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
ENST00000433119 [[13521223, 13521616], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546834]] [[13522827, 13522894], [13524963, 13525064], [13538235, 13538352], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13545977]]
ENST00000295757 [[13521664, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13547916]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000402259 [[13521781, 13521849], [13522745, 13522894], [13545593, 13545772], [13545967, 13546571]] [[13521847, 13521849], [13522745, 13522894], [13545593, 13545772], [13545967, 13546183]]
ENST00000402271 [[13521802, 13521849], [13522745, 13522894], [13524963, 13525064], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546349]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000446613 [[13521805, 13521849], [13522745, 13522894], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546456]] [[13544407, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000425430 [[13521805, 13521849], [13522745, 13522894], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546456]] [[13521847, 13521849], [13522745, 13522894], [13543370, 13543381]]
ENST00000404548 [[13521823, 13521849], [13522745, 13522894], [13524963, 13525064], [13545593, 13545772], [13545967, 13546089]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13545593, 13545772], [13545967, 13545977]]
ENST00000404040 [[13521823, 13521849], [13522745, 13522894], [13524963, 13525064], [13544383, 13544480], [13545593, 13545772], [13545967, 13546382]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000458642 [[13521832, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543129, 13543199]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543129, 13543199]]
ENST00000405478 [[13521843, 13521946], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545642]] [[13522827, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545642]]
ENST00000405025 [[13521875, 13521946], [13522745, 13522894], [13524963, 13525064], [13545593, 13545772], [13545967, 13546043]] [[13522827, 13522894], [13524963, 13525064], [13545593, 13545772], [13545967, 13545977]]
ENST00000475818 [[13521880, 13521946], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13544088]] None
ENST00000522202 [[13521910, 13521946], [13522745, 13522894], [13524963, 13525064], [13538304, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546733]] [[13522827, 13522894], [13524963, 13525064], [13538304, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000418189 [[13521956, 13522273], [13522745, 13522894], [13524963, 13525064], [13538235, 13538248]] [[13522214, 13522273], [13522745, 13522894], [13524963, 13525064], [13538235, 13538248]]
ENST00000434848 [[13522199, 13522273], [13522745, 13522894], [13524963, 13525064], [13542212, 13542289], [13543370, 13543433], [13544383, 13544439]] [[13522214, 13522273], [13522745, 13522894], [13524963, 13525064], [13542212, 13542289], [13543370, 13543433], [13544383, 13544439]]
ENST00000416248 [[13522296, 13522519], [13522745, 13522894], [13524963, 13525064], [13538235, 13538342]] [[13522827, 13522894], [13524963, 13525064], [13538235, 13538342]]
ENST00000455904 [[13522594, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544413]] [[13522827, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544413]]
ENST00000437379 [[13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13547907]] [[13522827, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
ENST00000487585 [[13522881, 13522894], [13524963, 13525064], [13542212, 13542289], [13543370, 13543433], [13544383, 13544739]] None
ENST00000498532 [[13538087, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545613]] None
ENST00000495099 [[13538325, 13538352], [13540012, 13540055], [13543370, 13543433], [13544383, 13544448]] None
NM_001330636 [[13521664, 13521849], [13522745, 13522894], [13524963, 13525064], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13547918]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
NM_024827 [[13521714, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13547924]] [[13521847, 13521849], [13522745, 13522894], [13524963, 13525064], [13538235, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
NM_001136041 [[13521843, 13521946], [13522745, 13522894], [13524963, 13525064], [13538304, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13547924]] [[13522827, 13522894], [13524963, 13525064], [13538304, 13538352], [13540012, 13540055], [13542212, 13542289], [13543370, 13543433], [13544383, 13544480], [13545593, 13545772], [13545967, 13546183]]
Promoter
Chrom Start End Description
chr3 13521775 13521829 CAGE_peak_1_at_HDAC11_5end
chr3 13521835 13521856 CAGE_peak_2_at_HDAC11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I012989 12989586 12996549 2.34 [{'connected_gene': 'IQSEC1', 'score': 14.61}, {'connected_gene': 'HDAC11', 'score': 5.33}, {'connected_gene': 'CAND2', 'score': 4.28}, {'connected_gene': 'GC03P013026', 'score': 0.31}, {'connected_gene': 'GC03M014446', 'score': 0.18}, {'connected_gene': 'PIR41577', 'score': 0.18}]
chr3 GH03I013001 13001830 13024396 1.72 [{'connected_gene': 'IQSEC1', 'score': 22.36}, {'connected_gene': 'HDAC11', 'score': 10.09}, {'connected_gene': 'HDAC11-AS1', 'score': 10.09}, {'connected_gene': 'CAND2', 'score': 4.33}, {'connected_gene': 'NUP210', 'score': 1.69}, {'connected_gene': 'RPL32', 'score': 1.26}, {'connected_gene': 'GC03P013026', 'score': 0.44}, {'connected_gene': 'GC03P013027', 'score': 0.39}, {'connected_gene': 'GC03M014446', 'score': 0.15}, {'connected_gene': 'PIR41577', 'score': 0.15}]
chr3 GH03I013233 13233601 13234200 0.54 [{'connected_gene': 'IQSEC1', 'score': 10.57}, {'connected_gene': 'HDAC11', 'score': 9.93}, {'connected_gene': 'HDAC11-AS1', 'score': 9.93}, {'connected_gene': 'GC03P013212', 'score': 0.34}, {'connected_gene': 'GC03P013057', 'score': 0.1}, {'connected_gene': 'GC03P013026', 'score': 0.08}]
chr3 GH03I013411 13411335 13411581 0.64 [{'connected_gene': 'HDAC11', 'score': 2.55}, {'connected_gene': 'IQSEC1', 'score': 1.33}, {'connected_gene': 'NUP210', 'score': 0.44}, {'connected_gene': 'GC03M014473', 'score': 0.2}]
chr3 GH03I013587 13587325 13590308 0.64 [{'connected_gene': 'HDAC11', 'score': 10.25}, {'connected_gene': 'HDAC11-AS1', 'score': 10.25}, {'connected_gene': 'WNT7A', 'score': 9.61}, {'connected_gene': 'GC03P013574', 'score': 0.39}, {'connected_gene': 'GC03M014469', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.28}]
chr3 GH03I013590 13590362 13593181 0.43 [{'connected_gene': 'HDAC11', 'score': 10.24}, {'connected_gene': 'HDAC11-AS1', 'score': 10.24}, {'connected_gene': 'GC03P013574', 'score': 0.37}, {'connected_gene': 'GC03M014469', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.26}]
chr3 GH03I013542 13542997 13545423 1.07 [{'connected_gene': 'HDAC11', 'score': 15.84}, {'connected_gene': 'HDAC11-AS1', 'score': 11.19}, {'connected_gene': 'FBLN2', 'score': 0.77}, {'connected_gene': 'PIR59377', 'score': 0.34}]
chr3 GH03I013593 13593925 13595501 0.52 [{'connected_gene': 'HDAC11', 'score': 10.38}, {'connected_gene': 'HDAC11-AS1', 'score': 10.38}, {'connected_gene': 'GC03M014469', 'score': 0.37}, {'connected_gene': 'GC03P013574', 'score': 0.34}, {'connected_gene': 'FBLN2', 'score': 0.25}]
chr3 GH03I013598 13598748 13602018 1.1 [{'connected_gene': 'HDAC11', 'score': 10.47}, {'connected_gene': 'HDAC11-AS1', 'score': 10.47}, {'connected_gene': 'VN1R20P', 'score': 4.5}, {'connected_gene': 'GC03M014469', 'score': 0.39}, {'connected_gene': 'GC03P013574', 'score': 0.31}, {'connected_gene': 'FBLN2', 'score': 0.23}]
chr3 GH03I013546 13546033 13547573 1.34 [{'connected_gene': 'HDAC11', 'score': 11.18}, {'connected_gene': 'HDAC11-AS1', 'score': 11.18}, {'connected_gene': 'VN1R20P', 'score': 5.22}, {'connected_gene': 'FBLN2', 'score': 0.77}, {'connected_gene': 'PIR59377', 'score': 0.34}]
chr3 GH03I013513 13513040 13514136 0.85 [{'connected_gene': 'HDAC11', 'score': 12.14}, {'connected_gene': 'HDAC11-AS1', 'score': 12.14}, {'connected_gene': 'PIR59377', 'score': 0.44}]
chr3 GH03I013491 13491018 13492651 0.31 [{'connected_gene': 'HDAC11', 'score': 0.39}, {'connected_gene': 'HDAC11-AS1', 'score': 0.39}, {'connected_gene': 'PIR59377', 'score': 0.29}]
chr3 GH03I013486 13486598 13488988 0.56 [{'connected_gene': 'HDAC11', 'score': 5.39}, {'connected_gene': 'HDAC11-AS1', 'score': 0.44}, {'connected_gene': 'PIR59377', 'score': 0.28}]
chr3 GH03I013496 13496201 13496801 1.17 [{'connected_gene': 'HDAC11', 'score': 0.37}, {'connected_gene': 'HDAC11-AS1', 'score': 0.37}, {'connected_gene': 'PIR59377', 'score': 0.31}]
chr3 GH03I013515 13515901 13517397 0.51 [{'connected_gene': 'HDAC11', 'score': 11.09}, {'connected_gene': 'HDAC11-AS1', 'score': 11.09}, {'connected_gene': 'PIR59377', 'score': 0.44}]
chr3 GH03I013506 13506943 13508823 0.97 [{'connected_gene': 'HDAC11', 'score': 12.16}, {'connected_gene': 'HDAC11-AS1', 'score': 12.16}, {'connected_gene': 'PIR59377', 'score': 0.37}]
chr3 GH03I013562 13562607 13566892 0.57 [{'connected_gene': 'TMEM43', 'score': 4.98}, {'connected_gene': 'HDAC11', 'score': 4.75}, {'connected_gene': 'GC03P013574', 'score': 0.44}, {'connected_gene': 'FBLN2', 'score': 0.37}]
chr3 GH03I013532 13532792 13540443 1.54 [{'connected_gene': 'LINC00620', 'score': 11.33}, {'connected_gene': 'FBLN2', 'score': 5.34}, {'connected_gene': 'HDAC11', 'score': 4.88}, {'connected_gene': 'PIR59377', 'score': 0.39}]
chr3 GH03I013351 13351975 13354373 1.11 [{'connected_gene': 'NUP210', 'score': 20.57}, {'connected_gene': 'HDAC11', 'score': 10.61}, {'connected_gene': 'HDAC11-AS1', 'score': 10.61}, {'connected_gene': 'IQSEC1', 'score': 0.19}, {'connected_gene': 'GC03M014473', 'score': 0.13}]
chr3 GH03I013356 13356866 13358016 0.31 [{'connected_gene': 'NUP210', 'score': 19.86}, {'connected_gene': 'HDAC11', 'score': 10.86}, {'connected_gene': 'HDAC11-AS1', 'score': 10.86}, {'connected_gene': 'IQSEC1', 'score': 0.19}, {'connected_gene': 'GC03M014473', 'score': 0.13}]
chr3 GH03I013483 13483302 13486453 1.66 [{'connected_gene': 'NUP210', 'score': 5.17}, {'connected_gene': 'HDAC11-AS1', 'score': 0.77}, {'connected_gene': 'HDAC11', 'score': 0.44}, {'connected_gene': 'PIR59377', 'score': 0.28}]
chr3 GH03I013477 13477825 13481541 2.21 [{'connected_gene': 'HDAC11-AS1', 'score': 556.56}, {'connected_gene': 'HDAC11', 'score': 550.77}, {'connected_gene': 'GC03M014473', 'score': 550.77}]
chr3 GH03I013481 13481712 13482121 0.46 [{'connected_gene': 'HDAC11-AS1', 'score': 550.77}, {'connected_gene': 'HDAC11', 'score': 0.77}, {'connected_gene': 'PIR59377', 'score': 0.26}]
chr3 GH03I013504 13504561 13504710 0.87 [{'connected_gene': 'PIR59377', 'score': 0.37}, {'connected_gene': 'HDAC11', 'score': 0.34}, {'connected_gene': 'HDAC11-AS1', 'score': 0.34}]
chr3 GH03I013499 13499689 13502037 0.67 [{'connected_gene': 'PIR59377', 'score': 0.34}, {'connected_gene': 'HDAC11', 'score': 0.34}, {'connected_gene': 'HDAC11-AS1', 'score': 0.34}]

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