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
ENST00000561623 [[27471933, 27472883], [27473614, 27473807], [27474861, 27474913], [27475715, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561234]] [[27472670, 27472883], [27473614, 27473807], [27474861, 27474913], [27475715, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561211]]
ENST00000356183 [[27471998, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561227]] [[27472670, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561211]]
ENST00000567806 [[27470875, 27470934], [27471776, 27472301]] None
ENST00000564747 [[27471996, 27474794]] None
ENST00000569653 [[27472417, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27475730], [27512627, 27512665], [27514179, 27514237]] [[27472670, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27475730], [27512627, 27512665], [27514179, 27514237]]
ENST00000562609 [[27472616, 27472883], [27473614, 27473807], [27474861, 27476157], [27476580, 27477648]] None
ENST00000567843 [[27480722, 27480871], [27481428, 27481716], [27482003, 27482040]] None
ENST00000571886 [[27481429, 27481716], [27482885, 27483241], [27487771, 27487849]] [[27483064, 27483241], [27487771, 27487849]]
ENST00000569394 [[27481543, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489915]] None
ENST00000564664 [[27483111, 27483241], [27487771, 27487865], [27489789, 27489852], [27495531, 27495674], [27497317, 27497460], [27499539, 27499736], [27499874, 27499956], [27500363, 27500444]] [[27497400, 27497460], [27499539, 27499736], [27499874, 27499956], [27500363, 27500444]]
ENST00000566779 [[27492036, 27492512], [27494364, 27494446], [27495531, 27495618]] None
ENST00000568569 [[27492435, 27492512], [27493831, 27493906], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499552]] [[27492435, 27492512], [27493831, 27493906], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499552]]
ENST00000570129 [[27494458, 27494753], [27495531, 27495674], [27497317, 27497384]] None
NM_001520 [[27471933, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561251]] [[27472670, 27472883], [27473614, 27473807], [27474861, 27474913], [27475640, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561211]]
NM_001286242 [[27471933, 27472883], [27473614, 27473807], [27474861, 27474913], [27475715, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561251]] [[27472670, 27472883], [27473614, 27473807], [27474861, 27474913], [27475715, 27476157], [27476580, 27476861], [27480611, 27480871], [27481428, 27481716], [27483068, 27483241], [27487771, 27487865], [27489789, 27489852], [27492399, 27492512], [27494364, 27494446], [27495531, 27495674], [27497317, 27497475], [27499547, 27499736], [27499874, 27499956], [27500363, 27500499], [27500922, 27501064], [27503658, 27503836], [27503937, 27504034], [27504519, 27504617], [27506083, 27506229], [27506531, 27506813], [27508957, 27509142], [27509950, 27510054], [27512511, 27512665], [27514179, 27514316], [27517219, 27517437], [27518167, 27518477], [27519860, 27519976], [27523069, 27523222], [27539918, 27540042], [27544611, 27544708], [27549104, 27549248], [27549500, 27549677], [27556634, 27556844], [27560990, 27561211]]
Promoter
Chrom Start End Description
chr16 27476316 27476328 CAGE_peak_4_at_GTF3C1_5end
chr16 27476342 27476365 CAGE_peak_2_at_GTF3C1_5end
chr16 27561209 27561244 CAGE_peak_1_at_GTF3C1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I027522 27522191 27522484 0.26 [{'connected_gene': 'IL21R', 'score': 2.27}, {'connected_gene': 'KIAA0556', 'score': 2.0}, {'connected_gene': 'GTF3C1', 'score': 1.74}, {'connected_gene': 'KDM8', 'score': 1.74}, {'connected_gene': 'IL21R-AS1', 'score': 0.2}]
chr16 GH16I027312 27312980 27332565 2.78 [{'connected_gene': 'IL4R', 'score': 572.71}, {'connected_gene': 'FLJ21408', 'score': 16.93}, {'connected_gene': 'NSMCE1', 'score': 12.49}, {'connected_gene': 'GTF3C1', 'score': 9.91}, {'connected_gene': 'IL21R', 'score': 7.1}, {'connected_gene': 'KIAA0556', 'score': 6.79}, {'connected_gene': 'GSG1L', 'score': 5.01}, {'connected_gene': 'ENSG00000259940', 'score': 4.64}, {'connected_gene': 'KDM8', 'score': 1.99}, {'connected_gene': 'ENSG00000274092', 'score': 0.44}, {'connected_gene': 'PIR58561', 'score': 0.37}]
chr16 GH16I027531 27531421 27532702 0.42 [{'connected_gene': 'GTF3C1', 'score': 0.37}, {'connected_gene': 'IL21R-AS1', 'score': 0.18}]
chr16 GH16I027515 27515980 27516089 0.54 [{'connected_gene': 'GTF3C1', 'score': 0.29}, {'connected_gene': 'IL21R-AS1', 'score': 0.21}]
chr16 GH16I027529 27529844 27530749 0.46 [{'connected_gene': 'GTF3C1', 'score': 0.37}, {'connected_gene': 'IL21R-AS1', 'score': 0.18}]
chr16 GH16I027474 27474813 27477214 0.66 [{'connected_gene': 'IL21R-AS1', 'score': 36.88}, {'connected_gene': 'GTF3C1', 'score': 0.19}]
chr16 GH16I027460 27460327 27467024 0.66 [{'connected_gene': 'IL21R-AS1', 'score': 37.34}, {'connected_gene': 'GTF3C1', 'score': 0.17}]
chr16 GH16I027482 27482151 27483856 0.31 [{'connected_gene': 'IL21R-AS1', 'score': 34.72}, {'connected_gene': 'GTF3C1', 'score': 0.2}]
chr16 GH16I027455 27455920 27456029 0.46 [{'connected_gene': 'IL21R-AS1', 'score': 0.77}, {'connected_gene': 'GTF3C1', 'score': 0.16}]
chr16 GH16I027546 27546985 27547910 1.11 [{'connected_gene': 'IL21R-AS1', 'score': 32.39}, {'connected_gene': 'GTF3C1', 'score': 0.77}]
chr16 GH16I027491 27491143 27493298 0.31 [{'connected_gene': 'IL21R-AS1', 'score': 16.09}, {'connected_gene': 'GTF3C1', 'score': 0.22}]
chr16 GH16I027469 27469580 27473347 0.95 [{'connected_gene': 'IL21R-AS1', 'score': 37.24}, {'connected_gene': 'GTF3C1', 'score': 0.18}]
chr16 GH16I027520 27520483 27521850 0.55 [{'connected_gene': 'IL21R-AS1', 'score': 33.96}, {'connected_gene': 'GTF3C1', 'score': 0.31}]
chr16 GH16I027494 27494699 27496278 0.2 [{'connected_gene': 'IL21R-AS1', 'score': 32.36}, {'connected_gene': 'GTF3C1', 'score': 0.23}]
chr16 GH16I027457 27457001 27457600 0.84 [{'connected_gene': 'IL21R-AS1', 'score': 11.63}, {'connected_gene': 'GTF3C1', 'score': 0.16}]
chr16 GH16I027548 27548063 27551611 2.03 [{'connected_gene': 'KIAA0556', 'score': 550.77}, {'connected_gene': 'GTF3C1', 'score': 550.77}, {'connected_gene': 'IL21R-AS1', 'score': 31.88}]