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
ENST00000445105 [[191857183, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192445112], [192445272, 192445388]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]]
ENST00000264730 [[191859683, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]]
ENST00000454309 [[191860297, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192125813, 192126838]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192125813, 192126012]]
ENST00000440901 [[191861387, 191861916], [191888246, 191888445], [191986439, 191986538]] [[191861797, 191861916], [191888246, 191888445], [191986439, 191986538]]
ENST00000450716 [[191861766, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192445112], [192485492, 192485553]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]]
ENST00000430714 [[191861776, 191861916], [191888246, 191888445], [192053149, 192053253], [192444969, 192445112], [192445272, 192445289]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192444969, 192444982]]
ENST00000448795 [[191861848, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192445272, 192445330]] [[191861848, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078268]]
ENST00000418610 [[191888352, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192445314]] [[191888352, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]]
ENST00000466144 [[192390754, 192391059], [192444969, 192445112], [192445272, 192445376]] None
ENST00000491636 [[192444670, 192445112], [192445272, 192445376]] None
NM_021032 [[191857181, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192125813, 192126838]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192125813, 192126012]]
NM_004113 [[191857181, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192445112], [192445272, 192445388]] [[191861797, 191861916], [191888246, 191888445], [192053149, 192053253], [192078216, 192078327], [192444969, 192444982]]
Promoter
Chrom Start End Description
chr3 192126182 192126193 CAGE_peak_11_at_FGF12_5end
chr3 192126203 192126215 CAGE_peak_7_at_FGF12_5end
chr3 192127275 192127299 CAGE_peak_6_at_FGF12_5end
chr3 192127302 192127328 CAGE_peak_2_at_FGF12_5end
chr3 192127333 192127358 CAGE_peak_3_at_FGF12_5end
chr3 192445212 192445229 CAGE_peak_5_at_FGF12_5end
chr3 192445319 192445395 CAGE_peak_1_at_FGF12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I191903 191903202 191903508 0.27 [{'connected_gene': 'FGF12', 'score': 11.82}, {'connected_gene': 'PYDC2', 'score': 3.95}, {'connected_gene': 'LOC100129725', 'score': 0.25}, {'connected_gene': 'LOC105374276', 'score': 0.16}]
chr3 GH03I192037 192037103 192045422 0.74 [{'connected_gene': 'FGF12', 'score': 4.74}, {'connected_gene': 'LOC105374277', 'score': 0.77}, {'connected_gene': 'RN7SKP222', 'score': 0.23}]
chr3 GH03I192274 192273552 192273701 0.56 [{'connected_gene': 'FGF12', 'score': 5.04}, {'connected_gene': 'FGF12-AS1', 'score': 0.28}, {'connected_gene': 'GC03M192418', 'score': 0.11}]
chr3 GH03I192275 192275852 192276001 0.38 [{'connected_gene': 'FGF12', 'score': 5.67}, {'connected_gene': 'FGF12-AS1', 'score': 0.28}, {'connected_gene': 'GC03M192418', 'score': 0.11}]
chr3 GH03I192408 192408614 192410667 1.82 [{'connected_gene': 'FGF12', 'score': 550.05}, {'connected_gene': 'GC03M192418', 'score': 0.44}, {'connected_gene': 'FGF12-AS1', 'score': 0.09}]
chr3 GH03I192727 192727400 192728000 1.72 [{'connected_gene': 'FGF12', 'score': 560.9}, {'connected_gene': 'RNU1-20P', 'score': 0.77}, {'connected_gene': 'GC03P192681', 'score': 0.25}]
chr3 GH03I192699 192699494 192700133 0.2 [{'connected_gene': 'FGF12', 'score': 10.53}, {'connected_gene': 'GC03P192681', 'score': 0.37}, {'connected_gene': 'RNU1-20P', 'score': 0.31}]
chr3 GH03I192722 192722249 192722853 0.2 [{'connected_gene': 'FGF12', 'score': 10.89}, {'connected_gene': 'RNU1-20P', 'score': 0.44}, {'connected_gene': 'GC03P192681', 'score': 0.26}]
chr3 GH03I192706 192706250 192707748 0.31 [{'connected_gene': 'FGF12', 'score': 11.42}, {'connected_gene': 'RNU1-20P', 'score': 0.34}, {'connected_gene': 'GC03P192681', 'score': 0.31}]
chr3 GH03I192710 192710471 192711149 0.2 [{'connected_gene': 'FGF12', 'score': 11.63}, {'connected_gene': 'RNU1-20P', 'score': 0.37}, {'connected_gene': 'GC03P192681', 'score': 0.31}]
chr3 GH03I192714 192714676 192715371 0.2 [{'connected_gene': 'FGF12', 'score': 10.06}, {'connected_gene': 'RNU1-20P', 'score': 0.39}, {'connected_gene': 'GC03P192681', 'score': 0.29}]
chr3 GH03I192704 192704777 192706109 0.2 [{'connected_gene': 'FGF12', 'score': 11.42}, {'connected_gene': 'GC03P192681', 'score': 0.34}, {'connected_gene': 'RNU1-20P', 'score': 0.34}]
chr3 GH03I192708 192708506 192708798 0.2 [{'connected_gene': 'FGF12', 'score': 11.84}, {'connected_gene': 'RNU1-20P', 'score': 0.34}, {'connected_gene': 'GC03P192681', 'score': 0.31}]
chr3 GH03I192715 192715519 192717441 0.2 [{'connected_gene': 'FGF12', 'score': 10.06}, {'connected_gene': 'RNU1-20P', 'score': 0.39}, {'connected_gene': 'GC03P192681', 'score': 0.29}]
chr3 GH03I192713 192713422 192714059 0.2 [{'connected_gene': 'FGF12', 'score': 10.03}, {'connected_gene': 'RNU1-20P', 'score': 0.37}, {'connected_gene': 'GC03P192681', 'score': 0.29}]
chr3 GH03I191925 191925604 191929981 0.38 [{'connected_gene': 'FGF12', 'score': 13.9}, {'connected_gene': 'LOC100129725', 'score': 0.34}, {'connected_gene': 'LOC105374276', 'score': 0.13}]
chr3 GH03I191915 191915380 191916599 0.2 [{'connected_gene': 'FGF12', 'score': 5.42}, {'connected_gene': 'LOC100129725', 'score': 0.28}, {'connected_gene': 'LOC105374276', 'score': 0.14}]
chr3 GH03I192592 192592895 192593562 0.2 [{'connected_gene': 'FGF12', 'score': 10.67}, {'connected_gene': 'ENSG00000238902', 'score': 0.22}, {'connected_gene': 'GC03P192681', 'score': 0.17}]
chr3 GH03I192615 192615099 192615239 0.22 [{'connected_gene': 'FGF12', 'score': 1.98}, {'connected_gene': 'GC03P192681', 'score': 0.2}, {'connected_gene': 'ENSG00000238902', 'score': 0.18}]
chr3 GH03I192671 192671644 192673363 0.2 [{'connected_gene': 'FGF12', 'score': 10.51}, {'connected_gene': 'GC03P192681', 'score': 0.44}, {'connected_gene': 'ENSG00000238902', 'score': 0.12}]
chr3 GH03I191959 191959018 191963892 0.69 [{'connected_gene': 'FGF12', 'score': 15.3}, {'connected_gene': 'ENSG00000237653', 'score': 0.44}, {'connected_gene': 'ENSG00000232353', 'score': 0.2}]
chr3 GH03I192875 192875492 192882735 1.31 [{'connected_gene': 'MB21D2', 'score': 34.16}, {'connected_gene': 'VEZF1P1', 'score': 9.56}, {'connected_gene': 'FGF12', 'score': 0.14}]
chr3 GH03I192839 192839826 192842349 0.43 [{'connected_gene': 'MB21D2', 'score': 15.79}, {'connected_gene': 'VEZF1P1', 'score': 9.09}, {'connected_gene': 'FGF12', 'score': 0.19}]
chr3 GH03I192883 192883062 192903603 1.75 [{'connected_gene': 'MB21D2', 'score': 40.72}, {'connected_gene': 'VEZF1P1', 'score': 9.57}, {'connected_gene': 'FGF12', 'score': 0.13}]
chr3 GH03I192868 192868312 192868378 0.2 [{'connected_gene': 'MB21D2', 'score': 0.25}, {'connected_gene': 'FGF12', 'score': 0.15}]
chr3 GH03I192906 192906172 192909075 0.99 [{'connected_gene': 'MB21D2', 'score': 24.57}, {'connected_gene': 'FGF12', 'score': 0.12}]
chr3 GH03I192846 192846822 192853303 1.22 [{'connected_gene': 'MB21D2', 'score': 22.7}, {'connected_gene': 'FGF12', 'score': 0.18}]
chr3 GH03I192869 192869400 192870000 0.85 [{'connected_gene': 'MB21D2', 'score': 12.15}, {'connected_gene': 'FGF12', 'score': 0.15}]
chr3 GH03I192817 192817138 192821901 1.1 [{'connected_gene': 'MB21D2', 'score': 16.35}, {'connected_gene': 'FGF12', 'score': 0.23}]
chr3 GH03I192904 192904146 192906051 0.49 [{'connected_gene': 'MB21D2', 'score': 19.23}, {'connected_gene': 'FGF12', 'score': 0.12}]
chr3 GH03I192874 192874223 192875136 0.31 [{'connected_gene': 'MB21D2', 'score': 23.56}, {'connected_gene': 'FGF12', 'score': 0.14}]
chr3 GH03I192835 192835809 192836869 0.69 [{'connected_gene': 'MB21D2', 'score': 17.98}, {'connected_gene': 'FGF12', 'score': 0.2}]
chr3 GH03I192844 192844812 192845861 0.46 [{'connected_gene': 'MB21D2', 'score': 17.92}, {'connected_gene': 'FGF12', 'score': 0.18}]
chr3 GH03I192829 192829895 192834684 1.11 [{'connected_gene': 'MB21D2', 'score': 22.55}, {'connected_gene': 'FGF12', 'score': 0.21}]
chr3 GH03I192862 192862512 192862661 0.49 [{'connected_gene': 'MB21D2', 'score': 11.21}, {'connected_gene': 'FGF12', 'score': 0.16}]
chr3 GH03I192913 192913661 192919108 2.48 [{'connected_gene': 'MB21D2', 'score': 569.85}, {'connected_gene': 'FGF12', 'score': 0.11}]
chr3 GH03I192825 192825601 192826200 1.1 [{'connected_gene': 'MB21D2', 'score': 11.42}, {'connected_gene': 'FGF12', 'score': 0.22}]
chr3 GH03I192494 192494292 192494441 0.2 [{'connected_gene': 'FGF12-AS3', 'score': 11.36}, {'connected_gene': 'GC03M192418', 'score': 0.19}, {'connected_gene': 'FGF12', 'score': 0.06}]
chr3 GH03I192513 192513999 192515946 1 [{'connected_gene': 'FGF12-AS3', 'score': 550.77}, {'connected_gene': 'FGF12-AS2', 'score': 550.77}, {'connected_gene': 'FGF12', 'score': 0.07}]
chr3 GH03I192167 192167161 192167178 0.23 [{'connected_gene': 'FGF12-AS1', 'score': 10.26}, {'connected_gene': 'FGF12', 'score': 1.5}, {'connected_gene': 'GC03M192209', 'score': 0.26}, {'connected_gene': 'RN7SKP222', 'score': 0.19}]
chr3 GH03I192273 192273712 192273861 0.56 [{'connected_gene': 'FGF12-AS1', 'score': 0.28}, {'connected_gene': 'GC03M192418', 'score': 0.11}, {'connected_gene': 'FGF12', 'score': 0.04}]
chr3 GH03I192444 192444612 192444781 0.65 [{'connected_gene': 'FGF12-AS1', 'score': 10.4}, {'connected_gene': 'GC03M192418', 'score': 0.31}, {'connected_gene': 'FGF12-AS3', 'score': 0.19}, {'connected_gene': 'FGF12', 'score': 0.05}]
chr3 GH03I192719 192719827 192721296 0.31 [{'connected_gene': 'RNU1-20P', 'score': 0.44}, {'connected_gene': 'GC03P192681', 'score': 0.28}, {'connected_gene': 'FGF12', 'score': 0.25}]
chr3 GH03I192746 192746804 192747861 0.38 [{'connected_gene': 'RNU1-20P', 'score': 0.37}, {'connected_gene': 'FGF12', 'score': 0.34}]
chr3 GH03I192718 192718273 192718824 0.2 [{'connected_gene': 'RNU1-20P', 'score': 0.39}, {'connected_gene': 'GC03P192681', 'score': 0.28}, {'connected_gene': 'FGF12', 'score': 0.25}]
chr3 GH03I192668 192668209 192668841 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.39}, {'connected_gene': 'FGF12', 'score': 0.15}, {'connected_gene': 'ENSG00000238902', 'score': 0.12}]
chr3 GH03I192597 192597294 192598621 0.94 [{'connected_gene': 'ENSG00000238902', 'score': 0.21}, {'connected_gene': 'GC03P192681', 'score': 0.18}, {'connected_gene': 'FGF12', 'score': 0.1}]
chr3 GH03I192641 192641878 192642586 0.38 [{'connected_gene': 'GC03P192681', 'score': 0.28}, {'connected_gene': 'ENSG00000238902', 'score': 0.14}, {'connected_gene': 'FGF12', 'score': 0.13}]
chr3 GH03I192657 192657946 192658722 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.34}, {'connected_gene': 'FGF12', 'score': 0.14}, {'connected_gene': 'ENSG00000238902', 'score': 0.13}]
chr3 GH03I192676 192676754 192682364 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.77}, {'connected_gene': 'FGF12', 'score': 0.17}, {'connected_gene': 'ENSG00000238902', 'score': 0.11}]
chr3 GH03I192655 192655094 192657140 0.54 [{'connected_gene': 'GC03P192681', 'score': 0.31}, {'connected_gene': 'FGF12', 'score': 0.14}, {'connected_gene': 'ENSG00000238902', 'score': 0.13}]
chr3 GH03I192675 192675498 192676645 0.31 [{'connected_gene': 'GC03P192681', 'score': 0.44}, {'connected_gene': 'FGF12', 'score': 0.16}, {'connected_gene': 'ENSG00000238902', 'score': 0.11}]
chr3 GH03I192610 192610321 192611231 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.19}, {'connected_gene': 'ENSG00000238902', 'score': 0.18}, {'connected_gene': 'FGF12', 'score': 0.1}]
chr3 GH03I192661 192661719 192662780 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.37}, {'connected_gene': 'FGF12', 'score': 0.14}, {'connected_gene': 'ENSG00000238902', 'score': 0.13}]
chr3 GH03I192623 192623075 192624071 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.22}, {'connected_gene': 'ENSG00000238902', 'score': 0.17}, {'connected_gene': 'FGF12', 'score': 0.11}]
chr3 GH03I192651 192651665 192653599 0.52 [{'connected_gene': 'GC03P192681', 'score': 0.31}, {'connected_gene': 'FGF12', 'score': 0.13}, {'connected_gene': 'ENSG00000238902', 'score': 0.13}]
chr3 GH03I192606 192606661 192607695 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.19}, {'connected_gene': 'ENSG00000238902', 'score': 0.19}, {'connected_gene': 'FGF12', 'score': 0.1}]
chr3 GH03I192642 192642597 192643053 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.28}, {'connected_gene': 'ENSG00000238902', 'score': 0.14}, {'connected_gene': 'FGF12', 'score': 0.13}]
chr3 GH03I192636 192636012 192638187 0.31 [{'connected_gene': 'GC03P192681', 'score': 0.26}, {'connected_gene': 'ENSG00000238902', 'score': 0.15}, {'connected_gene': 'FGF12', 'score': 0.12}]
chr3 GH03I192608 192608441 192609943 0.38 [{'connected_gene': 'GC03P192681', 'score': 0.19}, {'connected_gene': 'ENSG00000238902', 'score': 0.18}, {'connected_gene': 'FGF12', 'score': 0.1}]
chr3 GH03I192570 192570802 192571800 0.86 [{'connected_gene': 'ENSG00000238902', 'score': 0.28}, {'connected_gene': 'GC03P192681', 'score': 0.14}, {'connected_gene': 'FGF12', 'score': 0.08}]
chr3 GH03I192611 192611484 192612319 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.2}, {'connected_gene': 'ENSG00000238902', 'score': 0.18}, {'connected_gene': 'FGF12', 'score': 0.1}]
chr3 GH03I192181 192181637 192181649 0.22 [{'connected_gene': 'GC03M192209', 'score': 0.31}, {'connected_gene': 'RN7SKP222', 'score': 0.17}, {'connected_gene': 'FGF12', 'score': 0.03}]
chr3 GH03I192155 192155202 192155588 0.64 [{'connected_gene': 'GC03M192209', 'score': 0.23}, {'connected_gene': 'RN7SKP222', 'score': 0.21}, {'connected_gene': 'FGF12', 'score': 0.03}]
chr3 GH03I192417 192417132 192417281 0.46 [{'connected_gene': 'GC03M192418', 'score': 0.77}, {'connected_gene': 'FGF12-AS1', 'score': 0.1}, {'connected_gene': 'FGF12', 'score': 0.05}]
chr3 GH03I192686 192686977 192688529 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.44}, {'connected_gene': 'RNU1-20P', 'score': 0.26}, {'connected_gene': 'FGF12', 'score': 0.18}]
chr3 GH03I192696 192696309 192696585 0.42 [{'connected_gene': 'GC03P192681', 'score': 0.39}, {'connected_gene': 'RNU1-20P', 'score': 0.29}, {'connected_gene': 'FGF12', 'score': 0.19}]
chr3 GH03I192682 192682508 192684652 0.38 [{'connected_gene': 'GC03P192681', 'score': 550.77}, {'connected_gene': 'RNU1-20P', 'score': 0.25}, {'connected_gene': 'FGF12', 'score': 0.18}]
chr3 GH03I192685 192685235 192686738 0.43 [{'connected_gene': 'GC03P192681', 'score': 0.77}, {'connected_gene': 'RNU1-20P', 'score': 0.26}, {'connected_gene': 'FGF12', 'score': 0.18}]
chr3 GH03I192694 192694664 192695132 0.2 [{'connected_gene': 'GC03P192681', 'score': 0.39}, {'connected_gene': 'RNU1-20P', 'score': 0.29}, {'connected_gene': 'FGF12', 'score': 0.19}]