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
ENST00000369905 [[104238985, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262468]] [[104240619, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262404]]
ENST00000470322 [[104238986, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104243437]] None
ENST00000487599 [[104238993, 104240722], [104240888, 104240929], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262435]] [[104240689, 104240722], [104240888, 104240929], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262404]]
ENST00000545684 [[104240330, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104250305, 104250370], [104262356, 104262482]] [[104240619, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104247999]]
ENST00000446605 [[104240350, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104262356, 104262466]] [[104240619, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248867]]
ENST00000494549 [[104240551, 104240722], [104240888, 104240929], [104242767, 104242860], [104243916, 104244131]] None
ENST00000481044 [[104242770, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104262356, 104262411]] None
ENST00000480947 [[104243830, 104244133], [104245365, 104245490], [104247906, 104247990]] None
NM_005736 [[104238985, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262512]] [[104240619, 104240722], [104240888, 104240929], [104241593, 104241655], [104241757, 104241932], [104242767, 104242860], [104243916, 104244133], [104245365, 104245490], [104247906, 104248032], [104248819, 104248895], [104250305, 104250370], [104262356, 104262404]]
Promoter
Chrom Start End Description
chr10 104243962 104243975 CAGE_peak_3_at_ACTR1A_5end
chr10 104262426 104262437 CAGE_peak_2_at_ACTR1A_5end
chr10 104262460 104262489 CAGE_peak_1_at_ACTR1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I102484 102484304 102486305 0.2 [{'connected_gene': 'MFSD13A', 'score': 23.26}, {'connected_gene': 'C10orf95', 'score': 11.76}, {'connected_gene': 'RNU6-43P', 'score': 11.41}, {'connected_gene': 'NFKB2', 'score': 11.39}, {'connected_gene': 'MIR146B', 'score': 11.22}, {'connected_gene': 'CUEDC2', 'score': 11.21}, {'connected_gene': 'PSD', 'score': 11.1}, {'connected_gene': 'FBXL15', 'score': 11.09}, {'connected_gene': 'ELOVL3', 'score': 10.28}, {'connected_gene': 'ENSG00000273262', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.37}, {'connected_gene': 'GC10M102448', 'score': 0.28}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102462 102462732 102464370 0.86 [{'connected_gene': 'MFSD13A', 'score': 40.71}, {'connected_gene': 'MIR146B', 'score': 11.54}, {'connected_gene': 'CUEDC2', 'score': 11.52}, {'connected_gene': 'FBXL15', 'score': 11.45}, {'connected_gene': 'PSD', 'score': 11.45}, {'connected_gene': 'SUFU', 'score': 11.02}, {'connected_gene': 'RNU6-43P', 'score': 10.87}, {'connected_gene': 'NFKB2', 'score': 10.63}, {'connected_gene': 'ELOVL3', 'score': 9.66}, {'connected_gene': 'GC10P102468', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.28}, {'connected_gene': 'GC10M102448', 'score': 0.22}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102478 102478758 102479696 0.93 [{'connected_gene': 'MFSD13A', 'score': 34.93}, {'connected_gene': 'SUFU', 'score': 11.69}, {'connected_gene': 'MIR146B', 'score': 11.59}, {'connected_gene': 'CUEDC2', 'score': 11.58}, {'connected_gene': 'RNU6-43P', 'score': 11.27}, {'connected_gene': 'NFKB2', 'score': 11.2}, {'connected_gene': 'ELOVL3', 'score': 10.29}, {'connected_gene': 'ENSG00000273262', 'score': 0.77}, {'connected_gene': 'PIR54211', 'score': 0.44}, {'connected_gene': 'GC10P102474', 'score': 0.44}, {'connected_gene': 'ACTR1A', 'score': 0.34}, {'connected_gene': 'GC10M102448', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102625 102625402 102636039 1.59 [{'connected_gene': 'MFSD13A', 'score': 29.82}, {'connected_gene': 'SFXN2', 'score': 8.85}, {'connected_gene': 'ACTR1A', 'score': 5.31}, {'connected_gene': 'CUEDC2', 'score': 4.86}, {'connected_gene': 'GBF1', 'score': 1.58}, {'connected_gene': 'TRIM8', 'score': 0.39}, {'connected_gene': 'RNU6-43P', 'score': 0.28}, {'connected_gene': 'GC10M102383', 'score': 0.21}, {'connected_gene': 'GC10M102382', 'score': 0.21}, {'connected_gene': 'SUFU', 'score': 0.13}]
chr10 GH10I102595 102595093 102606248 1.65 [{'connected_gene': 'MFSD13A', 'score': 41.23}, {'connected_gene': 'SFXN2', 'score': 17.2}, {'connected_gene': 'ACTR1A', 'score': 12.81}, {'connected_gene': 'SUFU', 'score': 11.52}, {'connected_gene': 'C10orf95', 'score': 10.62}, {'connected_gene': 'PSD', 'score': 10.53}, {'connected_gene': 'FBXL15', 'score': 10.52}, {'connected_gene': 'CUEDC2', 'score': 10.52}, {'connected_gene': 'MIR146B', 'score': 10.51}, {'connected_gene': 'ARL3', 'score': 10.49}, {'connected_gene': 'WBP1L', 'score': 1.53}, {'connected_gene': 'RNU6-43P', 'score': 0.44}, {'connected_gene': 'TRIM8', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.16}, {'connected_gene': 'GC10M102382', 'score': 0.16}]
chr10 GH10I102567 102567405 102567907 0.2 [{'connected_gene': 'MFSD13A', 'score': 39.89}, {'connected_gene': 'RNU6-43P', 'score': 12.05}, {'connected_gene': 'SUFU', 'score': 11.92}, {'connected_gene': 'ACTR1A', 'score': 11.26}, {'connected_gene': 'C10orf95', 'score': 10.01}, {'connected_gene': 'RPL23AP58', 'score': 0.44}, {'connected_gene': 'GC10P102525', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.13}, {'connected_gene': 'GC10M102382', 'score': 0.13}]
chr10 GH10I102578 102578904 102581199 1.14 [{'connected_gene': 'MFSD13A', 'score': 39.31}, {'connected_gene': 'ACTR1A', 'score': 11.44}, {'connected_gene': 'SUFU', 'score': 11.44}, {'connected_gene': 'C10orf95', 'score': 10.76}, {'connected_gene': 'NFKB2', 'score': 10.62}, {'connected_gene': 'AS3MT', 'score': 6.9}, {'connected_gene': 'RPL23AP58', 'score': 0.44}, {'connected_gene': 'GC10P102592', 'score': 0.39}, {'connected_gene': 'GC10M102383', 'score': 0.14}, {'connected_gene': 'GC10M102382', 'score': 0.14}]
chr10 GH10I102542 102542431 102543513 0.52 [{'connected_gene': 'MFSD13A', 'score': 11.42}, {'connected_gene': 'ACTR1A', 'score': 4.99}, {'connected_gene': 'GC10P102525', 'score': 0.37}, {'connected_gene': 'RPL23AP58', 'score': 0.29}, {'connected_gene': 'SUFU', 'score': 0.26}, {'connected_gene': 'GC10M102383', 'score': 0.1}, {'connected_gene': 'GC10M102382', 'score': 0.1}]
chr10 GH10I102460 102460545 102462193 1.99 [{'connected_gene': 'MFSD13A', 'score': 566.79}, {'connected_gene': 'RPARP-AS1', 'score': 5.01}, {'connected_gene': 'C10orf95', 'score': 0.44}, {'connected_gene': 'ACTR1A', 'score': 0.26}, {'connected_gene': 'GC10M102448', 'score': 0.21}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102342 102342256 102344577 0.99 [{'connected_gene': 'PITX3', 'score': 20.12}, {'connected_gene': 'GBF1', 'score': 11.66}, {'connected_gene': 'ELOVL3', 'score': 11.57}, {'connected_gene': 'NOLC1', 'score': 10.52}, {'connected_gene': 'FBXL15', 'score': 10.29}, {'connected_gene': 'PSD', 'score': 10.29}, {'connected_gene': 'C10orf95', 'score': 9.45}, {'connected_gene': 'MFSD13A', 'score': 9.44}, {'connected_gene': 'ACTR1A', 'score': 1.96}, {'connected_gene': 'NFKB2', 'score': 0.23}, {'connected_gene': 'GC10P102289', 'score': 0.23}]
chr10 GH10I102492 102492512 102493431 0.43 [{'connected_gene': 'SFXN2', 'score': 6.14}, {'connected_gene': 'ACTR1A', 'score': 0.44}, {'connected_gene': 'ENSG00000273262', 'score': 0.44}, {'connected_gene': 'GC10M102448', 'score': 0.31}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102501 102501067 102505710 2.08 [{'connected_gene': 'ACTR1A', 'score': 550.77}, {'connected_gene': 'SUFU', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 45.58}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.12}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'RNU6-43P', 'score': 11.6}, {'connected_gene': 'C10orf95', 'score': 11.31}, {'connected_gene': 'FBXL15', 'score': 10.96}, {'connected_gene': 'PSD', 'score': 10.96}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'GBF1', 'score': 9.76}, {'connected_gene': 'RPARP-AS1', 'score': 5.03}, {'connected_gene': 'GC10P102507', 'score': 0.77}, {'connected_gene': 'GC10M102448', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I102467 102467548 102470200 0.87 [{'connected_gene': 'GC10P102468', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 39.59}, {'connected_gene': 'MIR146B', 'score': 12.06}, {'connected_gene': 'CUEDC2', 'score': 12.04}, {'connected_gene': 'SUFU', 'score': 11.7}, {'connected_gene': 'NFKB2', 'score': 11.63}, {'connected_gene': 'RNU6-43P', 'score': 11.53}, {'connected_gene': 'FBXL15', 'score': 11.09}, {'connected_gene': 'PSD', 'score': 11.09}, {'connected_gene': 'ELOVL3', 'score': 10.14}, {'connected_gene': 'RPARP-AS1', 'score': 5.24}, {'connected_gene': 'GC10P102474', 'score': 0.77}, {'connected_gene': 'PIR54211', 'score': 0.77}, {'connected_gene': 'ACTR1A', 'score': 0.29}, {'connected_gene': 'GC10M102448', 'score': 0.23}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]
chr10 GH10I102522 102522773 102524182 0.46 [{'connected_gene': 'GC10M102448', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 45.14}, {'connected_gene': 'SUFU', 'score': 11.6}, {'connected_gene': 'ACTR1A', 'score': 11.57}, {'connected_gene': 'RNU6-43P', 'score': 11.46}, {'connected_gene': 'C10orf95', 'score': 10.68}, {'connected_gene': 'ELOVL3', 'score': 9.41}, {'connected_gene': 'GC10P102525', 'score': 0.77}, {'connected_gene': 'GC10M102383', 'score': 0.09}, {'connected_gene': 'GC10M102382', 'score': 0.09}]
chr10 GH10I102473 102473524 102473673 0.2 [{'connected_gene': 'PIR54211', 'score': 550.77}, {'connected_gene': 'GC10P102474', 'score': 550.77}, {'connected_gene': 'SUFU', 'score': 11.67}, {'connected_gene': 'MIR146B', 'score': 11.61}, {'connected_gene': 'CUEDC2', 'score': 11.59}, {'connected_gene': 'RNU6-43P', 'score': 11.26}, {'connected_gene': 'NFKB2', 'score': 11.22}, {'connected_gene': 'ELOVL3', 'score': 10.29}, {'connected_gene': 'GC10P102468', 'score': 0.44}, {'connected_gene': 'MFSD13A', 'score': 0.39}, {'connected_gene': 'ACTR1A', 'score': 0.31}, {'connected_gene': 'GC10M102448', 'score': 0.25}, {'connected_gene': 'GC10M102383', 'score': 0.07}, {'connected_gene': 'GC10M102382', 'score': 0.07}]