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
ENST00000264257 [[102803432, 102803546], [102804315, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102856462]] [[102804327, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855701]]
ENST00000441515 [[102803465, 102803542], [102804315, 102804385], [102818015, 102818175], [102828562, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855798]] [[102803474, 102803542], [102804315, 102804385], [102818015, 102818175], [102828562, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855701]]
ENST00000481806 [[102803465, 102803546], [102804315, 102804385], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855798]] None
ENST00000421464 [[102803773, 102803802], [102804315, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818042]] [[102804327, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818042]]
ENST00000539491 [[102803773, 102803802], [102804315, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855701]] [[102804327, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855701]]
NM_003854 [[102803432, 102803546], [102804315, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855811]] [[102804327, 102804385], [102805535, 102805770], [102808384, 102808580], [102818015, 102818175], [102828559, 102828634], [102835412, 102835542], [102836340, 102836477], [102842357, 102842501], [102849422, 102849584], [102851356, 102851737], [102855651, 102855701]]
Promoter
Chrom Start End Description
chr2 102803477 102803511 CAGE_peak_1_at_IL1RL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I102301 102301968 102302303 1 [{'connected_gene': 'IL1RL1', 'score': 38.3}, {'connected_gene': 'IL18RAP', 'score': 10.46}, {'connected_gene': 'IL1RL2', 'score': 10.35}, {'connected_gene': 'GC02M102241', 'score': 0.26}, {'connected_gene': 'GC02P101903', 'score': 0.05}]
chr2 GH02I102158 102158443 102160023 1.02 [{'connected_gene': 'IL1RL2', 'score': 16.77}, {'connected_gene': 'ENSG00000226925', 'score': 11.9}, {'connected_gene': 'IL18RAP', 'score': 6.33}, {'connected_gene': 'IL1R1', 'score': 3.97}, {'connected_gene': 'MAP4K4', 'score': 2.64}, {'connected_gene': 'GC02M102141', 'score': 0.37}, {'connected_gene': 'PIR60869', 'score': 0.37}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102238 102238047 102242517 1.56 [{'connected_gene': 'IL1RL2', 'score': 20.32}, {'connected_gene': 'IL1R2', 'score': 13.99}, {'connected_gene': 'ENSG00000226925', 'score': 11.05}, {'connected_gene': 'ENSG00000234389', 'score': 7.41}, {'connected_gene': 'IL18R1', 'score': 5.59}, {'connected_gene': 'IL1R1', 'score': 3.88}, {'connected_gene': 'IL18RAP', 'score': 2.09}, {'connected_gene': 'GC02M102250', 'score': 0.44}, {'connected_gene': 'GC02M102241', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.05}]
chr2 GH02I102226 102226210 102229864 1.65 [{'connected_gene': 'IL1RL2', 'score': 17.06}, {'connected_gene': 'ENSG00000226925', 'score': 10.95}, {'connected_gene': 'IL1R2', 'score': 5.28}, {'connected_gene': 'IL1R1', 'score': 4.19}, {'connected_gene': 'IL18RAP', 'score': 3.11}, {'connected_gene': 'GC02M102250', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.05}]
chr2 GH02I102005 102005564 102005688 0.46 [{'connected_gene': 'IL1RL2', 'score': 10.68}, {'connected_gene': 'ENSG00000226925', 'score': 9.85}, {'connected_gene': 'IL1R2', 'score': 0.39}, {'connected_gene': 'IL1R1', 'score': 0.22}, {'connected_gene': 'GC02P101903', 'score': 0.15}]
chr2 GH02I102004 102004699 102004848 0.49 [{'connected_gene': 'IL1RL2', 'score': 10.68}, {'connected_gene': 'ENSG00000226925', 'score': 9.85}, {'connected_gene': 'IL1R2', 'score': 0.39}, {'connected_gene': 'IL1R1', 'score': 0.22}, {'connected_gene': 'GC02P101903', 'score': 0.15}]
chr2 GH02I102000 102000807 102002633 0.52 [{'connected_gene': 'IL1RL2', 'score': 10.68}, {'connected_gene': 'ENSG00000226925', 'score': 9.84}, {'connected_gene': 'IL1R2', 'score': 0.44}, {'connected_gene': 'IL1R1', 'score': 0.21}, {'connected_gene': 'GC02P101903', 'score': 0.15}]
chr2 GH02I102006 102006339 102006508 0.8 [{'connected_gene': 'IL1RL2', 'score': 10.69}, {'connected_gene': 'ENSG00000226925', 'score': 9.85}, {'connected_gene': 'IL1R2', 'score': 4.76}, {'connected_gene': 'IL1R1', 'score': 0.22}, {'connected_gene': 'GC02P101903', 'score': 0.15}]
chr2 GH02I102044 102044861 102047303 1.36 [{'connected_gene': 'IL1RL2', 'score': 10.42}, {'connected_gene': 'ENSG00000226925', 'score': 10.29}, {'connected_gene': 'IL1R2', 'score': 6.12}, {'connected_gene': 'IL1R1', 'score': 0.37}, {'connected_gene': 'GC02P101903', 'score': 0.11}]
chr2 GH02I102225 102225201 102225400 0.54 [{'connected_gene': 'IL1RL2', 'score': 11.75}, {'connected_gene': 'ENSG00000226925', 'score': 10.96}, {'connected_gene': 'GC02M102250', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.05}]
chr2 GH02I102186 102186939 102186998 0.68 [{'connected_gene': 'IL1RL2', 'score': 550.77}, {'connected_gene': 'GC02M102250', 'score': 0.21}, {'connected_gene': 'GC02P101903', 'score': 0.06}]
chr2 GH02I102209 102209518 102209846 0.51 [{'connected_gene': 'IL1RL2', 'score': 11.7}, {'connected_gene': 'GC02M102250', 'score': 0.26}, {'connected_gene': 'GC02P101903', 'score': 0.06}]
chr2 GH02I102206 102206821 102206910 0.62 [{'connected_gene': 'IL1RL2', 'score': 11.7}, {'connected_gene': 'GC02M102250', 'score': 0.26}, {'connected_gene': 'GC02P101903', 'score': 0.06}]
chr2 GH02I102187 102187400 102188001 0.99 [{'connected_gene': 'IL1RL2', 'score': 557.33}, {'connected_gene': 'ENSG00000234389', 'score': 4.3}, {'connected_gene': 'GC02M102250', 'score': 0.21}, {'connected_gene': 'GC02P101903', 'score': 0.06}]
chr2 GH02I102017 102017813 102017857 0.2 [{'connected_gene': 'IL1R2', 'score': 11.54}, {'connected_gene': 'IL1RL2', 'score': 11.1}, {'connected_gene': 'ENSG00000226925', 'score': 10.53}, {'connected_gene': 'IL1R1', 'score': 0.25}, {'connected_gene': 'GC02P101903', 'score': 0.14}]
chr2 GH02I102019 102018573 102018866 0.2 [{'connected_gene': 'IL1R2', 'score': 16.9}, {'connected_gene': 'IL1RL2', 'score': 11.1}, {'connected_gene': 'ENSG00000226925', 'score': 10.53}, {'connected_gene': 'IL1R1', 'score': 0.25}, {'connected_gene': 'GC02P101903', 'score': 0.13}]
chr2 GH02I102016 102016292 102017773 0.31 [{'connected_gene': 'IL1R2', 'score': 27.09}, {'connected_gene': 'IL1RL2', 'score': 11.1}, {'connected_gene': 'ENSG00000226925', 'score': 10.53}, {'connected_gene': 'IL1R1', 'score': 0.25}, {'connected_gene': 'GC02P101903', 'score': 0.14}]
chr2 GH02I102018 102018056 102018430 0.2 [{'connected_gene': 'IL1R2', 'score': 16.69}, {'connected_gene': 'IL1RL2', 'score': 11.1}, {'connected_gene': 'ENSG00000226925', 'score': 10.53}, {'connected_gene': 'IL1R1', 'score': 0.25}, {'connected_gene': 'GC02P101903', 'score': 0.13}]
chr2 GH02I102040 102040400 102042625 1.44 [{'connected_gene': 'IL1R2', 'score': 21.93}, {'connected_gene': 'IL1R1', 'score': 19.51}, {'connected_gene': 'IL18R1', 'score': 16.31}, {'connected_gene': 'RNF149', 'score': 11.77}, {'connected_gene': 'ENSG00000226925', 'score': 10.47}, {'connected_gene': 'IL1RL2', 'score': 10.42}, {'connected_gene': 'IL18RAP', 'score': 8.88}, {'connected_gene': 'TBC1D8', 'score': 4.64}, {'connected_gene': 'MAP4K4', 'score': 2.82}, {'connected_gene': 'GC02P101903', 'score': 0.12}]
chr2 GH02I102032 102032459 102035286 1.67 [{'connected_gene': 'IL1R2', 'score': 23.63}, {'connected_gene': 'IL1R1', 'score': 20.17}, {'connected_gene': 'IL1RL2', 'score': 12.08}, {'connected_gene': 'ENSG00000226925', 'score': 10.97}, {'connected_gene': 'IL18RAP', 'score': 6.5}, {'connected_gene': 'TBC1D8', 'score': 4.42}, {'connected_gene': 'MAP4K4', 'score': 3.1}, {'connected_gene': 'IL18R1', 'score': 2.21}, {'connected_gene': 'GC02P101903', 'score': 0.12}]
chr2 GH02I102663 102663295 102665274 1.33 [{'connected_gene': 'SLC9A2', 'score': 14.03}, {'connected_gene': 'IL1RL2', 'score': 3.79}, {'connected_gene': 'MFSD9', 'score': 0.19}, {'connected_gene': 'GC02P101903', 'score': 0.03}]
chr2 GH02I102139 102139883 102144859 2.06 [{'connected_gene': 'IL1R1', 'score': 557.88}, {'connected_gene': 'GC02M102141', 'score': 550.77}, {'connected_gene': 'PIR60869', 'score': 550.77}, {'connected_gene': 'ENSG00000226925', 'score': 11.22}, {'connected_gene': 'IL1RL2', 'score': 6.06}, {'connected_gene': 'IL18R1', 'score': 4.93}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102250 102250530 102251961 0.66 [{'connected_gene': 'FAM183DP', 'score': 550.77}, {'connected_gene': 'GC02M102250', 'score': 550.77}, {'connected_gene': 'ENSG00000234389', 'score': 15.62}, {'connected_gene': 'IL18RAP', 'score': 10.58}, {'connected_gene': 'IL1RL2', 'score': 4.51}, {'connected_gene': 'GC02M102241', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.05}]
chr2 GH02I102146 102146694 102149856 0.62 [{'connected_gene': 'ENSG00000226925', 'score': 11.23}, {'connected_gene': 'IL1RL2', 'score': 7.44}, {'connected_gene': 'MFSD9', 'score': 7.22}, {'connected_gene': 'IL1R1', 'score': 6.41}, {'connected_gene': 'GC02M102141', 'score': 0.44}, {'connected_gene': 'PIR60869', 'score': 0.44}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102024 102024151 102028508 1.15 [{'connected_gene': 'ENSG00000226925', 'score': 10.98}, {'connected_gene': 'IL1RL2', 'score': 10.73}, {'connected_gene': 'SLC9A2', 'score': 9.17}, {'connected_gene': 'IL1R2', 'score': 8.2}, {'connected_gene': 'IL1R1', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.13}]
chr2 GH02I102154 102154234 102156936 1.34 [{'connected_gene': 'ENSG00000226925', 'score': 11.88}, {'connected_gene': 'IL1RL2', 'score': 11.36}, {'connected_gene': 'IL1R1', 'score': 6.35}, {'connected_gene': 'MFSD9', 'score': 6.14}, {'connected_gene': 'IL18R1', 'score': 5.93}, {'connected_gene': 'IL1RL1', 'score': 5.23}, {'connected_gene': 'GC02M102141', 'score': 0.39}, {'connected_gene': 'PIR60869', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.07}]
chr2 GH02I102030 102030682 102031400 1.11 [{'connected_gene': 'ENSG00000226925', 'score': 10.69}, {'connected_gene': 'IL1RL2', 'score': 10.42}, {'connected_gene': 'TBC1D8', 'score': 5.11}, {'connected_gene': 'IL1R1', 'score': 0.29}, {'connected_gene': 'IL1R2', 'score': 0.28}, {'connected_gene': 'GC02P101903', 'score': 0.13}]
chr2 GH02I102116 102116400 102118607 0.86 [{'connected_gene': 'ENSG00000226925', 'score': 10.43}, {'connected_gene': 'IL1R1', 'score': 7.75}, {'connected_gene': 'IL1RL2', 'score': 6.42}, {'connected_gene': 'GC02M102141', 'score': 0.34}, {'connected_gene': 'PIR60869', 'score': 0.34}, {'connected_gene': 'GC02P101903', 'score': 0.08}]
chr2 GH02I102126 102126461 102129557 1.14 [{'connected_gene': 'ENSG00000226925', 'score': 10.68}, {'connected_gene': 'IL1R1', 'score': 10.59}, {'connected_gene': 'MFSD9', 'score': 7.37}, {'connected_gene': 'IL1RL2', 'score': 3.44}, {'connected_gene': 'MAP4K4', 'score': 3.35}, {'connected_gene': 'GC02M102141', 'score': 0.39}, {'connected_gene': 'PIR60869', 'score': 0.39}, {'connected_gene': 'GC02P101903', 'score': 0.07}]