PsyMuKB

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}]