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
ENST00000511608 [[187130132, 187130153], [187130246, 187130426], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179623]] [[187130132, 187130153], [187130246, 187130426], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179366]]
ENST00000264690 [[187148555, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179625]] [[187149349, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179366]]
ENST00000513864 [[187148671, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187179174, 187179624]] [[187149349, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187179174, 187179248]]
ENST00000511406 [[187148712, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171587], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179446]] None
ENST00000428196 [[187147591, 187147643], [187148593, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158050]] [[187149349, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158050]]
ENST00000446598 [[187148660, 187148741], [187149398, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159458]] [[187153336, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159458]]
ENST00000414291 [[187148671, 187148741], [187149398, 187149407], [187150024, 187150143], [187153280, 187153443], [187155105, 187155212], [187157934, 187158041]] [[187153336, 187153443], [187155105, 187155212], [187157934, 187158041]]
ENST00000467271 [[187172185, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173317]] None
NM_001318394 [[187148624, 187148741], [187149398, 187149407], [187150024, 187150143], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187179174, 187179628]] [[187153336, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187179174, 187179248]]
NM_000892 [[187148624, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179628]] [[187149349, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171556], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179366]]
NM_001318396 [[187148624, 187148741], [187149348, 187149407], [187153280, 187153443], [187155105, 187155212], [187157934, 187158094], [187159409, 187159519], [187171396, 187171587], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179628]] [[187171435, 187171587], [187172372, 187172482], [187172640, 187172803], [187172902, 187173015], [187173170, 187173339], [187175741, 187175917], [187177145, 187177241], [187178379, 187178519], [187179174, 187179366]]
Promoter
Chrom Start End Description
chr4 187148655 187148687 CAGE_peak_1_at_KLKB1_5end
chr4 187148693 187148704 CAGE_peak_2_at_KLKB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I186264 186264783 186267563 1.37 [{'connected_gene': 'F11', 'score': 556.93}, {'connected_gene': 'GC04P186267', 'score': 550.77}, {'connected_gene': 'KLKB1', 'score': 7.5}, {'connected_gene': 'GC04M186330', 'score': 0.21}]
chr19 GH19I050874 50874592 50879292 0.87 [{'connected_gene': 'C19orf48', 'score': 21.45}, {'connected_gene': 'KLK4', 'score': 12.64}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'SNORD88C', 'score': 11.78}, {'connected_gene': 'LINC01869', 'score': 11.57}, {'connected_gene': 'NUP62', 'score': 11.32}, {'connected_gene': 'KLKP1', 'score': 7.96}, {'connected_gene': 'KLK2', 'score': 5.53}, {'connected_gene': 'KLK3', 'score': 0.34}]
chr19 GH19I050843 50843016 50845166 0.65 [{'connected_gene': 'ZNF175', 'score': 16.29}, {'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.69}, {'connected_gene': 'SNORD88B', 'score': 11.69}, {'connected_gene': 'C19orf48', 'score': 11.38}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK14', 'score': 9.65}, {'connected_gene': 'KLK3', 'score': 5.94}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19 GH19I050846 50846285 50847142 0.2 [{'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.68}, {'connected_gene': 'SNORD88B', 'score': 11.68}, {'connected_gene': 'LINC01869', 'score': 11.59}, {'connected_gene': 'C19orf48', 'score': 11.57}, {'connected_gene': 'KLK1', 'score': 11.52}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.37}]
chr19 GH19I050841 50841843 50842743 0.38 [{'connected_gene': 'SNORD88C', 'score': 11.71}, {'connected_gene': 'LINC01869', 'score': 11.4}, {'connected_gene': 'C19orf48', 'score': 11.38}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19 GH19I050835 50835401 50837092 1.65 [{'connected_gene': 'KLK15', 'score': 550.77}, {'connected_gene': 'ZNF175', 'score': 20.6}, {'connected_gene': 'NUP62', 'score': 13.06}, {'connected_gene': 'PTOV1-AS2', 'score': 12.64}, {'connected_gene': 'LINC01869', 'score': 11.85}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.84}, {'connected_gene': 'KLK2', 'score': 11.32}, {'connected_gene': 'SNORD88A', 'score': 11.11}, {'connected_gene': 'SNORD88B', 'score': 11.11}, {'connected_gene': 'PNKP', 'score': 10.37}, {'connected_gene': 'KLK3', 'score': 9.98}, {'connected_gene': 'POLD1', 'score': 9.79}, {'connected_gene': 'SYT3', 'score': 2.85}, {'connected_gene': 'LRRC4B', 'score': 2.49}, {'connected_gene': 'KLK14', 'score': 1.65}, {'connected_gene': 'IGLON5', 'score': 1.15}, {'connected_gene': 'LOC105372441', 'score': 0.44}]
chr19 GH19I050838 50838075 50839688 0.6 [{'connected_gene': 'KLK15', 'score': 555.49}, {'connected_gene': 'KLK2', 'score': 17.12}, {'connected_gene': 'LINC01869', 'score': 11.84}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.82}, {'connected_gene': 'SNORD88A', 'score': 11.45}, {'connected_gene': 'SNORD88B', 'score': 11.45}, {'connected_gene': 'IL4I1', 'score': 5.6}, {'connected_gene': 'ASPDH', 'score': 4.42}, {'connected_gene': 'LOC105372441', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.37}]
chr19 GH19I050837 50837209 50837886 0.63 [{'connected_gene': 'KLK15', 'score': 550.77}, {'connected_gene': 'KLK2', 'score': 15.93}, {'connected_gene': 'LINC01869', 'score': 11.85}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.82}, {'connected_gene': 'SNORD88A', 'score': 11.11}, {'connected_gene': 'SNORD88B', 'score': 11.11}, {'connected_gene': 'LOC105372441', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.37}]
chr19 GH19I050840 50840948 50841766 0.31 [{'connected_gene': 'POLD1', 'score': 16.01}, {'connected_gene': 'NUP62', 'score': 13.69}, {'connected_gene': 'PTOV1-AS2', 'score': 13.38}, {'connected_gene': 'KLK2', 'score': 11.94}, {'connected_gene': 'SNORD88C', 'score': 11.71}, {'connected_gene': 'LINC01869', 'score': 11.55}, {'connected_gene': 'C19orf48', 'score': 11.53}, {'connected_gene': 'KLK15', 'score': 0.77}, {'connected_gene': 'KLK3', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr4 GH04I185965 185965394 185966600 0.77 [{'connected_gene': 'KLKB1', 'score': 4.85}, {'connected_gene': 'SORBS2', 'score': 0.44}, {'connected_gene': 'RNU4-64P', 'score': 0.21}]
chr19 GH19I050854 50854866 50854925 0.7 [{'connected_gene': 'KLK3', 'score': 550.77}, {'connected_gene': 'KLK1', 'score': 11.67}, {'connected_gene': 'LINC01869', 'score': 11.62}, {'connected_gene': 'C19orf48', 'score': 10.82}, {'connected_gene': 'SNORD88C', 'score': 10.8}, {'connected_gene': 'SNORD88A', 'score': 9.97}, {'connected_gene': 'SNORD88B', 'score': 9.97}, {'connected_gene': 'KLK15', 'score': 0.37}]
chr19 GH19I050855 50855577 50857010 0.2 [{'connected_gene': 'KLK3', 'score': 556.07}, {'connected_gene': 'KLK1', 'score': 11.67}, {'connected_gene': 'LINC01869', 'score': 11.62}, {'connected_gene': 'C19orf48', 'score': 10.8}, {'connected_gene': 'SNORD88C', 'score': 10.8}, {'connected_gene': 'KLK2', 'score': 10.06}, {'connected_gene': 'SNORD88A', 'score': 9.97}, {'connected_gene': 'SNORD88B', 'score': 9.97}, {'connected_gene': 'GC19P050860', 'score': 0.77}]
chr4 GH04I186246 186246017 186252583 1.06 [{'connected_gene': 'KLKB1', 'score': 15.44}, {'connected_gene': 'CYP4V2', 'score': 11.57}, {'connected_gene': 'F11', 'score': 8.19}, {'connected_gene': 'GC04M186242', 'score': 0.44}]
chr4 GH04I186260 186260003 186261802 0.87 [{'connected_gene': 'KLKB1', 'score': 11.64}, {'connected_gene': 'CYP4V2', 'score': 7.79}, {'connected_gene': 'F11', 'score': 0.44}, {'connected_gene': 'GC04M186242', 'score': 0.37}]
chr4 GH04I186720 186720194 186721135 0.59 [{'connected_gene': 'KLKB1', 'score': 4.61}, {'connected_gene': 'FAT1', 'score': 0.44}, {'connected_gene': 'GC04M186621', 'score': 0.15}]
chr4 GH04I186227 186227470 186227529 1.04 [{'connected_gene': 'KLKB1', 'score': 550.37}, {'connected_gene': 'GC04M186242', 'score': 0.39}]
chr19 GH19I050849 50849506 50852855 0.56 [{'connected_gene': 'KLK2', 'score': 10.21}, {'connected_gene': 'KLK4', 'score': 5.32}, {'connected_gene': 'KLK3', 'score': 0.77}, {'connected_gene': 'KLK15', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.34}]
chr19 GH19I050868 50868192 50871267 0.92 [{'connected_gene': 'KLK2', 'score': 11.49}, {'connected_gene': 'SNORD88C', 'score': 10.81}, {'connected_gene': 'C19orf48', 'score': 10.78}, {'connected_gene': 'LINC01869', 'score': 10.78}, {'connected_gene': 'KLK3', 'score': 0.39}, {'connected_gene': 'KLKP1', 'score': 0.31}]
chr19 GH19I050861 50861215 50863251 0.31 [{'connected_gene': 'KLK2', 'score': 558.69}, {'connected_gene': 'GC19P050860', 'score': 550.77}, {'connected_gene': 'KLK15', 'score': 11.8}, {'connected_gene': 'KLK1', 'score': 11.77}, {'connected_gene': 'LINC01869', 'score': 11.72}, {'connected_gene': 'KLK4', 'score': 11.17}, {'connected_gene': 'C19orf48', 'score': 10.97}, {'connected_gene': 'SNORD88C', 'score': 10.97}, {'connected_gene': 'SNORD88A', 'score': 9.96}, {'connected_gene': 'SNORD88B', 'score': 9.96}, {'connected_gene': 'KLK5', 'score': 5.87}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'KLKP1', 'score': 0.29}]
chr19 GH19I050875 50873250 50873309 0.7 [{'connected_gene': 'KLK2', 'score': 561.66}, {'connected_gene': 'KLK3', 'score': 0.37}, {'connected_gene': 'KLKP1', 'score': 0.34}]
chr19 GH19I050873 50873390 50873449 0.88 [{'connected_gene': 'KLK2', 'score': 550.39}, {'connected_gene': 'KLK3', 'score': 0.37}, {'connected_gene': 'KLKP1', 'score': 0.34}]
chr19 GH19I050872 50872167 50872883 0.2 [{'connected_gene': 'KLK2', 'score': 11.06}, {'connected_gene': 'KLK3', 'score': 0.37}, {'connected_gene': 'KLKP1', 'score': 0.34}]
chr19 GH19I050845 50845195 50846237 0.2 [{'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.68}, {'connected_gene': 'SNORD88B', 'score': 11.68}, {'connected_gene': 'C19orf48', 'score': 11.57}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.37}]
chr4 GH04I186189 186189140 186193515 2.26 [{'connected_gene': 'CYP4V2', 'score': 599.44}, {'connected_gene': 'FLJ38576', 'score': 550.77}, {'connected_gene': 'FAM149A', 'score': 30.43}, {'connected_gene': 'KLKB1', 'score': 28.16}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'ORAOV1P1', 'score': 0.34}]
chr4 GH04I186201 186201566 186202513 1.18 [{'connected_gene': 'CYP4V2', 'score': 17.34}, {'connected_gene': 'KLKB1', 'score': 0.44}, {'connected_gene': 'FLJ38576', 'score': 0.39}]
chr4 GH04I186203 186203142 186206315 1.53 [{'connected_gene': 'CYP4V2', 'score': 27.28}, {'connected_gene': 'KLKB1', 'score': 5.67}, {'connected_gene': 'FLJ38576', 'score': 0.39}]
chr19 GH19I050414 50414178 50421246 1.9 [{'connected_gene': 'ENSG00000142539', 'score': 550.77}, {'connected_gene': 'SPIB', 'score': 550.77}, {'connected_gene': 'NAPSB', 'score': 6.46}, {'connected_gene': 'KLK3', 'score': 5.78}, {'connected_gene': 'POLD1', 'score': 0.29}]
chr19 GH19I050857 50857078 50860720 0.54 [{'connected_gene': 'GC19P050860', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'KLK15', 'score': 11.71}, {'connected_gene': 'KLK1', 'score': 11.65}, {'connected_gene': 'LINC01869', 'score': 11.61}, {'connected_gene': 'NUP62', 'score': 11.33}, {'connected_gene': 'C19orf48', 'score': 10.8}, {'connected_gene': 'SNORD88C', 'score': 10.79}, {'connected_gene': 'SNORD88A', 'score': 9.97}, {'connected_gene': 'SNORD88B', 'score': 9.97}, {'connected_gene': 'KLK2', 'score': 9.29}, {'connected_gene': 'KLK3', 'score': 5.27}]
chr4 GH04I186240 186240442 186245747 0.58 [{'connected_gene': 'GC04M186242', 'score': 550.77}, {'connected_gene': 'CYP4V2', 'score': 20.31}, {'connected_gene': 'KLKB1', 'score': 13.59}, {'connected_gene': 'F11', 'score': 7.23}]

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