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
ENST00000538666 [[68642021, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647274], [68647362, 68647387]] [[68642578, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647228]]
ENST00000328087 [[68642024, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647281]] [[68642578, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647228]]
NM_020525 [[68642024, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647281]] [[68642578, 68642656], [68645292, 68645358], [68646283, 68646427], [68646543, 68646609], [68647042, 68647228]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I068404 68404672 68407423 1.29 [{'connected_gene': 'NUP107', 'score': 20.88}, {'connected_gene': 'CPSF6', 'score': 14.37}, {'connected_gene': 'KRT8P39', 'score': 11.12}, {'connected_gene': 'MDM2', 'score': 4.06}, {'connected_gene': 'MDM1', 'score': 3.96}, {'connected_gene': 'IL22', 'score': 3.18}, {'connected_gene': 'SLC35E3', 'score': 1.9}, {'connected_gene': 'RAP1B', 'score': 1.8}, {'connected_gene': 'GC12P068422', 'score': 0.37}, {'connected_gene': 'LINC02384', 'score': 0.25}, {'connected_gene': 'ENSG00000256273', 'score': 0.21}]
chr12 GH12I068312 68312070 68312369 0.22 [{'connected_gene': 'MDM1', 'score': 16.85}, {'connected_gene': 'NUP107', 'score': 14.25}, {'connected_gene': 'MDM2', 'score': 13.95}, {'connected_gene': 'IL22', 'score': 12.6}, {'connected_gene': 'IL26', 'score': 11.71}, {'connected_gene': 'LINC02384', 'score': 10.89}, {'connected_gene': 'RPL7P42', 'score': 10.09}, {'connected_gene': 'LOC100507250', 'score': 10.09}, {'connected_gene': 'LOC100130075', 'score': 9.51}, {'connected_gene': 'SLC35E3', 'score': 3.32}, {'connected_gene': 'GC12M068294', 'score': 0.39}, {'connected_gene': 'LOC105369818', 'score': 0.14}]
chr12 GH12I068245 68245332 68246409 0.85 [{'connected_gene': 'MDM1', 'score': 14.99}, {'connected_gene': 'IL26', 'score': 12.04}, {'connected_gene': 'LINC02384', 'score': 10.45}, {'connected_gene': 'IL22', 'score': 0.44}, {'connected_gene': 'LOC105369818', 'score': 0.25}]
chr12 GH12I068258 68258671 68260465 0.58 [{'connected_gene': 'MDM1', 'score': 16.5}, {'connected_gene': 'IL26', 'score': 11.62}, {'connected_gene': 'LINC02384', 'score': 10.14}, {'connected_gene': 'IL22', 'score': 0.44}, {'connected_gene': 'LOC105369818', 'score': 0.21}, {'connected_gene': 'GC12M068294', 'score': 0.21}]
chr12 GH12I068223 68223001 68223750 1.29 [{'connected_gene': 'MDM1', 'score': 29.67}, {'connected_gene': 'IL22', 'score': 12.73}, {'connected_gene': 'LINC02384', 'score': 10.96}, {'connected_gene': 'NUP107', 'score': 8.66}, {'connected_gene': 'LINC02421', 'score': 6.91}, {'connected_gene': 'IL26', 'score': 0.77}, {'connected_gene': 'GC12P068213', 'score': 0.39}, {'connected_gene': 'LOC105369818', 'score': 0.34}, {'connected_gene': 'IFNG-AS1', 'score': 0.07}]
chr12 GH12I068356 68356404 68356641 0.79 [{'connected_gene': 'MDM1', 'score': 12.45}, {'connected_gene': 'LINC02384', 'score': 12.27}, {'connected_gene': 'NUP107', 'score': 10.69}, {'connected_gene': 'LOC100507250', 'score': 10.69}, {'connected_gene': 'RPL7P42', 'score': 10.69}, {'connected_gene': 'SNORA70G', 'score': 10.4}, {'connected_gene': 'RPL10P12', 'score': 10.4}, {'connected_gene': 'RAP1B', 'score': 5.15}, {'connected_gene': 'IL22', 'score': 1.6}, {'connected_gene': 'ENSG00000256273', 'score': 0.39}, {'connected_gene': 'GC12P068422', 'score': 0.2}]
chr12 GH12I068236 68236175 68238019 0.89 [{'connected_gene': 'MDM1', 'score': 16.96}, {'connected_gene': 'LINC02384', 'score': 10.52}, {'connected_gene': 'MDM2', 'score': 6.17}, {'connected_gene': 'IL26', 'score': 5.3}, {'connected_gene': 'IL22', 'score': 0.37}, {'connected_gene': 'LOC105369818', 'score': 0.28}]
chr12 GH12I068239 68239516 68241791 1.08 [{'connected_gene': 'MDM1', 'score': 10.6}, {'connected_gene': 'LINC02384', 'score': 10.52}, {'connected_gene': 'LINC02421', 'score': 8.8}, {'connected_gene': 'MDM2', 'score': 7.65}, {'connected_gene': 'IL26', 'score': 0.39}, {'connected_gene': 'IL22', 'score': 0.39}, {'connected_gene': 'LOC105369818', 'score': 0.26}]
chr12 GH12I068317 68317244 68318501 0.57 [{'connected_gene': 'IL26', 'score': 11.92}, {'connected_gene': 'NUP107', 'score': 10.14}, {'connected_gene': 'LOC100507250', 'score': 10.14}, {'connected_gene': 'RPL7P42', 'score': 10.14}, {'connected_gene': 'SNORA70G', 'score': 9.35}, {'connected_gene': 'RPL10P12', 'score': 9.35}, {'connected_gene': 'LINC02421', 'score': 4.42}, {'connected_gene': 'GC12M068294', 'score': 0.77}, {'connected_gene': 'MDM1', 'score': 0.39}, {'connected_gene': 'IL22', 'score': 0.21}]
chr12 GH12I068266 68266705 68268552 0.72 [{'connected_gene': 'IL26', 'score': 8.57}, {'connected_gene': 'MDM1', 'score': 7.45}, {'connected_gene': 'IL22', 'score': 2.4}, {'connected_gene': 'GC12M068294', 'score': 0.23}, {'connected_gene': 'LOC105369818', 'score': 0.2}]
chr12 GH12I068309 68309933 68311086 0.43 [{'connected_gene': 'IL26', 'score': 11.4}, {'connected_gene': 'MDM1', 'score': 11.03}, {'connected_gene': 'LINC02384', 'score': 10.8}, {'connected_gene': 'IL22', 'score': 10.8}, {'connected_gene': 'MDM2', 'score': 9.51}, {'connected_gene': 'LOC100130075', 'score': 9.51}, {'connected_gene': 'GC12M068294', 'score': 0.39}, {'connected_gene': 'LOC105369818', 'score': 0.14}]
chr12 GH12I068290 68290261 68290470 0.78 [{'connected_gene': 'IL26', 'score': 11.14}, {'connected_gene': 'MDM1', 'score': 10.62}, {'connected_gene': 'LINC02384', 'score': 10.46}, {'connected_gene': 'GC12M068294', 'score': 0.29}, {'connected_gene': 'IL22', 'score': 0.28}, {'connected_gene': 'LOC105369818', 'score': 0.16}]
chr12 GH12I068291 68291441 68291590 0.38 [{'connected_gene': 'IL26', 'score': 11.13}, {'connected_gene': 'MDM1', 'score': 10.62}, {'connected_gene': 'LINC02384', 'score': 10.46}, {'connected_gene': 'GC12M068294', 'score': 0.29}, {'connected_gene': 'IL22', 'score': 0.28}, {'connected_gene': 'LOC105369818', 'score': 0.16}]
chr12 GH12I068225 68225862 68225921 0.61 [{'connected_gene': 'IL26', 'score': 550.77}, {'connected_gene': 'LOC105369818', 'score': 0.31}, {'connected_gene': 'IL22', 'score': 0.31}, {'connected_gene': 'IFNG-AS1', 'score': 0.07}]
chr12 GH12I068311 68311291 68311579 0.33 [{'connected_gene': 'IL22', 'score': 13.45}, {'connected_gene': 'IL26', 'score': 11.39}, {'connected_gene': 'MDM1', 'score': 11.03}, {'connected_gene': 'LINC02384', 'score': 10.8}, {'connected_gene': 'MDM2', 'score': 9.51}, {'connected_gene': 'LOC100130075', 'score': 9.51}, {'connected_gene': 'GC12M068294', 'score': 0.39}, {'connected_gene': 'LOC105369818', 'score': 0.14}]
chr12 GH12I068277 68277901 68278050 0.72 [{'connected_gene': 'IL22', 'score': 11.73}, {'connected_gene': 'IL26', 'score': 10.9}, {'connected_gene': 'MDM1', 'score': 10.72}, {'connected_gene': 'LINC02384', 'score': 10.58}, {'connected_gene': 'GC12M068294', 'score': 0.26}, {'connected_gene': 'LOC105369818', 'score': 0.18}]
chr12 GH12I068532 68532037 68532416 0.51 [{'connected_gene': 'IL22', 'score': 3.35}, {'connected_gene': 'MDM2', 'score': 2.8}, {'connected_gene': 'MDM1', 'score': 2.72}, {'connected_gene': 'NUP107', 'score': 1.63}, {'connected_gene': 'GC12M068554', 'score': 0.34}, {'connected_gene': 'ENSG00000256917', 'score': 0.26}]
chr12 GH12I068264 68264639 68265763 0.43 [{'connected_gene': 'IL22', 'score': 0.39}, {'connected_gene': 'GC12M068294', 'score': 0.22}, {'connected_gene': 'LOC105369818', 'score': 0.2}]
chr12 GH12I068271 68271186 68271730 0.38 [{'connected_gene': 'IL22', 'score': 0.37}, {'connected_gene': 'GC12M068294', 'score': 0.23}, {'connected_gene': 'LOC105369818', 'score': 0.19}]
chr12 GH12I067826 67826081 67829235 1.33 [{'connected_gene': 'IL22', 'score': 1.71}, {'connected_gene': 'ENSG00000279505', 'score': 0.19}, {'connected_gene': 'LINC01479', 'score': 0.15}]
chr12 GH12I068396 68396626 68396917 0.24 [{'connected_gene': 'IL22', 'score': 3.96}, {'connected_gene': 'GC12P068422', 'score': 0.31}, {'connected_gene': 'LINC02384', 'score': 0.23}, {'connected_gene': 'ENSG00000256273', 'score': 0.23}]
chr12 GH12I067988 67988430 67993227 1.4 [{'connected_gene': 'IFNG-AS1', 'score': 567.46}, {'connected_gene': 'LINC01479', 'score': 10.47}, {'connected_gene': 'IFNG', 'score': 4.2}, {'connected_gene': 'IL22', 'score': 2.27}, {'connected_gene': 'DYRK2', 'score': 2.04}, {'connected_gene': 'GC12P067986', 'score': 0.77}, {'connected_gene': 'RPL39P28', 'score': 0.39}]
chr12 GH12I068319 68319875 68320745 0.8 [{'connected_gene': 'GC12M068294', 'score': 550.77}, {'connected_gene': 'IL26', 'score': 11.92}, {'connected_gene': 'RPL7P42', 'score': 10.14}, {'connected_gene': 'LOC100507250', 'score': 10.14}, {'connected_gene': 'NUP107', 'score': 10.14}, {'connected_gene': 'SNORA70G', 'score': 9.35}, {'connected_gene': 'RPL10P12', 'score': 9.35}, {'connected_gene': 'MDM1', 'score': 0.39}, {'connected_gene': 'IL22', 'score': 0.2}]
chr12 GH12I068421 68421769 68423030 0.42 [{'connected_gene': 'GC12P068422', 'score': 550.77}, {'connected_gene': 'LINC02384', 'score': 11.94}, {'connected_gene': 'MDM1', 'score': 11.78}, {'connected_gene': 'IL22', 'score': 1.59}, {'connected_gene': 'ENSG00000256273', 'score': 0.18}]