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
ENST00000280155	[[112836789, 112840658]]	[[112837754, 112839152]]
NM_000681	[[112836789, 112840665]]	[[112837754, 112839152]]

Promoter

Chrom	Start	End	Description
chr10	112836589	112836607	CAGE_peak_3_at_ADRA2A_5end
chr10	112836760	112836771	CAGE_peak_2_at_ADRA2A_5end
chr10	112836779	112836797	CAGE_peak_1_at_ADRA2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I110915	110915855	110921753	2.31	[{'connected_gene': 'BBIP1', 'score': 568.21}, {'connected_gene': 'SHOC2', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 27.58}, {'connected_gene': 'SMNDC1', 'score': 21.11}, {'connected_gene': 'XPNPEP1', 'score': 19.23}, {'connected_gene': 'ENSG00000270589', 'score': 15.54}, {'connected_gene': 'ADRA2A', 'score': 5.7}, {'connected_gene': 'PDCD4', 'score': 5.64}]
chr10	GH10I110649	110649391	110650935	0.79	[{'connected_gene': 'SMC3', 'score': 56.88}, {'connected_gene': 'XPNPEP1', 'score': 22.24}, {'connected_gene': 'ADRA2A', 'score': 19.52}, {'connected_gene': 'SMNDC1', 'score': 14.39}, {'connected_gene': 'BBIP1', 'score': 10.91}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'RBM20', 'score': 5.05}, {'connected_gene': 'GC10P110732', 'score': 0.18}]
chr10	GH10I110884	110884737	110887074	0.73	[{'connected_gene': 'SHOC2', 'score': 11.35}, {'connected_gene': 'BBIP1', 'score': 11.35}, {'connected_gene': 'ENSG00000270589', 'score': 4.98}, {'connected_gene': 'ADRA2A', 'score': 4.12}, {'connected_gene': 'PDCD4-AS1', 'score': 0.39}, {'connected_gene': 'MIR4680', 'score': 0.39}, {'connected_gene': 'PDCD4', 'score': 0.39}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110992	110992451	110993852	0.74	[{'connected_gene': 'SHOC2', 'score': 11.28}, {'connected_gene': 'BBIP1', 'score': 11.28}, {'connected_gene': 'ADRA2A', 'score': 10.15}, {'connected_gene': 'PDCD4', 'score': 10.08}, {'connected_gene': 'ENSG00000232470', 'score': 10.08}, {'connected_gene': 'MIR548E', 'score': 0.77}, {'connected_gene': 'GC10P111035', 'score': 0.26}]
chr10	GH10I110972	110972601	110972800	0.2	[{'connected_gene': 'SHOC2', 'score': 11.34}, {'connected_gene': 'BBIP1', 'score': 11.34}, {'connected_gene': 'ADRA2A', 'score': 10.13}, {'connected_gene': 'MIR548E', 'score': 0.37}, {'connected_gene': 'RPL13AP6', 'score': 0.28}]
chr10	GH10I111102	111102888	111104252	0.31	[{'connected_gene': 'LOC724065', 'score': 550.77}, {'connected_gene': 'GC10P111105', 'score': 550.77}, {'connected_gene': 'ADRA2A', 'score': 12.04}, {'connected_gene': 'BBIP1', 'score': 11.93}, {'connected_gene': 'ENSG00000270589', 'score': 4.22}, {'connected_gene': 'PIR58551', 'score': 0.31}]
chr10	GH10I110818	110818202	110825280	1.41	[{'connected_gene': 'PDCD4', 'score': 20.65}, {'connected_gene': 'SMC3', 'score': 15.48}, {'connected_gene': 'PDCD4-AS1', 'score': 12.23}, {'connected_gene': 'ENSG00000232470', 'score': 11.66}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'RBM20', 'score': 9.47}, {'connected_gene': 'ADRA2A', 'score': 2.74}, {'connected_gene': 'RNA5SP327', 'score': 0.21}, {'connected_gene': 'GC10P110732', 'score': 0.17}]
chr10	GH10I110857	110857171	110875168	2.84	[{'connected_gene': 'PDCD4', 'score': 560.9}, {'connected_gene': 'SHOC2', 'score': 22.11}, {'connected_gene': 'SMC3', 'score': 10.6}, {'connected_gene': 'BBIP1', 'score': 8.39}, {'connected_gene': 'ADRA2A', 'score': 5.97}, {'connected_gene': 'ENSG00000270589', 'score': 4.6}, {'connected_gene': 'DUSP5', 'score': 1.95}, {'connected_gene': 'ENSG00000232470', 'score': 0.77}, {'connected_gene': 'PDCD4-AS1', 'score': 0.44}, {'connected_gene': 'RNA5SP327', 'score': 0.14}, {'connected_gene': 'GC10P110732', 'score': 0.12}]
chr10	GH10I110756	110756901	110760191	0.96	[{'connected_gene': 'PDCD4', 'score': 10.89}, {'connected_gene': 'ENSG00000232470', 'score': 10.89}, {'connected_gene': 'ADRA2A', 'score': 9.39}, {'connected_gene': 'RBM20', 'score': 7.03}, {'connected_gene': 'RN7SKP288', 'score': 0.77}, {'connected_gene': 'RNA5SP327', 'score': 0.77}, {'connected_gene': 'GC10P110732', 'score': 0.31}]
chr10	GH10I111136	111136276	111138080	0.54	[{'connected_gene': 'ADRA2A', 'score': 11.72}, {'connected_gene': 'BBIP1', 'score': 4.55}, {'connected_gene': 'GC10P111105', 'score': 0.29}, {'connected_gene': 'BTBD7P2', 'score': 0.09}]
chr10	GH10I111076	111076183	111078198	1.89	[{'connected_gene': 'ADRA2A', 'score': 554.99}, {'connected_gene': 'PIR58551', 'score': 550.77}, {'connected_gene': 'GC10P111079', 'score': 550.77}, {'connected_gene': 'PIR36818', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 23.18}, {'connected_gene': 'SMNDC1', 'score': 15.39}, {'connected_gene': 'BBIP1', 'score': 10.95}]
chr10	GH10I110923	110923472	110924892	0.76	[{'connected_gene': 'ADRA2A', 'score': 9.62}, {'connected_gene': 'SHOC2', 'score': 7.18}, {'connected_gene': 'PDCD4', 'score': 5.55}, {'connected_gene': 'ADD3', 'score': 4.13}, {'connected_gene': 'RPL13AP6', 'score': 0.39}]
chr10	GH10I110848	110848390	110848736	0.59	[{'connected_gene': 'ADRA2A', 'score': 4.97}, {'connected_gene': 'ENSG00000232470', 'score': 0.34}, {'connected_gene': 'RNA5SP327', 'score': 0.17}, {'connected_gene': 'GC10P110732', 'score': 0.13}]
chr10	GH10I111347	111347723	111347890	0.31	[{'connected_gene': 'ADRA2A', 'score': 10.21}, {'connected_gene': 'ENSG00000227851', 'score': 0.77}, {'connected_gene': 'BTBD7P2', 'score': 0.31}]
chr10	GH10I111200	111200923	111201032	0.2	[{'connected_gene': 'ADRA2A', 'score': 12.34}, {'connected_gene': 'GC10P111105', 'score': 0.15}, {'connected_gene': 'BTBD7P2', 'score': 0.13}]
chr10	GH10I110754	110754720	110755503	0.43	[{'connected_gene': 'RN7SKP288', 'score': 550.77}, {'connected_gene': 'ENSG00000232470', 'score': 10.89}, {'connected_gene': 'PDCD4', 'score': 10.88}, {'connected_gene': 'ADRA2A', 'score': 9.81}, {'connected_gene': 'PIR36843', 'score': 0.44}, {'connected_gene': 'GC10P110732', 'score': 0.34}, {'connected_gene': 'RBM20', 'score': 0.14}]
chr10	GH10I110664	110664715	110665772	1.35	[{'connected_gene': 'SMNDC1', 'score': 24.04}, {'connected_gene': 'XPNPEP1', 'score': 21.8}, {'connected_gene': 'SMC3', 'score': 17.06}, {'connected_gene': 'RBM20', 'score': 12.73}, {'connected_gene': 'ENSG00000223302', 'score': 12.73}, {'connected_gene': 'ADRA2A', 'score': 11.41}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'GC10P110732', 'score': 0.2}]
chr10	GH10I110895	110895414	110897688	0.59	[{'connected_gene': 'MIR4680', 'score': 550.77}, {'connected_gene': 'PDCD4', 'score': 11.05}, {'connected_gene': 'ENSG00000232470', 'score': 11.02}, {'connected_gene': 'SHOC2', 'score': 6.71}, {'connected_gene': 'ADRA2A', 'score': 5.49}, {'connected_gene': 'ENSG00000270589', 'score': 4.76}, {'connected_gene': 'PDCD4-AS1', 'score': 0.34}, {'connected_gene': 'GC10P110732', 'score': 0.1}]
chr10	GH10I110750	110750996	110751274	0.62	[{'connected_gene': 'ENSG00000232470', 'score': 11.22}, {'connected_gene': 'PDCD4', 'score': 11.22}, {'connected_gene': 'ADRA2A', 'score': 1.29}, {'connected_gene': 'PIR36843', 'score': 0.44}, {'connected_gene': 'RN7SKP288', 'score': 0.44}, {'connected_gene': 'GC10P110732', 'score': 0.37}, {'connected_gene': 'RBM20', 'score': 0.14}]
chr10	GH10I111079	111079299	111080652	0.52	[{'connected_gene': 'PIR58551', 'score': 550.77}, {'connected_gene': 'GC10P111079', 'score': 550.77}, {'connected_gene': 'PIR36818', 'score': 550.77}, {'connected_gene': 'ADRA2A', 'score': 5.03}, {'connected_gene': 'LOC724065', 'score': 0.34}]