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
ENST00000173229	[[8924858, 8924902], [8925627, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9147317]]	[[8925690, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9143285]]
ENST00000538852	[[8925553, 8925593], [8925624, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9147317]]	[[8925690, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9143285]]
ENST00000546090	[[8925619, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9147317]]	[[8925690, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9143285]]
ENST00000436734	[[9066251, 9066318], [9083123, 9083273], [9086232, 9086286], [9086564, 9086993]]	[[9066251, 9066318], [9083123, 9083273], [9086232, 9086286], [9086564, 9086755]]
NM_004822	[[8924858, 8924902], [8925627, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9147317]]	[[8925690, 8926708], [9066129, 9066318], [9083123, 9083273], [9086232, 9086286], [9124484, 9124559], [9142956, 9143285]]

Promoter

Chrom	Start	End	Description
chr17	8924604	8924645	CAGE_peak_5_at_NTN1_5end
chr17	8924820	8924832	CAGE_peak_1_at_NTN1_5end
chr17	8924837	8924872	CAGE_peak_3_at_NTN1_5end
chr17	8924897	8924916	CAGE_peak_2_at_NTN1_5end
chr17	9066128	9066151	CAGE_peak_6_at_NTN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I009346	9346404	9346553	0.46	[{'connected_gene': 'NTN1', 'score': 9.8}, {'connected_gene': 'GC17P009324', 'score': 0.34}, {'connected_gene': 'GC17M009366', 'score': 0.34}, {'connected_gene': 'STX8', 'score': 0.07}]
chr17	GH17I009537	9537023	9537603	0.46	[{'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17P009539', 'score': 0.77}, {'connected_gene': 'GC17P009535', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.28}]
chr17	GH17I009370	9370126	9372451	0.9	[{'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17M009366', 'score': 0.77}, {'connected_gene': 'GC17P009447', 'score': 0.18}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I008907	8907795	8909372	0.31	[{'connected_gene': 'NTN1', 'score': 10.38}, {'connected_gene': 'PIK3R5', 'score': 6.8}, {'connected_gene': 'GC17M008877', 'score': 0.37}]
chr17	GH17I009205	9205966	9207653	0.79	[{'connected_gene': 'NTN1', 'score': 11.29}, {'connected_gene': 'GC17M009219', 'score': 0.37}, {'connected_gene': 'LOC101928266', 'score': 0.31}]
chr17	GH17I009204	9204544	9205483	0.49	[{'connected_gene': 'NTN1', 'score': 10.93}, {'connected_gene': 'GC17M009219', 'score': 0.34}, {'connected_gene': 'LOC101928266', 'score': 0.31}]
chr17	GH17I009163	9163093	9164048	0.58	[{'connected_gene': 'NTN1', 'score': 10.84}, {'connected_gene': 'PIR43665', 'score': 0.44}, {'connected_gene': 'GC17P009124', 'score': 0.28}]
chr17	GH17I009020	9020584	9022373	1.8	[{'connected_gene': 'NTN1', 'score': 550.77}, {'connected_gene': 'PIR61522', 'score': 550.77}, {'connected_gene': 'GC17M009008', 'score': 0.39}]
chr17	GH17I009148	9148903	9151787	1.11	[{'connected_gene': 'NTN1', 'score': 11.15}, {'connected_gene': 'PIR43665', 'score': 0.34}, {'connected_gene': 'GC17P009124', 'score': 0.31}]
chr17	GH17I009110	9110044	9110193	0.31	[{'connected_gene': 'NTN1', 'score': 11.06}, {'connected_gene': 'GC17P009124', 'score': 0.39}, {'connected_gene': 'GC17P009093', 'score': 0.37}]
chr17	GH17I009072	9072384	9074172	0.66	[{'connected_gene': 'NTN1', 'score': 11.07}, {'connected_gene': 'GC17P009093', 'score': 0.34}, {'connected_gene': 'GC17P009034', 'score': 0.28}]
chr17	GH17I009115	9115082	9116469	0.95	[{'connected_gene': 'NTN1', 'score': 5.42}, {'connected_gene': 'GC17P009124', 'score': 0.44}, {'connected_gene': 'GC17P009093', 'score': 0.34}]
chr17	GH17I009157	9157932	9158959	0.38	[{'connected_gene': 'AURKB', 'score': 5.22}, {'connected_gene': 'PIR43665', 'score': 0.39}, {'connected_gene': 'GC17P009124', 'score': 0.29}, {'connected_gene': 'NTN1', 'score': 0.12}]
chr17	GH17I009227	9227948	9229398	1.19	[{'connected_gene': 'NDEL1', 'score': 4.87}, {'connected_gene': 'NTN1', 'score': 1.94}, {'connected_gene': 'CFAP52', 'score': 1.25}, {'connected_gene': 'GC17M009219', 'score': 0.77}, {'connected_gene': 'LOC105371533', 'score': 0.44}]
chr17	GH17I009052	9052590	9055144	0.71	[{'connected_gene': 'CTC1', 'score': 19.6}, {'connected_gene': 'PFAS', 'score': 12.02}, {'connected_gene': 'NTN1', 'score': 11.62}, {'connected_gene': 'PER1', 'score': 11.2}, {'connected_gene': 'ENSG00000265749', 'score': 10.29}, {'connected_gene': 'GC17P009034', 'score': 0.37}, {'connected_gene': 'GC17P009093', 'score': 0.28}]
chr17	GH17I009028	9028266	9028770	0.77	[{'connected_gene': 'RNF222', 'score': 8.68}, {'connected_gene': 'NTN1', 'score': 0.44}, {'connected_gene': 'PIR61522', 'score': 0.44}, {'connected_gene': 'GC17P009034', 'score': 0.44}]
chr17	GH17I009016	9016593	9018366	0.87	[{'connected_gene': 'PFAS', 'score': 13.93}, {'connected_gene': 'NTN1', 'score': 6.15}, {'connected_gene': 'GC17M009008', 'score': 0.44}]
chr17	GH17I008929	8929331	8932383	0.31	[{'connected_gene': 'PFAS', 'score': 14.78}, {'connected_gene': 'PIK3R5', 'score': 12.73}, {'connected_gene': 'CNTROB', 'score': 11.03}, {'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'SPDYE4', 'score': 9.83}, {'connected_gene': 'ENSG00000265749', 'score': 9.7}, {'connected_gene': 'ENSG00000265975', 'score': 5.01}, {'connected_gene': 'GC17M008877', 'score': 0.26}]
chr17	GH17I009199	9199023	9201775	0.92	[{'connected_gene': 'PFAS', 'score': 13.93}, {'connected_gene': 'GC17M009219', 'score': 0.34}, {'connected_gene': 'LOC101928266', 'score': 0.34}, {'connected_gene': 'NTN1', 'score': 0.1}]
chr17	GH17I008912	8912244	8912333	0.63	[{'connected_gene': 'PIK3R5', 'score': 12.85}, {'connected_gene': 'NTN1', 'score': 10.39}, {'connected_gene': 'GC17M008877', 'score': 0.34}]
chr17	GH17I008933	8933938	8936204	1.42	[{'connected_gene': 'PIK3R5', 'score': 27.31}, {'connected_gene': 'SPDYE4', 'score': 13.94}, {'connected_gene': 'NTN1', 'score': 9.91}, {'connected_gene': 'NDEL1', 'score': 4.1}, {'connected_gene': 'GC17M008877', 'score': 0.26}]
chr17	GH17I009232	9232344	9233247	0.72	[{'connected_gene': 'LOC105371533', 'score': 0.77}, {'connected_gene': 'GC17M009219', 'score': 0.44}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009236	9236674	9238566	0.89	[{'connected_gene': 'LOC105371533', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 11.87}, {'connected_gene': 'CTC1', 'score': 11.26}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'LOC105371532', 'score': 0.77}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009198	9198824	9198886	0.2	[{'connected_gene': 'LOC101928266', 'score': 0.37}, {'connected_gene': 'GC17M009219', 'score': 0.31}, {'connected_gene': 'NTN1', 'score': 0.1}]
chr17	GH17I009195	9195776	9198114	0.89	[{'connected_gene': 'LOC101928266', 'score': 0.37}, {'connected_gene': 'GC17M009219', 'score': 0.31}, {'connected_gene': 'NTN1', 'score': 0.1}]
chr17	GH17I009196	9195104	9195253	0.2	[{'connected_gene': 'LOC101928266', 'score': 0.37}, {'connected_gene': 'GC17M009219', 'score': 0.29}, {'connected_gene': 'NTN1', 'score': 0.09}]
chr17	GH17I009183	9183633	9187531	0.52	[{'connected_gene': 'LOC101928266', 'score': 5.99}, {'connected_gene': 'GC17M009219', 'score': 0.28}, {'connected_gene': 'NTN1', 'score': 0.1}]
chr17	GH17I009289	9289808	9292896	1	[{'connected_gene': 'GC17M009268', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 10.67}, {'connected_gene': 'STX8', 'score': 4.89}, {'connected_gene': 'ENSG00000263708', 'score': 0.44}, {'connected_gene': 'GC17P009311', 'score': 0.34}]
chr17	GH17I009367	9367200	9367401	0.31	[{'connected_gene': 'GC17M009366', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17P009324', 'score': 0.26}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I009252	9252607	9253888	0.77	[{'connected_gene': 'GC17M009252', 'score': 550.77}, {'connected_gene': 'GC17P009254', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 10.22}, {'connected_gene': 'PIK3R5', 'score': 1.58}, {'connected_gene': 'LOC105371531', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.05}]
chr17	GH17I009168	9168706	9169681	0.2	[{'connected_gene': 'PIR43665', 'score': 0.77}, {'connected_gene': 'GC17P009124', 'score': 0.25}, {'connected_gene': 'NTN1', 'score': 0.11}]
chr17	GH17I009074	9074284	9074433	0.31	[{'connected_gene': 'GC17P009093', 'score': 0.37}, {'connected_gene': 'GC17P009034', 'score': 0.28}, {'connected_gene': 'NTN1', 'score': 0.23}]
chr17	GH17I009050	9050364	9051693	0.6	[{'connected_gene': 'GC17P009034', 'score': 0.37}, {'connected_gene': 'NTN1', 'score': 0.31}, {'connected_gene': 'GC17P009093', 'score': 0.26}]
chr17	GH17I009036	9036444	9036593	0.49	[{'connected_gene': 'GC17P009034', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 0.39}, {'connected_gene': 'GC17P009093', 'score': 0.22}]
chr17	GH17I009164	9164367	9165593	0.31	[{'connected_gene': 'PIR43665', 'score': 0.44}, {'connected_gene': 'GC17P009124', 'score': 0.26}, {'connected_gene': 'NTN1', 'score': 0.11}]
chr17	GH17I009162	9162724	9162893	0.69	[{'connected_gene': 'PIR43665', 'score': 0.44}, {'connected_gene': 'GC17P009124', 'score': 0.28}, {'connected_gene': 'NTN1', 'score': 0.11}]
chr17	GH17I009173	9173099	9175719	0.54	[{'connected_gene': 'PIR43665', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 11.88}, {'connected_gene': 'CTC1', 'score': 11.27}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'LOC101928266', 'score': 0.77}, {'connected_gene': 'NTN1', 'score': 0.1}]
chr17	GH17I009238	9238578	9245872	1.3	[{'connected_gene': 'PIR56385', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 19.4}, {'connected_gene': 'ENSG00000265749', 'score': 12.13}, {'connected_gene': 'RPL26', 'score': 11.19}, {'connected_gene': 'PIR31843', 'score': 0.77}, {'connected_gene': 'LOC105371532', 'score': 0.77}, {'connected_gene': 'LOC105371533', 'score': 0.44}, {'connected_gene': 'LOC105371531', 'score': 0.44}, {'connected_gene': 'NTN1', 'score': 0.07}]
chr17	GH17I009225	9225744	9225893	0.58	[{'connected_gene': 'GC17M009219', 'score': 550.77}, {'connected_gene': 'LOC105371533', 'score': 0.39}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009229	9229963	9230573	0.62	[{'connected_gene': 'GC17M009219', 'score': 0.77}, {'connected_gene': 'LOC105371533', 'score': 0.44}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009226	9226715	9227495	0.77	[{'connected_gene': 'GC17M009219', 'score': 550.77}, {'connected_gene': 'LOC105371533', 'score': 0.44}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009220	9220724	9220873	0.38	[{'connected_gene': 'GC17M009219', 'score': 0.77}, {'connected_gene': 'LOC101928266', 'score': 0.26}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009219	9219944	9220093	0.38	[{'connected_gene': 'GC17M009219', 'score': 0.44}, {'connected_gene': 'LOC101928266', 'score': 0.26}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009216	9216516	9218558	0.99	[{'connected_gene': 'GC17M009219', 'score': 0.44}, {'connected_gene': 'LOC101928266', 'score': 0.28}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009221	9221044	9221193	0.38	[{'connected_gene': 'GC17M009219', 'score': 0.77}, {'connected_gene': 'LOC101928266', 'score': 0.26}, {'connected_gene': 'NTN1', 'score': 0.08}]
chr17	GH17I009170	9170444	9171881	0.67	[{'connected_gene': 'PIR43665', 'score': 550.77}, {'connected_gene': 'LOC101928266', 'score': 0.44}, {'connected_gene': 'GC17P009124', 'score': 0.25}, {'connected_gene': 'NTN1', 'score': 0.11}]