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
ENST00000259211 [[113763037, 113763458], [113763550, 113763664], [113764174, 113764314], [113765408, 113765621]] [[113763448, 113763458], [113763550, 113763664], [113764174, 113764314], [113765408, 113765621]]
NM_014440 [[113763037, 113763458], [113763550, 113763664], [113764174, 113764314], [113765408, 113765621]] [[113763448, 113763458], [113763550, 113763664], [113764174, 113764314], [113765408, 113765621]]
Promoter
Chrom Start End Description
chr2 113763031 113763038 CAGE_peak_1_at_IL36A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I113071 113071530 113073714 1.22 [{'connected_gene': 'IL1F10', 'score': 550.77}, {'connected_gene': 'IL36B', 'score': 26.19}, {'connected_gene': 'IL1RN', 'score': 16.52}, {'connected_gene': 'PSD4', 'score': 16.12}, {'connected_gene': 'IL36RN', 'score': 10.75}, {'connected_gene': 'IL36A', 'score': 10.68}, {'connected_gene': 'IL37', 'score': 8.99}, {'connected_gene': 'NDUFB4P6', 'score': 4.84}, {'connected_gene': 'CDK8P2', 'score': 4.43}, {'connected_gene': 'GC02P113428', 'score': 0.39}]
chr2 GH02I113013 113012984 113013173 0.97 [{'connected_gene': 'ZC3H8', 'score': 11.05}, {'connected_gene': 'RNU6-1180P', 'score': 10.48}, {'connected_gene': 'IL1F10', 'score': 9.89}, {'connected_gene': 'IL36A', 'score': 0.44}, {'connected_gene': 'IL36B', 'score': 0.28}]
chr2 GH02I113111 113111802 113112800 0.83 [{'connected_gene': 'PAX8-AS1', 'score': 15.7}, {'connected_gene': 'RNU6-1180P', 'score': 11.61}, {'connected_gene': 'IL1F10', 'score': 10.46}, {'connected_gene': 'IL36A', 'score': 9.85}, {'connected_gene': 'IL1RN', 'score': 7.18}, {'connected_gene': 'PSD4', 'score': 5.67}, {'connected_gene': 'IL36B', 'score': 4.34}, {'connected_gene': 'GC02P113568', 'score': 0.44}, {'connected_gene': 'GC02P113379', 'score': 0.44}]
chr2 GH02I112995 112995610 112997835 0.38 [{'connected_gene': 'LOC442042', 'score': 550.77}, {'connected_gene': 'IL36G', 'score': 10.99}, {'connected_gene': 'IL37', 'score': 9.52}, {'connected_gene': 'IL36B', 'score': 7.57}, {'connected_gene': 'PAX8-AS1', 'score': 5.34}, {'connected_gene': 'IL36A', 'score': 0.44}]
chr2 GH02I113099 113099058 113099813 0.2 [{'connected_gene': 'IL1RN', 'score': 550.77}, {'connected_gene': 'IL1F10', 'score': 10.88}, {'connected_gene': 'PSD4', 'score': 10.25}, {'connected_gene': 'PAX8-AS1', 'score': 10.12}, {'connected_gene': 'IL36A', 'score': 4.98}, {'connected_gene': 'GC02P113568', 'score': 0.34}, {'connected_gene': 'GC02P113379', 'score': 0.34}]
chr2 GH02I113038 113038304 113038555 0.27 [{'connected_gene': 'IL1RN', 'score': 26.12}, {'connected_gene': 'IL1B', 'score': 25.38}, {'connected_gene': 'IL36G', 'score': 12.26}, {'connected_gene': 'IL1F10', 'score': 11.46}, {'connected_gene': 'IL36A', 'score': 11.44}, {'connected_gene': 'RNU6-1180P', 'score': 11.0}, {'connected_gene': 'PSD4', 'score': 9.64}, {'connected_gene': 'IL36B', 'score': 4.92}, {'connected_gene': 'IL1A', 'score': 4.69}, {'connected_gene': 'CBWD2', 'score': 1.69}, {'connected_gene': 'IL36RN', 'score': 1.64}]
chr2 GH02I113076 113076975 113080628 1.54 [{'connected_gene': 'IL1RN', 'score': 71.82}, {'connected_gene': 'IL36B', 'score': 50.21}, {'connected_gene': 'IL1B', 'score': 30.2}, {'connected_gene': 'IL36A', 'score': 20.86}, {'connected_gene': 'IL36RN', 'score': 20.5}, {'connected_gene': 'PSD4', 'score': 18.08}, {'connected_gene': 'IL36G', 'score': 9.61}, {'connected_gene': 'IL37', 'score': 8.99}, {'connected_gene': 'PAX8-AS1', 'score': 4.62}, {'connected_gene': 'IL1A', 'score': 4.2}, {'connected_gene': 'CBWD2', 'score': 1.76}, {'connected_gene': 'GC02P113428', 'score': 0.44}, {'connected_gene': 'IL1F10', 'score': 0.39}]
chr2 GH02I113005 113005411 113005470 0.68 [{'connected_gene': 'IL36A', 'score': 550.77}, {'connected_gene': 'LOC442042', 'score': 0.44}]
chr2 GH02I113039 113039906 113040106 0.48 [{'connected_gene': 'IL36B', 'score': 36.2}, {'connected_gene': 'IL1RN', 'score': 21.34}, {'connected_gene': 'IL1B', 'score': 15.12}, {'connected_gene': 'IL1F10', 'score': 11.46}, {'connected_gene': 'IL36A', 'score': 11.44}, {'connected_gene': 'RNU6-1180P', 'score': 11.0}, {'connected_gene': 'PSD4', 'score': 9.64}, {'connected_gene': 'IL36G', 'score': 8.82}, {'connected_gene': 'IL1A', 'score': 3.06}, {'connected_gene': 'CBWD2', 'score': 2.05}]
chr2 GH02I113052 113052444 113052593 0.2 [{'connected_gene': 'IL36B', 'score': 550.77}, {'connected_gene': 'IL36A', 'score': 0.25}]
chr2 GH02I113060 113060498 113060645 0.25 [{'connected_gene': 'IL36RN', 'score': 552.02}, {'connected_gene': 'IL36B', 'score': 24.45}, {'connected_gene': 'IL1RN', 'score': 20.82}, {'connected_gene': 'IL1B', 'score': 14.82}, {'connected_gene': 'RNU6-1180P', 'score': 11.2}, {'connected_gene': 'IL36A', 'score': 10.75}, {'connected_gene': 'IL36G', 'score': 7.77}, {'connected_gene': 'IL1A', 'score': 6.66}, {'connected_gene': 'CBWD2', 'score': 1.56}, {'connected_gene': 'IL1F10', 'score': 0.44}]
chr2 GH02I113059 113059149 113059208 0.68 [{'connected_gene': 'IL36RN', 'score': 550.77}, {'connected_gene': 'RNU6-1180P', 'score': 11.2}, {'connected_gene': 'IL36A', 'score': 10.76}, {'connected_gene': 'IL1F10', 'score': 0.44}]
chr2 GH02I113012 113012784 113012933 0.94 [{'connected_gene': 'RNU6-1180P', 'score': 10.48}, {'connected_gene': 'IL1F10', 'score': 9.88}, {'connected_gene': 'IL36B', 'score': 7.15}, {'connected_gene': 'IL36A', 'score': 0.44}]