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
ENST00000301633	[[76210266, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76219545, 76221717]]	[[76210397, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76219545, 76219635]]
ENST00000350051	[[76210278, 76210508], [76210760, 76210870], [76212744, 76212862], [76219545, 76221717]]	[[76210397, 76210508], [76210760, 76210870], [76212744, 76212862], [76219545, 76219635]]
ENST00000590925	[[76210343, 76210508], [76210760, 76210870], [76212744, 76212862], [76218908, 76219073], [76219545, 76219635]]	[[76210397, 76210508], [76210760, 76210870], [76212744, 76212862], [76218908, 76218932]]
ENST00000374948	[[76210344, 76210508], [76210760, 76210870], [76219545, 76221717]]	[[76210397, 76210508], [76210760, 76210870], [76219545, 76219738]]
ENST00000590449	[[76210360, 76210508], [76210760, 76211180]]	[[76210397, 76210508], [76210760, 76210874]]
ENST00000592734	[[76210397, 76210508], [76210760, 76210870], [76218908, 76219073]]	[[76210397, 76210508], [76210760, 76210870], [76218908, 76218924]]
ENST00000592115	[[76210445, 76210508], [76210760, 76210870], [76212046, 76212862], [76218908, 76219060]]	None
ENST00000591800	[[76210465, 76210508], [76210760, 76210874], [76212046, 76212115], [76212744, 76212862], [76218908, 76219060]]	[[76210465, 76210508], [76210760, 76210874]]
ENST00000586192	[[76210465, 76210508], [76210760, 76210870], [76212046, 76212147], [76212744, 76212862], [76218908, 76219060]]	[[76210465, 76210508], [76210760, 76210870], [76212046, 76212143]]
ENST00000587746	[[76210465, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76218908, 76219060]]	[[76210465, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76218908, 76218932]]
ENST00000589892	[[76212507, 76212862], [76219545, 76219937]]	None
NM_001012270	[[76210276, 76210508], [76210760, 76210870], [76219545, 76221716]]	[[76210397, 76210508], [76210760, 76210870], [76219545, 76219738]]
NM_001168	[[76210276, 76210508], [76210760, 76210870], [76212744, 76212862], [76219545, 76221716]]	[[76210397, 76210508], [76210760, 76210870], [76212744, 76212862], [76219545, 76219635]]
NM_001012271	[[76210276, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76219545, 76221716]]	[[76210397, 76210508], [76210760, 76210870], [76212046, 76212115], [76212744, 76212862], [76219545, 76219635]]

Promoter

Chrom	Start	End	Description
chr17	76210318	76210366	CAGE_peak_1_at_BIRC5_5end
chr17	76210367	76210385	CAGE_peak_2_at_BIRC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I078349	78349920	78361809	2.63	[{'connected_gene': 'SOCS3', 'score': 575.03}, {'connected_gene': 'GC17M078357', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 47.57}, {'connected_gene': 'PGS1', 'score': 11.67}, {'connected_gene': 'ENGASE', 'score': 10.68}, {'connected_gene': 'LOC101928674', 'score': 8.38}, {'connected_gene': 'CYTH1', 'score': 6.91}, {'connected_gene': 'BIRC5', 'score': 6.15}, {'connected_gene': 'TMC6', 'score': 1.98}, {'connected_gene': 'TMC8', 'score': 1.19}, {'connected_gene': 'GC17P078347', 'score': 0.44}]
chr17	GH17I078228	78228342	78229033	0.31	[{'connected_gene': 'BIRC5', 'score': 12.6}, {'connected_gene': 'TK1', 'score': 11.68}, {'connected_gene': 'AFMID', 'score': 11.68}, {'connected_gene': 'SYNGR2', 'score': 10.99}, {'connected_gene': 'C17orf99', 'score': 10.96}, {'connected_gene': 'TNRC6C-AS1', 'score': 10.8}, {'connected_gene': 'PGS1', 'score': 10.68}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17	GH17I078226	78226500	78228249	1.07	[{'connected_gene': 'BIRC5', 'score': 13.63}, {'connected_gene': 'TK1', 'score': 11.74}, {'connected_gene': 'AFMID', 'score': 11.74}, {'connected_gene': 'SYNGR2', 'score': 11.15}, {'connected_gene': 'TNRC6C-AS1', 'score': 11.11}, {'connected_gene': 'C17orf99', 'score': 11.11}, {'connected_gene': 'PGS1', 'score': 10.87}, {'connected_gene': 'ENSG00000200063', 'score': 10.66}, {'connected_gene': 'GC17M078223', 'score': 0.77}, {'connected_gene': 'TMEM235', 'score': 0.77}]
chr17	GH17I078233	78233713	78235015	0.31	[{'connected_gene': 'BIRC5', 'score': 6.85}, {'connected_gene': 'THA1P', 'score': 6.81}, {'connected_gene': 'TMEM235', 'score': 0.77}, {'connected_gene': 'LOC105371910', 'score': 0.39}]
chr17	GH17I078213	78213620	78215223	2.06	[{'connected_gene': 'BIRC5', 'score': 563.52}, {'connected_gene': 'SEPT9', 'score': 13.81}, {'connected_gene': 'USP36', 'score': 12.46}, {'connected_gene': 'THA1P', 'score': 5.46}, {'connected_gene': 'GC17M078223', 'score': 0.39}]
chr17	GH17I078216	78216401	78216600	0.31	[{'connected_gene': 'BIRC5', 'score': 0.77}, {'connected_gene': 'GC17M078223', 'score': 0.44}]
chr17	GH17I078219	78219492	78220171	0.76	[{'connected_gene': 'BIRC5', 'score': 10.75}, {'connected_gene': 'GC17M078223', 'score': 0.77}]
chr17	GH17I078236	78236690	78238082	0.95	[{'connected_gene': 'TMEM235', 'score': 19.91}, {'connected_gene': 'BIRC5', 'score': 8.13}, {'connected_gene': 'THA1P', 'score': 7.79}, {'connected_gene': 'TNRC6C', 'score': 1.25}, {'connected_gene': 'LOC105371910', 'score': 0.39}]
chr17	GH17I078235	78232480	78232727	0.54	[{'connected_gene': 'TMEM235', 'score': 550.77}, {'connected_gene': 'BIRC5', 'score': 9.83}, {'connected_gene': 'LOC105371910', 'score': 0.37}]
chr17	GH17I079036	79036082	79039733	1.44	[{'connected_gene': 'C1QTNF1', 'score': 21.41}, {'connected_gene': 'ENGASE', 'score': 11.05}, {'connected_gene': 'CANT1', 'score': 11.02}, {'connected_gene': 'BIRC5', 'score': 5.09}, {'connected_gene': 'CYTH1', 'score': 5.01}, {'connected_gene': 'USP36', 'score': 1.59}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.39}]
chr17	GH17I079033	79033788	79034755	0.89	[{'connected_gene': 'C1QTNF1', 'score': 13.18}, {'connected_gene': 'BIRC5', 'score': 4.61}, {'connected_gene': 'C1QTNF1-AS1', 'score': 0.44}, {'connected_gene': 'ENGASE', 'score': 0.28}]
chr17	GH17I078222	78222539	78224413	0.66	[{'connected_gene': 'GC17M078223', 'score': 550.77}, {'connected_gene': 'BIRC5', 'score': 13.59}, {'connected_gene': 'THA1P', 'score': 5.45}]
chr17	GH17I078211	78211060	78211786	0.31	[{'connected_gene': 'ENSG00000267624', 'score': 550.77}, {'connected_gene': 'BIRC5', 'score': 13.51}, {'connected_gene': 'THA1P', 'score': 5.53}, {'connected_gene': 'PIR53496', 'score': 0.44}]
chr17	GH17I078995	78995011	78997185	0.76	[{'connected_gene': 'PIR52059', 'score': 550.77}, {'connected_gene': 'GC17M079104', 'score': 550.77}, {'connected_gene': 'GC17M079090', 'score': 550.77}, {'connected_gene': 'PIR56301', 'score': 550.77}, {'connected_gene': 'PIR47743', 'score': 550.77}, {'connected_gene': 'GC17M079095', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 10.77}, {'connected_gene': 'BIRC5', 'score': 5.49}, {'connected_gene': 'GC17M079108', 'score': 0.77}, {'connected_gene': 'PIR40001', 'score': 0.77}]
chr17	GH17I078999	78999986	79002116	0.46	[{'connected_gene': 'GC17P079001', 'score': 550.77}, {'connected_gene': 'GC17M079109', 'score': 550.77}, {'connected_gene': 'CANT1', 'score': 12.65}, {'connected_gene': 'C1QTNF1', 'score': 11.51}, {'connected_gene': 'BIRC5', 'score': 6.04}]