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
ENST00000431468	[[26691289, 26691670], [26691816, 26691977], [26692142, 26692265]]	[[26691289, 26691670], [26691816, 26691977], [26692142, 26692251]]
ENST00000438614	[[26691289, 26691670], [26691816, 26691977], [26694471, 26694502], [26694735, 26694987]]	[[26691289, 26691670], [26691816, 26691977], [26694471, 26694502], [26694735, 26694810]]
ENST00000536498	[[26691289, 26691670], [26691816, 26691977], [26694471, 26694502], [26694735, 26695080], [26695541, 26695694], [26695892, 26696049], [26696309, 26696449], [26696527, 26696872], [26696947, 26697067], [26697160, 26697373]]	[[26691289, 26691670], [26691816, 26691977], [26694471, 26694502], [26694735, 26694810]]
ENST00000226218	[[26694296, 26694502], [26694735, 26695080], [26695541, 26695694], [26695892, 26696049], [26696309, 26696449], [26696527, 26696872], [26696947, 26697067], [26697160, 26697843]]	[[26694389, 26694502], [26694735, 26695080], [26695541, 26695694], [26695892, 26696049], [26696309, 26696449], [26696527, 26696872], [26696947, 26697067], [26697160, 26697224]]
ENST00000539746	[[26694888, 26695080], [26695541, 26695958]]	None
ENST00000542029	[[26696702, 26696872], [26696947, 26697067], [26697160, 26697291], [26700030, 26700110]]	[[26696702, 26696872], [26696947, 26697067], [26697160, 26697224]]
NM_000638	[[26694297, 26694502], [26694735, 26695080], [26695541, 26695694], [26695892, 26696049], [26696309, 26696449], [26696527, 26696872], [26696947, 26697067], [26697160, 26697373]]	[[26694389, 26694502], [26694735, 26695080], [26695541, 26695694], [26695892, 26696049], [26696309, 26696449], [26696527, 26696872], [26696947, 26697067], [26697160, 26697224]]

Promoter

Chrom	Start	End	Description
chr17	26695597	26695608	CAGE_peak_14_at_VTN_5end
chr17	26695640	26695652	CAGE_peak_8_at_VTN_5end
chr17	26695674	26695696	CAGE_peak_6_at_VTN_5end
chr17	26695936	26695947	CAGE_peak_5_at_VTN_5end
chr17	26695977	26695984	CAGE_peak_15_at_VTN_5end
chr17	26695992	26696010	CAGE_peak_4_at_VTN_5end
chr17	26696040	26696048	CAGE_peak_10_at_VTN_5end
chr17	26696346	26696357	CAGE_peak_7_at_VTN_5end
chr17	26696370	26696383	CAGE_peak_9_at_VTN_5end
chr17	26697257	26697268	CAGE_peak_3_at_SEBOX_5end,CAGE_peak_3_at_VTN_5end
chr17	26697276	26697303	CAGE_peak_2_at_SEBOX_5end,CAGE_peak_2_at_VTN_5end
chr17	26697304	26697335	CAGE_peak_1_at_SEBOX_5end,CAGE_peak_1_at_VTN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028384	28384087	28385988	1.23	[{'connected_gene': 'PIGS', 'score': 9.79}, {'connected_gene': 'VTN', 'score': 7.79}, {'connected_gene': 'ENSG00000279532', 'score': 0.39}, {'connected_gene': 'GC17M029117', 'score': 0.37}, {'connected_gene': 'SARM1', 'score': 0.34}]
chr17	GH17I028345	28345085	28348479	1.23	[{'connected_gene': 'VTN', 'score': 8.12}, {'connected_gene': 'PIR31294', 'score': 0.77}, {'connected_gene': 'PIR62966', 'score': 0.44}, {'connected_gene': 'TNFAIP1', 'score': 0.39}, {'connected_gene': 'POLDIP2', 'score': 0.39}]
chr17	GH17I028368	28368919	28372730	2.07	[{'connected_gene': 'VTN', 'score': 560.89}, {'connected_gene': 'SARM1', 'score': 550.44}, {'connected_gene': 'SUPT6H', 'score': 20.37}, {'connected_gene': 'NUFIP2', 'score': 18.38}, {'connected_gene': 'ENSG00000264577', 'score': 17.5}, {'connected_gene': 'PHF12', 'score': 17.08}, {'connected_gene': 'ENSG00000265908', 'score': 14.91}, {'connected_gene': 'ENSG00000265205', 'score': 13.85}, {'connected_gene': 'ITM2BP1', 'score': 12.65}, {'connected_gene': 'TMEM199', 'score': 11.92}, {'connected_gene': 'LOC101927018', 'score': 11.35}, {'connected_gene': 'PIGS', 'score': 10.91}, {'connected_gene': 'SDF2', 'score': 10.59}, {'connected_gene': 'ENSG00000273171', 'score': 0.77}, {'connected_gene': 'ENSG00000258924', 'score': 0.39}]
chr17	GH17I028111	28111753	28113428	0.83	[{'connected_gene': 'VTN', 'score': 5.24}, {'connected_gene': 'RPS29P22', 'score': 0.77}, {'connected_gene': 'GC17M028077', 'score': 0.31}, {'connected_gene': 'NLK', 'score': 0.19}]
chr17	GH17I028333	28333915	28339817	2.29	[{'connected_gene': 'TNFAIP1', 'score': 550.77}, {'connected_gene': 'IFT20', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 26.21}, {'connected_gene': 'ENSG00000264577', 'score': 24.74}, {'connected_gene': 'NUFIP2', 'score': 24.02}, {'connected_gene': 'ITM2BP1', 'score': 20.74}, {'connected_gene': 'RPL23A', 'score': 12.34}, {'connected_gene': 'TMEM97', 'score': 12.33}, {'connected_gene': 'NEK8', 'score': 12.23}, {'connected_gene': 'POLDIP2', 'score': 12.21}, {'connected_gene': 'TMEM199', 'score': 12.02}, {'connected_gene': 'LOC101927018', 'score': 11.86}, {'connected_gene': 'ENSG00000265474', 'score': 11.23}, {'connected_gene': 'ENSG00000265908', 'score': 10.58}, {'connected_gene': 'PHF12', 'score': 10.52}, {'connected_gene': 'RAB34', 'score': 10.21}, {'connected_gene': 'VTN', 'score': 7.78}, {'connected_gene': 'PIR55130', 'score': 0.44}]
chr17	GH17I028317	28317529	28321207	2.04	[{'connected_gene': 'TMEM97', 'score': 564.02}, {'connected_gene': 'PIR55263', 'score': 550.77}, {'connected_gene': 'KRT18P55', 'score': 550.77}, {'connected_gene': 'LOC101927018', 'score': 31.72}, {'connected_gene': 'SUPT6H', 'score': 30.82}, {'connected_gene': 'NUFIP2', 'score': 28.42}, {'connected_gene': 'ENSG00000264577', 'score': 27.01}, {'connected_gene': 'PHF12', 'score': 25.72}, {'connected_gene': 'ENSG00000265908', 'score': 24.26}, {'connected_gene': 'ITM2BP1', 'score': 19.95}, {'connected_gene': 'TMEM199', 'score': 19.62}, {'connected_gene': 'PIGS', 'score': 12.45}, {'connected_gene': 'SDF2', 'score': 12.45}, {'connected_gene': 'ENSG00000265205', 'score': 11.58}, {'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.34}, {'connected_gene': 'TRAF4', 'score': 4.67}, {'connected_gene': 'GC17M029020', 'score': 0.39}]
chr17	GH17I028393	28393995	28399737	0.8	[{'connected_gene': 'POLDIP2', 'score': 23.36}, {'connected_gene': 'VTN', 'score': 11.72}, {'connected_gene': 'SARM1', 'score': 11.68}, {'connected_gene': 'TMEM199', 'score': 11.66}, {'connected_gene': 'TNFAIP1', 'score': 11.29}, {'connected_gene': 'IFT20', 'score': 11.29}, {'connected_gene': 'FOXN1', 'score': 10.81}, {'connected_gene': 'UNC119', 'score': 10.44}, {'connected_gene': 'PIGS', 'score': 10.43}, {'connected_gene': 'GC17M029117', 'score': 0.77}, {'connected_gene': 'SLC46A1', 'score': 0.39}, {'connected_gene': 'ENSG00000279532', 'score': 0.34}]
chr17	GH17I028355	28355865	28358706	2.06	[{'connected_gene': 'TMEM199', 'score': 561.24}, {'connected_gene': 'POLDIP2', 'score': 550.77}, {'connected_gene': 'ENSG00000258924', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 28.82}, {'connected_gene': 'SARM1', 'score': 12.1}, {'connected_gene': 'ITM2BP1', 'score': 11.93}, {'connected_gene': 'PHF12', 'score': 11.83}, {'connected_gene': 'SLC46A1', 'score': 11.21}, {'connected_gene': 'NUFIP2', 'score': 10.75}, {'connected_gene': 'UNC119', 'score': 9.92}, {'connected_gene': 'PIGS', 'score': 9.92}, {'connected_gene': 'ENSG00000264577', 'score': 9.7}, {'connected_gene': 'VTN', 'score': 7.09}, {'connected_gene': 'TRAF4', 'score': 5.05}, {'connected_gene': 'PIR62966', 'score': 0.77}]
chr17	GH17I028323	28323955	28326871	0.94	[{'connected_gene': 'SLC46A1', 'score': 10.61}, {'connected_gene': 'VTN', 'score': 10.24}, {'connected_gene': 'TRAF4', 'score': 4.73}, {'connected_gene': 'GC17M029020', 'score': 0.77}, {'connected_gene': 'TMEM97', 'score': 0.44}]