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
ENST00000373019 [[38422646, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455267], [38455541, 38456593]] [[38423857, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455267], [38455541, 38455637]]
ENST00000448721 [[38423688, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455659]] [[38423857, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455637]]
ENST00000487062 [[38423734, 38423935], [38425791, 38426365]] None
ENST00000460925 [[38435058, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444871]] None
ENST00000489537 [[38444394, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455322]] None
ENST00000461869 [[38444661, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455747]] None
ENST00000470585 [[38445062, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455667]] None
ENST00000488934 [[38445136, 38445205], [38446257, 38446461]] None
ENST00000462258 [[38449789, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455267], [38455541, 38455645]] None
NM_006802 [[38422646, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455267], [38455541, 38455782]] [[38423857, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38453244, 38453350], [38453455, 38453508], [38455219, 38455267], [38455541, 38455637]]
NM_001320830 [[38422646, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455782]] [[38423857, 38423935], [38425791, 38425847], [38433715, 38433806], [38435025, 38435136], [38435242, 38435407], [38442555, 38442625], [38444391, 38444499], [38444659, 38444727], [38445136, 38445205], [38446257, 38446396], [38447400, 38447483], [38449840, 38449932], [38450378, 38450451], [38455219, 38455267], [38455541, 38455637]]
Promoter
Chrom Start End Description
chr1 38455650 38455723 CAGE_peak_1_at_SF3A3_5end
chr1 38455729 38455759 CAGE_peak_2_at_SF3A3_5end
chr1 38455760 38455765 CAGE_peak_3_at_SF3A3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I037470 37470221 37488505 2.85 [{'connected_gene': 'ZC3H12A', 'score': 596.91}, {'connected_gene': 'MIR6732', 'score': 550.77}, {'connected_gene': 'LINC01137', 'score': 44.26}, {'connected_gene': 'MTF1', 'score': 33.94}, {'connected_gene': 'SNIP1', 'score': 21.25}, {'connected_gene': 'GNL2', 'score': 17.01}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'SF3A3', 'score': 14.23}, {'connected_gene': 'FTH1P1', 'score': 10.37}, {'connected_gene': 'MEAF6', 'score': 9.98}, {'connected_gene': 'YRDC', 'score': 3.72}, {'connected_gene': 'C1orf122', 'score': 1.83}, {'connected_gene': 'PIR46555', 'score': 0.77}, {'connected_gene': 'GC01M037470', 'score': 0.44}]
chr1 GH01I037552 37552818 37554929 2.08 [{'connected_gene': 'SNIP1', 'score': 624.04}, {'connected_gene': 'C1orf109', 'score': 51.41}, {'connected_gene': 'SF3A3', 'score': 49.07}, {'connected_gene': 'GNL2', 'score': 42.15}, {'connected_gene': 'FTH1P1', 'score': 30.46}, {'connected_gene': 'YRDC', 'score': 19.59}, {'connected_gene': 'INPP5B', 'score': 15.78}, {'connected_gene': 'CDCA8', 'score': 10.18}, {'connected_gene': 'ZC3H12A', 'score': 10.16}, {'connected_gene': 'RSPO1', 'score': 5.68}, {'connected_gene': 'LINC01137', 'score': 4.49}, {'connected_gene': 'GC01P037546', 'score': 0.44}]
chr1 GH01I037513 37513342 37515921 2.07 [{'connected_gene': 'MEAF6', 'score': 564.37}, {'connected_gene': 'SF3A3', 'score': 51.85}, {'connected_gene': 'GNL2', 'score': 32.01}, {'connected_gene': 'FTH1P1', 'score': 29.24}, {'connected_gene': 'DNALI1', 'score': 21.96}, {'connected_gene': 'INPP5B', 'score': 13.99}, {'connected_gene': 'SNIP1', 'score': 11.29}, {'connected_gene': 'RPS27P9', 'score': 11.27}, {'connected_gene': 'YRDC', 'score': 10.43}, {'connected_gene': 'C1orf109', 'score': 9.89}, {'connected_gene': 'LINC01137', 'score': 4.59}, {'connected_gene': 'MIR5581', 'score': 0.39}]
chr1 GH01I038857 38857509 38861201 2.07 [{'connected_gene': 'RRAGC', 'score': 550.77}, {'connected_gene': 'PIR59723', 'score': 550.77}, {'connected_gene': 'LOC105378663', 'score': 550.77}, {'connected_gene': 'PPIE', 'score': 25.25}, {'connected_gene': 'SF3A3', 'score': 24.76}, {'connected_gene': 'INPP5B', 'score': 14.59}, {'connected_gene': 'PPIEL', 'score': 13.67}, {'connected_gene': 'GC01P038850', 'score': 0.44}, {'connected_gene': 'ENSG00000273637', 'score': 0.37}]
chr1 GH01I037688 37688686 37693558 2.11 [{'connected_gene': 'C1orf109', 'score': 581.46}, {'connected_gene': 'CDCA8', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 43.06}, {'connected_gene': 'EPHA10', 'score': 37.91}, {'connected_gene': 'GNL2', 'score': 29.67}, {'connected_gene': 'FTH1P1', 'score': 21.01}, {'connected_gene': 'RSPO1', 'score': 11.01}, {'connected_gene': 'YRDC', 'score': 10.5}, {'connected_gene': 'DNALI1', 'score': 6.4}, {'connected_gene': 'GC01P037645', 'score': 0.25}]
chr1 GH01I038008 38008280 38017539 2.53 [{'connected_gene': 'UTP11', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 48.63}, {'connected_gene': 'INPP5B', 'score': 47.92}, {'connected_gene': 'SNIP1', 'score': 37.34}, {'connected_gene': 'C1orf109', 'score': 35.84}, {'connected_gene': 'RNU6-510P', 'score': 12.1}, {'connected_gene': 'FTH1P1', 'score': 10.74}, {'connected_gene': 'RSPO1', 'score': 10.27}, {'connected_gene': 'MTF1', 'score': 10.23}, {'connected_gene': 'ENSG00000230955', 'score': 10.23}, {'connected_gene': 'YRDC', 'score': 10.18}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'GNL2', 'score': 9.78}, {'connected_gene': 'CDCA8', 'score': 8.69}, {'connected_gene': 'GC01P038029', 'score': 0.37}]
chr1 GH01I037858 37858152 37861557 2.27 [{'connected_gene': 'MTF1', 'score': 550.77}, {'connected_gene': 'ENSG00000230955', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 30.56}, {'connected_gene': 'SNIP1', 'score': 24.23}, {'connected_gene': 'GNL2', 'score': 17.35}, {'connected_gene': 'INPP5B', 'score': 11.87}, {'connected_gene': 'UTP11', 'score': 10.42}, {'connected_gene': 'C1orf109', 'score': 10.03}, {'connected_gene': 'FHL3', 'score': 4.57}]
chr1 GH01I037944 37944990 37948182 2.06 [{'connected_gene': 'INPP5B', 'score': 565.86}, {'connected_gene': 'FHL3', 'score': 22.7}, {'connected_gene': 'SF3A3', 'score': 16.23}, {'connected_gene': 'MYCBP', 'score': 10.53}, {'connected_gene': 'GNL2', 'score': 10.52}, {'connected_gene': 'LOC105378651', 'score': 0.39}]
chr1 GH01I037890 37890489 37890678 0.64 [{'connected_gene': 'INPP5B', 'score': 12.05}, {'connected_gene': 'SF3A3', 'score': 11.64}, {'connected_gene': 'RNU6-510P', 'score': 11.64}, {'connected_gene': 'UTP11', 'score': 10.43}, {'connected_gene': 'FHL3', 'score': 10.43}, {'connected_gene': 'RNU6-584P', 'score': 0.44}, {'connected_gene': 'LOC105378651', 'score': 0.26}]
chr1 GH01I037916 37915809 37915958 0.46 [{'connected_gene': 'INPP5B', 'score': 12.78}, {'connected_gene': 'SF3A3', 'score': 11.11}, {'connected_gene': 'RNU6-510P', 'score': 11.11}, {'connected_gene': 'MTF1', 'score': 11.04}, {'connected_gene': 'ENSG00000230955', 'score': 11.04}, {'connected_gene': 'LOC105378651', 'score': 0.37}, {'connected_gene': 'RNU6-584P', 'score': 0.29}]
chr1 GH01I037915 37915449 37915598 0.31 [{'connected_gene': 'INPP5B', 'score': 12.78}, {'connected_gene': 'SF3A3', 'score': 11.11}, {'connected_gene': 'RNU6-510P', 'score': 11.11}, {'connected_gene': 'ENSG00000230955', 'score': 11.05}, {'connected_gene': 'MTF1', 'score': 11.04}, {'connected_gene': 'LOC105378651', 'score': 0.37}, {'connected_gene': 'RNU6-584P', 'score': 0.29}]
chr1 GH01I037957 37957879 37960410 0.43 [{'connected_gene': 'EPHA10', 'score': 5.17}, {'connected_gene': 'SF3A3', 'score': 5.06}, {'connected_gene': 'FHL3', 'score': 4.75}, {'connected_gene': 'C1orf109', 'score': 4.6}, {'connected_gene': 'ENSG00000277168', 'score': 0.44}]
chr1 GH01I038063 38063792 38064804 0.67 [{'connected_gene': 'MYCBP', 'score': 14.07}, {'connected_gene': 'SNIP1', 'score': 14.07}, {'connected_gene': 'SF3A3', 'score': 13.88}, {'connected_gene': 'FTH1P1', 'score': 12.33}, {'connected_gene': 'GNL2', 'score': 10.22}, {'connected_gene': 'AKIRIN1', 'score': 5.75}, {'connected_gene': 'ENSG00000224592', 'score': 0.37}, {'connected_gene': 'LOC105378653', 'score': 0.37}, {'connected_gene': 'ENSG00000223589', 'score': 0.37}]
chr1 GH01I038872 38872141 38874395 2 [{'connected_gene': 'MYCBP', 'score': 563.26}, {'connected_gene': 'ENSG00000273637', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 17.18}, {'connected_gene': 'PPIE', 'score': 14.21}, {'connected_gene': 'INPP5B', 'score': 13.5}, {'connected_gene': 'PPIEL', 'score': 10.73}, {'connected_gene': 'LOC101929516', 'score': 10.64}, {'connected_gene': 'AKIRIN1', 'score': 10.61}, {'connected_gene': 'RHBDL2', 'score': 5.33}, {'connected_gene': 'PIR40308', 'score': 0.44}, {'connected_gene': 'GJA9-MYCBP', 'score': 0.44}, {'connected_gene': 'ENSG00000274944', 'score': 0.44}, {'connected_gene': 'GJA9', 'score': 0.44}, {'connected_gene': 'LOC105378663', 'score': 0.39}]
chr1 GH01I037545 37545130 37545378 0.43 [{'connected_gene': 'FTH1P1', 'score': 562.29}, {'connected_gene': 'GC01P037545', 'score': 550.77}, {'connected_gene': 'GC01P037546', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 35.96}, {'connected_gene': 'SF3A3', 'score': 21.34}, {'connected_gene': 'SNIP1', 'score': 15.7}, {'connected_gene': 'MEAF6', 'score': 11.86}, {'connected_gene': 'INPP5B', 'score': 11.38}, {'connected_gene': 'CDCA8', 'score': 10.17}, {'connected_gene': 'C1orf109', 'score': 10.17}, {'connected_gene': 'ZC3H12A', 'score': 2.5}, {'connected_gene': 'MTF1', 'score': 2.15}]
chr1 GH01I037994 37994512 38008164 2.7 [{'connected_gene': 'FHL3', 'score': 599.57}, {'connected_gene': 'SF3A3', 'score': 46.56}, {'connected_gene': 'SNIP1', 'score': 17.01}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'C1orf109', 'score': 11.45}, {'connected_gene': 'FTH1P1', 'score': 11.15}, {'connected_gene': 'GNL2', 'score': 9.68}, {'connected_gene': 'MEAF6', 'score': 5.26}, {'connected_gene': 'UTP11', 'score': 1.92}, {'connected_gene': 'MTF1', 'score': 1.44}, {'connected_gene': 'RNU6-510P', 'score': 0.44}]
chr1 GH01I037793 37793600 37794801 1.93 [{'connected_gene': 'MANEAL', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 15.53}, {'connected_gene': 'SNIP1', 'score': 12.67}, {'connected_gene': 'SF3A3', 'score': 9.73}, {'connected_gene': 'ENSG00000233728', 'score': 0.44}]
chr1 GH01I037806 37806382 37809902 1.98 [{'connected_gene': 'C1orf122', 'score': 550.77}, {'connected_gene': 'YRDC', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 34.22}, {'connected_gene': 'SF3A3', 'score': 21.38}, {'connected_gene': 'SNIP1', 'score': 15.33}, {'connected_gene': 'GNL2', 'score': 12.23}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'FHL3', 'score': 4.69}, {'connected_gene': 'GC01M037824', 'score': 0.44}, {'connected_gene': 'MTF1', 'score': 0.23}]
chr1 GH01I037214 37214183 37214870 0.2 [{'connected_gene': 'SF3A3', 'score': 4.34}, {'connected_gene': 'C1orf109', 'score': 4.29}, {'connected_gene': 'RNU6-636P', 'score': 0.39}, {'connected_gene': 'RNA5SP43', 'score': 0.23}]
chr1 GH01I037921 37921190 37923924 1.16 [{'connected_gene': 'SF3A3', 'score': 30.46}, {'connected_gene': 'INPP5B', 'score': 24.73}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'MYCBP', 'score': 11.15}, {'connected_gene': 'RNU6-510P', 'score': 11.13}, {'connected_gene': 'MTF1', 'score': 11.03}, {'connected_gene': 'ENSG00000230955', 'score': 11.03}, {'connected_gene': 'GNL2', 'score': 10.88}, {'connected_gene': 'YRDC', 'score': 10.51}, {'connected_gene': 'C1orf109', 'score': 9.86}, {'connected_gene': 'UTP11', 'score': 5.97}, {'connected_gene': 'LOC105378651', 'score': 0.44}, {'connected_gene': 'RNU6-584P', 'score': 0.28}]
chr1 GH01I037924 37924950 37927521 0.86 [{'connected_gene': 'SF3A3', 'score': 16.12}, {'connected_gene': 'INPP5B', 'score': 12.17}, {'connected_gene': 'FHL3', 'score': 5.62}, {'connected_gene': 'LOC105378651', 'score': 0.44}, {'connected_gene': 'RNU6-584P', 'score': 0.26}]
chr1 GH01I037988 37988587 37990987 2.16 [{'connected_gene': 'SF3A3', 'score': 676.08}, {'connected_gene': 'RNU6-510P', 'score': 550.77}, {'connected_gene': 'GC01P037993', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 87.66}, {'connected_gene': 'FTH1P1', 'score': 48.77}, {'connected_gene': 'INPP5B', 'score': 46.42}, {'connected_gene': 'GNL2', 'score': 46.21}, {'connected_gene': 'MYCBP', 'score': 44.52}, {'connected_gene': 'FHL3', 'score': 33.56}, {'connected_gene': 'RSPO1', 'score': 28.78}, {'connected_gene': 'RRAGC', 'score': 20.04}, {'connected_gene': 'YRDC', 'score': 19.0}, {'connected_gene': 'DNALI1', 'score': 12.27}, {'connected_gene': 'MEAF6', 'score': 12.08}, {'connected_gene': 'ENSG00000277168', 'score': 0.28}]
chr1 GH01I038020 38019049 38019198 0.88 [{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1 GH01I038018 38018505 38019002 0.67 [{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1 GH01I037234 37234889 37235696 0.2 [{'connected_gene': 'SF3A3', 'score': 4.38}, {'connected_gene': 'RNA5SP43', 'score': 0.31}, {'connected_gene': 'RNU6-636P', 'score': 0.29}]
chr1 GH01I037987 37987809 37987958 0.74 [{'connected_gene': 'SF3A3', 'score': 11.15}, {'connected_gene': 'ENSG00000277168', 'score': 0.29}]
chr1 GH01I037930 37930135 37933295 1.97 [{'connected_gene': 'LOC105378651', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 550.37}, {'connected_gene': 'SF3A3', 'score': 54.31}, {'connected_gene': 'SNIP1', 'score': 24.22}, {'connected_gene': 'C1orf109', 'score': 19.34}, {'connected_gene': 'GNL2', 'score': 17.33}, {'connected_gene': 'FHL3', 'score': 11.47}, {'connected_gene': 'UTP11', 'score': 10.49}, {'connected_gene': 'RNU6-584P', 'score': 0.25}]
chr1 GH01I038984 38984989 38987447 1.37 [{'connected_gene': 'PPIE', 'score': 65.57}, {'connected_gene': 'PPIEL', 'score': 62.21}, {'connected_gene': 'TRIT1', 'score': 58.97}, {'connected_gene': 'SF3A3', 'score': 48.03}, {'connected_gene': 'NDUFS5', 'score': 22.62}, {'connected_gene': 'MYCBP', 'score': 12.62}, {'connected_gene': 'RRAGC', 'score': 11.92}, {'connected_gene': 'ENSG00000182109', 'score': 11.24}, {'connected_gene': 'LOC101929516', 'score': 10.65}, {'connected_gene': 'AKIRIN1', 'score': 0.44}, {'connected_gene': 'EIF1P2', 'score': 0.31}, {'connected_gene': 'GC01M038902', 'score': 0.26}]
chr1 GH01I038137 38137974 38139523 1.02 [{'connected_gene': 'GC01P038138', 'score': 550.77}, {'connected_gene': 'SNIP1', 'score': 16.99}, {'connected_gene': 'SF3A3', 'score': 16.08}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'FTH1P1', 'score': 11.13}, {'connected_gene': 'GNL2', 'score': 9.66}, {'connected_gene': 'LOC105378655', 'score': 0.77}]
chr1 GH01I037326 37326200 37326349 0.54 [{'connected_gene': 'ENSG00000223944', 'score': 550.77}, {'connected_gene': 'SNIP1', 'score': 15.32}, {'connected_gene': 'SF3A3', 'score': 14.22}, {'connected_gene': 'FTH1P1', 'score': 10.25}, {'connected_gene': 'LINC01137', 'score': 6.04}, {'connected_gene': 'RPS29P6', 'score': 0.77}]
chr1 GH01I038815 38815265 38817033 1.01 [{'connected_gene': 'ENSG00000284632', 'score': 550.77}, {'connected_gene': 'PPIEL', 'score': 17.84}, {'connected_gene': 'PPIE', 'score': 13.14}, {'connected_gene': 'ENSG00000182109', 'score': 13.07}, {'connected_gene': 'MYCBP', 'score': 10.12}, {'connected_gene': 'GJA9', 'score': 10.11}, {'connected_gene': 'SF3A3', 'score': 9.68}, {'connected_gene': 'PIR38410', 'score': 0.34}, {'connected_gene': 'GC01M038840', 'score': 0.34}]

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