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
ENST00000393593 [[185308866, 185310220], [185311856, 185311903], [185320068, 185320233], [185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350224], [185395532, 185395734]] [[185309911, 185310220], [185311856, 185311903], [185320068, 185320233], [185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350218]]
ENST00000505067 [[185310175, 185310220], [185311856, 185311903], [185320068, 185320233], [185328332, 185328437], [185329311, 185329429], [185339320, 185339367], [185339685, 185339744]] [[185310175, 185310220], [185311856, 185311903], [185320068, 185320233], [185328332, 185328437], [185329311, 185329429], [185339320, 185339367], [185339685, 185339744]]
ENST00000502750 [[185310193, 185310220], [185311856, 185311903], [185320068, 185320233], [185339685, 185339785]] [[185310193, 185310220], [185311856, 185311903], [185320068, 185320233], [185339685, 185339785]]
ENST00000507523 [[185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350224], [185395143, 185395203]] [[185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350218]]
ENST00000512020 [[185329312, 185329429], [185339320, 185339367], [185339658, 185339862], [185340622, 185340722], [185350131, 185350224], [185395532, 185395702]] None
ENST00000510814 [[185329358, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350224], [185395122, 185395202]] [[185329358, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350218]]
ENST00000506230 [[185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350224], [185395259, 185395340]] [[185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350218]]
ENST00000509274 [[185339328, 185339367], [185339685, 185339862], [185340622, 185340722], [185349827, 185349951], [185350131, 185350224], [185395143, 185395201]] [[185340681, 185340722], [185349827, 185349951], [185350131, 185350218]]
ENST00000504340 [[185369809, 185370204], [185395532, 185395702]] None
NM_002199 [[185308875, 185310220], [185311856, 185311903], [185320068, 185320233], [185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350224], [185395532, 185395726]] [[185309911, 185310220], [185311856, 185311903], [185320068, 185320233], [185329311, 185329429], [185339320, 185339367], [185339685, 185339862], [185340622, 185340722], [185350131, 185350218]]
Promoter
Chrom Start End Description
chr4 185395191 185395226 CAGE_peak_4_at_IRF2_5end
chr4 185395590 185395627 CAGE_peak_3_at_IRF2_5end
chr4 185395633 185395651 CAGE_peak_2_at_IRF2_5end
chr4 185395672 185395710 CAGE_peak_1_at_IRF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I184287 184287288 184289451 1.57 [{'connected_gene': 'CASP3', 'score': 14.51}, {'connected_gene': 'IRF2', 'score': 14.21}, {'connected_gene': 'ENSG00000251878', 'score': 11.16}, {'connected_gene': 'PRIMPOL', 'score': 10.29}, {'connected_gene': 'LINC02363', 'score': 9.68}, {'connected_gene': 'MYL12BP2', 'score': 6.1}, {'connected_gene': 'ENPP6', 'score': 5.62}, {'connected_gene': 'CENPU', 'score': 4.93}, {'connected_gene': 'LOC105377582', 'score': 0.44}, {'connected_gene': 'RN7SL28P', 'score': 0.44}]
chr4 GH04I184667 184667784 184670020 0.86 [{'connected_gene': 'CENPU', 'score': 15.02}, {'connected_gene': 'ACSL1', 'score': 10.4}, {'connected_gene': 'PRIMPOL', 'score': 8.95}, {'connected_gene': 'IRF2', 'score': 7.43}, {'connected_gene': 'GC04P184696', 'score': 0.31}]
chr4 GH04I184854 184854246 184856848 1.44 [{'connected_gene': 'MIR3945HG', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 19.22}, {'connected_gene': 'CENPU', 'score': 5.66}, {'connected_gene': 'IRF2', 'score': 4.27}, {'connected_gene': 'MIR3945', 'score': 0.77}]
chr4 GH04I184309 184309887 184312124 1.47 [{'connected_gene': 'LINC02363', 'score': 9.36}, {'connected_gene': 'CASP3', 'score': 1.83}, {'connected_gene': 'IRF2', 'score': 1.46}, {'connected_gene': 'GC04P184303', 'score': 0.44}]
chr4 GH04I184326 184326758 184333189 1.6 [{'connected_gene': 'LINC02363', 'score': 16.32}, {'connected_gene': 'MYL12BP2', 'score': 13.71}, {'connected_gene': 'ACSL1', 'score': 6.16}, {'connected_gene': 'IRF2', 'score': 2.95}, {'connected_gene': 'GC04P184303', 'score': 0.31}]
chr4 GH04I184342 184342058 184350884 1.74 [{'connected_gene': 'LINC02363', 'score': 21.98}, {'connected_gene': 'IRF2', 'score': 15.26}, {'connected_gene': 'ENSG00000251878', 'score': 11.29}, {'connected_gene': 'CASP3', 'score': 10.76}, {'connected_gene': 'PRIMPOL', 'score': 10.76}, {'connected_gene': 'CFAP97', 'score': 4.77}, {'connected_gene': 'ACSL1', 'score': 3.39}, {'connected_gene': 'GC04P184303', 'score': 0.26}]
chr4 GH04I184280 184280197 184284698 1.59 [{'connected_gene': 'MYL12BP2', 'score': 14.28}, {'connected_gene': 'ENSG00000251878', 'score': 11.38}, {'connected_gene': 'LINC02363', 'score': 10.01}, {'connected_gene': 'ENPP6', 'score': 4.87}, {'connected_gene': 'CENPU', 'score': 4.57}, {'connected_gene': 'CASP3', 'score': 1.61}, {'connected_gene': 'IRF2', 'score': 1.49}, {'connected_gene': 'RN7SL28P', 'score': 0.77}, {'connected_gene': 'LOC105377582', 'score': 0.39}]
chr4 GH04I184313 184313115 184316570 1.52 [{'connected_gene': 'MYL12BP2', 'score': 12.21}, {'connected_gene': 'IRF2', 'score': 11.37}, {'connected_gene': 'ENSG00000251878', 'score': 11.2}, {'connected_gene': 'LINC02363', 'score': 9.84}, {'connected_gene': 'ENPP6', 'score': 6.57}, {'connected_gene': 'CASP3', 'score': 1.29}, {'connected_gene': 'GC04P184303', 'score': 0.39}]
chr4 GH04I184334 184333499 184333669 0.46 [{'connected_gene': 'MYL12BP2', 'score': 13.41}, {'connected_gene': 'ACSL1', 'score': 3.6}, {'connected_gene': 'IRF2', 'score': 2.78}, {'connected_gene': 'CASP3', 'score': 1.23}, {'connected_gene': 'LINC02363', 'score': 0.34}, {'connected_gene': 'GC04P184303', 'score': 0.29}]
chr4 GH04I184318 184318759 184320034 1.26 [{'connected_gene': 'IRF2', 'score': 12.8}, {'connected_gene': 'ENSG00000251878', 'score': 10.84}, {'connected_gene': 'CASP3', 'score': 1.38}, {'connected_gene': 'GC04P184303', 'score': 0.37}, {'connected_gene': 'LINC02363', 'score': 0.29}]
chr4 GH04I184419 184419655 184422442 1.39 [{'connected_gene': 'IRF2', 'score': 13.59}, {'connected_gene': 'CASP3', 'score': 11.21}, {'connected_gene': 'PRIMPOL', 'score': 9.84}, {'connected_gene': 'ACSL1', 'score': 1.23}, {'connected_gene': 'GC04P184432', 'score': 0.39}, {'connected_gene': 'LINC02362', 'score': 0.28}]
chr4 GH04I183995 183995590 183995790 0.41 [{'connected_gene': 'IRF2', 'score': 2.72}, {'connected_gene': 'TRAPPC11', 'score': 1.61}, {'connected_gene': 'ENSG00000248206', 'score': 0.44}, {'connected_gene': 'ENSG00000283355', 'score': 0.37}, {'connected_gene': 'STOX2', 'score': 0.08}]
chr4 GH04I184470 184470627 184477334 2.53 [{'connected_gene': 'IRF2', 'score': 554.72}, {'connected_gene': 'ENSG00000271646', 'score': 550.77}, {'connected_gene': 'ENSG00000270426', 'score': 550.77}, {'connected_gene': 'TRAPPC11', 'score': 21.72}, {'connected_gene': 'PRIMPOL', 'score': 21.38}, {'connected_gene': 'CASP3', 'score': 11.75}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'ACSL1', 'score': 5.64}]
chr4 GH04I184265 184265302 184269283 1.66 [{'connected_gene': 'IRF2', 'score': 15.96}, {'connected_gene': 'MYL12BP2', 'score': 14.59}, {'connected_gene': 'CASP3', 'score': 12.99}, {'connected_gene': 'TRAPPC11', 'score': 12.95}, {'connected_gene': 'ENSG00000251878', 'score': 10.72}, {'connected_gene': 'PRIMPOL', 'score': 10.0}, {'connected_gene': 'LINC02363', 'score': 9.83}, {'connected_gene': 'LOC105377584', 'score': 0.77}, {'connected_gene': 'RN7SL28P', 'score': 0.39}, {'connected_gene': 'LOC105377582', 'score': 0.31}]
chr4 GH04I184416 184416177 184419357 1.41 [{'connected_gene': 'IRF2', 'score': 15.79}, {'connected_gene': 'PRIMPOL', 'score': 9.83}, {'connected_gene': 'CASP3', 'score': 9.83}, {'connected_gene': 'ACSL1', 'score': 4.19}, {'connected_gene': 'GC04P184432', 'score': 0.39}, {'connected_gene': 'LINC02362', 'score': 0.28}]
chr4 GH04I184414 184414963 184415697 0.2 [{'connected_gene': 'IRF2', 'score': 12.18}, {'connected_gene': 'PRIMPOL', 'score': 9.83}, {'connected_gene': 'CASP3', 'score': 9.83}, {'connected_gene': 'GC04P184432', 'score': 0.37}, {'connected_gene': 'LINC02362', 'score': 0.29}]
chr4 GH04I184506 184506277 184507563 0.6 [{'connected_gene': 'IRF2', 'score': 11.87}, {'connected_gene': 'ENSG00000251878', 'score': 10.54}, {'connected_gene': 'LINC02427', 'score': 4.77}, {'connected_gene': 'GC04M184536', 'score': 0.29}, {'connected_gene': 'ENSG00000271646', 'score': 0.29}]
chr4 GH04I184381 184381357 184388699 2.26 [{'connected_gene': 'IRF2', 'score': 14.69}, {'connected_gene': 'ENSG00000251878', 'score': 11.34}, {'connected_gene': 'LINC02362', 'score': 6.31}, {'connected_gene': 'RWDD4', 'score': 5.89}, {'connected_gene': 'ACSL1', 'score': 5.11}, {'connected_gene': 'GC04P184432', 'score': 0.25}]
chr4 GH04I184446 184446001 184446400 0.4 [{'connected_gene': 'IRF2', 'score': 12.68}, {'connected_gene': 'ENSG00000251878', 'score': 0.39}, {'connected_gene': 'GC04M184456', 'score': 0.39}]
chr4 GH04I184503 184503596 184504807 0.63 [{'connected_gene': 'IRF2', 'score': 11.89}, {'connected_gene': 'ENSG00000251878', 'score': 10.54}, {'connected_gene': 'ENSG00000271646', 'score': 0.31}, {'connected_gene': 'GC04M184536', 'score': 0.29}]
chr4 GH04I184444 184444484 184445599 0.97 [{'connected_gene': 'IRF2', 'score': 12.68}, {'connected_gene': 'ENSG00000251878', 'score': 0.39}, {'connected_gene': 'GC04M184456', 'score': 0.39}]
chr4 GH04I184447 184447254 184452400 1.32 [{'connected_gene': 'IRF2', 'score': 12.71}, {'connected_gene': 'GC04M184456', 'score': 0.44}, {'connected_gene': 'ENSG00000251878', 'score': 0.37}]
chr4 GH04I184439 184439728 184443199 1.14 [{'connected_gene': 'IRF2', 'score': 17.92}, {'connected_gene': 'ENSG00000251878', 'score': 0.44}, {'connected_gene': 'GC04M184456', 'score': 0.37}]
chr4 GH04I184398 184398905 184403630 1.48 [{'connected_gene': 'ACSL1', 'score': 7.81}, {'connected_gene': 'IRF2', 'score': 2.27}, {'connected_gene': 'CASP3', 'score': 1.4}, {'connected_gene': 'LINC02362', 'score': 0.37}, {'connected_gene': 'GC04P184432', 'score': 0.29}]
chr4 GH04I184859 184859801 184861600 1.22 [{'connected_gene': 'ACSL1', 'score': 11.57}, {'connected_gene': 'IRF2', 'score': 2.04}, {'connected_gene': 'MIR3945HG', 'score': 0.77}, {'connected_gene': 'LINC01093', 'score': 0.28}]
chr4 GH04I184833 184833490 184833754 0.48 [{'connected_gene': 'ACSL1', 'score': 22.43}, {'connected_gene': 'IRF2', 'score': 10.81}, {'connected_gene': 'LOC105377587', 'score': 0.44}, {'connected_gene': 'MIR3945', 'score': 0.37}]
chr4 GH04I184374 184374894 184375292 0.99 [{'connected_gene': 'ACSL1', 'score': 3.58}, {'connected_gene': 'IRF2', 'score': 1.48}, {'connected_gene': 'LINC02362', 'score': 0.44}, {'connected_gene': 'LINC02363', 'score': 0.34}]
chr4 GH04I184375 184375646 184376254 0.71 [{'connected_gene': 'ACSL1', 'score': 4.49}, {'connected_gene': 'IRF2', 'score': 1.64}, {'connected_gene': 'LINC02362', 'score': 0.44}, {'connected_gene': 'LINC02363', 'score': 0.34}]
chr4 GH04I184889 184889708 184890026 0.54 [{'connected_gene': 'ACSL1', 'score': 22.84}, {'connected_gene': 'IRF2', 'score': 1.14}, {'connected_gene': 'LINC01093', 'score': 0.44}, {'connected_gene': 'MIR3945HG', 'score': 0.29}]
chr4 GH04I184848 184848310 184849653 1.22 [{'connected_gene': 'ACSL1', 'score': 13.07}, {'connected_gene': 'IRF2', 'score': 2.94}, {'connected_gene': 'MIR3945', 'score': 0.77}, {'connected_gene': 'MIR3945HG', 'score': 0.44}]
chr4 GH04I184684 184684143 184685406 1.43 [{'connected_gene': 'PRIMPOL', 'score': 28.21}, {'connected_gene': 'CASP3', 'score': 14.76}, {'connected_gene': 'CENPU', 'score': 8.73}, {'connected_gene': 'IRF2', 'score': 4.21}, {'connected_gene': 'GC04P184696', 'score': 0.39}]
chr4 GH04I184644 184644792 184651047 2.22 [{'connected_gene': 'PRIMPOL', 'score': 558.42}, {'connected_gene': 'CASP3', 'score': 550.77}, {'connected_gene': 'CENPU', 'score': 25.16}, {'connected_gene': 'ACSL1', 'score': 10.63}, {'connected_gene': 'IRF2', 'score': 10.48}, {'connected_gene': 'LINC02365', 'score': 0.34}]
chr4 GH04I184563 184563238 184564058 0.2 [{'connected_gene': 'PRIMPOL', 'score': 10.66}, {'connected_gene': 'CASP3', 'score': 10.66}, {'connected_gene': 'IRF2', 'score': 5.2}, {'connected_gene': 'LOC100129245', 'score': 0.77}, {'connected_gene': 'PIR42069', 'score': 0.23}]
chr4 GH04I184424 184424359 184434532 0.82 [{'connected_gene': 'PRIMPOL', 'score': 9.8}, {'connected_gene': 'CASP3', 'score': 9.8}, {'connected_gene': 'LINC02362', 'score': 4.97}, {'connected_gene': 'GC04P184432', 'score': 0.77}, {'connected_gene': 'ENSG00000251878', 'score': 0.77}, {'connected_gene': 'IRF2', 'score': 0.25}]
chr4 GH04I184353 184353779 184358399 1.69 [{'connected_gene': 'PRIMPOL', 'score': 19.96}, {'connected_gene': 'LINC02363', 'score': 18.35}, {'connected_gene': 'IRF2', 'score': 17.54}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'CDKN2AIP', 'score': 10.6}, {'connected_gene': 'ENSG00000251878', 'score': 10.55}, {'connected_gene': 'CFAP97', 'score': 10.43}, {'connected_gene': 'ACSL1', 'score': 10.38}, {'connected_gene': 'ENSG00000248206', 'score': 4.95}, {'connected_gene': 'LINC02362', 'score': 0.31}]
chr4 GH04I184338 184338990 184340296 1.56 [{'connected_gene': 'PRIMPOL', 'score': 21.73}, {'connected_gene': 'CFAP97', 'score': 14.19}, {'connected_gene': 'IRF2', 'score': 13.88}, {'connected_gene': 'TRAPPC11', 'score': 13.47}, {'connected_gene': 'RNU6-1053P', 'score': 13.18}, {'connected_gene': 'CDKN2AIP', 'score': 12.16}, {'connected_gene': 'MYL12BP2', 'score': 7.85}, {'connected_gene': 'ACSL1', 'score': 1.53}, {'connected_gene': 'LINC02363', 'score': 0.39}, {'connected_gene': 'GC04P184303', 'score': 0.28}]
chr4 GH04I184292 184292802 184294045 1.22 [{'connected_gene': 'LOC105377582', 'score': 550.77}, {'connected_gene': 'IRF2', 'score': 13.49}, {'connected_gene': 'ENSG00000251878', 'score': 11.17}, {'connected_gene': 'MYL12BP2', 'score': 11.01}, {'connected_gene': 'PRIMPOL', 'score': 10.29}, {'connected_gene': 'CASP3', 'score': 10.29}, {'connected_gene': 'RN7SL28P', 'score': 0.39}]
chr4 GH04I184437 184437401 184439000 0.51 [{'connected_gene': 'LINC02362', 'score': 5.31}, {'connected_gene': 'ENSG00000251878', 'score': 0.44}, {'connected_gene': 'GC04M184456', 'score': 0.37}, {'connected_gene': 'IRF2', 'score': 0.28}]
chr4 GH04I184397 184397826 184398389 0.2 [{'connected_gene': 'LINC02362', 'score': 0.37}, {'connected_gene': 'GC04P184432', 'score': 0.29}, {'connected_gene': 'IRF2', 'score': 0.18}]
chr4 GH04I184405 184405175 184406347 0.2 [{'connected_gene': 'LINC02362', 'score': 0.34}, {'connected_gene': 'GC04P184432', 'score': 0.31}, {'connected_gene': 'IRF2', 'score': 0.2}]
chr4 GH04I183986 183986656 183990303 1.83 [{'connected_gene': 'ENSG00000248206', 'score': 550.77}, {'connected_gene': 'IRF2', 'score': 1.93}, {'connected_gene': 'TRAPPC11', 'score': 1.46}, {'connected_gene': 'ENSG00000283355', 'score': 0.31}, {'connected_gene': 'STOX2', 'score': 0.08}]
chr4 GH04I184392 184392001 184394000 0.51 [{'connected_gene': 'ENSG00000251878', 'score': 12.52}, {'connected_gene': 'IRF2', 'score': 11.57}, {'connected_gene': 'PRIMPOL', 'score': 10.02}, {'connected_gene': 'CASP3', 'score': 10.02}, {'connected_gene': 'LINC02362', 'score': 0.39}, {'connected_gene': 'GC04P184432', 'score': 0.28}]
chr4 GH04I184394 184394477 184397290 0.96 [{'connected_gene': 'ENSG00000251878', 'score': 12.52}, {'connected_gene': 'IRF2', 'score': 11.58}, {'connected_gene': 'PRIMPOL', 'score': 10.02}, {'connected_gene': 'CASP3', 'score': 10.02}, {'connected_gene': 'LINC02362', 'score': 0.39}, {'connected_gene': 'GC04P184432', 'score': 0.28}]
chr4 GH04I184464 184464828 184465469 0.85 [{'connected_gene': 'ENSG00000251878', 'score': 11.59}, {'connected_gene': 'IRF2', 'score': 0.44}, {'connected_gene': 'ENSG00000270426', 'score': 0.44}, {'connected_gene': 'GC04M184456', 'score': 0.44}]
chr4 GH04I184453 184453007 184455104 0.97 [{'connected_gene': 'ENSG00000251878', 'score': 12.28}, {'connected_gene': 'GC04M184456', 'score': 0.77}, {'connected_gene': 'IRF2', 'score': 0.34}]
chr4 GH04I184461 184461601 184462400 0.4 [{'connected_gene': 'ENSG00000251878', 'score': 11.59}, {'connected_gene': 'GC04M184456', 'score': 0.44}, {'connected_gene': 'IRF2', 'score': 0.39}, {'connected_gene': 'ENSG00000270426', 'score': 0.39}]
chr4 GH04I184460 184460601 184461200 0.74 [{'connected_gene': 'ENSG00000251878', 'score': 11.61}, {'connected_gene': 'GC04M184456', 'score': 0.77}, {'connected_gene': 'IRF2', 'score': 0.39}, {'connected_gene': 'ENSG00000270426', 'score': 0.39}]
chr4 GH04I184468 184468449 184469068 0.2 [{'connected_gene': 'ENSG00000271646', 'score': 7.16}, {'connected_gene': 'ENSG00000270426', 'score': 0.77}, {'connected_gene': 'IRF2', 'score': 0.44}, {'connected_gene': 'GC04M184456', 'score': 0.39}]
chr4 GH04I184456 184456143 184460521 0.57 [{'connected_gene': 'GC04M184456', 'score': 550.77}, {'connected_gene': 'ENSG00000251878', 'score': 11.61}, {'connected_gene': 'PRIMPOL', 'score': 10.25}, {'connected_gene': 'CASP3', 'score': 10.25}, {'connected_gene': 'ENSG00000270426', 'score': 0.39}, {'connected_gene': 'IRF2', 'score': 0.37}]
chr4 GH04I184532 184532375 184538682 1.98 [{'connected_gene': 'GC04M184536', 'score': 550.77}, {'connected_gene': 'LINC02427', 'score': 27.19}, {'connected_gene': 'TRAPPC11', 'score': 12.94}, {'connected_gene': 'IRF2', 'score': 1.55}, {'connected_gene': 'ENSG00000271646', 'score': 0.21}]
chr4 GH04I184423 184423090 184424022 0.49 [{'connected_gene': 'GC04P184432', 'score': 0.44}, {'connected_gene': 'LINC02362', 'score': 0.26}, {'connected_gene': 'IRF2', 'score': 0.23}]
chr4 GH04I184413 184413279 184414344 1.12 [{'connected_gene': 'GC04P184432', 'score': 0.37}, {'connected_gene': 'LINC02362', 'score': 0.29}, {'connected_gene': 'IRF2', 'score': 0.21}]
chr4 GH04I184389 184389663 184390413 0.83 [{'connected_gene': 'ENSG00000251878', 'score': 11.16}, {'connected_gene': 'LINC02362', 'score': 0.44}, {'connected_gene': 'GC04P184432', 'score': 0.26}, {'connected_gene': 'IRF2', 'score': 0.18}]
chr4 GH04I184406 184406488 184410762 0.99 [{'connected_gene': 'GC04P184432', 'score': 0.34}, {'connected_gene': 'LINC02362', 'score': 0.31}, {'connected_gene': 'IRF2', 'score': 0.2}]