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
ENST00000593685 [[40315989, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40323906, 40324274]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000323039 [[40315989, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324841]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000348817 [[40315992, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324841]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000597639 [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000430012 [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324798]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000601696 [[40319041, 40319223], [40320519, 40320783]] None
ENST00000600611 [[40320521, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324240, 40324278]] [[40320521, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
ENST00000601972 [[40320845, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324792]] [[40320972, 40321203], [40321303, 40321423], [40322444, 40322507]]
NM_004714 [[40315986, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324873]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
NM_006484 [[40315986, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324873]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317591, 40317627], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
NM_006483 [[40315986, 40316726], [40316819, 40316926], [40317311, 40317507], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322608], [40324662, 40324873]] [[40316354, 40316726], [40316819, 40316926], [40317311, 40317507], [40317924, 40318065], [40318149, 40318296], [40318936, 40319223], [40320519, 40320667], [40321014, 40321203], [40321303, 40321423], [40322444, 40322507]]
Promoter
Chrom Start End Description
chr19 40324740 40324751 CAGE_peak_2_at_DYRK1B_5end
chr19 40324767 40324816 CAGE_peak_1_at_DYRK1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I040579 40579852 40580672 0.88 [{'connected_gene': 'DYRK1B', 'score': 7.62}, {'connected_gene': 'SHKBP1', 'score': 0.77}, {'connected_gene': 'LTBP4', 'score': 0.39}]
chr19 GH19I039831 39831662 39835238 2.28 [{'connected_gene': 'DYRK1B', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 89.99}, {'connected_gene': 'SNRPA', 'score': 64.15}, {'connected_gene': 'FBL', 'score': 48.15}, {'connected_gene': 'ZNF780B', 'score': 46.75}, {'connected_gene': 'AKT2', 'score': 42.62}, {'connected_gene': 'RN7SL566P', 'score': 39.79}, {'connected_gene': 'ZNF780A', 'score': 38.98}, {'connected_gene': 'COQ8B', 'score': 36.27}, {'connected_gene': 'PLEKHG2', 'score': 31.15}, {'connected_gene': 'ENSG00000269688', 'score': 22.51}, {'connected_gene': 'FBXO17', 'score': 19.9}, {'connected_gene': 'ITPKC', 'score': 18.81}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'EID2B', 'score': 13.58}, {'connected_gene': 'SERTAD3', 'score': 13.09}, {'connected_gene': 'SPTBN4', 'score': 12.83}, {'connected_gene': 'SUPT5H', 'score': 11.98}, {'connected_gene': 'PSMC4', 'score': 10.87}, {'connected_gene': 'ENSG00000268366', 'score': 10.79}, {'connected_gene': 'CYP2T1P', 'score': 10.51}, {'connected_gene': 'ZNF546', 'score': 10.39}, {'connected_gene': 'RPS16', 'score': 9.71}, {'connected_gene': 'MIR6719', 'score': 0.77}]
chr19 GH19I039841 39841059 39843399 1.21 [{'connected_gene': 'SNRPA', 'score': 13.63}, {'connected_gene': 'ENSG00000269843', 'score': 13.15}, {'connected_gene': 'HNRNPL', 'score': 12.12}, {'connected_gene': 'FBL', 'score': 11.69}, {'connected_gene': 'RPS16', 'score': 11.0}, {'connected_gene': 'ITPKC', 'score': 10.91}, {'connected_gene': 'DYRK1B', 'score': 0.44}]
chr19 GH19I039839 39839192 39840698 1.03 [{'connected_gene': 'FBL', 'score': 0.44}, {'connected_gene': 'DYRK1B', 'score': 0.44}]
chr19 GH19I039843 39843561 39847522 2.29 [{'connected_gene': 'FBL', 'score': 585.93}, {'connected_gene': 'HNRNPL', 'score': 65.55}, {'connected_gene': 'SNRPA', 'score': 61.35}, {'connected_gene': 'ENSG00000269843', 'score': 55.5}, {'connected_gene': 'ZNF780B', 'score': 36.82}, {'connected_gene': 'AKT2', 'score': 33.21}, {'connected_gene': 'SUPT5H', 'score': 29.4}, {'connected_gene': 'PSMC4', 'score': 28.47}, {'connected_gene': 'ITPKC', 'score': 28.05}, {'connected_gene': 'EID2B', 'score': 21.56}, {'connected_gene': 'PLEKHG2', 'score': 21.23}, {'connected_gene': 'RN7SL566P', 'score': 20.68}, {'connected_gene': 'ZNF546', 'score': 20.66}, {'connected_gene': 'ZNF780A', 'score': 19.77}, {'connected_gene': 'COQ8B', 'score': 19.22}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'SPTBN4', 'score': 12.83}, {'connected_gene': 'ENSG00000268366', 'score': 12.6}, {'connected_gene': 'PAF1', 'score': 11.63}, {'connected_gene': 'ERVK9-11', 'score': 11.59}, {'connected_gene': 'RPS16', 'score': 11.0}, {'connected_gene': 'SERTAD3', 'score': 10.95}, {'connected_gene': 'SAMD4B', 'score': 10.07}, {'connected_gene': 'CYP2F2P', 'score': 9.81}, {'connected_gene': 'MED29', 'score': 4.69}, {'connected_gene': 'DYRK1B', 'score': 0.39}]
chr19 GH19I039830 39830061 39830136 0.66 [{'connected_gene': 'MIR6719', 'score': 550.77}, {'connected_gene': 'DYRK1B', 'score': 0.77}]
chr19 GH19I039827 39827654 39829172 0.82 [{'connected_gene': 'MIR6719', 'score': 550.77}, {'connected_gene': 'GC19M039822', 'score': 0.44}, {'connected_gene': 'DYRK1B', 'score': 0.44}]
chr19 GH19I039823 39823580 39826252 1.38 [{'connected_gene': 'GC19M039822', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 51.55}, {'connected_gene': 'HNRNPL', 'score': 34.63}, {'connected_gene': 'SNRPA', 'score': 28.84}, {'connected_gene': 'FBL', 'score': 25.97}, {'connected_gene': 'AKT2', 'score': 20.55}, {'connected_gene': 'ITPKC', 'score': 19.82}, {'connected_gene': 'ZNF780A', 'score': 19.76}, {'connected_gene': 'PAK4', 'score': 14.3}, {'connected_gene': 'ENSG00000269688', 'score': 13.32}, {'connected_gene': 'RN7SL566P', 'score': 12.08}, {'connected_gene': 'SUPT5H', 'score': 11.99}, {'connected_gene': 'NUMBL', 'score': 11.92}, {'connected_gene': 'PLEKHG2', 'score': 11.13}, {'connected_gene': 'RPS16', 'score': 11.01}, {'connected_gene': 'COQ8B', 'score': 10.83}, {'connected_gene': 'ZNF546', 'score': 10.39}, {'connected_gene': 'EID2', 'score': 10.29}, {'connected_gene': 'MIR6719', 'score': 0.77}, {'connected_gene': 'DYRK1B', 'score': 0.44}]