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
ENST00000324873	[[28548605, 28548990], [28549326, 28549476], [28550116, 28550495]]	[[28549339, 28549476], [28550116, 28550228]]
ENST00000567646	[[28548827, 28548990], [28549326, 28549476], [28549846, 28549975], [28550116, 28550272]]	[[28549955, 28549975], [28550116, 28550228]]
ENST00000395641	[[28548857, 28548990], [28549326, 28549530], [28550116, 28550329]]	[[28549339, 28549530], [28550116, 28550228]]
NM_001042483	[[28548661, 28548990], [28549326, 28549530], [28550116, 28550495]]	[[28549339, 28549530], [28550116, 28550228]]
NM_012385	[[28548661, 28548990], [28549326, 28549476], [28550116, 28550495]]	[[28549339, 28549476], [28550116, 28550228]]

Promoter

Chrom	Start	End	Description
chr16	28550256	28550271	CAGE_peak_3_at_NUPR1_5end
chr16	28550272	28550303	CAGE_peak_1_at_NUPR1_5end
chr16	28550320	28550345	CAGE_peak_2_at_NUPR1_5end
chr16	28550348	28550365	CAGE_peak_4_at_NUPR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I028542	28542601	28544525	1.02	[{'connected_gene': 'SULT1A2', 'score': 60.18}, {'connected_gene': 'TUFM', 'score': 28.42}, {'connected_gene': 'NPIPB7', 'score': 12.19}, {'connected_gene': 'CLN3', 'score': 11.9}, {'connected_gene': 'APOBR', 'score': 11.9}, {'connected_gene': 'CD19', 'score': 10.36}, {'connected_gene': 'RABEP2', 'score': 10.36}, {'connected_gene': 'IL27', 'score': 6.11}, {'connected_gene': 'ENSG00000251417', 'score': 4.3}, {'connected_gene': 'SULT1A1', 'score': 1.93}, {'connected_gene': 'NUPR1', 'score': 0.77}, {'connected_gene': 'ENSG00000271495', 'score': 0.44}]
chr16	GH16I028537	28537076	28540052	1.98	[{'connected_gene': 'NUPR1', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 39.2}, {'connected_gene': 'TUFM', 'score': 28.68}, {'connected_gene': 'ENSG00000271623', 'score': 4.19}, {'connected_gene': 'PIR42560', 'score': 0.44}]
chr16	GH16I028531	28531802	28535509	1.31	[{'connected_gene': 'PIR42560', 'score': 550.77}, {'connected_gene': 'SULT1A2', 'score': 59.53}, {'connected_gene': 'TUFM', 'score': 27.5}, {'connected_gene': 'APOBR', 'score': 13.79}, {'connected_gene': 'SGF29', 'score': 12.1}, {'connected_gene': 'NPIPB7', 'score': 12.1}, {'connected_gene': 'CLN3', 'score': 11.85}, {'connected_gene': 'IL27', 'score': 10.81}, {'connected_gene': 'ENSG00000251417', 'score': 4.34}, {'connected_gene': 'SULT1A1', 'score': 3.37}, {'connected_gene': 'SPNS1', 'score': 2.75}, {'connected_gene': 'EIF3CL', 'score': 2.54}, {'connected_gene': 'EIF3C', 'score': 2.51}, {'connected_gene': 'NUPR1', 'score': 0.44}]