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
ENST00000288368 [[68864352, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69020343, 69020566], [69021650, 69021858], [69027987, 69028167], [69030784, 69030879], [69031666, 69031749], [69032430, 69032521], [69033155, 69033284], [69039612, 69039654], [69046293, 69046511], [69050649, 69050752], [69058443, 69058587], [69069556, 69069671], [69103956, 69104023], [69104569, 69104760], [69129850, 69129953], [69136793, 69136861], [69143567, 69149265]] [[68864629, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69020343, 69020566], [69021650, 69021858], [69027987, 69028167], [69030784, 69030879], [69031666, 69031749], [69032430, 69032521], [69033155, 69033284], [69039612, 69039654], [69046293, 69046511], [69050649, 69050752], [69058443, 69058587], [69069556, 69069671], [69103956, 69104023], [69104569, 69104760], [69129850, 69129953], [69136793, 69136861], [69143567, 69143613]]
ENST00000529398 [[68864602, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69017372, 69018242]] None
ENST00000517617 [[68864723, 68864770], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69020343, 69020566], [69021650, 69021858], [69023166, 69023324]] None
ENST00000522247 [[69069609, 69069671], [69103956, 69104023], [69104569, 69104865]] None
ENST00000520235 [[69069641, 69069671], [69103956, 69104023], [69104569, 69104760], [69129850, 69129953], [69132410, 69132585]] None
NM_025170 [[68864349, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69017372, 69018242]] [[68864629, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69017372, 69017597]]
NM_024870 [[68864349, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69020343, 69020566], [69021650, 69021858], [69027987, 69028167], [69030784, 69030879], [69031666, 69031749], [69032430, 69032521], [69033155, 69033284], [69039612, 69039654], [69046293, 69046511], [69050649, 69050752], [69058443, 69058587], [69069556, 69069671], [69103956, 69104023], [69104569, 69104760], [69129850, 69129953], [69136793, 69136861], [69143567, 69149268]] [[68864629, 68864770], [68930080, 68930152], [68931783, 68931906], [68934270, 68934375], [68939456, 68939558], [68942731, 68942893], [68950393, 68950527], [68956721, 68956825], [68965331, 68965481], [68968064, 68968209], [68972913, 68973014], [68981267, 68981371], [68982069, 68982119], [68984729, 68984805], [68989631, 68989704], [68992677, 68992820], [68992980, 68993073], [68995474, 68995623], [68999958, 69000044], [69002813, 69002950], [69005839, 69005957], [69009251, 69009436], [69011916, 69012078], [69020343, 69020566], [69021650, 69021858], [69027987, 69028167], [69030784, 69030879], [69031666, 69031749], [69032430, 69032521], [69033155, 69033284], [69039612, 69039654], [69046293, 69046511], [69050649, 69050752], [69058443, 69058587], [69069556, 69069671], [69103956, 69104023], [69104569, 69104760], [69129850, 69129953], [69136793, 69136861], [69143567, 69143613]]
Promoter
Chrom Start End Description
chr8 68864009 68864037 CAGE_peak_6_at_PREX2_5end
chr8 68864042 68864056 CAGE_peak_11_at_PREX2_5end
chr8 68864183 68864197 CAGE_peak_7_at_PREX2_5end
chr8 68864231 68864243 CAGE_peak_8_at_PREX2_5end
chr8 68864263 68864328 CAGE_peak_2_at_PREX2_5end
chr8 68864330 68864361 CAGE_peak_3_at_PREX2_5end
chr8 68864466 68864478 CAGE_peak_10_at_PREX2_5end
chr8 68864487 68864512 CAGE_peak_4_at_PREX2_5end
chr8 68864580 68864596 CAGE_peak_5_at_PREX2_5end
chr8 68864598 68864664 CAGE_peak_1_at_PREX2_5end
chr8 68864670 68864683 CAGE_peak_14_at_PREX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I067954 67954201 67954600 0.4 [{'connected_gene': 'PREX2', 'score': 16.66}, {'connected_gene': 'LOC105375888', 'score': 0.11}]
chr8 GH08I067993 67993738 67995622 0.31 [{'connected_gene': 'PREX2', 'score': 32.1}, {'connected_gene': 'LOC105375888', 'score': 0.15}]
chr8 GH08I067974 67974395 67975640 0.31 [{'connected_gene': 'PREX2', 'score': 27.97}, {'connected_gene': 'LOC105375888', 'score': 0.13}]
chr8 GH08I067959 67959997 67961067 0.57 [{'connected_gene': 'PREX2', 'score': 19.39}, {'connected_gene': 'LOC105375888', 'score': 0.12}]
chr8 GH08I068009 68009224 68009349 0.63 [{'connected_gene': 'PREX2', 'score': 13.13}, {'connected_gene': 'LOC105375888', 'score': 0.17}]
chr8 GH08I067977 67977843 67980473 0.31 [{'connected_gene': 'PREX2', 'score': 31.5}, {'connected_gene': 'LOC105375888', 'score': 0.13}]
chr8 GH08I067983 67983373 67986226 0.94 [{'connected_gene': 'PREX2', 'score': 22.21}, {'connected_gene': 'LOC105375888', 'score': 0.14}]
chr8 GH08I067957 67957360 67958415 0.31 [{'connected_gene': 'PREX2', 'score': 16.25}, {'connected_gene': 'LOC105375888', 'score': 0.12}]
chr8 GH08I067976 67976952 67977291 0.22 [{'connected_gene': 'PREX2', 'score': 31.22}, {'connected_gene': 'LOC105375888', 'score': 0.13}]
chr8 GH08I068022 68022266 68022415 0.46 [{'connected_gene': 'PREX2', 'score': 0.19}, {'connected_gene': 'LOC105375888', 'score': 0.19}]
chr8 GH08I067980 67980571 67980968 0.27 [{'connected_gene': 'PREX2', 'score': 11.2}, {'connected_gene': 'LOC105375888', 'score': 0.14}]
chr8 GH08I067963 67963506 67965374 0.83 [{'connected_gene': 'PREX2', 'score': 19.45}, {'connected_gene': 'ENSG00000254337', 'score': 5.49}, {'connected_gene': 'LOC105375888', 'score': 0.12}]
chr8 GH08I068014 68014195 68015894 0.57 [{'connected_gene': 'PREX2', 'score': 0.21}, {'connected_gene': 'LOC105375888', 'score': 0.18}]
chr8 GH08I067955 67954863 67955787 0.51 [{'connected_gene': 'PREX2', 'score': 0.77}, {'connected_gene': 'LOC105375888', 'score': 0.12}]
chr8 GH08I067967 67967712 67969415 1.09 [{'connected_gene': 'PREX2', 'score': 19.79}, {'connected_gene': 'LOC105375888', 'score': 0.13}]
chr8 GH08I067951 67951258 67953806 2.04 [{'connected_gene': 'PREX2', 'score': 564.55}, {'connected_gene': 'LOC100288001', 'score': 14.05}, {'connected_gene': 'ENSG00000271966', 'score': 11.32}, {'connected_gene': 'CSPP1', 'score': 10.6}, {'connected_gene': 'LOC105375888', 'score': 0.11}]
chr8 GH08I067950 67950646 67950795 0.31 [{'connected_gene': 'PREX2', 'score': 550.77}, {'connected_gene': 'PIR43650', 'score': 0.31}]
chr8 GH08I068165 68165486 68165635 0.31 [{'connected_gene': 'C8orf34-AS1', 'score': 6.94}, {'connected_gene': 'GC08P068163', 'score': 0.77}, {'connected_gene': 'ENSG00000254051', 'score': 0.39}, {'connected_gene': 'PREX2', 'score': 0.08}]
chr8 GH08I068229 68229066 68230818 0.51 [{'connected_gene': 'C8orf34', 'score': 10.46}, {'connected_gene': 'C8orf34-AS1', 'score': 10.46}, {'connected_gene': 'GC08P068234', 'score': 0.77}, {'connected_gene': 'ENSG00000252210', 'score': 0.44}, {'connected_gene': 'PREX2', 'score': 0.06}]
chr8 GH08I068182 68182119 68182310 0.48 [{'connected_gene': 'C8orf34', 'score': 10.31}, {'connected_gene': 'C8orf34-AS1', 'score': 10.31}, {'connected_gene': 'ENSG00000254051', 'score': 0.44}, {'connected_gene': 'ENSG00000252210', 'score': 0.26}, {'connected_gene': 'PREX2', 'score': 0.07}]
chr8 GH08I068071 68071146 68071295 0.72 [{'connected_gene': 'LOC105375888', 'score': 7.08}, {'connected_gene': 'PREX2', 'score': 0.13}]
chr8 GH08I068201 68201726 68201875 0.2 [{'connected_gene': 'ENSG00000252210', 'score': 0.34}, {'connected_gene': 'ENSG00000254051', 'score': 0.31}, {'connected_gene': 'PREX2', 'score': 0.07}]