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
ENST00000262643 [[30302804, 30303059], [30303438, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315215]] [[30303462, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
ENST00000575243 [[30302910, 30303059], [30303438, 30303485], [30303595, 30303683], [30303884, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312675]] [[30303462, 30303485], [30303595, 30303683], [30303884, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312675]]
ENST00000357943 [[30302910, 30303059], [30303438, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308466], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315214]] [[30303462, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308466], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
ENST00000444983 [[30303560, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315119]] [[30303617, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
ENST00000586912 [[30303631, 30303683], [30303875, 30304238]] None
ENST00000576532 [[30308109, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30313146, 30313258], [30313352, 30313510], [30314561, 30314917]] [[30308109, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
ENST00000574121 [[30312638, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315187]] None
NM_001322262 [[30302900, 30303059], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315224]] [[30303617, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
NM_001322261 [[30302900, 30303059], [30303438, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315224]] [[30303462, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
NM_001322259 [[30302900, 30303059], [30303438, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30313146, 30313258], [30313352, 30313510], [30314561, 30315224]] [[30303462, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
NM_001238 [[30302900, 30303059], [30303438, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30315224]] [[30303462, 30303485], [30303595, 30303683], [30303875, 30303944], [30308043, 30308189], [30308312, 30308448], [30311608, 30311755], [30312628, 30312724], [30312902, 30313037], [30313146, 30313258], [30313352, 30313510], [30314561, 30314684]]
Promoter
Chrom Start End Description
chr19 30302859 30302916 CAGE_peak_1_at_CCNE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I030592 30592762 30595211 0.31 [{'connected_gene': 'CCNE1', 'score': 5.22}, {'connected_gene': 'GC19P030577', 'score': 0.37}, {'connected_gene': 'GC19M030643', 'score': 0.23}, {'connected_gene': 'ZNF536', 'score': 0.05}, {'connected_gene': 'GC19P029609', 'score': 0.02}]
chr19 GH19I030587 30587060 30591739 0.52 [{'connected_gene': 'CCNE1', 'score': 4.88}, {'connected_gene': 'GC19P030577', 'score': 0.39}, {'connected_gene': 'GC19M030643', 'score': 0.23}, {'connected_gene': 'ZNF536', 'score': 0.05}, {'connected_gene': 'GC19P029609', 'score': 0.02}]
chr19 GH19I029830 29830754 29832163 0.93 [{'connected_gene': 'CCNE1', 'score': 14.9}, {'connected_gene': 'URI1', 'score': 2.16}, {'connected_gene': 'C19orf12', 'score': 1.95}, {'connected_gene': 'PLEKHF1', 'score': 1.68}, {'connected_gene': 'POP4', 'score': 1.44}, {'connected_gene': 'ENSG00000267433', 'score': 0.19}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029759 29759971 29760600 1.13 [{'connected_gene': 'CCNE1', 'score': 17.84}, {'connected_gene': 'URI1', 'score': 11.35}, {'connected_gene': 'C19orf12', 'score': 0.26}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19 GH19I029775 29774234 29774383 0.31 [{'connected_gene': 'CCNE1', 'score': 16.23}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19 GH19I029804 29804097 29807661 1.06 [{'connected_gene': 'CCNE1', 'score': 21.19}, {'connected_gene': 'ENSG00000266910', 'score': 12.49}, {'connected_gene': 'C19orf12', 'score': 0.16}, {'connected_gene': 'GC19P029609', 'score': 0.08}]
chr19 GH19I029771 29771794 29771963 0.65 [{'connected_gene': 'CCNE1', 'score': 9.21}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19 GH19I029774 29774713 29776318 0.57 [{'connected_gene': 'CCNE1', 'score': 16.22}, {'connected_gene': 'C19orf12', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.1}]
chr19 GH19I029798 29798022 29800112 0.57 [{'connected_gene': 'CCNE1', 'score': 20.55}, {'connected_gene': 'C19orf12', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.09}]
chr19 GH19I029780 29780938 29783068 0.43 [{'connected_gene': 'CCNE1', 'score': 15.69}, {'connected_gene': 'C19orf12', 'score': 0.2}, {'connected_gene': 'GC19P029609', 'score': 0.09}]
chr19 GH19I029810 29810266 29813001 2.05 [{'connected_gene': 'CCNE1', 'score': 565.33}, {'connected_gene': 'ENSG00000266910', 'score': 11.88}, {'connected_gene': 'RPL9P32', 'score': 10.71}, {'connected_gene': 'C19orf12', 'score': 0.15}, {'connected_gene': 'GC19P029609', 'score': 0.08}]
chr19 GH19I029879 29879094 29879243 0.75 [{'connected_gene': 'CCNE1', 'score': 11.35}, {'connected_gene': 'ENSG00000267433', 'score': 0.34}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029858 29858154 29858303 0.72 [{'connected_gene': 'CCNE1', 'score': 11.17}, {'connected_gene': 'ENSG00000267433', 'score': 0.26}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029849 29849134 29849283 0.2 [{'connected_gene': 'CCNE1', 'score': 0.28}, {'connected_gene': 'ENSG00000267433', 'score': 0.23}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029814 29814926 29815810 0.31 [{'connected_gene': 'CCNE1', 'score': 22.1}, {'connected_gene': 'ENSG00000267433', 'score': 0.17}, {'connected_gene': 'GC19P029609', 'score': 0.08}]
chr19 GH19I029836 29836583 29838158 0.76 [{'connected_gene': 'CCNE1', 'score': 30.13}, {'connected_gene': 'ENSG00000267433', 'score': 0.21}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029835 29835074 29835223 0.71 [{'connected_gene': 'CCNE1', 'score': 12.24}, {'connected_gene': 'ENSG00000267433', 'score': 0.2}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029848 29848934 29849063 0.2 [{'connected_gene': 'CCNE1', 'score': 0.28}, {'connected_gene': 'ENSG00000267433', 'score': 0.23}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029963 29963633 29966464 0.92 [{'connected_gene': 'URI1', 'score': 11.99}, {'connected_gene': 'CCNE1', 'score': 10.1}, {'connected_gene': 'RPL9P32', 'score': 0.44}, {'connected_gene': 'GC19P029979', 'score': 0.39}, {'connected_gene': 'GC19P029609', 'score': 0.05}]
chr19 GH19I029870 29870664 29875925 1.34 [{'connected_gene': 'URI1', 'score': 22.77}, {'connected_gene': 'CCNE1', 'score': 17.97}, {'connected_gene': 'ENSG00000267528', 'score': 5.13}, {'connected_gene': 'ENSG00000267433', 'score': 0.31}, {'connected_gene': 'GC19P029609', 'score': 0.07}]
chr19 GH19I029723 29723674 29724800 0.92 [{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.17}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19 GH19I029722 29722195 29722336 0.2 [{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.17}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19 GH19I029721 29721814 29721963 0.2 [{'connected_gene': 'C19orf12', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.16}, {'connected_gene': 'GC19P029609', 'score': 0.14}]
chr19 GH19I029730 29730574 29730743 0.74 [{'connected_gene': 'C19orf12', 'score': 0.39}, {'connected_gene': 'CCNE1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.13}]
chr19 GH19I029886 29886694 29886843 0.31 [{'connected_gene': 'ENSG00000267433', 'score': 0.37}, {'connected_gene': 'CCNE1', 'score': 0.19}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029882 29882114 29882381 0.2 [{'connected_gene': 'ENSG00000267528', 'score': 4.83}, {'connected_gene': 'ENSG00000267433', 'score': 0.37}, {'connected_gene': 'CCNE1', 'score': 0.19}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029881 29881129 29881403 0.46 [{'connected_gene': 'ENSG00000267433', 'score': 0.34}, {'connected_gene': 'CCNE1', 'score': 0.2}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029888 29888658 29889738 0.6 [{'connected_gene': 'ENSG00000267433', 'score': 0.39}, {'connected_gene': 'CCNE1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029893 29893632 29894247 0.95 [{'connected_gene': 'ENSG00000267433', 'score': 0.44}, {'connected_gene': 'CCNE1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029887 29887634 29887783 0.69 [{'connected_gene': 'ENSG00000267433', 'score': 0.39}, {'connected_gene': 'CCNE1', 'score': 0.18}, {'connected_gene': 'GC19P029609', 'score': 0.06}]
chr19 GH19I029840 29840624 29846400 1.7 [{'connected_gene': 'ENSG00000266910', 'score': 22.43}, {'connected_gene': 'RPL9P32', 'score': 20.79}, {'connected_gene': 'URI1', 'score': 10.58}, {'connected_gene': 'CCNE1', 'score': 8.7}, {'connected_gene': 'ENSG00000267433', 'score': 0.22}, {'connected_gene': 'GC19P029609', 'score': 0.07}]