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
ENST00000246672	[[38249039, 38249535], [38250164, 38250375], [38251187, 38251373], [38251696, 38252340], [38252695, 38252840], [38252943, 38253032], [38253317, 38253656], [38256316, 38256978]]	[[38249335, 38249535], [38250164, 38250375], [38251187, 38251373], [38251696, 38252340], [38252695, 38252840], [38252943, 38253032], [38253317, 38253656], [38256316, 38256347]]
NM_021724	[[38249036, 38249535], [38250164, 38250375], [38251187, 38251373], [38251696, 38252340], [38252695, 38252840], [38252943, 38253032], [38253317, 38253656], [38256316, 38256978]]	[[38249335, 38249535], [38250164, 38250375], [38251187, 38251373], [38251696, 38252340], [38252695, 38252840], [38252943, 38253032], [38253317, 38253656], [38256316, 38256347]]

Promoter

Chrom	Start	End	Description
chr17	38252990	38252995	CAGE_peak_12_at_NR1D1_5end
chr17	38256590	38256599	CAGE_peak_8_at_NR1D1_5end
chr17	38256695	38256706	CAGE_peak_7_at_NR1D1_5end
chr17	38256799	38256815	CAGE_peak_3_at_NR1D1_5end
chr17	38256822	38256851	CAGE_peak_1_at_NR1D1_5end
chr17	38256858	38256866	CAGE_peak_6_at_NR1D1_5end
chr17	38256872	38256874	CAGE_peak_10_at_NR1D1_5end
chr17	38256877	38256900	CAGE_peak_2_at_NR1D1_5end
chr17	38256932	38256965	CAGE_peak_4_at_NR1D1_5end
chr17	38256973	38256990	CAGE_peak_5_at_NR1D1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040083	40083488	40085014	0.2	[{'connected_gene': 'MED24', 'score': 16.81}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'PSMD3', 'score': 9.63}, {'connected_gene': 'CDC6', 'score': 9.5}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.37}]
chr17	GH17I040086	40086528	40086697	0.94	[{'connected_gene': 'MED24', 'score': 12.19}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'PSMD3', 'score': 10.67}, {'connected_gene': 'GSDMA', 'score': 10.48}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'CDC6', 'score': 9.52}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.39}]
chr17	GH17I040088	40088142	40102552	2.8	[{'connected_gene': 'NR1D1', 'score': 552.12}, {'connected_gene': 'CDK12', 'score': 55.71}, {'connected_gene': 'MED1', 'score': 46.52}, {'connected_gene': 'SMARCE1', 'score': 43.23}, {'connected_gene': 'MSL1', 'score': 35.27}, {'connected_gene': 'MED24', 'score': 18.58}, {'connected_gene': 'GSDMA', 'score': 15.4}, {'connected_gene': 'CCR7', 'score': 11.95}, {'connected_gene': 'THRA', 'score': 11.48}, {'connected_gene': 'RPL19', 'score': 10.62}, {'connected_gene': 'SNORD124', 'score': 10.61}, {'connected_gene': 'STARD3', 'score': 10.52}, {'connected_gene': 'TOP2A', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.99}, {'connected_gene': 'RARA', 'score': 5.19}, {'connected_gene': 'PGAP3', 'score': 5.02}, {'connected_gene': 'KRT24', 'score': 4.11}, {'connected_gene': 'GRB7', 'score': 2.16}, {'connected_gene': 'WIPF2', 'score': 1.49}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I040102	40102797	40116135	1.83	[{'connected_gene': 'MED1', 'score': 66.07}, {'connected_gene': 'CDK12', 'score': 65.5}, {'connected_gene': 'SMARCE1', 'score': 54.2}, {'connected_gene': 'MSL1', 'score': 49.71}, {'connected_gene': 'MED24', 'score': 38.1}, {'connected_gene': 'RARA', 'score': 26.57}, {'connected_gene': 'RPL19', 'score': 20.09}, {'connected_gene': 'SNORD124', 'score': 16.41}, {'connected_gene': 'CASC3', 'score': 11.83}, {'connected_gene': 'THRA', 'score': 11.22}, {'connected_gene': 'IGFBP4', 'score': 10.8}, {'connected_gene': 'CDC6', 'score': 9.63}, {'connected_gene': 'ENSG00000266208', 'score': 9.3}, {'connected_gene': 'GSDMA', 'score': 5.27}, {'connected_gene': 'NR1D1', 'score': 2.07}, {'connected_gene': 'WIPF2', 'score': 1.65}, {'connected_gene': 'ENSG00000279199', 'score': 0.44}]
chr17	GH17I040061	40061890	40076700	2.95	[{'connected_gene': 'THRA', 'score': 554.9}, {'connected_gene': 'GC17P040067', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 33.4}, {'connected_gene': 'MED24', 'score': 31.76}, {'connected_gene': 'SMARCE1', 'score': 31.34}, {'connected_gene': 'MSL1', 'score': 28.13}, {'connected_gene': 'GSDMA', 'score': 20.29}, {'connected_gene': 'CDK12', 'score': 16.77}, {'connected_gene': 'RAPGEFL1', 'score': 10.71}, {'connected_gene': 'PSMD3', 'score': 10.61}, {'connected_gene': 'RPL19', 'score': 10.48}, {'connected_gene': 'TCAP', 'score': 8.67}, {'connected_gene': 'ORMDL3', 'score': 5.17}, {'connected_gene': 'GSDMB', 'score': 3.76}, {'connected_gene': 'NR1D1', 'score': 3.17}, {'connected_gene': 'PPP1R1B', 'score': 1.54}, {'connected_gene': 'NEUROD2', 'score': 1.27}, {'connected_gene': 'GC17P040059', 'score': 0.39}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I040217	40217716	40220601	2.34	[{'connected_gene': 'WIPF2', 'score': 552.71}, {'connected_gene': 'MED1', 'score': 45.8}, {'connected_gene': 'CDK12', 'score': 41.29}, {'connected_gene': 'SMARCE1', 'score': 39.19}, {'connected_gene': 'RAPGEFL1', 'score': 19.61}, {'connected_gene': 'PGAP3', 'score': 13.71}, {'connected_gene': 'MSL1', 'score': 12.22}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'IGFBP4', 'score': 10.11}, {'connected_gene': 'ENSG00000266208', 'score': 9.33}, {'connected_gene': 'KRT222', 'score': 8.63}, {'connected_gene': 'THRA', 'score': 4.17}, {'connected_gene': 'NR1D1', 'score': 1.52}, {'connected_gene': 'RARA', 'score': 1.36}, {'connected_gene': 'MIR6867', 'score': 0.31}, {'connected_gene': 'GC17P040124', 'score': 0.16}]