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
ENST00000346807 [[113816214, 113816320], [113816988, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113822325]] [[113817015, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820254]]
ENST00000393200 [[113816684, 113816818], [113816988, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113822325]] [[113817015, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820254]]
ENST00000437409 [[113816963, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820137]] [[113817015, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820137]]
ENST00000514072 [[113820096, 113820303], [113822491, 113822959]] [[113820096, 113820254]]
NM_173170 [[113816214, 113816320], [113816988, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113822321]] [[113817015, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820254]]
NM_012275 [[113816684, 113816818], [113816988, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113822321]] [[113817015, 113817044], [113818428, 113818514], [113819700, 113819828], [113820029, 113820254]]
Promoter
Chrom Start End Description
chr2 113816221 113816244 CAGE_peak_2_at_IL36RN_5end
chr2 113816771 113816777 CAGE_peak_1_at_IL36RN_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 GH02I113067 113067921 113067980 0.5 [{'connected_gene': 'IL1F10', 'score': 550.77}, {'connected_gene': 'IL36RN', 'score': 0.44}]
chr2 GH02I113132 113132580 113133584 0.2 [{'connected_gene': 'PAX8-AS1', 'score': 16.13}, {'connected_gene': 'RNU6-1180P', 'score': 11.82}, {'connected_gene': 'PSD4', 'score': 11.43}, {'connected_gene': 'IL1RN', 'score': 11.26}, {'connected_gene': 'IL36RN', 'score': 6.45}, {'connected_gene': 'GC02P113568', 'score': 0.39}, {'connected_gene': 'GC02P113379', 'score': 0.39}]
chr2 GH02I113096 113096987 113097107 0.24 [{'connected_gene': 'IL1RN', 'score': 35.51}, {'connected_gene': 'IL1B', 'score': 35.5}, {'connected_gene': 'IL1F10', 'score': 10.9}, {'connected_gene': 'IL36G', 'score': 10.84}, {'connected_gene': 'PSD4', 'score': 10.24}, {'connected_gene': 'PAX8-AS1', 'score': 10.12}, {'connected_gene': 'IL36B', 'score': 7.4}, {'connected_gene': 'IL1A', 'score': 6.74}, {'connected_gene': 'IL36RN', 'score': 1.73}, {'connected_gene': 'CBWD2', 'score': 1.24}, {'connected_gene': 'RNU6-1180P', 'score': 0.39}]
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 GH02I113081 113081452 113082103 0.64 [{'connected_gene': 'IL1RN', 'score': 57.37}, {'connected_gene': 'IL1B', 'score': 27.04}, {'connected_gene': 'IL36B', 'score': 21.27}, {'connected_gene': 'IL36G', 'score': 8.34}, {'connected_gene': 'PAX8-AS1', 'score': 6.02}, {'connected_gene': 'PSD4', 'score': 5.63}, {'connected_gene': 'IL1A', 'score': 4.37}, {'connected_gene': 'IL36RN', 'score': 1.64}, {'connected_gene': 'CBWD2', 'score': 1.62}, {'connected_gene': 'GC02P113428', 'score': 0.44}, {'connected_gene': 'IL1F10', 'score': 0.39}]
chr2 GH02I113374 113374853 113375353 0.48 [{'connected_gene': 'IL1RN', 'score': 37.56}, {'connected_gene': 'IL36B', 'score': 22.14}, {'connected_gene': 'PAX8', 'score': 11.7}, {'connected_gene': 'PAX8-AS1', 'score': 11.64}, {'connected_gene': 'PSD4', 'score': 11.55}, {'connected_gene': 'RNU6-1180P', 'score': 10.58}, {'connected_gene': 'FOXD4L1', 'score': 8.18}, {'connected_gene': 'IL36G', 'score': 6.5}, {'connected_gene': 'CBWD2', 'score': 2.16}, {'connected_gene': 'IL36RN', 'score': 1.15}, {'connected_gene': 'GC02P113489', 'score': 0.34}, {'connected_gene': 'IGKV1OR2-108', 'score': 0.29}, {'connected_gene': 'LOC101927400', 'score': 0.23}]
chr2 GH02I113386 113386736 113387422 0.49 [{'connected_gene': 'IL1RN', 'score': 48.42}, {'connected_gene': 'IL36B', 'score': 21.78}, {'connected_gene': 'PAX8-AS1', 'score': 11.96}, {'connected_gene': 'RNU6-1180P', 'score': 10.62}, {'connected_gene': 'FOXD4L1', 'score': 8.2}, {'connected_gene': 'IL36G', 'score': 8.01}, {'connected_gene': 'CBWD2', 'score': 2.58}, {'connected_gene': 'IL36RN', 'score': 1.3}, {'connected_gene': 'IGKV1OR2-108', 'score': 0.37}, {'connected_gene': 'GC02P113489', 'score': 0.29}, {'connected_gene': 'LOC101927400', 'score': 0.21}]
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 GH02I113126 113126705 113131800 1.84 [{'connected_gene': 'IL1RN', 'score': 550.31}, {'connected_gene': 'PSD4', 'score': 22.52}, {'connected_gene': 'PAX8-AS1', 'score': 18.52}, {'connected_gene': 'RNU6-1180P', 'score': 12.05}, {'connected_gene': 'PAX8', 'score': 10.39}, {'connected_gene': 'IL1F10', 'score': 9.89}, {'connected_gene': 'IL36RN', 'score': 6.12}, {'connected_gene': 'LINC01191', 'score': 5.34}, {'connected_gene': 'GC02P113568', 'score': 0.44}, {'connected_gene': 'GC02P113379', 'score': 0.44}]
chr2 GH02I112792 112792576 112796958 1.74 [{'connected_gene': 'IL1B', 'score': 58.89}, {'connected_gene': 'IL1RN', 'score': 30.46}, {'connected_gene': 'ANAPC1', 'score': 16.25}, {'connected_gene': 'IL1A', 'score': 15.77}, {'connected_gene': 'CKAP2L', 'score': 12.04}, {'connected_gene': 'CBWD2', 'score': 11.28}, {'connected_gene': 'RGPD8', 'score': 11.21}, {'connected_gene': 'IL36G', 'score': 11.02}, {'connected_gene': 'ZC3H6', 'score': 10.33}, {'connected_gene': 'TMEM87B', 'score': 10.08}, {'connected_gene': 'IL36B', 'score': 7.97}, {'connected_gene': 'FLJ42351', 'score': 4.25}, {'connected_gene': 'IL36RN', 'score': 1.22}, {'connected_gene': 'GC02M112788', 'score': 0.44}, {'connected_gene': 'GC02P113658', 'score': 0.23}]
chr2 GH02I112890 112890611 112892533 1.08 [{'connected_gene': 'IL1B', 'score': 61.56}, {'connected_gene': 'IL1RN', 'score': 28.13}, {'connected_gene': 'IL36G', 'score': 13.21}, {'connected_gene': 'IL1A', 'score': 11.69}, {'connected_gene': 'CKAP2L', 'score': 10.98}, {'connected_gene': 'RNU6-1180P', 'score': 9.8}, {'connected_gene': 'IL36B', 'score': 7.23}, {'connected_gene': 'IL36RN', 'score': 1.51}, {'connected_gene': 'TTL', 'score': 1.12}, {'connected_gene': 'PIR39579', 'score': 0.44}, {'connected_gene': 'LOC105373563', 'score': 0.37}]
chr2 GH02I112936 112936291 112936646 1.08 [{'connected_gene': 'IL1B', 'score': 38.83}, {'connected_gene': 'IL1RN', 'score': 38.2}, {'connected_gene': 'IL36G', 'score': 19.82}, {'connected_gene': 'IL36B', 'score': 19.18}, {'connected_gene': 'IL37', 'score': 16.35}, {'connected_gene': 'HMGN2P23', 'score': 11.71}, {'connected_gene': 'IL1A', 'score': 9.35}, {'connected_gene': 'CDK8P2', 'score': 7.04}, {'connected_gene': 'IL36RN', 'score': 1.27}, {'connected_gene': 'GC02P113651', 'score': 0.77}]
chr2 GH02I112811 112811142 112815468 1.57 [{'connected_gene': 'IL1B', 'score': 75.28}, {'connected_gene': 'IL1RN', 'score': 45.94}, {'connected_gene': 'IL1A', 'score': 26.2}, {'connected_gene': 'IL37', 'score': 15.25}, {'connected_gene': 'IL36B', 'score': 13.38}, {'connected_gene': 'IL36G', 'score': 11.83}, {'connected_gene': 'CKAP2L', 'score': 11.32}, {'connected_gene': 'IL36RN', 'score': 1.39}, {'connected_gene': 'GC02M112788', 'score': 0.34}]
chr2 GH02I112875 112875431 112882602 1.67 [{'connected_gene': 'IL1B', 'score': 68.41}, {'connected_gene': 'IL1RN', 'score': 47.15}, {'connected_gene': 'IL1A', 'score': 20.52}, {'connected_gene': 'IL36B', 'score': 17.05}, {'connected_gene': 'IL37', 'score': 11.88}, {'connected_gene': 'IL36G', 'score': 11.57}, {'connected_gene': 'CKAP2L', 'score': 11.22}, {'connected_gene': 'IL36RN', 'score': 1.41}, {'connected_gene': 'PIR40727', 'score': 0.77}, {'connected_gene': 'XIAPP3', 'score': 0.31}]
chr2 GH02I112799 112799097 112800040 1.43 [{'connected_gene': 'IL1B', 'score': 57.14}, {'connected_gene': 'IL1RN', 'score': 38.99}, {'connected_gene': 'CKAP2L', 'score': 11.24}, {'connected_gene': 'IL36B', 'score': 11.08}, {'connected_gene': 'IL1A', 'score': 9.6}, {'connected_gene': 'IL36G', 'score': 9.52}, {'connected_gene': 'FLJ42351', 'score': 4.24}, {'connected_gene': 'IL36RN', 'score': 1.26}, {'connected_gene': 'GC02M112788', 'score': 0.39}, {'connected_gene': 'GC02P113658', 'score': 0.22}]
chr2 GH02I112749 112749304 112750681 1.06 [{'connected_gene': 'IL1B', 'score': 12.22}, {'connected_gene': 'IL1A', 'score': 11.93}, {'connected_gene': 'IL37', 'score': 10.77}, {'connected_gene': 'IL36RN', 'score': 4.18}, {'connected_gene': 'GC02P113658', 'score': 0.44}, {'connected_gene': 'CKAP2L', 'score': 0.39}]
chr2 GH02I112786 112786509 112788103 1.17 [{'connected_gene': 'IL1A', 'score': 565.51}, {'connected_gene': 'GC02M112788', 'score': 550.77}, {'connected_gene': 'IL1B', 'score': 53.05}, {'connected_gene': 'IL1RN', 'score': 25.57}, {'connected_gene': 'CKAP2L', 'score': 11.67}, {'connected_gene': 'IL36G', 'score': 11.32}, {'connected_gene': 'IL36B', 'score': 4.96}, {'connected_gene': 'IL36RN', 'score': 1.25}, {'connected_gene': 'GC02P113658', 'score': 0.26}]
chr2 GH02I113054 113054098 113054464 0.28 [{'connected_gene': 'IL36B', 'score': 572.81}, {'connected_gene': 'IL1RN', 'score': 18.79}, {'connected_gene': 'IL1B', 'score': 15.77}, {'connected_gene': 'IL36G', 'score': 8.55}, {'connected_gene': 'IL1A', 'score': 3.04}, {'connected_gene': 'IL36RN', 'score': 2.5}]
chr2 GH02I113053 113052622 113053861 0.2 [{'connected_gene': 'IL36B', 'score': 581.17}, {'connected_gene': 'IL36RN', 'score': 7.91}, {'connected_gene': 'PSD4', 'score': 5.35}]
chr2 GH02I113056 113056137 113057699 0.31 [{'connected_gene': 'IL36RN', 'score': 550.77}, {'connected_gene': 'IL36B', 'score': 26.6}, {'connected_gene': 'WASH2P', 'score': 11.74}, {'connected_gene': 'ENSG00000270019', 'score': 10.71}, {'connected_gene': 'POLR1B', 'score': 9.79}]
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 GH02I113058 113058605 113058664 0.99 [{'connected_gene': 'IL36RN', 'score': 550.77}, {'connected_gene': 'IL36B', '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 GH02I113155 113155915 113159645 1.84 [{'connected_gene': 'PSD4', 'score': 550.77}, {'connected_gene': 'IL1RN', 'score': 17.37}, {'connected_gene': 'PAX8-AS1', 'score': 11.24}, {'connected_gene': 'RNU6-1180P', 'score': 10.46}, {'connected_gene': 'IL36RN', 'score': 5.04}, {'connected_gene': 'IL36B', 'score': 2.73}, {'connected_gene': 'IL1B', 'score': 2.65}, {'connected_gene': 'IL36G', 'score': 2.43}, {'connected_gene': 'ENSG00000234174', 'score': 0.37}]
chr2 GH02I113088 113088333 113088461 0.56 [{'connected_gene': 'RNU6-1180P', 'score': 550.77}, {'connected_gene': 'GC02P113428', 'score': 550.77}, {'connected_gene': 'IL1RN', 'score': 29.85}, {'connected_gene': 'IL1B', 'score': 17.42}, {'connected_gene': 'IL36B', 'score': 13.16}, {'connected_gene': 'IL36G', 'score': 6.24}, {'connected_gene': 'IL1A', 'score': 4.48}, {'connected_gene': 'CBWD2', 'score': 2.24}, {'connected_gene': 'IL36RN', 'score': 1.56}]
chr2 GH02I112788 112788140 112788600 0.83 [{'connected_gene': 'GC02M112788', 'score': 550.77}, {'connected_gene': 'IL1RN', 'score': 32.36}, {'connected_gene': 'IL1B', 'score': 31.79}, {'connected_gene': 'IL1A', 'score': 16.26}, {'connected_gene': 'CKAP2L', 'score': 11.67}, {'connected_gene': 'IL36B', 'score': 10.0}, {'connected_gene': 'IL36G', 'score': 8.67}, {'connected_gene': 'IL36RN', 'score': 1.27}, {'connected_gene': 'GC02P113658', 'score': 0.25}]
chr2 GH02I112884 112884685 112886008 1.38 [{'connected_gene': 'PIR39579', 'score': 550.77}, {'connected_gene': 'IL1B', 'score': 83.84}, {'connected_gene': 'IL1RN', 'score': 36.8}, {'connected_gene': 'IL1A', 'score': 29.75}, {'connected_gene': 'IL37', 'score': 16.32}, {'connected_gene': 'IL36G', 'score': 12.65}, {'connected_gene': 'CKAP2L', 'score': 10.78}, {'connected_gene': 'IL36B', 'score': 9.08}, {'connected_gene': 'IL36RN', 'score': 1.42}, {'connected_gene': 'PIR40727', 'score': 0.77}]