_gene': 'PIR45222', 'score': 0.44}, {'connected_gene': 'H2AFY2', 'score': 0.28}]
chr10 GH10I070009 70009317 70009644 0.27 [{'connected_gene': 'H2AFY2', 'score': 5.56}, {'connected_gene': 'SUPV3L1', 'score': 5.08}, {'connected_gene': 'LOC102723350', 'score': 0.39}, {'connected_gene': 'LOC105378347', 'score': 0.09}]
chr10 GH10I070081 70081066 70081466 0.55 [{'connected_gene': 'H2AFY2', 'score': 11.63}, {'connected_gene': 'TYSND1', 'score': 10.52}, {'connected_gene': 'CALM2P2', 'score': 10.49}, {'connected_gene': 'SAR1A', 'score': 10.48}, {'connected_gene': 'PIR45222', 'score': 0.37}]
chr10 GH10I069915 69915666 69915669 0.22 [{'connected_gene': 'H2AFY2', 'score': 5.78}, {'connected_gene': 'LOC105378347', 'score': 0.16}, {'connected_gene': 'LOC102723350', 'score': 0.15}, {'connected_gene': 'COL13A1', 'score': 0.14}]
chr10 GH10I069960 69960652 69961751 0.69 [{'connected_gene': 'H2AFY2', 'score': 10.23}, {'connected_gene': 'LOC102723350', 'score': 0.22}, {'connected_gene': 'LOC105378347', 'score': 0.11}, {'connected_gene': 'COL13A1', 'score': 0.1}]
chr10 GH10I069956 69956001 69956800 0.52 [{'connected_gene': 'H2AFY2', 'score': 20.21}, {'connected_gene': 'LOC102723350', 'score': 0.21}, {'connected_gene': 'LOC105378347', 'score': 0.12}, {'connected_gene': 'COL13A1', 'score': 0.1}]
chr10 GH10I070052 70052210 70054501 1.91 [{'connected_gene': 'H2AFY2', 'score': 557.2}, {'connected_gene': 'PIR45222', 'score': 0.26}]
chr10 GH10I070108 70108355 70108587 0.38 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.34}, {'connected_gene': 'H2AFY2', 'score': 0.22}]
chr10 GH10I070107 70107345 70107514 0.77 [{'connected_gene': 'TYSND1', 'score': 10.85}, {'connected_gene': 'CALM2P2', 'score': 10.8}, {'connected_gene': 'SAR1A', 'score': 10.78}, {'connected_gene': 'PIR50368', 'score': 0.44}, {'connected_gene': 'PIR45222', 'score': 0.39}, {'connected_gene': 'AIFM2', 'score': 0.31}, {'connected_gene': 'H2AFY2', 'score': 0.23}]
chr10 GH10I069898 69898065 69902548 1.36 [{'connected_gene': 'FAM241B', 'score': 9.81}, {'connected_gene': 'H2AFY2', 'score': 2.0}, {'connected_gene': 'LOC105378347', 'score': 0.18}, {'connected_gene': 'COL13A1', 'score': 0.15}, {'connected_gene': 'LOC102723350', 'score': 0.13}]