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
ENST00000368130 [[159032273, 159032508], [159033275, 159033464], [159035699, 159036119], [159038357, 159038491], [159043027, 159043309], [159046422, 159046691]] [[159032481, 159032508], [159033275, 159033464], [159035699, 159036119], [159038357, 159038491], [159043027, 159043289]]
ENST00000481829 [[159033321, 159033464], [159035699, 159035784], [159036001, 159036119], [159038357, 159038491], [159043027, 159043055]] None
ENST00000368129 [[159033368, 159033464], [159035699, 159036119], [159110220, 159110298]] [[159033368, 159033464], [159035699, 159036104]]
ENST00000411768 [[159036105, 159036119], [159038357, 159038491], [159043027, 159043309], [159092028, 159092167], [159093309, 159093371], [159102032, 159102146], [159116799, 159116886]] None
NM_004833 [[159032274, 159032508], [159033275, 159033464], [159035699, 159036119], [159038357, 159038491], [159043027, 159043309], [159046422, 159046647]] [[159032481, 159032508], [159033275, 159033464], [159035699, 159036119], [159038357, 159038491], [159043027, 159043289]]
Promoter
Chrom Start End Description
chr1 159046480 159046489 CAGE_peak_3_at_AIM2_5end
chr1 159046532 159046595 CAGE_peak_1_at_AIM2_5end
chr1 159046617 159046630 CAGE_peak_2_at_AIM2_5end
chr1 159116850 159116858 CAGE_peak_10_at_AIM2_5end
chr1 159116897 159116903 CAGE_peak_12_at_AIM2_5end
chr1 159116916 159116923 CAGE_peak_13_at_AIM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I159160 159160931 159162079 0.96 [{'connected_gene': 'AIM2', 'score': 5.03}, {'connected_gene': 'CADM3', 'score': 0.39}]
chr1 GH01I159031 159031940 159033928 0.2 [{'connected_gene': 'AIM2', 'score': 6.06}, {'connected_gene': 'ACKR1', 'score': 5.64}, {'connected_gene': 'GC01M159011', 'score': 0.37}, {'connected_gene': 'LOC105371461', 'score': 0.34}, {'connected_gene': 'IFI16', 'score': 0.29}]
chr1 GH01I159046 159046567 159049886 0.2 [{'connected_gene': 'AIM2', 'score': 8.21}, {'connected_gene': 'LOC105371461', 'score': 0.44}, {'connected_gene': 'GC01M159011', 'score': 0.29}, {'connected_gene': 'IFI16', 'score': 0.25}]
chr1 GH01I159050 159050196 159051735 0.2 [{'connected_gene': 'AIM2', 'score': 6.79}, {'connected_gene': 'LOC105371461', 'score': 0.44}, {'connected_gene': 'GC01M159011', 'score': 0.28}, {'connected_gene': 'IFI16', 'score': 0.23}]
chr1 GH01I159042 159042279 159045751 0.2 [{'connected_gene': 'AIM2', 'score': 8.71}, {'connected_gene': 'LOC105371461', 'score': 0.39}, {'connected_gene': 'GC01M159011', 'score': 0.31}, {'connected_gene': 'IFI16', 'score': 0.26}]
chr1 GH01I159078 159078740 159080523 0.52 [{'connected_gene': 'AIM2', 'score': 8.04}, {'connected_gene': 'RAD1P2', 'score': 0.77}, {'connected_gene': 'LOC105371461', 'score': 0.34}]
chr1 GH01I159075 159075705 159078434 1.89 [{'connected_gene': 'AIM2', 'score': 558.02}, {'connected_gene': 'RAD1P2', 'score': 0.77}, {'connected_gene': 'LOC105371461', 'score': 0.37}]
chr1 GH01I159094 159094691 159097127 0.2 [{'connected_gene': 'AIM2', 'score': 8.02}, {'connected_gene': 'RAD1P2', 'score': 0.39}, {'connected_gene': 'GC01M159143', 'score': 0.25}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.25}]
chr1 GH01I159054 159054014 159056205 0.63 [{'connected_gene': 'OR6K2', 'score': 9.1}, {'connected_gene': 'AIM2', 'score': 7.2}, {'connected_gene': 'LOC105371461', 'score': 0.77}, {'connected_gene': 'GC01M159011', 'score': 0.26}, {'connected_gene': 'IFI16', 'score': 0.22}]
chr1 GH01I159067 159067081 159070204 1.23 [{'connected_gene': 'OR6K2', 'score': 9.81}, {'connected_gene': 'AIM2', 'score': 6.42}, {'connected_gene': 'LOC105371461', 'score': 0.39}, {'connected_gene': 'RAD1P2', 'score': 0.39}]
chr1 GH01I159039 159039194 159041487 0.63 [{'connected_gene': 'OR6N2', 'score': 9.39}, {'connected_gene': 'AIM2', 'score': 7.27}, {'connected_gene': 'LOC105371461', 'score': 0.37}, {'connected_gene': 'GC01M159011', 'score': 0.31}, {'connected_gene': 'IFI16', 'score': 0.26}]
chr1 GH01I159211 159211201 159211600 0.67 [{'connected_gene': 'CADM3', 'score': 11.29}, {'connected_gene': 'AIM2', 'score': 11.08}, {'connected_gene': 'OR10J2P', 'score': 9.78}, {'connected_gene': 'FCER1A', 'score': 9.77}, {'connected_gene': 'OR10J3', 'score': 9.19}, {'connected_gene': 'DUSP23', 'score': 9.15}, {'connected_gene': 'ACKR1', 'score': 8.02}, {'connected_gene': 'CADM3-AS1', 'score': 0.77}, {'connected_gene': 'MPTX1', 'score': 0.2}]
chr1 GH01I159171 159171311 159171460 0.46 [{'connected_gene': 'CADM3', 'score': 550.77}, {'connected_gene': 'AIM2', 'score': 0.34}]
chr1 GH01I159174 159171491 159171640 0.93 [{'connected_gene': 'CADM3', 'score': 550.77}, {'connected_gene': 'AIM2', 'score': 0.34}]
chr1 GH01I159172 159172567 159173600 0.93 [{'connected_gene': 'CADM3', 'score': 556.75}, {'connected_gene': 'ACKR1', 'score': 17.61}, {'connected_gene': 'CADM3-AS1', 'score': 11.16}, {'connected_gene': 'AIM2', 'score': 11.15}, {'connected_gene': 'ENSG00000212161', 'score': 9.16}, {'connected_gene': 'OR10J3', 'score': 9.01}, {'connected_gene': 'OR6N1', 'score': 3.76}, {'connected_gene': 'OR6K3', 'score': 3.7}, {'connected_gene': 'FCER1A', 'score': 3.43}, {'connected_gene': 'OR6N2', 'score': 2.9}, {'connected_gene': 'OR10J5', 'score': 1.24}, {'connected_gene': 'RNA5SP60', 'score': 0.44}]
chr1 GH01I159084 159084401 159085290 0.79 [{'connected_gene': 'MNDA', 'score': 24.13}, {'connected_gene': 'AIM2', 'score': 8.13}, {'connected_gene': 'IFI16', 'score': 2.69}, {'connected_gene': 'RAD1P2', 'score': 0.77}, {'connected_gene': 'GC01M159143', 'score': 0.22}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.22}]
chr1 GH01I158998 158998771 159001259 1.73 [{'connected_gene': 'IFI16', 'score': 564.71}, {'connected_gene': 'AIM2', 'score': 1.45}, {'connected_gene': 'GC01M159011', 'score': 0.39}]
chr1 GH01I159004 159004768 159017376 2.67 [{'connected_gene': 'IFI16', 'score': 569.21}, {'connected_gene': 'OR6N2', 'score': 10.04}, {'connected_gene': 'CADM3-AS1', 'score': 9.97}, {'connected_gene': 'RAD1P2', 'score': 9.97}, {'connected_gene': 'ACKR1', 'score': 6.26}, {'connected_gene': 'AIM2', 'score': 2.44}, {'connected_gene': 'PYHIN1', 'score': 1.42}, {'connected_gene': 'GC01M159011', 'score': 0.77}]
chr1 GH01I159751 159751038 159754188 0.98 [{'connected_gene': 'CRP', 'score': 10.89}, {'connected_gene': 'FCRL6', 'score': 10.43}, {'connected_gene': 'DUSP23', 'score': 10.11}, {'connected_gene': 'ENSG00000212161', 'score': 9.86}, {'connected_gene': 'AIM2', 'score': 4.54}, {'connected_gene': 'RPL27P2', 'score': 0.44}]
chr1 GH01I159090 159089911 159093035 1.06 [{'connected_gene': 'RAD1P2', 'score': 12.11}, {'connected_gene': 'SLAMF8', 'score': 11.14}, {'connected_gene': 'SNHG28', 'score': 10.54}, {'connected_gene': 'AIM2', 'score': 6.36}, {'connected_gene': 'GC01M159143', 'score': 0.23}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.23}]
chr1 GH01I159072 159072111 159072260 0.8 [{'connected_gene': 'RAD1P2', 'score': 0.44}, {'connected_gene': 'LOC105371461', 'score': 0.39}, {'connected_gene': 'AIM2', 'score': 0.19}]
chr1 GH01I159087 159087908 159089194 1.02 [{'connected_gene': 'RAD1P2', 'score': 0.44}, {'connected_gene': 'GC01M159143', 'score': 0.23}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.23}, {'connected_gene': 'AIM2', 'score': 0.22}]
chr1 GH01I159103 159103165 159104344 0.2 [{'connected_gene': 'RAD1P2', 'score': 0.34}, {'connected_gene': 'GC01M159143', 'score': 0.28}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.28}, {'connected_gene': 'AIM2', 'score': 0.26}]
chr1 GH01I159089 159089331 159089480 0.72 [{'connected_gene': 'RAD1P2', 'score': 0.44}, {'connected_gene': 'GC01M159143', 'score': 0.23}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.23}, {'connected_gene': 'AIM2', 'score': 0.22}]
chr1 GH01I159118 159118398 159118580 0.22 [{'connected_gene': 'GC01M159143', 'score': 0.34}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.34}, {'connected_gene': 'AIM2', 'score': 0.31}, {'connected_gene': 'RAD1P2', 'score': 0.28}]
chr1 GH01I159113 159113689 159114462 0.2 [{'connected_gene': 'GC01M159143', 'score': 0.31}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.31}, {'connected_gene': 'AIM2', 'score': 0.29}, {'connected_gene': 'RAD1P2', 'score': 0.29}]
chr1 GH01I159141 159141577 159142400 0.84 [{'connected_gene': 'GC01M159143', 'score': 550.77}, {'connected_gene': 'TRR-TCT4-1', 'score': 550.77}, {'connected_gene': 'OR6K3', 'score': 18.3}, {'connected_gene': 'OR6N1', 'score': 15.86}, {'connected_gene': 'FCER1A', 'score': 14.8}, {'connected_gene': 'CADM3', 'score': 12.17}, {'connected_gene': 'ACKR1', 'score': 11.31}, {'connected_gene': 'CADM3-AS1', 'score': 11.3}, {'connected_gene': 'OR6N2', 'score': 10.15}, {'connected_gene': 'OR10J5', 'score': 7.95}, {'connected_gene': 'AIM2', 'score': 6.7}, {'connected_gene': 'OR10J1', 'score': 3.04}]