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
ENST00000578026	[[57297827, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351099]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57335111, 57335137]]
ENST00000284116	[[57297833, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351873]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351134]]
ENST00000581140	[[57297882, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350166], [57352480, 57352866]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350166], [57352480, 57352559]]
ENST00000579020	[[57297890, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57348296, 57348356], [57350145, 57350197], [57351011, 57351077]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57348296, 57348353]]
ENST00000581276	[[57297922, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350382]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350248]]
ENST00000583543	[[57298042, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326589]]	None
ENST00000579076	[[57344404, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351224], [57353199, 57353328]]	[[57344404, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351134]]
NM_001165994	[[57297827, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350382]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350248]]
NM_001165993	[[57297827, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350166], [57352480, 57353331]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350166], [57352480, 57352559]]
NM_182569	[[57297827, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57353331]]	[[57297970, 57298112], [57311852, 57311895], [57322774, 57322910], [57326100, 57326146], [57334482, 57334601], [57335111, 57335201], [57344401, 57344535], [57348296, 57348356], [57350145, 57350197], [57351011, 57351134]]

Promoter

Chrom	Start	End	Description
chr17	57297807	57297922	CAGE_peak_1_at_GDPD1_5end
chr17	57297924	57297964	CAGE_peak_2_at_GDPD1_5end
chr17	57298025	57298051	CAGE_peak_3_at_GDPD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I059209	59209201	59211375	2.14	[{'connected_gene': 'SMG8', 'score': 564.72}, {'connected_gene': 'TUBD1', 'score': 46.29}, {'connected_gene': 'RPS6KB1', 'score': 45.88}, {'connected_gene': 'MKS1', 'score': 40.68}, {'connected_gene': 'HEATR6', 'score': 27.4}, {'connected_gene': 'TRIM37', 'score': 27.24}, {'connected_gene': 'RNFT1', 'score': 23.76}, {'connected_gene': 'NDUFB8P2', 'score': 22.59}, {'connected_gene': 'SKA2', 'score': 22.18}, {'connected_gene': 'DHX40', 'score': 18.8}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'ENSG00000265303', 'score': 0.39}, {'connected_gene': 'GDPD1', 'score': 0.39}]
chr17	GH17I059219	59219717	59221601	2.05	[{'connected_gene': 'GDPD1', 'score': 550.77}, {'connected_gene': 'TUBD1', 'score': 35.59}, {'connected_gene': 'RPS6KB1', 'score': 34.17}, {'connected_gene': 'HEATR6', 'score': 29.18}, {'connected_gene': 'NDUFB8P2', 'score': 14.09}, {'connected_gene': 'DHX40', 'score': 11.3}, {'connected_gene': 'MIR454', 'score': 9.97}, {'connected_gene': 'RAD51C', 'score': 7.36}, {'connected_gene': 'SKA2', 'score': 4.25}, {'connected_gene': 'GC17P059261', 'score': 0.26}]
chr17	GH17I058924	58924322	58924554	0.34	[{'connected_gene': 'PPM1E', 'score': 2.84}, {'connected_gene': 'SEPT4', 'score': 1.73}, {'connected_gene': 'GDPD1', 'score': 1.57}, {'connected_gene': 'ENSG00000275680', 'score': 0.31}, {'connected_gene': 'RPS12P30', 'score': 0.31}]
chr17	GH17I059123	59123139	59123265	0.43	[{'connected_gene': 'GC17M059121', 'score': 550.77}, {'connected_gene': 'MIR301A', 'score': 12.19}, {'connected_gene': 'SKA2', 'score': 11.51}, {'connected_gene': 'PRR11', 'score': 11.51}, {'connected_gene': 'SMG8', 'score': 10.63}, {'connected_gene': 'GDPD1', 'score': 1.85}, {'connected_gene': 'RNU2-58P', 'score': 0.44}]