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
ENST00000375011 [[101569980, 101570351], [101585537, 101585707], [101589033, 101589223], [101594053, 101594239], [101597530, 101597648], [101599253, 101599430], [101602283, 101602415], [101606377, 101606491], [101608258, 101608405], [101611233, 101612363]] [[101569980, 101570351], [101585537, 101585707], [101589033, 101589223], [101594053, 101594239], [101597530, 101597648], [101599253, 101599430], [101602283, 101602415], [101606377, 101606491], [101608258, 101608405], [101611233, 101611374]]
ENST00000470473 [[101611053, 101611142], [101611233, 101611916]] None
NM_024642 [[101569980, 101570351], [101585537, 101585707], [101589033, 101589223], [101594053, 101594239], [101597530, 101597648], [101599253, 101599430], [101602283, 101602415], [101606377, 101606491], [101608258, 101608405], [101611233, 101612363]] [[101569980, 101570351], [101585537, 101585707], [101589033, 101589223], [101594053, 101594239], [101597530, 101597648], [101599253, 101599430], [101602283, 101602415], [101606377, 101606491], [101608258, 101608405], [101611233, 101611374]]
Promoter
Chrom Start End Description
chr9 101569914 101569942 CAGE_peak_2_at_GALNT12_5end
chr9 101569944 101569973 CAGE_peak_1_at_GALNT12_5end
chr9 101611053 101611084 CAGE_peak_5_at_GALNT12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I098750 98750201 98750800 0.2 [{'connected_gene': 'GALNT12', 'score': 10.5}, {'connected_gene': 'ANKS6', 'score': 6.32}, {'connected_gene': 'GABBR2', 'score': 0.26}]
chr9 GH09I098806 98806635 98811689 2.4 [{'connected_gene': 'GALNT12', 'score': 552.8}, {'connected_gene': 'ANKS6', 'score': 14.64}, {'connected_gene': 'GC09P098862', 'score': 0.23}]
chr9 GH09I098805 98805416 98806289 0.77 [{'connected_gene': 'GALNT12', 'score': 550.77}, {'connected_gene': 'ANKS6', 'score': 11.89}]
chr9 GH09I098848 98848069 98849304 1.35 [{'connected_gene': 'GALNT12', 'score': 10.85}, {'connected_gene': 'COL15A1', 'score': 10.79}, {'connected_gene': 'GC09P098862', 'score': 0.39}, {'connected_gene': 'LOC102724684', 'score': 0.31}]
chr9 GH09I098930 98929219 98929368 0.57 [{'connected_gene': 'GALNT12', 'score': 10.18}, {'connected_gene': 'COL15A1', 'score': 0.39}, {'connected_gene': 'LOC100288125', 'score': 0.28}]
chr9 GH09I098833 98833299 98833448 0.94 [{'connected_gene': 'GALNT12', 'score': 0.31}, {'connected_gene': 'GC09P098862', 'score': 0.31}]
chr9 GH09I098834 98834599 98834748 0.46 [{'connected_gene': 'GALNT12', 'score': 0.31}, {'connected_gene': 'GC09P098862', 'score': 0.31}]
chr9 GH09I099102 99102913 99108094 2.18 [{'connected_gene': 'TGFBR1', 'score': 559.61}, {'connected_gene': 'INVS', 'score': 10.07}, {'connected_gene': 'GALNT12', 'score': 4.66}, {'connected_gene': 'GC09M099146', 'score': 0.26}, {'connected_gene': 'RNA5SP290', 'score': 0.26}]
chr9 GH09I098878 98878466 98880994 0.63 [{'connected_gene': 'COL15A1', 'score': 18.49}, {'connected_gene': 'GALNT12', 'score': 10.32}, {'connected_gene': 'TRIM14', 'score': 4.24}, {'connected_gene': 'LOC102724684', 'score': 0.77}, {'connected_gene': 'LOC100288125', 'score': 0.39}]
chr9 GH09I098987 98987951 98990875 1.06 [{'connected_gene': 'COL15A1', 'score': 16.59}, {'connected_gene': 'GALNT12', 'score': 10.21}, {'connected_gene': 'ENSG00000270412', 'score': 4.37}, {'connected_gene': 'TGFBR1', 'score': 0.14}]
chr9 GH09I098905 98905727 98910418 1.15 [{'connected_gene': 'COL15A1', 'score': 18.3}, {'connected_gene': 'GALNT12', 'score': 10.26}, {'connected_gene': 'TRMO', 'score': 4.55}, {'connected_gene': 'LOC100288125', 'score': 0.37}]
chr9 GH09I098882 98882000 98882401 0.4 [{'connected_gene': 'COL15A1', 'score': 10.94}, {'connected_gene': 'GALNT12', 'score': 10.32}, {'connected_gene': 'LOC102724684', 'score': 0.77}, {'connected_gene': 'LOC100288125', 'score': 0.44}]
chr9 GH09I098923 98923239 98926728 0.69 [{'connected_gene': 'COL15A1', 'score': 21.41}, {'connected_gene': 'GALNT12', 'score': 10.18}, {'connected_gene': 'LOC100288125', 'score': 0.29}]
chr9 GH09I098916 98916385 98918404 1.16 [{'connected_gene': 'COL15A1', 'score': 11.81}, {'connected_gene': 'GALNT12', 'score': 10.0}, {'connected_gene': 'LOC100288125', 'score': 0.31}]
chr9 GH09I098904 98904079 98904228 0.52 [{'connected_gene': 'COL15A1', 'score': 11.38}, {'connected_gene': 'GALNT12', 'score': 10.27}, {'connected_gene': 'LOC100288125', 'score': 0.39}]
chr9 GH09I098899 98899533 98899796 0.51 [{'connected_gene': 'COL15A1', 'score': 19.28}, {'connected_gene': 'GALNT12', 'score': 10.27}, {'connected_gene': 'LOC100288125', 'score': 0.44}]
chr9 GH09I098910 98910552 98911267 0.4 [{'connected_gene': 'COL15A1', 'score': 11.56}, {'connected_gene': 'GALNT12', 'score': 5.34}, {'connected_gene': 'LOC100288125', 'score': 0.34}]
chr9 GH09I098929 98929418 98931092 0.86 [{'connected_gene': 'COL15A1', 'score': 24.3}, {'connected_gene': 'GALNT12', 'score': 10.18}, {'connected_gene': 'LOC100288125', 'score': 0.28}]
chr9 GH09I098850 98850241 98852914 0.92 [{'connected_gene': 'COL15A1', 'score': 10.79}, {'connected_gene': 'GC09P098862', 'score': 0.39}, {'connected_gene': 'LOC102724684', 'score': 0.31}, {'connected_gene': 'GALNT12', 'score': 0.26}]
chr9 GH09I098876 98876940 98877979 0.4 [{'connected_gene': 'LOC102724684', 'score': 550.77}, {'connected_gene': 'COL15A1', 'score': 15.08}, {'connected_gene': 'GALNT12', 'score': 10.33}, {'connected_gene': 'TRIM14', 'score': 4.21}, {'connected_gene': 'LOC100288125', 'score': 0.39}]