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
ENST00000368100 [[159824105, 159824816], [159825672, 159825871], [159826313, 159826433], [159827534, 159827756], [159827879, 159828081], [159828523, 159828702], [159832262, 159832447]] [[159824542, 159824816], [159825672, 159825871], [159826313, 159826433], [159827534, 159827756], [159827879, 159828081], [159828523, 159828702], [159832262, 159832311]]
NM_001013661 [[159824105, 159824816], [159825672, 159825871], [159826313, 159826433], [159827534, 159827756], [159827879, 159828081], [159828523, 159828702], [159832262, 159832447]] [[159824542, 159824816], [159825672, 159825871], [159826313, 159826433], [159827534, 159827756], [159827879, 159828081], [159828523, 159828702], [159832262, 159832311]]
Promoter
Chrom Start End Description
chr1 159832438 159832449 CAGE_peak_1_at_VSIG8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I160108 160108791 160110022 1.24 [{'connected_gene': 'IGSF8', 'score': 6.2}, {'connected_gene': 'VSIG8', 'score': 4.31}, {'connected_gene': 'ATP1A2', 'score': 0.44}]
chr1 GH01I159908 159908211 159926755 2.87 [{'connected_gene': 'TAGLN2', 'score': 559.83}, {'connected_gene': 'GC01M159919', 'score': 550.77}, {'connected_gene': 'GC01M159886', 'score': 550.77}, {'connected_gene': 'LOC100287049', 'score': 34.57}, {'connected_gene': 'NCSTN', 'score': 32.37}, {'connected_gene': 'SLAMF8', 'score': 31.57}, {'connected_gene': 'RAD1P2', 'score': 30.68}, {'connected_gene': 'ENSG00000272668', 'score': 20.86}, {'connected_gene': 'SNHG28', 'score': 17.8}, {'connected_gene': 'VSIG8', 'score': 13.81}, {'connected_gene': 'DCAF8', 'score': 11.97}, {'connected_gene': 'COPA', 'score': 10.55}, {'connected_gene': 'ENSG00000256029', 'score': 9.99}, {'connected_gene': 'FCRL6', 'score': 7.6}, {'connected_gene': 'ENSG00000279430', 'score': 0.44}]
chr1 GH01I159936 159936201 159946713 2.66 [{'connected_gene': 'IGSF9', 'score': 559.99}, {'connected_gene': 'ATP1A4', 'score': 51.6}, {'connected_gene': 'KCNJ10', 'score': 12.41}, {'connected_gene': 'NHLH1', 'score': 6.2}, {'connected_gene': 'LINC01133', 'score': 6.08}, {'connected_gene': 'VSIG8', 'score': 5.95}, {'connected_gene': 'CFAP45', 'score': 4.42}, {'connected_gene': 'VANGL2', 'score': 2.07}, {'connected_gene': 'TAGLN2', 'score': 0.37}]
chr1 GH01I159907 159907071 159907220 0.2 [{'connected_gene': 'VSIG8', 'score': 18.15}, {'connected_gene': 'SNHG28', 'score': 11.03}, {'connected_gene': 'IGSF9', 'score': 11.03}, {'connected_gene': 'ENSG00000212161', 'score': 11.02}, {'connected_gene': 'FCRL6', 'score': 10.5}, {'connected_gene': 'DUSP23', 'score': 10.41}, {'connected_gene': 'PIGM', 'score': 9.49}, {'connected_gene': 'ENSG00000279430', 'score': 0.77}, {'connected_gene': 'GC01P159904', 'score': 0.77}, {'connected_gene': 'PIR60584', 'score': 0.77}, {'connected_gene': 'GC01M159886', 'score': 0.39}]
chr1 GH01I159879 159879981 159880782 1.18 [{'connected_gene': 'VSIG8', 'score': 6.81}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1 GH01I159862 159862647 159862706 0.5 [{'connected_gene': 'VSIG8', 'score': 550.77}, {'connected_gene': 'ENSG00000272668', 'score': 0.77}, {'connected_gene': 'ENSG00000256029', 'score': 0.39}]
chr1 GH01I159881 159881288 159882982 1.61 [{'connected_gene': 'RPSAP18', 'score': 36.6}, {'connected_gene': 'ENSG00000272668', 'score': 32.19}, {'connected_gene': 'SNHG28', 'score': 31.7}, {'connected_gene': 'LOC100287049', 'score': 22.64}, {'connected_gene': 'SLAMF8', 'score': 12.57}, {'connected_gene': 'PIGM', 'score': 12.13}, {'connected_gene': 'DCAF8', 'score': 11.34}, {'connected_gene': 'CADM3', 'score': 11.13}, {'connected_gene': 'CADM3-AS1', 'score': 10.32}, {'connected_gene': 'COPA', 'score': 9.98}, {'connected_gene': 'VSIG8', 'score': 6.77}, {'connected_gene': 'SLAMF9', 'score': 5.45}, {'connected_gene': 'TAGLN2', 'score': 2.04}, {'connected_gene': 'ENSG00000256029', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.37}, {'connected_gene': 'MIR4259', 'score': 0.37}]
chr1 GH01I159823 159823351 159823502 0.39 [{'connected_gene': 'FCRL6', 'score': 10.97}, {'connected_gene': 'ENSG00000212161', 'score': 10.66}, {'connected_gene': 'SNHG28', 'score': 10.56}, {'connected_gene': 'VSIG8', 'score': 10.55}, {'connected_gene': 'SLAMF8', 'score': 2.18}, {'connected_gene': 'LOC105371464', 'score': 0.37}]
chr1 GH01I159856 159856334 159857152 0.46 [{'connected_gene': 'SNHG28', 'score': 550.77}, {'connected_gene': 'ENSG00000272668', 'score': 76.95}, {'connected_gene': 'VSIG8', 'score': 0.44}]
chr1 GH01I159853 159853022 159855969 1.55 [{'connected_gene': 'SNHG28', 'score': 550.77}, {'connected_gene': 'ENSG00000272668', 'score': 44.25}, {'connected_gene': 'ENSG00000212161', 'score': 0.77}, {'connected_gene': 'GC01M159852', 'score': 0.77}, {'connected_gene': 'VSIG8', 'score': 0.44}]
chr1 GH01I159898 159898091 159899318 0.78 [{'connected_gene': 'CFAP45', 'score': 550.77}, {'connected_gene': 'MIR4259', 'score': 550.77}, {'connected_gene': 'ENSG00000272668', 'score': 6.71}, {'connected_gene': 'SNHG28', 'score': 5.02}, {'connected_gene': 'VSIG8', 'score': 4.72}, {'connected_gene': 'GC01M159886', 'score': 0.37}, {'connected_gene': 'ENSG00000256029', 'score': 0.31}]
chr1 GH01I159803 159803878 159805343 0.46 [{'connected_gene': 'LOC105371464', 'score': 550.77}, {'connected_gene': 'SLAMF8', 'score': 11.92}, {'connected_gene': 'ENSG00000212161', 'score': 10.86}, {'connected_gene': 'SNHG28', 'score': 10.73}, {'connected_gene': 'VSIG8', 'score': 10.72}, {'connected_gene': 'DUSP23', 'score': 10.7}, {'connected_gene': 'IGSF9', 'score': 10.23}, {'connected_gene': 'FCRL6', 'score': 0.77}]
chr1 GH01I159888 159888967 159891999 1.66 [{'connected_gene': 'ENSG00000272668', 'score': 34.46}, {'connected_gene': 'SLAMF8', 'score': 17.04}, {'connected_gene': 'SNHG28', 'score': 16.35}, {'connected_gene': 'FCRL6', 'score': 12.13}, {'connected_gene': 'VSIG8', 'score': 11.62}, {'connected_gene': 'ENSG00000212161', 'score': 11.59}, {'connected_gene': 'IGSF9', 'score': 10.93}, {'connected_gene': 'DUSP23', 'score': 10.84}, {'connected_gene': 'PIGM', 'score': 9.57}, {'connected_gene': 'SLAMF9', 'score': 5.85}, {'connected_gene': 'TAGLN2', 'score': 2.78}, {'connected_gene': 'COPA', 'score': 1.22}, {'connected_gene': 'MIR4259', 'score': 0.44}, {'connected_gene': 'CFAP45', 'score': 0.44}, {'connected_gene': 'ENSG00000256029', 'score': 0.37}, {'connected_gene': 'GC01M159886', 'score': 0.31}]
chr1 GH01I159817 159817241 159818095 0.85 [{'connected_gene': 'ENSG00000212161', 'score': 11.62}, {'connected_gene': 'SNHG28', 'score': 11.19}, {'connected_gene': 'VSIG8', 'score': 11.17}, {'connected_gene': 'SLAMF8', 'score': 0.44}, {'connected_gene': 'LOC105371464', 'score': 0.39}]
chr1 GH01I159859 159859638 159859993 0.42 [{'connected_gene': 'ENSG00000272668', 'score': 10.37}, {'connected_gene': 'OR10J5', 'score': 1.62}, {'connected_gene': 'KCNJ9', 'score': 1.32}, {'connected_gene': 'VSIG8', 'score': 0.77}, {'connected_gene': 'SNHG28', 'score': 0.77}, {'connected_gene': 'ENSG00000256029', 'score': 0.39}]