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
ENST00000245479	[[70117160, 70117963], [70118859, 70119113], [70119683, 70122561]]	[[70117532, 70117963], [70118859, 70119113], [70119683, 70120528]]
NM_000346	[[70117160, 70117963], [70118859, 70119113], [70119683, 70122561]]	[[70117532, 70117963], [70118859, 70119113], [70119683, 70120528]]

Promoter

Chrom	Start	End	Description
chr17	70117153	70117174	CAGE_peak_1_at_SOX9_5end
chr17	70121709	70121718	CAGE_peak_2_at_SOX9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I072187	72187183	72187200	0.24	[{'connected_gene': 'SOX9', 'score': 1.43}, {'connected_gene': 'GC17P072161', 'score': 0.31}, {'connected_gene': 'GC17P072219', 'score': 0.29}, {'connected_gene': 'SOX9-AS1', 'score': 0.23}]
chr17	GH17I072120	72119550	72128105	2.44	[{'connected_gene': 'SOX9', 'score': 550.77}, {'connected_gene': 'SLC39A11', 'score': 4.74}, {'connected_gene': 'GC17P072122', 'score': 0.77}, {'connected_gene': 'GC17P072161', 'score': 0.28}, {'connected_gene': 'SOX9-AS1', 'score': 0.14}]
chr17	GH17I072416	72415322	72417529	1.07	[{'connected_gene': 'SOX9', 'score': 1.3}, {'connected_gene': 'ENSG00000263680', 'score': 0.44}, {'connected_gene': 'LINC02003', 'score': 0.19}, {'connected_gene': 'LINC00673', 'score': 0.1}, {'connected_gene': 'LINC00511', 'score': 0.07}]
chr17	GH17I072398	72398859	72409213	1.69	[{'connected_gene': 'SOX9', 'score': 1.96}, {'connected_gene': 'ENSG00000263680', 'score': 0.34}, {'connected_gene': 'LINC02003', 'score': 0.21}, {'connected_gene': 'LINC00673', 'score': 0.09}, {'connected_gene': 'LINC00511', 'score': 0.07}]
chr17	GH17I072418	72418928	72424820	1.72	[{'connected_gene': 'SOX9', 'score': 6.74}, {'connected_gene': 'ENSG00000263680', 'score': 0.77}, {'connected_gene': 'LINC02003', 'score': 0.18}, {'connected_gene': 'LINC00673', 'score': 0.09}, {'connected_gene': 'LINC00511', 'score': 0.08}]
chr17	GH17I072107	72107507	72107639	0.22	[{'connected_gene': 'SOX9', 'score': 0.39}, {'connected_gene': 'LINC02097', 'score': 0.28}, {'connected_gene': 'SOX9-AS1', 'score': 0.13}]
chr17	GH17I072119	72119140	72119289	0.49	[{'connected_gene': 'SOX9', 'score': 550.77}, {'connected_gene': 'LINC02097', 'score': 0.25}, {'connected_gene': 'SOX9-AS1', 'score': 0.13}]
chr17	GH17I072116	72116005	72117852	0.8	[{'connected_gene': 'SOX9', 'score': 0.77}, {'connected_gene': 'LINC02097', 'score': 0.26}, {'connected_gene': 'SOX9-AS1', 'score': 0.13}]
chr17	GH17I072118	72118001	72118916	0.94	[{'connected_gene': 'SOX9', 'score': 0.77}, {'connected_gene': 'LINC02097', 'score': 0.25}, {'connected_gene': 'SOX9-AS1', 'score': 0.13}]
chr17	GH17I072501	72501145	72503856	1.55	[{'connected_gene': 'SOX9', 'score': 1.82}, {'connected_gene': 'GC17M072441', 'score': 0.39}, {'connected_gene': 'GC17P072434', 'score': 0.2}, {'connected_gene': 'LINC00673', 'score': 0.16}, {'connected_gene': 'LINC00511', 'score': 0.12}]
chr17	GH17I072444	72444099	72447917	1.6	[{'connected_gene': 'C17orf80', 'score': 27.97}, {'connected_gene': 'CDC42EP4', 'score': 20.16}, {'connected_gene': 'COG1', 'score': 10.5}, {'connected_gene': 'SOX9', 'score': 2.28}, {'connected_gene': 'GC17P072434', 'score': 0.39}, {'connected_gene': 'GC17M072441', 'score': 0.19}, {'connected_gene': 'LINC00673', 'score': 0.11}, {'connected_gene': 'LINC00511', 'score': 0.08}]
chr17	GH17I072385	72385916	72388437	1.12	[{'connected_gene': 'LINC00511', 'score': 5.93}, {'connected_gene': 'SOX9', 'score': 5.0}, {'connected_gene': 'ENSG00000263680', 'score': 0.28}, {'connected_gene': 'LINC02003', 'score': 0.26}]
chr17	GH17I072390	72390350	72395364	1.18	[{'connected_gene': 'LINC00511', 'score': 4.68}, {'connected_gene': 'SOX9', 'score': 4.38}, {'connected_gene': 'ENSG00000263680', 'score': 0.29}, {'connected_gene': 'LINC02003', 'score': 0.23}]
chr17	GH17I072027	72027778	72027793	0.33	[{'connected_gene': 'ROCR', 'score': 9.11}, {'connected_gene': 'SOX9', 'score': 1.85}, {'connected_gene': 'LINC01152', 'score': 0.77}, {'connected_gene': 'PIR55106', 'score': 0.34}, {'connected_gene': 'GC17P072007', 'score': 0.34}]
chr17	GH17I072715	72715292	72717077	1.45	[{'connected_gene': 'GC17P072715', 'score': 550.77}, {'connected_gene': 'SOX9', 'score': 5.97}, {'connected_gene': 'SLC39A11', 'score': 5.34}, {'connected_gene': 'GC17P072756', 'score': 0.26}]