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
ENST00000538159 [[76650003, 76650145], [76655091, 76655161], [76678649, 76678726], [76688670, 76688682], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]] [[76650003, 76650145], [76655091, 76655161], [76678649, 76678726], [76688670, 76688682], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
ENST00000514213 [[76650003, 76650085], [76650137, 76650157], [76655093, 76655164], [76678649, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]] [[76650003, 76650085], [76650137, 76650157], [76655093, 76655164], [76678649, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
ENST00000603759 [[76649776, 76650069]] [[76650003, 76650069]]
ENST00000264904 [[76678649, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76735366]] [[76678649, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
ENST00000512893 [[76691275, 76691692], [76691974, 76692077], [76692234, 76692291]] None
ENST00000441296 [[76711300, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76735382]] [[76711300, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
ENST00000508454 [[76726161, 76726456], [76727638, 76727708]] None
NM_003715 [[76649705, 76650069], [76657490, 76657499], [76676616, 76676635], [76678648, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76735442]] [[76650003, 76650069], [76657490, 76657499], [76676616, 76676635], [76678648, 76678726], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
NM_001290049 [[76649705, 76650069], [76657490, 76657499], [76676616, 76676635], [76678648, 76678726], [76681746, 76681758], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76735442]] [[76650003, 76650069], [76657490, 76657499], [76676616, 76676635], [76678648, 76678726], [76681746, 76681758], [76691591, 76691692], [76691974, 76692077], [76692234, 76692290], [76695828, 76695949], [76703832, 76704011], [76708214, 76708355], [76711302, 76711391], [76711795, 76711950], [76714842, 76715054], [76716488, 76716509], [76720774, 76720885], [76721503, 76721622], [76721770, 76721952], [76722231, 76722353], [76725286, 76725425], [76726292, 76726456], [76727638, 76727725], [76730105, 76730204], [76731584, 76731692], [76733312, 76733528], [76734358, 76734448]]
Promoter
Chrom Start End Description
chr4 76649753 76649774 CAGE_peak_2_at_USO1_5end
chr4 76649797 76649876 CAGE_peak_1_at_USO1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075654 75654558 75656061 0.31 [{'connected_gene': 'G3BP2', 'score': 22.96}, {'connected_gene': 'CDKL2', 'score': 11.28}, {'connected_gene': 'USO1', 'score': 10.99}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}, {'connected_gene': 'GC04P075638', 'score': 0.37}]
chr4 GH04I075695 75695105 75696975 0.88 [{'connected_gene': 'G3BP2', 'score': 6.94}, {'connected_gene': 'CDKL2', 'score': 5.53}, {'connected_gene': 'CCDC158', 'score': 4.92}, {'connected_gene': 'USO1', 'score': 4.8}, {'connected_gene': 'NAAA', 'score': 4.41}, {'connected_gene': 'RCHY1', 'score': 1.61}, {'connected_gene': 'THAP6', 'score': 1.55}, {'connected_gene': 'NUP54', 'score': 1.5}, {'connected_gene': 'GC04M075663', 'score': 0.29}, {'connected_gene': 'ENSG00000201644', 'score': 0.29}]
chr4 GH04I075671 75671213 75675587 2.26 [{'connected_gene': 'G3BP2', 'score': 563.19}, {'connected_gene': 'USO1', 'score': 17.54}, {'connected_gene': 'CDKL2', 'score': 11.71}, {'connected_gene': 'NUP54', 'score': 10.01}, {'connected_gene': 'NAAA', 'score': 4.4}, {'connected_gene': 'GC04M075663', 'score': 0.39}, {'connected_gene': 'ENSG00000201644', 'score': 0.39}]
chr4 GH04I075701 75701860 75706972 1.03 [{'connected_gene': 'G3BP2', 'score': 18.94}, {'connected_gene': 'USO1', 'score': 18.4}, {'connected_gene': 'CDKL2', 'score': 11.04}, {'connected_gene': 'ODAPH', 'score': 10.13}, {'connected_gene': 'CCDC158', 'score': 5.36}, {'connected_gene': 'GC04M075663', 'score': 0.26}, {'connected_gene': 'ENSG00000201644', 'score': 0.26}]
chr4 GH04I075697 75697881 75699685 1.35 [{'connected_gene': 'G3BP2', 'score': 7.89}, {'connected_gene': 'USO1', 'score': 6.26}, {'connected_gene': 'RCHY1', 'score': 1.45}, {'connected_gene': 'GC04M075663', 'score': 0.28}, {'connected_gene': 'ENSG00000201644', 'score': 0.28}]
chr4 GH04I075686 75686173 75687329 0.96 [{'connected_gene': 'G3BP2', 'score': 19.41}, {'connected_gene': 'USO1', 'score': 16.49}, {'connected_gene': 'LOC105377284', 'score': 11.32}, {'connected_gene': 'RNU2-16P', 'score': 11.32}, {'connected_gene': 'CDKL2', 'score': 10.67}, {'connected_gene': 'RCHY1', 'score': 1.25}, {'connected_gene': 'GC04M075663', 'score': 0.34}, {'connected_gene': 'ENSG00000201644', 'score': 0.34}]
chr4 GH04I075668 75667401 75667800 0.2 [{'connected_gene': 'G3BP2', 'score': 19.62}, {'connected_gene': 'USO1', 'score': 12.4}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}]
chr4 GH04I075667 75667919 75669867 0.56 [{'connected_gene': 'G3BP2', 'score': 24.24}, {'connected_gene': 'USO1', 'score': 16.6}, {'connected_gene': 'GC04M075663', 'score': 0.44}, {'connected_gene': 'ENSG00000201644', 'score': 0.44}]
chr4 GH04I075658 75658641 75659875 0.54 [{'connected_gene': 'G3BP2', 'score': 24.21}, {'connected_gene': 'USO1', 'score': 16.45}, {'connected_gene': 'GC04M075663', 'score': 0.77}, {'connected_gene': 'ENSG00000201644', 'score': 0.77}, {'connected_gene': 'GC04P075638', 'score': 0.34}]
chr4 GH04I075707 75707955 75708846 0.76 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'G3BP2', 'score': 7.99}, {'connected_gene': 'USO1', 'score': 4.35}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075710 75710200 75710401 0.46 [{'connected_gene': 'CDKL2', 'score': 10.97}, {'connected_gene': 'ODAPH', 'score': 9.89}, {'connected_gene': 'USO1', 'score': 5.0}, {'connected_gene': 'G3BP2', 'score': 0.39}, {'connected_gene': 'GC04M075663', 'score': 0.25}, {'connected_gene': 'ENSG00000201644', 'score': 0.25}]
chr4 GH04I075722 75722181 75727304 2.26 [{'connected_gene': 'USO1', 'score': 557.88}, {'connected_gene': 'G3BP2', 'score': 550.77}, {'connected_gene': 'CDKL2', 'score': 10.08}, {'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'GC04P075797', 'score': 0.19}]
chr4 GH04I075682 75682980 75683431 0.31 [{'connected_gene': 'USO1', 'score': 11.65}, {'connected_gene': 'G3BP2', 'score': 11.65}, {'connected_gene': 'ODAPH', 'score': 10.1}, {'connected_gene': 'GC04M075663', 'score': 0.34}, {'connected_gene': 'ENSG00000201644', 'score': 0.34}]
chr4 GH04I075665 75665939 75667260 0.54 [{'connected_gene': 'USO1', 'score': 12.4}, {'connected_gene': 'G3BP2', 'score': 12.4}, {'connected_gene': 'GC04M075663', 'score': 0.77}, {'connected_gene': 'ENSG00000201644', 'score': 0.77}]
chr4 GH04I075744 75744764 75746665 0.82 [{'connected_gene': 'USO1', 'score': 6.92}, {'connected_gene': 'G3BP2', 'score': 0.34}, {'connected_gene': 'GC04P075797', 'score': 0.23}]
chr4 GH04I075542 75542015 75544062 0.46 [{'connected_gene': 'USO1', 'score': 4.6}, {'connected_gene': 'ODAPH', 'score': 0.39}, {'connected_gene': 'PIR35294', 'score': 0.37}, {'connected_gene': 'THAP6', 'score': 0.29}]
chr4 GH04I075714 75714513 75716201 0.8 [{'connected_gene': 'ODAPH', 'score': 9.56}, {'connected_gene': 'USO1', 'score': 6.43}, {'connected_gene': 'G3BP2', 'score': 4.99}, {'connected_gene': 'GC04M075663', 'score': 0.23}, {'connected_gene': 'ENSG00000201644', 'score': 0.23}]

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