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
ENST00000393805 [[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86114529, 86114672]] [[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090606]]
ENST00000377332 [[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116137]] [[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000306262 [[86073616, 86073686], [86074983, 86075504], [86088303, 86088415], [86090484, 86090608], [86115946, 86116034]] [[86075483, 86075504], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000455892 [[86075143, 86075327], [86088303, 86088415], [86090484, 86090608], [86115399, 86115509]] [[86075143, 86075327], [86088303, 86088415], [86090484, 86090606]]
ENST00000433665 [[86075273, 86075327], [86088303, 86088415], [86090484, 86090608], [86097194, 86097381], [86115946, 86116109]] [[86097319, 86097381], [86115946, 86116028]]
ENST00000525834 [[86078390, 86078826], [86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116031]] [[86078713, 86078826], [86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
ENST00000473122 [[86078630, 86078826], [86088303, 86088415], [86090484, 86090608], [86115946, 86116000]] None
ENST00000461892 [[86079982, 86080214], [86088303, 86088415], [86090484, 86090608], [86115946, 86116031]] None
ENST00000461199 [[86080030, 86080220], [86088303, 86088415], [86090484, 86090608], [86115946, 86116033]] None
ENST00000484728 [[86088044, 86088415], [86090484, 86090608], [86115946, 86116034]] None
ENST00000393808 [[86066266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094777]] [[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094740]]
ENST00000461206 [[86066271, 86067515], [86071518, 86071677], [86073499, 86073686], [86074504, 86074685], [86074983, 86076699]] None
ENST00000487896 [[86078542, 86078826], [86079982, 86080236]] None
ENST00000490946 [[86090484, 86090608], [86092980, 86093323]] None
NM_003896 [[86066270, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116157]] [[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86115946, 86116028]]
NM_001042437 [[86066271, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094793]] [[86067266, 86067515], [86071518, 86071677], [86073499, 86073686], [86074983, 86075327], [86088303, 86088415], [86090484, 86090608], [86094727, 86094740]]
Promoter
Chrom Start End Description
chr2 86080280 86080285 CAGE_peak_7_at_ST3GAL5_5end
chr2 86080391 86080428 CAGE_peak_5_at_ST3GAL5_5end
chr2 86094764 86094796 CAGE_peak_9_at_ST3GAL5_5end
chr2 86115979 86116012 CAGE_peak_3_at_ST3GAL5_5end
chr2 86116020 86116039 CAGE_peak_2_at_ST3GAL5_5end
chr2 86116093 86116172 CAGE_peak_1_at_ST3GAL5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085867 85867660 85867719 0.81 [{'connected_gene': 'ST3GAL5', 'score': 550.28}, {'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02M085830', 'score': 0.31}]
chr2 GH02I084940 84940801 84941000 0.51 [{'connected_gene': 'ST3GAL5', 'score': 4.8}, {'connected_gene': 'GC02M084928', 'score': 0.39}, {'connected_gene': 'LOC105374838', 'score': 0.39}, {'connected_gene': 'GC02M084965', 'score': 0.31}]
chr2 GH02I085885 85885939 85891131 2.57 [{'connected_gene': 'ST3GAL5', 'score': 560.51}, {'connected_gene': 'ST3GAL5-AS1', 'score': 556.75}, {'connected_gene': 'GC02M085889', 'score': 550.77}, {'connected_gene': 'GC02M085888', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 18.04}, {'connected_gene': 'MAT2A', 'score': 12.42}, {'connected_gene': 'TCF7L1', 'score': 11.93}, {'connected_gene': 'LOC284950', 'score': 11.68}, {'connected_gene': 'ELMOD3', 'score': 11.49}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'POLR1A', 'score': 9.81}, {'connected_gene': 'GNLY', 'score': 1.77}, {'connected_gene': 'CAPG', 'score': 1.19}, {'connected_gene': 'GC02P085883', 'score': 0.44}]
chr2 GH02I085926 85926037 85926227 0.31 [{'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2 GH02I085910 85910751 85910827 0.76 [{'connected_gene': 'ST3GAL5', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2 GH02I085927 85926924 85927123 0.31 [{'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2 GH02I085871 85871369 85875023 0.59 [{'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'POLR1A', 'score': 8.64}, {'connected_gene': 'MRPL35', 'score': 5.61}, {'connected_gene': 'ENSG00000272564', 'score': 5.03}, {'connected_gene': 'IMMT', 'score': 4.86}, {'connected_gene': 'LOC284950', 'score': 4.68}, {'connected_gene': 'REEP1', 'score': 4.38}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.29}]
chr2 GH02I085920 85920999 85923027 1.28 [{'connected_gene': 'SNORD94', 'score': 19.48}, {'connected_gene': 'LOC284950', 'score': 10.53}, {'connected_gene': 'RNU1-38P', 'score': 9.99}, {'connected_gene': 'MAT2A', 'score': 9.91}, {'connected_gene': 'ST3GAL5-AS1', 'score': 4.91}, {'connected_gene': 'ST3GAL5', 'score': 4.5}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2 GH02I085875 85875401 85876400 0.67 [{'connected_gene': 'REEP1', 'score': 4.37}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.31}]
chr2 GH02I085896 85896499 85906432 0.75 [{'connected_gene': 'MRPL35', 'score': 9.42}, {'connected_gene': 'POLR1A', 'score': 8.66}, {'connected_gene': 'IMMT', 'score': 7.6}, {'connected_gene': 'ST3GAL5-AS1', 'score': 7.07}, {'connected_gene': 'ENSG00000272564', 'score': 5.51}, {'connected_gene': 'ST3GAL5', 'score': 4.88}, {'connected_gene': 'GC02P085883', 'score': 0.37}]
chr2 GH02I085933 85933538 85937571 1.44 [{'connected_gene': 'LOC284950', 'score': 10.1}, {'connected_gene': 'IMMT', 'score': 8.68}, {'connected_gene': 'ENSG00000273080', 'score': 5.84}, {'connected_gene': 'POLR1A', 'score': 5.35}, {'connected_gene': 'MRPL35', 'score': 4.79}, {'connected_gene': 'ST3GAL5', 'score': 4.63}, {'connected_gene': 'GC02P085952', 'score': 0.37}, {'connected_gene': 'GC02P085883', 'score': 0.23}]
chr2 GH02I085918 85918060 85919262 0.38 [{'connected_gene': 'LOC284950', 'score': 10.46}, {'connected_gene': 'IMMT', 'score': 6.4}, {'connected_gene': 'ST3GAL5-AS1', 'score': 5.7}, {'connected_gene': 'MRPL35', 'score': 4.75}, {'connected_gene': 'ST3GAL5', 'score': 0.39}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2 GH02I085865 85865341 85865977 0.9 [{'connected_gene': 'LOC284950', 'score': 11.48}, {'connected_gene': 'RNU1-38P', 'score': 10.43}, {'connected_gene': 'GC02M085870', 'score': 0.77}, {'connected_gene': 'GC02M085871', 'score': 0.77}, {'connected_gene': 'GC02M085830', 'score': 0.31}, {'connected_gene': 'ST3GAL5', 'score': 0.28}]
chr2 GH02I085859 85859954 85863531 1.14 [{'connected_gene': 'LOC284950', 'score': 11.28}, {'connected_gene': 'RNU1-38P', 'score': 11.0}, {'connected_gene': 'ATOH8', 'score': 10.93}, {'connected_gene': 'POLR1A', 'score': 8.58}, {'connected_gene': 'ENSG00000272564', 'score': 4.88}, {'connected_gene': 'IMMT', 'score': 4.87}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'GC02M085830', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.26}]
chr2 GH02I085850 85850340 85855857 1.18 [{'connected_gene': 'IMMT', 'score': 6.34}, {'connected_gene': 'ENSG00000272564', 'score': 6.2}, {'connected_gene': 'POLR1A', 'score': 4.97}, {'connected_gene': 'GC02M085830', 'score': 0.39}, {'connected_gene': 'GC02M085870', 'score': 0.37}, {'connected_gene': 'GC02M085871', 'score': 0.37}, {'connected_gene': 'ST3GAL5', 'score': 0.23}]
chr2 GH02I085923 85923942 85925606 1.09 [{'connected_gene': 'USP39', 'score': 24.59}, {'connected_gene': 'KDM3A', 'score': 21.79}, {'connected_gene': 'LOC105374845', 'score': 20.36}, {'connected_gene': 'C2orf68', 'score': 14.7}, {'connected_gene': 'TCF7L1', 'score': 12.71}, {'connected_gene': 'LOC100996506', 'score': 11.85}, {'connected_gene': 'SNORD94', 'score': 10.13}, {'connected_gene': 'MRPL35', 'score': 4.78}, {'connected_gene': 'ST3GAL5', 'score': 0.37}, {'connected_gene': 'GC02P085952', 'score': 0.31}, {'connected_gene': 'GC02P085883', 'score': 0.26}]
chr2 GH02I085877 85877249 85880594 0.43 [{'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'MRPL35', 'score': 5.56}, {'connected_gene': 'IMMT', 'score': 4.92}, {'connected_gene': 'POLR1A', 'score': 4.62}, {'connected_gene': 'GC02P085883', 'score': 0.77}, {'connected_gene': 'GC02M085870', 'score': 0.44}, {'connected_gene': 'GC02M085871', 'score': 0.44}, {'connected_gene': 'ST3GAL5', 'score': 0.31}]
chr2 GH02I085892 85892666 85895652 1.31 [{'connected_gene': 'ST3GAL5-AS1', 'score': 6.75}, {'connected_gene': 'ST3GAL5', 'score': 6.12}, {'connected_gene': 'POLR1A', 'score': 4.69}, {'connected_gene': 'ENSG00000272564', 'score': 4.44}, {'connected_gene': 'GC02P085883', 'score': 0.39}]
chr2 GH02I085907 85907192 85909654 0.89 [{'connected_gene': 'ST3GAL5-AS1', 'score': 7.04}, {'connected_gene': 'ENSG00000272564', 'score': 5.5}, {'connected_gene': 'ST3GAL5', 'score': 0.77}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2 GH02I085919 85919778 85920625 0.31 [{'connected_gene': 'ST3GAL5-AS1', 'score': 5.14}, {'connected_gene': 'ST3GAL5', 'score': 0.37}, {'connected_gene': 'GC02P085952', 'score': 0.29}, {'connected_gene': 'GC02P085883', 'score': 0.28}]
chr2 GH02I085929 85929507 85930817 0.54 [{'connected_gene': 'ST3GAL5-AS1', 'score': 5.14}, {'connected_gene': 'GC02P085952', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.34}, {'connected_gene': 'GC02P085883', 'score': 0.25}]
chr2 GH02I085914 85914450 85916582 0.66 [{'connected_gene': 'ST3GAL5-AS1', 'score': 6.99}, {'connected_gene': 'POLR1A', 'score': 4.81}, {'connected_gene': 'ST3GAL5', 'score': 0.39}, {'connected_gene': 'GC02P085883', 'score': 0.29}, {'connected_gene': 'GC02P085952', 'score': 0.28}]
chr2 GH02I085911 85911150 85914429 1.1 [{'connected_gene': 'ST3GAL5-AS1', 'score': 6.79}, {'connected_gene': 'POLR1A', 'score': 6.56}, {'connected_gene': 'ENSG00000272564', 'score': 5.12}, {'connected_gene': 'MRPL35', 'score': 4.91}, {'connected_gene': 'ENSG00000273080', 'score': 4.32}, {'connected_gene': 'ST3GAL5', 'score': 0.44}, {'connected_gene': 'GC02P085883', 'score': 0.31}, {'connected_gene': 'GC02P085952', 'score': 0.26}]
chr2 GH02I085846 85846558 85846747 0.4 [{'connected_gene': 'GC02M085830', 'score': 0.44}, {'connected_gene': 'GC02M085870', 'score': 0.34}, {'connected_gene': 'GC02M085871', 'score': 0.34}, {'connected_gene': 'ST3GAL5', 'score': 0.22}]
chr2 GH02I085869 85869339 85870806 0.2 [{'connected_gene': 'GC02M085870', 'score': 550.77}, {'connected_gene': 'GC02M085871', 'score': 550.77}, {'connected_gene': 'ATOH8', 'score': 10.92}, {'connected_gene': 'RNU1-38P', 'score': 10.79}, {'connected_gene': 'IMMT', 'score': 4.75}, {'connected_gene': 'ENSG00000272564', 'score': 4.68}, {'connected_gene': 'POLR1A', 'score': 4.5}, {'connected_gene': 'GC02M085830', 'score': 0.31}, {'connected_gene': 'ST3GAL5', 'score': 0.28}]
chr2 GH02I085840 85840084 85840661 0.89 [{'connected_gene': 'GC02M085830', 'score': 550.77}, {'connected_gene': 'LOC284950', 'score': 12.0}, {'connected_gene': 'ATOH8', 'score': 10.98}, {'connected_gene': 'RN7SKP83', 'score': 0.37}, {'connected_gene': 'ST3GAL5', 'score': 0.21}]
chr2 GH02I085951 85951778 85953786 0.87 [{'connected_gene': 'GC02P085952', 'score': 550.77}, {'connected_gene': 'IMMT', 'score': 9.29}, {'connected_gene': 'ENSG00000273080', 'score': 6.54}, {'connected_gene': 'MRPL35', 'score': 5.41}, {'connected_gene': 'ST3GAL5', 'score': 0.25}, {'connected_gene': 'GC02P085883', 'score': 0.2}]
chr2 GH02I085883 85883293 85885647 0.38 [{'connected_gene': 'GC02P085883', 'score': 550.77}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'ENSG00000272564', 'score': 5.05}, {'connected_gene': 'POLR1A', 'score': 4.62}, {'connected_gene': 'REEP1', 'score': 4.42}, {'connected_gene': 'GC02M085889', 'score': 0.77}, {'connected_gene': 'GC02M085888', 'score': 0.77}, {'connected_gene': 'ST3GAL5', 'score': 0.34}]