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
ENST00000046640	[[3539761, 3540125], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3564832]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563663]]
ENST00000381870	[[3539772, 3540002], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3564836]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3564028]]
ENST00000452111	[[3540018, 3540181], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225]]
ENST00000574776	[[3540022, 3540125], [3540400, 3540610], [3543481, 3543561], [3558514, 3558646], [3559780, 3559820]]	[[3558626, 3558646], [3559780, 3559820]]
ENST00000441220	[[3540022, 3540125], [3540400, 3540610], [3543481, 3543561], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3564331]]	[[3543556, 3543561], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3564028]]
ENST00000414524	[[3540025, 3540125], [3540400, 3540610], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563980]]	[[3558626, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563663]]
ENST00000495445	[[3540040, 3540125], [3540400, 3540610], [3543481, 3543561], [3550737, 3550898]]	None
ENST00000467663	[[3540051, 3540125], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3558291, 3558395], [3558514, 3558557]]	[[3543500, 3543561], [3550737, 3550816], [3558291, 3558313]]
ENST00000488623	[[3540053, 3540125], [3540400, 3540610], [3550737, 3550816], [3552140, 3552225], [3558291, 3558382]]	None
ENST00000574218	[[3540055, 3540125], [3540400, 3540610], [3558291, 3558395], [3558514, 3558646], [3559780, 3559845]]	[[3558626, 3558646], [3559780, 3559845]]
ENST00000399306	[[3540397, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225], [3553467, 3553813]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3553467, 3553611]]
ENST00000576979	[[3543440, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559807]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559807]]
NM_001031681	[[3539761, 3540002], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3566397]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563644], [3563910, 3564028]]
NM_004937	[[3539761, 3540125], [3540400, 3540610], [3543481, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3566397]]	[[3543500, 3543561], [3550737, 3550816], [3552140, 3552225], [3558291, 3558395], [3558514, 3558646], [3559780, 3559880], [3559969, 3560089], [3561298, 3561469], [3563151, 3563269], [3563529, 3563663]]

Promoter

Chrom	Start	End	Description
chr17	3539744	3539804	CAGE_peak_3_at_CTNS_5end
chr17	3539824	3539840	CAGE_peak_4_at_CTNS_5end
chr17	3539998	3540036	CAGE_peak_2_at_CTNS_5end
chr17	3540043	3540065	CAGE_peak_1_at_CTNS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I003791	3791400	3792200	1.18	[{'connected_gene': 'HASPIN', 'score': 11.98}, {'connected_gene': 'NCBP3', 'score': 11.47}, {'connected_gene': 'EMC6', 'score': 11.22}, {'connected_gene': 'TAX1BP3', 'score': 11.22}, {'connected_gene': 'CTNS', 'score': 2.97}, {'connected_gene': 'ZZEF1', 'score': 2.4}, {'connected_gene': 'P2RX1', 'score': 1.35}, {'connected_gene': 'ITGAE', 'score': 0.44}, {'connected_gene': 'ENSG00000262358', 'score': 0.21}]
chr17	GH17I002924	2924201	2926834	1.25	[{'connected_gene': 'METTL16', 'score': 23.93}, {'connected_gene': 'HNRNPA1P16', 'score': 23.12}, {'connected_gene': 'LOC105371492', 'score': 22.72}, {'connected_gene': 'SMG6', 'score': 18.1}, {'connected_gene': 'RN7SL608P', 'score': 12.93}, {'connected_gene': 'ENSG00000263050', 'score': 12.46}, {'connected_gene': 'DPH1', 'score': 12.13}, {'connected_gene': 'RPL21P125', 'score': 11.97}, {'connected_gene': 'ENSG00000262692', 'score': 10.9}, {'connected_gene': 'HIC1', 'score': 10.08}, {'connected_gene': 'MNT', 'score': 10.07}, {'connected_gene': 'CTNS', 'score': 9.85}, {'connected_gene': 'GC17P002937', 'score': 0.39}, {'connected_gene': 'GC17M002899', 'score': 0.37}, {'connected_gene': 'RAP1GAP2', 'score': 0.1}]
chr17	GH17I002975	2975027	2976368	1.42	[{'connected_gene': 'METTL16', 'score': 26.38}, {'connected_gene': 'LOC105371492', 'score': 22.91}, {'connected_gene': 'RN7SL608P', 'score': 12.92}, {'connected_gene': 'RPL21P125', 'score': 11.97}, {'connected_gene': 'SMG6', 'score': 11.18}, {'connected_gene': 'ENSG00000262692', 'score': 10.9}, {'connected_gene': 'HNRNPA1P16', 'score': 10.56}, {'connected_gene': 'HIC1', 'score': 10.08}, {'connected_gene': 'CTNS', 'score': 9.85}, {'connected_gene': 'RAP1GAP2', 'score': 8.64}, {'connected_gene': 'GC17M002981', 'score': 0.44}, {'connected_gene': 'LOC101927911', 'score': 0.44}]
chr17	GH17I003959	3959060	3968077	2.72	[{'connected_gene': 'ATP2A3', 'score': 559.89}, {'connected_gene': 'ZZEF1', 'score': 16.44}, {'connected_gene': 'NCBP3', 'score': 10.73}, {'connected_gene': 'CYB5D2', 'score': 10.27}, {'connected_gene': 'LINC01975', 'score': 6.78}, {'connected_gene': 'P2RX1', 'score': 4.93}, {'connected_gene': 'CTNS', 'score': 1.54}, {'connected_gene': 'GC17P003938', 'score': 0.34}]
chr17	GH17I003798	3798002	3806070	2.16	[{'connected_gene': 'ITGAE', 'score': 550.77}, {'connected_gene': 'HASPIN', 'score': 11.95}, {'connected_gene': 'P2RX5', 'score': 11.53}, {'connected_gene': 'NCBP3', 'score': 5.11}, {'connected_gene': 'ZZEF1', 'score': 3.18}, {'connected_gene': 'CTNS', 'score': 2.55}, {'connected_gene': 'P2RX1', 'score': 1.72}, {'connected_gene': 'GC17M003807', 'score': 0.44}]
chr17	GH17I003665	3665838	3670016	2.24	[{'connected_gene': 'TAX1BP3', 'score': 571.94}, {'connected_gene': 'EMC6', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 16.81}, {'connected_gene': 'P2RX5', 'score': 11.5}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'RPL21P125', 'score': 0.77}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.31}]
chr17	GH17I003683	3683760	3683956	0.31	[{'connected_gene': 'CTNS', 'score': 5.25}, {'connected_gene': 'P2RX5', 'score': 0.39}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.39}, {'connected_gene': 'EMC6', 'score': 0.37}]
chr17	GH17I003639	3639602	3642424	1.17	[{'connected_gene': 'CTNS', 'score': 23.37}, {'connected_gene': 'TAX1BP3', 'score': 5.07}, {'connected_gene': 'LOC105371493', 'score': 0.39}]
chr17	GH17I003662	3662237	3662866	0.31	[{'connected_gene': 'CTNS', 'score': 29.98}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17	GH17I003661	3661847	3662131	0.63	[{'connected_gene': 'CTNS', 'score': 12.84}, {'connected_gene': 'SHPK', 'score': 12.84}, {'connected_gene': 'P2RX5', 'score': 11.74}, {'connected_gene': 'LOC105371492', 'score': 0.77}, {'connected_gene': 'GC17P003667', 'score': 0.77}, {'connected_gene': 'GC17P003669', 'score': 0.77}, {'connected_gene': 'GC17P003666', 'score': 0.77}]
chr17	GH17I003634	3634583	3637601	2.06	[{'connected_gene': 'CTNS', 'score': 576.52}, {'connected_gene': 'SHPK', 'score': 556.08}, {'connected_gene': 'ENSG00000262304', 'score': 550.77}, {'connected_gene': 'MYBBP1A', 'score': 18.53}, {'connected_gene': 'TAX1BP3', 'score': 16.44}, {'connected_gene': 'LOC105371492', 'score': 13.12}, {'connected_gene': 'ANKFY1', 'score': 12.6}, {'connected_gene': 'EMC6', 'score': 11.4}, {'connected_gene': 'LOC100422717', 'score': 0.37}]
chr17	GH17I003647	3647867	3648587	0.49	[{'connected_gene': 'CTNS', 'score': 26.71}, {'connected_gene': 'LOC105371493', 'score': 0.77}]
chr17	GH17I004496	4496708	4497184	0.43	[{'connected_gene': 'SPNS2', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 6.19}, {'connected_gene': 'ENSG00000262823', 'score': 0.39}]
chr17	GH17I003657	3657477	3661589	1.07	[{'connected_gene': 'LOC105371492', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 58.08}, {'connected_gene': 'SHPK', 'score': 12.87}, {'connected_gene': 'P2RX5', 'score': 11.72}, {'connected_gene': 'TAX1BP3', 'score': 6.57}, {'connected_gene': 'GC17P003667', 'score': 0.44}, {'connected_gene': 'GC17P003669', 'score': 0.44}, {'connected_gene': 'GC17P003666', 'score': 0.44}]
chr17	GH17I003603	3603210	3604058	0.43	[{'connected_gene': 'ENSG00000261916', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 6.06}, {'connected_gene': 'TRPV1', 'score': 0.44}, {'connected_gene': 'ENSG00000262304', 'score': 0.29}]
chr17	GH17I003730	3730602	3731329	0.49	[{'connected_gene': 'ENSG00000262358', 'score': 550.77}, {'connected_gene': 'CTNS', 'score': 5.39}, {'connected_gene': 'ITGAE', 'score': 0.19}]
chr17	GH17I003664	3664084	3665260	0.38	[{'connected_gene': 'GC17P003667', 'score': 550.77}, {'connected_gene': 'GC17P003669', 'score': 550.77}, {'connected_gene': 'RPL21P125', 'score': 550.77}, {'connected_gene': 'GC17P003666', 'score': 550.77}, {'connected_gene': 'TAX1BP3', 'score': 20.27}, {'connected_gene': 'CTNS', 'score': 17.09}, {'connected_gene': 'P2RX5', 'score': 11.48}, {'connected_gene': 'HASPIN', 'score': 10.62}, {'connected_gene': 'LOC105371492', 'score': 0.44}, {'connected_gene': 'P2RX5-TAX1BP3', 'score': 0.29}]