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
ENST00000497734	[[35973087, 35973290], [35993606, 35993680], [36011021, 36011190]]	None
ENST00000445403	[[35973087, 35973368], [36011021, 36011189], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033817]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000373578	[[35974556, 35974658], [35993606, 35993680], [36011021, 36011190], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36034453]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000360723	[[36011091, 36011189], [36012552, 36012806], [36014477, 36014577], [36014862, 36014880], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033817]]	[[36012556, 36012806], [36014477, 36014577], [36014862, 36014880], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000358208	[[36011091, 36011189], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033817]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000373567	[[36012070, 36012105], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36034453]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000373558	[[36012552, 36012806], [36014477, 36014577], [36014862, 36014880], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36034453]]	[[36012556, 36012806], [36014477, 36014577], [36014862, 36014880], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
ENST00000472968	[[36012725, 36012806], [36014477, 36014577], [36022297, 36022577]]	None
ENST00000489153	[[36022147, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026149]]	None
ENST00000477066	[[36024828, 36025177], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033825]]	None
ENST00000467556	[[36028551, 36028697], [36030004, 36030360]]	None
ENST00000477475	[[36028653, 36028697], [36030004, 36030081], [36030232, 36030695]]	None
ENST00000493775	[[36030715, 36030991], [36031151, 36031434]]	None
NM_005417	[[35973087, 35973290], [35993606, 35993680], [36011021, 36011189], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033835]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]
NM_198291	[[35974530, 35974658], [35993606, 35993680], [36011021, 36011189], [36012552, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36033835]]	[[36012556, 36012806], [36014477, 36014577], [36022297, 36022396], [36022576, 36022680], [36024564, 36024714], [36026101, 36026257], [36028517, 36028697], [36030004, 36030081], [36030837, 36030991], [36031151, 36031283], [36031573, 36031782]]

Promoter

Chrom	Start	End	Description
chr20	35973066	35973071	CAGE_peak_25_at_SRC_5end
chr20	35973080	35973136	CAGE_peak_3_at_SRC_5end
chr20	35974333	35974345	CAGE_peak_5_at_SRC_5end
chr20	35974446	35974468	CAGE_peak_4_at_SRC_5end
chr20	35974484	35974529	CAGE_peak_2_at_SRC_5end
chr20	35974532	35974551	CAGE_peak_1_at_SRC_5end
chr20	36010770	36010789	CAGE_peak_9_at_SRC_5end
chr20	36011978	36012014	CAGE_peak_6_at_SRC_5end
chr20	36012051	36012065	CAGE_peak_16_at_SRC_5end
chr20	36012152	36012154	CAGE_peak_18_at_SRC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I037356	37356001	37359701	1.39	[{'connected_gene': 'SRC', 'score': 9.3}, {'connected_gene': 'MANBAL', 'score': 6.86}, {'connected_gene': 'SAMHD1', 'score': 4.21}, {'connected_gene': 'TGIF2', 'score': 4.04}, {'connected_gene': 'CTNNBL1', 'score': 2.18}, {'connected_gene': 'GC20M037240', 'score': 0.39}, {'connected_gene': 'RPL7AP14', 'score': 0.17}]
chr20	GH20I037378	37378195	37383719	2.23	[{'connected_gene': 'SRC', 'score': 576.9}, {'connected_gene': 'MANBAL', 'score': 9.17}, {'connected_gene': 'SAMHD1', 'score': 3.52}, {'connected_gene': 'CTNNBL1', 'score': 2.85}, {'connected_gene': 'GC20M037240', 'score': 0.29}, {'connected_gene': 'RPL7AP14', 'score': 0.21}]
chr20	GH20I037343	37343123	37350907	2.71	[{'connected_gene': 'SRC', 'score': 574.83}, {'connected_gene': 'GC20M037240', 'score': 550.77}, {'connected_gene': 'MANBAL', 'score': 31.17}, {'connected_gene': 'MROH8', 'score': 10.37}, {'connected_gene': 'TTI1', 'score': 10.34}, {'connected_gene': 'DSN1', 'score': 4.59}, {'connected_gene': 'CTNNBL1', 'score': 4.4}, {'connected_gene': 'SAMHD1', 'score': 1.75}, {'connected_gene': 'LOC105372606', 'score': 0.77}, {'connected_gene': 'RPL7AP14', 'score': 0.15}]
chr20	GH20I037386	37386480	37387551	0.46	[{'connected_gene': 'SRC', 'score': 0.26}, {'connected_gene': 'GC20M037240', 'score': 0.26}, {'connected_gene': 'RPL7AP14', 'score': 0.22}]
chr20	GH20I037377	37377275	37377638	0.57	[{'connected_gene': 'SRC', 'score': 0.29}, {'connected_gene': 'GC20M037240', 'score': 0.29}, {'connected_gene': 'RPL7AP14', 'score': 0.2}]
chr20	GH20I037384	37384033	37385321	1.45	[{'connected_gene': 'SRC', 'score': 0.28}, {'connected_gene': 'GC20M037240', 'score': 0.28}, {'connected_gene': 'RPL7AP14', 'score': 0.21}]
chr20	GH20I037392	37392518	37392667	0.89	[{'connected_gene': 'SRC', 'score': 0.25}, {'connected_gene': 'GC20M037240', 'score': 0.25}, {'connected_gene': 'RPL7AP14', 'score': 0.23}]
chr20	GH20I037342	37342800	37343001	1.03	[{'connected_gene': 'SRC', 'score': 550.77}, {'connected_gene': 'LOC105372606', 'score': 550.77}, {'connected_gene': 'MANBAL', 'score': 11.32}, {'connected_gene': 'GC20M037240', 'score': 0.77}, {'connected_gene': 'GC20M037319', 'score': 0.34}]
chr20	GH20I037274	37274202	37277892	1.55	[{'connected_gene': 'MANBAL', 'score': 28.94}, {'connected_gene': 'SRC', 'score': 11.26}, {'connected_gene': 'RPN2', 'score': 5.16}, {'connected_gene': 'SAMHD1', 'score': 2.27}, {'connected_gene': 'CTNNBL1', 'score': 1.27}, {'connected_gene': 'GC20P037271', 'score': 0.44}, {'connected_gene': 'GC20M037240', 'score': 0.19}]
chr20	GH20I037335	37335390	37338064	1.71	[{'connected_gene': 'MANBAL', 'score': 29.86}, {'connected_gene': 'SRC', 'score': 25.73}, {'connected_gene': 'GHRH', 'score': 9.99}, {'connected_gene': 'SAMHD1', 'score': 1.89}, {'connected_gene': 'CTNNBL1', 'score': 1.51}, {'connected_gene': 'GC20M037240', 'score': 0.44}, {'connected_gene': 'LOC105372606', 'score': 0.44}, {'connected_gene': 'GC20M037319', 'score': 0.37}]
chr20	GH20I037293	37293402	37298986	1.99	[{'connected_gene': 'MANBAL', 'score': 583.79}, {'connected_gene': 'SRC', 'score': 20.15}, {'connected_gene': 'SAMHD1', 'score': 4.23}, {'connected_gene': 'CTNNBL1', 'score': 2.68}, {'connected_gene': 'PIR39095', 'score': 0.34}, {'connected_gene': 'GC20M037240', 'score': 0.25}]
chr20	GH20I037710	37710211	37716712	1.55	[{'connected_gene': 'CTNNBL1', 'score': 15.63}, {'connected_gene': 'VSTM2L', 'score': 7.82}, {'connected_gene': 'SRC', 'score': 2.6}, {'connected_gene': 'MANBAL', 'score': 2.25}, {'connected_gene': 'GHRH', 'score': 1.38}, {'connected_gene': 'RPRD1B', 'score': 1.22}, {'connected_gene': 'GC20P037869', 'score': 0.1}]
chr20	GH20I037405	37405991	37407200	1.47	[{'connected_gene': 'NNAT', 'score': 5.08}, {'connected_gene': 'VSTM2L', 'score': 4.42}, {'connected_gene': 'MROH8', 'score': 1.4}, {'connected_gene': 'RPL7AP14', 'score': 0.28}, {'connected_gene': 'SRC', 'score': 0.21}, {'connected_gene': 'GC20M037240', 'score': 0.21}]
chr20	GH20I037365	37365540	37367211	0.97	[{'connected_gene': 'GHRH', 'score': 10.87}, {'connected_gene': 'DSN1', 'score': 9.7}, {'connected_gene': 'SRC', 'score': 0.34}, {'connected_gene': 'GC20M037240', 'score': 0.34}, {'connected_gene': 'RPL7AP14', 'score': 0.18}]
chr20	GH20I037362	37362346	37364038	0.38	[{'connected_gene': 'GHRH', 'score': 10.87}, {'connected_gene': 'LBP', 'score': 4.54}, {'connected_gene': 'SRC', 'score': 0.37}, {'connected_gene': 'GC20M037240', 'score': 0.37}, {'connected_gene': 'RPL7AP14', 'score': 0.18}]
chr20	GH20I037393	37393878	37398781	1.3	[{'connected_gene': 'GHRH', 'score': 11.2}, {'connected_gene': 'RPL7AP14', 'score': 0.25}, {'connected_gene': 'SRC', 'score': 0.23}, {'connected_gene': 'GC20M037240', 'score': 0.23}]
chr20	GH20I037222	37222698	37223841	1.09	[{'connected_gene': 'GC20M037216', 'score': 550.77}, {'connected_gene': 'SRC', 'score': 30.12}, {'connected_gene': 'MANBAL', 'score': 17.47}, {'connected_gene': 'GHRH', 'score': 12.31}, {'connected_gene': 'SAMHD1', 'score': 1.82}, {'connected_gene': 'CTNNBL1', 'score': 1.4}, {'connected_gene': 'PIR43816', 'score': 0.44}, {'connected_gene': 'RPN2', 'score': 0.26}]
chr20	GH20I037354	37354618	37354767	0.4	[{'connected_gene': 'GC20M037240', 'score': 0.44}, {'connected_gene': 'SRC', 'score': 0.39}, {'connected_gene': 'RPL7AP14', 'score': 0.16}]
chr20	GH20I037375	37375458	37375607	0.31	[{'connected_gene': 'GC20M037240', 'score': 0.31}, {'connected_gene': 'SRC', 'score': 0.29}, {'connected_gene': 'RPL7AP14', 'score': 0.19}]
chr20	GH20I037355	37355038	37355130	0.4	[{'connected_gene': 'GC20M037240', 'score': 0.44}, {'connected_gene': 'SRC', 'score': 0.39}, {'connected_gene': 'RPL7AP14', 'score': 0.16}]
chr20	GH20I037269	37269298	37271612	1.64	[{'connected_gene': 'GC20P037270', 'score': 550.77}, {'connected_gene': 'GC20P037271', 'score': 550.77}, {'connected_gene': 'MANBAL', 'score': 20.42}, {'connected_gene': 'SRC', 'score': 13.43}, {'connected_gene': 'SAMHD1', 'score': 1.81}, {'connected_gene': 'GHRH', 'score': 0.44}, {'connected_gene': 'GC20M037240', 'score': 0.18}]