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
ENST00000312156	[[54685894, 54687165], [54688918, 54689088], [54689327, 54689544]]	[[54686157, 54687165], [54688918, 54689032]]
ENST00000435572	[[54685894, 54687165], [54688918, 54689088], [54694584, 54694905]]	[[54686157, 54687165], [54688918, 54689032]]
ENST00000540264	[[54685956, 54687165], [54688918, 54689542]]	[[54686157, 54687165], [54688918, 54689032]]
ENST00000553070	[[54686157, 54687165], [54688918, 54689088], [54693930, 54694060], [54694584, 54694799]]	[[54686157, 54687165], [54688918, 54689032]]
ENST00000553198	[[54686248, 54687165], [54688918, 54689088], [54691547, 54691668]]	[[54686248, 54687165], [54688918, 54689032]]
NM_006163	[[54685890, 54687165], [54688918, 54689088], [54689327, 54689563]]	[[54686157, 54687165], [54688918, 54689032]]
NM_001261461	[[54685890, 54687165], [54688918, 54689088], [54693930, 54694060], [54694584, 54694821]]	[[54686157, 54687165], [54688918, 54689032]]
NM_001136023	[[54685890, 54687165], [54688918, 54689088], [54694584, 54694821]]	[[54686157, 54687165], [54688918, 54689032]]

Promoter

Chrom	Start	End	Description
chr12	54689532	54689551	CAGE_peak_4_at_NFE2_5end
chr12	54689552	54689574	CAGE_peak_6_at_NFE2_5end
chr12	54691711	54691725	CAGE_peak_7_at_NFE2_5end
chr12	54691726	54691738	CAGE_peak_9_at_NFE2_5end
chr12	54694653	54694672	CAGE_peak_2_at_NFE2_5end
chr12	54694686	54694697	CAGE_peak_8_at_NFE2_5end
chr12	54694738	54694749	CAGE_peak_5_at_NFE2_5end
chr12	54694758	54694805	CAGE_peak_1_at_NFE2_5end
chr12	54694807	54694832	CAGE_peak_3_at_NFE2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I053480	53480656	53482408	0.86	[{'connected_gene': 'AAAS', 'score': 26.66}, {'connected_gene': 'NPFF', 'score': 11.71}, {'connected_gene': 'AMHR2', 'score': 10.72}, {'connected_gene': 'NFE2', 'score': 4.3}, {'connected_gene': 'ENSG00000273658', 'score': 0.37}, {'connected_gene': 'MAP3K12', 'score': 0.37}, {'connected_gene': 'PCBP2', 'score': 0.31}]
chr12	GH12I054303	54303312	54305933	1.74	[{'connected_gene': 'NFE2', 'score': 40.35}, {'connected_gene': 'MAP3K12', 'score': 12.64}, {'connected_gene': 'GTSF1', 'score': 4.96}, {'connected_gene': 'FLJ12825', 'score': 4.86}, {'connected_gene': 'COPZ1', 'score': 0.77}, {'connected_gene': 'RNU6-950P', 'score': 0.39}, {'connected_gene': 'GC12M054318', 'score': 0.39}, {'connected_gene': 'ENSG00000258344', 'score': 0.31}]
chr12	GH12I054306	54306138	54308272	1.47	[{'connected_gene': 'NFE2', 'score': 21.82}, {'connected_gene': 'MIR148B', 'score': 12.58}, {'connected_gene': 'GPR84', 'score': 11.52}, {'connected_gene': 'SMUG1', 'score': 4.95}, {'connected_gene': 'NCKAP1L', 'score': 2.1}, {'connected_gene': 'ZNF385A', 'score': 1.81}, {'connected_gene': 'COPZ1', 'score': 0.44}, {'connected_gene': 'RNU6-950P', 'score': 0.39}, {'connected_gene': 'GC12M054318', 'score': 0.39}, {'connected_gene': 'ENSG00000258344', 'score': 0.29}]
chr12	GH12I054291	54291189	54303034	2.71	[{'connected_gene': 'NFE2', 'score': 552.92}, {'connected_gene': 'HNRNPA1', 'score': 26.95}, {'connected_gene': 'RNU6-950P', 'score': 14.07}, {'connected_gene': 'MIR148B', 'score': 12.68}, {'connected_gene': 'GPR84', 'score': 12.46}, {'connected_gene': 'ZNF385A', 'score': 10.95}, {'connected_gene': 'FLJ12825', 'score': 7.32}, {'connected_gene': 'GTSF1', 'score': 6.67}, {'connected_gene': 'AAAS', 'score': 4.92}, {'connected_gene': 'COPZ1', 'score': 0.77}, {'connected_gene': 'ENSG00000258344', 'score': 0.34}]
chr12	GH12I054277	54277514	54284616	2.32	[{'connected_gene': 'CBX5', 'score': 581.8}, {'connected_gene': 'HNRNPA1', 'score': 579.5}, {'connected_gene': 'SP1', 'score': 45.26}, {'connected_gene': 'PCBP2', 'score': 44.75}, {'connected_gene': 'MAP3K12', 'score': 32.59}, {'connected_gene': 'AAAS', 'score': 32.57}, {'connected_gene': 'ENSG00000258344', 'score': 30.79}, {'connected_gene': 'COPZ1', 'score': 23.77}, {'connected_gene': 'ATF7', 'score': 19.81}, {'connected_gene': 'TARBP2', 'score': 12.77}, {'connected_gene': 'GPR84', 'score': 12.29}, {'connected_gene': 'RNU6-950P', 'score': 12.09}, {'connected_gene': 'NPFF', 'score': 11.72}, {'connected_gene': 'HOXC6', 'score': 10.69}, {'connected_gene': 'HOXC4', 'score': 10.61}, {'connected_gene': 'HOXC9', 'score': 10.59}, {'connected_gene': 'HOXC8', 'score': 10.19}, {'connected_gene': 'LOC100652999', 'score': 9.74}, {'connected_gene': 'PFDN5', 'score': 9.7}, {'connected_gene': 'FLJ12825', 'score': 5.94}, {'connected_gene': 'GTSF1', 'score': 4.49}, {'connected_gene': 'ENSG00000257596', 'score': 0.37}, {'connected_gene': 'NFE2', 'score': 0.34}]
chr12	GH12I054285	54285195	54291145	1.41	[{'connected_gene': 'SP1', 'score': 18.96}, {'connected_gene': 'PCBP2', 'score': 17.28}, {'connected_gene': 'ATF7', 'score': 16.84}, {'connected_gene': 'RNU6-950P', 'score': 13.17}, {'connected_gene': 'GPR84', 'score': 12.44}, {'connected_gene': 'ENSG00000270175', 'score': 12.37}, {'connected_gene': 'MIR148B', 'score': 12.3}, {'connected_gene': 'CALCOCO1', 'score': 11.52}, {'connected_gene': 'HNRNPA1', 'score': 11.34}, {'connected_gene': 'HOXC4', 'score': 10.1}, {'connected_gene': 'ENSG00000258344', 'score': 10.05}, {'connected_gene': 'LOC100652999', 'score': 9.94}, {'connected_gene': 'GTSF1', 'score': 6.63}, {'connected_gene': 'FLJ12825', 'score': 4.91}, {'connected_gene': 'NFE2', 'score': 0.39}]