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
ENST00000244745	[[21593971, 21598847]]	[[21594765, 21596190]]
ENST00000543472	[[21594070, 21594633], [21594714, 21596233]]	[[21594765, 21596190]]
NM_003107	[[21593971, 21598850]]	[[21594765, 21596190]]

Promoter

Chrom	Start	End	Description
chr6	21593973	21593988	CAGE_peak_1_at_SOX4_5end
chr6	21594206	21594221	CAGE_peak_15_at_SOX4_5end
chr6	21594252	21594285	CAGE_peak_11_at_SOX4_5end
chr6	21594391	21594431	CAGE_peak_9_at_SOX4_5end
chr6	21594845	21594908	CAGE_peak_6_at_SOX4_5end
chr6	21595079	21595108	CAGE_peak_13_at_SOX4_5end
chr6	21597283	21597312	CAGE_peak_7_at_SOX4_5end
chr6	21597370	21597408	CAGE_peak_5_at_SOX4_5end
chr6	21597431	21597447	CAGE_peak_8_at_SOX4_5end
chr6	21597499	21597513	CAGE_peak_16_at_SOX4_5end
chr6	21597514	21597578	CAGE_peak_4_at_SOX4_5end
chr6	21597600	21597664	CAGE_peak_3_at_SOX4_5end
chr6	21597687	21597708	CAGE_peak_14_at_SOX4_5end
chr6	21597765	21597779	CAGE_peak_2_at_SOX4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I020810	20810137	20812243	1.47	[{'connected_gene': 'SOX4', 'score': 11.38}, {'connected_gene': 'CDKAL1', 'score': 10.62}, {'connected_gene': 'GC06P020818', 'score': 0.44}, {'connected_gene': 'GC06M020809', 'score': 0.39}, {'connected_gene': 'ENSG00000233848', 'score': 0.39}]
chr6	GH06I021731	21731199	21733653	1.03	[{'connected_gene': 'SOX4', 'score': 11.73}, {'connected_gene': 'GC06P021763', 'score': 0.29}, {'connected_gene': 'CASC15', 'score': 0.2}]
chr6	GH06I021737	21737135	21743391	1.29	[{'connected_gene': 'SOX4', 'score': 10.77}, {'connected_gene': 'GC06P021763', 'score': 0.34}, {'connected_gene': 'CASC15', 'score': 0.18}]
chr6	GH06I021722	21722336	21723858	0.86	[{'connected_gene': 'SOX4', 'score': 14.57}, {'connected_gene': 'GC06P021763', 'score': 0.26}, {'connected_gene': 'CASC15', 'score': 0.22}]
chr6	GH06I021986	21986337	21988712	1.56	[{'connected_gene': 'SOX4', 'score': 12.47}, {'connected_gene': 'GC06P021990', 'score': 0.77}, {'connected_gene': 'GC06P021926', 'score': 0.21}, {'connected_gene': 'CASC15', 'score': 0.05}]
chr6	GH06I021614	21614945	21616808	0.77	[{'connected_gene': 'SOX4', 'score': 12.28}, {'connected_gene': 'BOLA2P3', 'score': 0.39}, {'connected_gene': 'CASC15', 'score': 0.25}]
chr6	GH06I022037	22037810	22038858	0.43	[{'connected_gene': 'SOX4', 'score': 9.78}, {'connected_gene': 'RN7SKP240', 'score': 0.25}, {'connected_gene': 'GC06P021990', 'score': 0.25}, {'connected_gene': 'CASC15', 'score': 0.05}]
chr6	GH06I021273	21273049	21273085	0.23	[{'connected_gene': 'SOX4', 'score': 1.45}, {'connected_gene': 'ENSG00000227089', 'score': 0.18}, {'connected_gene': 'LOC105374966', 'score': 0.12}]
chr6	GH06I021586	21586615	21589979	1.95	[{'connected_gene': 'SOX4', 'score': 17.49}, {'connected_gene': 'ENSG00000283480', 'score': 0.44}, {'connected_gene': 'GC06P021540', 'score': 0.25}]
chr6	GH06I021263	21263530	21265836	1.27	[{'connected_gene': 'CDKAL1', 'score': 14.96}, {'connected_gene': 'SOX4', 'score': 11.18}, {'connected_gene': 'E2F3', 'score': 5.18}, {'connected_gene': 'ENSG00000227089', 'score': 0.16}, {'connected_gene': 'LOC105374966', 'score': 0.13}]
chr6	GH06I021664	21664133	21667801	1.74	[{'connected_gene': 'CASC15', 'score': 550.77}, {'connected_gene': 'SOX4', 'score': 2.66}, {'connected_gene': 'GC06P021763', 'score': 0.15}]
chr6	GH06I021603	21602805	21604641	1.01	[{'connected_gene': 'BOLA2P3', 'score': 550.77}, {'connected_gene': 'SOX4', 'score': 2.44}, {'connected_gene': 'CASC15', 'score': 0.21}]
chr6	GH06I021602	21602190	21602339	0.63	[{'connected_gene': 'BOLA2P3', 'score': 550.77}, {'connected_gene': 'SOX4', 'score': 12.54}, {'connected_gene': 'CASC15', 'score': 0.21}]
chr6	GH06I021990	21990274	21995280	0.63	[{'connected_gene': 'GC06P021990', 'score': 550.77}, {'connected_gene': 'SOX4', 'score': 13.28}, {'connected_gene': 'RN7SKP240', 'score': 0.16}, {'connected_gene': 'CASC15', 'score': 0.05}]
chr6	GH06I021593	21593090	21600039	2.24	[{'connected_gene': 'GC06P021597', 'score': 550.77}, {'connected_gene': 'ENSG00000283480', 'score': 550.77}, {'connected_gene': 'SOX4', 'score': 550.77}, {'connected_gene': 'GC06P021540', 'score': 0.22}]