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
ENST00000392865	[[121259339, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121295975, 121296045]]	[[121259624, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121295975, 121295982]]
ENST00000369101	[[121259436, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286989]]	[[121259624, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286961]]
ENST00000369103	[[121259436, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121302101, 121302220]]	[[121259624, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121302101, 121302150]]
ENST00000469575	[[121259591, 121259771], [121274894, 121274967], [121285543, 121285606]]	None
ENST00000473563	[[121275034, 121275164], [121275845, 121276000]]	None
NM_002925	[[121259338, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121295975, 121296045]]	[[121259624, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121295975, 121295982]]
NM_001005339	[[121259338, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121302101, 121302222]]	[[121259624, 121259771], [121275020, 121275164], [121285543, 121285630], [121286817, 121286936], [121302101, 121302150]]

Promoter

Chrom	Start	End	Description
chr10	121296048	121296068	CAGE_peak_3_at_RGS10_5end
chr10	121296088	121296103	CAGE_peak_4_at_RGS10_5end
chr10	121302164	121302191	CAGE_peak_2_at_RGS10_5end
chr10	121302195	121302245	CAGE_peak_1_at_RGS10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I119526	119526523	119527722	0.58	[{'connected_gene': 'TIAL1', 'score': 11.53}, {'connected_gene': 'EIF3A', 'score': 9.98}, {'connected_gene': 'ENSG00000222588', 'score': 9.98}, {'connected_gene': 'SNORA19', 'score': 9.98}, {'connected_gene': 'RGS10', 'score': 4.63}, {'connected_gene': 'FAM45A', 'score': 4.39}, {'connected_gene': 'GC10P119418', 'score': 0.14}]
chr10	GH10I119530	119530545	119531912	0.31	[{'connected_gene': 'TIAL1', 'score': 11.53}, {'connected_gene': 'EIF3A', 'score': 9.98}, {'connected_gene': 'ENSG00000222588', 'score': 9.98}, {'connected_gene': 'SNORA19', 'score': 9.98}, {'connected_gene': 'RGS10', 'score': 0.39}, {'connected_gene': 'GC10P119418', 'score': 0.14}]
chr10	GH10I119508	119508122	119509044	0.2	[{'connected_gene': 'TIAL1', 'score': 11.35}, {'connected_gene': 'RGS10', 'score': 0.29}, {'connected_gene': 'GC10P119418', 'score': 0.16}]
chr10	GH10I119476	119476869	119477221	0.38	[{'connected_gene': 'TIAL1', 'score': 10.4}, {'connected_gene': 'GC10P119418', 'score': 0.22}, {'connected_gene': 'RGS10', 'score': 0.2}]
chr10	GH10I119510	119510029	119510178	0.58	[{'connected_gene': 'TIAL1', 'score': 11.35}, {'connected_gene': 'RGS10', 'score': 0.29}, {'connected_gene': 'GC10P119418', 'score': 0.16}]
chr10	GH10I119521	119521409	119523778	1.21	[{'connected_gene': 'TIAL1', 'score': 11.36}, {'connected_gene': 'RGS10', 'score': 0.34}, {'connected_gene': 'GC10P119418', 'score': 0.15}]
chr10	GH10I119506	119506858	119507720	0.2	[{'connected_gene': 'TIAL1', 'score': 11.35}, {'connected_gene': 'RGS10', 'score': 0.28}, {'connected_gene': 'GC10P119418', 'score': 0.17}]
chr10	GH10I119522	119521095	119521351	0.4	[{'connected_gene': 'TIAL1', 'score': 11.35}, {'connected_gene': 'RGS10', 'score': 0.34}, {'connected_gene': 'GC10P119418', 'score': 0.15}]
chr10	GH10I119594	119594834	119598085	2.09	[{'connected_gene': 'TIAL1', 'score': 575.61}, {'connected_gene': 'LOC105378512', 'score': 550.77}, {'connected_gene': 'GC10P119597', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 24.02}, {'connected_gene': 'MCMBP', 'score': 21.86}, {'connected_gene': 'ENSG00000271353', 'score': 5.36}, {'connected_gene': 'RGS10', 'score': 4.96}]
chr10	GH10I119515	119515250	119520673	1.54	[{'connected_gene': 'RGS10', 'score': 14.67}, {'connected_gene': 'TIAL1', 'score': 11.35}, {'connected_gene': 'EIF3A', 'score': 1.66}, {'connected_gene': 'GC10P119418', 'score': 0.15}]
chr10	GH10I119458	119458110	119459657	0.31	[{'connected_gene': 'RGS10', 'score': 12.02}, {'connected_gene': 'TIAL1', 'score': 10.64}, {'connected_gene': 'GC10P119418', 'score': 0.26}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10	GH10I119504	119504491	119506759	0.73	[{'connected_gene': 'RGS10', 'score': 12.63}, {'connected_gene': 'TIAL1', 'score': 11.34}, {'connected_gene': 'GC10P119418', 'score': 0.17}]
chr10	GH10I119498	119498344	119503961	1.25	[{'connected_gene': 'RGS10', 'score': 12.61}, {'connected_gene': 'TIAL1', 'score': 11.31}, {'connected_gene': 'GC10P119418', 'score': 0.18}]
chr10	GH10I119477	119477526	119479307	1.09	[{'connected_gene': 'RGS10', 'score': 11.08}, {'connected_gene': 'TIAL1', 'score': 10.4}, {'connected_gene': 'GC10P119418', 'score': 0.21}]
chr10	GH10I119511	119511665	119512626	0.43	[{'connected_gene': 'RGS10', 'score': 12.47}, {'connected_gene': 'TIAL1', 'score': 11.07}, {'connected_gene': 'GC10P119418', 'score': 0.16}]
chr10	GH10I119494	119493883	119496740	1.21	[{'connected_gene': 'RGS10', 'score': 11.62}, {'connected_gene': 'TIAL1', 'score': 11.28}, {'connected_gene': 'GC10P119418', 'score': 0.18}]
chr10	GH10I119267	119267339	119276144	1.74	[{'connected_gene': 'RGS10', 'score': 10.87}, {'connected_gene': 'GRK5', 'score': 5.82}, {'connected_gene': 'SFXN4', 'score': 5.36}, {'connected_gene': 'EIF3A', 'score': 1.24}, {'connected_gene': 'GC10P119246', 'score': 0.31}, {'connected_gene': 'LOC105378511', 'score': 0.21}]
chr10	GH10I119264	119264200	119264800	0.58	[{'connected_gene': 'RGS10', 'score': 10.87}, {'connected_gene': 'GC10P119246', 'score': 0.37}, {'connected_gene': 'GRK5', 'score': 0.22}, {'connected_gene': 'LOC105378511', 'score': 0.19}]
chr10	GH10I119430	119430279	119431914	0.49	[{'connected_gene': 'RGS10', 'score': 11.63}, {'connected_gene': 'GC10P119418', 'score': 0.39}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10	GH10I119480	119480617	119481096	0.31	[{'connected_gene': 'RGS10', 'score': 11.52}, {'connected_gene': 'INPP5F', 'score': 4.45}, {'connected_gene': 'GC10P119418', 'score': 0.21}]
chr10	GH10I119580	119580359	119580701	0.4	[{'connected_gene': 'RGS10', 'score': 11.22}, {'connected_gene': 'LOC105378512', 'score': 0.37}, {'connected_gene': 'TIAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000271353', 'score': 0.37}]
chr10	GH10I119569	119569323	119569726	0.46	[{'connected_gene': 'RGS10', 'score': 11.67}, {'connected_gene': 'ENSG00000271353', 'score': 0.44}, {'connected_gene': 'LOC105378512', 'score': 0.31}]
chr10	GH10I119374	119374469	119376547	0.92	[{'connected_gene': 'RGS10', 'score': 10.93}, {'connected_gene': 'MIR4681', 'score': 0.77}, {'connected_gene': 'LOC105378511', 'score': 0.28}, {'connected_gene': 'GRK5', 'score': 0.1}]
chr10	GH10I119493	119493143	119493679	0.6	[{'connected_gene': 'RGS10', 'score': 0.25}, {'connected_gene': 'GC10P119418', 'score': 0.18}]
chr10	GH10I119479	119479709	119479858	0.69	[{'connected_gene': 'RGS10', 'score': 11.08}, {'connected_gene': 'GC10P119418', 'score': 0.21}]
chr10	GH10I119537	119537423	119540293	1.01	[{'connected_gene': 'RGS10', 'score': 6.44}, {'connected_gene': 'GC10P119418', 'score': 0.13}]
chr10	GH10I119535	119535555	119536968	1.44	[{'connected_gene': 'RGS10', 'score': 556.11}, {'connected_gene': 'GC10P119418', 'score': 0.13}]
chr10	GH10I119540	119540790	119544660	2.2	[{'connected_gene': 'RGS10', 'score': 556.08}, {'connected_gene': 'ENSG00000271353', 'score': 0.37}]
chr10	GH10I119489	119489086	119490360	1.56	[{'connected_gene': 'RGS10', 'score': 0.23}, {'connected_gene': 'GC10P119418', 'score': 0.19}]
chr10	GH10I119449	119449673	119450951	0.69	[{'connected_gene': 'GRK5', 'score': 4.34}, {'connected_gene': 'GC10P119418', 'score': 0.29}, {'connected_gene': 'RGS10', 'score': 0.16}]
chr10	GH10I119444	119444949	119445929	0.94	[{'connected_gene': 'GRK5', 'score': 4.56}, {'connected_gene': 'GC10P119418', 'score': 0.31}, {'connected_gene': 'RGS10', 'score': 0.15}]
chr10	GH10I119403	119403802	119416580	1.52	[{'connected_gene': 'GRK5', 'score': 16.46}, {'connected_gene': 'GRK5-IT1', 'score': 12.38}, {'connected_gene': 'RGS10', 'score': 10.86}, {'connected_gene': 'GC10P119418', 'score': 0.44}, {'connected_gene': 'MIR4681', 'score': 0.29}]
chr10	GH10I119438	119438755	119440020	0.31	[{'connected_gene': 'GC10P119418', 'score': 0.34}, {'connected_gene': 'RGS10', 'score': 0.15}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10	GH10I119440	119440821	119442870	0.94	[{'connected_gene': 'GC10P119418', 'score': 0.34}, {'connected_gene': 'RGS10', 'score': 0.15}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10	GH10I119454	119454549	119454638	0.31	[{'connected_gene': 'GC10P119418', 'score': 0.28}, {'connected_gene': 'RGS10', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.07}]
chr10	GH10I119420	119420869	119423252	0.77	[{'connected_gene': 'GC10P119418', 'score': 0.77}, {'connected_gene': 'RGS10', 'score': 0.13}, {'connected_gene': 'GRK5', 'score': 0.08}]
chr10	GH10I119466	119466769	119466918	0.43	[{'connected_gene': 'GC10P119418', 'score': 0.25}, {'connected_gene': 'RGS10', 'score': 0.18}]