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
ENST00000359595	[[89420518, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89438689, 89438857]]	[[89421200, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430529]]
ENST00000558770	[[89420525, 89421487], [89422197, 89422500], [89422648, 89423841], [89424587, 89424956], [89430405, 89430576], [89438689, 89438762]]	[[89423773, 89423841], [89424587, 89424956], [89430405, 89430529]]
ENST00000562889	[[89421061, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89436204, 89436343], [89438689, 89438828]]	[[89421200, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89436204, 89436343]]
ENST00000562281	[[89422349, 89422500], [89422648, 89422683], [89424587, 89424956], [89430405, 89430576], [89438689, 89438764]]	[[89422349, 89422500], [89422648, 89422683], [89424587, 89424956], [89430405, 89430529]]
ENST00000563808	[[89424375, 89424956], [89430405, 89430576], [89438689, 89438744]]	None
NM_001307952	[[89420515, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89436204, 89436343], [89438689, 89438857]]	[[89421200, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89436204, 89436343]]
NM_178232	[[89420515, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430576], [89438689, 89438857]]	[[89421200, 89421487], [89422197, 89422500], [89424587, 89424956], [89430405, 89430529]]

Promoter

Chrom	Start	End	Description
chr15	89438742	89438791	CAGE_peak_1_at_HAPLN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I088903	88903783	88906422	1.3	[{'connected_gene': 'AEN', 'score': 10.05}, {'connected_gene': 'HAPLN3', 'score': 9.95}, {'connected_gene': 'MFGE8', 'score': 9.07}, {'connected_gene': 'GC15P088897', 'score': 0.44}, {'connected_gene': 'GC15P088896', 'score': 0.44}]
chr15	GH15I088878	88878830	88878999	0.63	[{'connected_gene': 'MFGE8', 'score': 11.13}, {'connected_gene': 'AEN', 'score': 9.72}, {'connected_gene': 'ENSG00000173867', 'score': 9.12}, {'connected_gene': 'MRPL46', 'score': 9.11}, {'connected_gene': 'MRPS11', 'score': 9.11}, {'connected_gene': 'GC15M088846', 'score': 0.44}, {'connected_gene': 'GC15P088887', 'score': 0.44}, {'connected_gene': 'HAPLN3', 'score': 0.37}]
chr15	GH15I088908	88908647	88914200	2.18	[{'connected_gene': 'MFGE8', 'score': 566.15}, {'connected_gene': 'POLG', 'score': 10.37}, {'connected_gene': 'HAPLN3', 'score': 5.27}, {'connected_gene': 'GC15P088897', 'score': 0.39}, {'connected_gene': 'GC15P088896', 'score': 0.39}]
chr15	GH15I089001	89001572	89004879	1.35	[{'connected_gene': 'MFGE8', 'score': 17.18}, {'connected_gene': 'HAPLN3', 'score': 11.39}, {'connected_gene': 'RLBP1', 'score': 9.64}, {'connected_gene': 'AEN', 'score': 9.63}, {'connected_gene': 'LOC100129942', 'score': 0.39}, {'connected_gene': 'GC15P089023', 'score': 0.37}]
chr15	GH15I088884	88884230	88885296	0.77	[{'connected_gene': 'MFGE8', 'score': 6.77}, {'connected_gene': 'HAPLN3', 'score': 5.73}, {'connected_gene': 'GC15P088887', 'score': 0.77}, {'connected_gene': 'GC15M088846', 'score': 0.39}]
chr15	GH15I088902	88902874	88903267	0.4	[{'connected_gene': 'MFGE8', 'score': 7.19}, {'connected_gene': 'HAPLN3', 'score': 5.31}, {'connected_gene': 'GC15P088897', 'score': 0.44}, {'connected_gene': 'GC15P088896', 'score': 0.44}]
chr15	GH15I088659	88659186	88660345	0.78	[{'connected_gene': 'ISG20', 'score': 16.03}, {'connected_gene': 'AEN', 'score': 11.96}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'ACAN', 'score': 5.06}, {'connected_gene': 'PIR50540', 'score': 0.28}]
chr15	GH15I088655	88655070	88658039	1.19	[{'connected_gene': 'ISG20', 'score': 27.59}, {'connected_gene': 'AEN', 'score': 12.63}, {'connected_gene': 'MIR7-2', 'score': 11.32}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'PIR50540', 'score': 0.26}]
chr15	GH15I089016	89016337	89018938	1.39	[{'connected_gene': 'HAPLN3', 'score': 11.87}, {'connected_gene': 'RLBP1', 'score': 10.69}, {'connected_gene': 'AEN', 'score': 10.2}, {'connected_gene': 'ENSG00000173867', 'score': 5.02}, {'connected_gene': 'MFGE8', 'score': 4.49}, {'connected_gene': 'GC15P089023', 'score': 0.44}, {'connected_gene': 'LOC100129942', 'score': 0.31}]
chr15	GH15I088931	88931211	88931803	0.38	[{'connected_gene': 'HAPLN3', 'score': 11.28}, {'connected_gene': 'RLBP1', 'score': 9.77}, {'connected_gene': 'MFGE8', 'score': 7.17}, {'connected_gene': 'ENSG00000259350', 'score': 0.34}, {'connected_gene': 'GC15P088897', 'score': 0.28}]
chr15	GH15I088896	88896264	88898362	1.22	[{'connected_gene': 'HAPLN3', 'score': 559.79}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088896', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 16.68}, {'connected_gene': 'LOC100631255', 'score': 12.19}, {'connected_gene': 'MFGE8', 'score': 0.37}]
chr15	GH15I088981	88981402	88984484	1.21	[{'connected_gene': 'HAPLN3', 'score': 10.63}, {'connected_gene': 'MFGE8', 'score': 7.53}, {'connected_gene': 'LOC100129942', 'score': 0.44}, {'connected_gene': 'KRT18P47', 'score': 0.34}]
chr15	GH15I088898	88898438	88900146	0.52	[{'connected_gene': 'HAPLN3', 'score': 10.63}, {'connected_gene': 'MFGE8', 'score': 8.81}, {'connected_gene': 'GC15P088897', 'score': 0.77}, {'connected_gene': 'GC15P088896', 'score': 0.77}]
chr15	GH15I088894	88894800	88896179	2	[{'connected_gene': 'HAPLN3', 'score': 560.31}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088896', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 5.75}, {'connected_gene': 'GC15P088887', 'score': 0.44}]
chr15	GH15I088895	88894710	88894799	0.91	[{'connected_gene': 'HAPLN3', 'score': 550.77}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088896', 'score': 550.77}, {'connected_gene': 'GC15P088887', 'score': 0.44}]
chr15	GH15I088897	88894370	88894539	0.99	[{'connected_gene': 'HAPLN3', 'score': 550.77}, {'connected_gene': 'GC15P088897', 'score': 550.77}, {'connected_gene': 'GC15P088887', 'score': 0.44}]
chr15	GH15I089086	89086690	89095682	2.57	[{'connected_gene': 'ABHD2', 'score': 561.49}, {'connected_gene': 'LOC102724566', 'score': 13.74}, {'connected_gene': 'POLG', 'score': 13.05}, {'connected_gene': 'RNU7-195P', 'score': 12.81}, {'connected_gene': 'ENSG00000261407', 'score': 11.51}, {'connected_gene': 'LOC100631255', 'score': 10.74}, {'connected_gene': 'FANCI', 'score': 10.46}, {'connected_gene': 'TICRR', 'score': 9.8}, {'connected_gene': 'HAPLN3', 'score': 1.84}, {'connected_gene': 'ISG20', 'score': 1.66}, {'connected_gene': 'GC15M089095', 'score': 0.39}]
chr15	GH15I089051	89051374	89053607	0.97	[{'connected_gene': 'RNU7-195P', 'score': 11.24}, {'connected_gene': 'HAPLN3', 'score': 11.02}, {'connected_gene': 'RLBP1', 'score': 10.85}, {'connected_gene': 'FANCI', 'score': 10.83}, {'connected_gene': 'LOC102724566', 'score': 7.0}, {'connected_gene': 'ENSG00000261407', 'score': 5.66}, {'connected_gene': 'GC15M089074', 'score': 0.34}]
chr15	GH15I088810	88810050	88811777	0.43	[{'connected_gene': 'LOC105370960', 'score': 11.44}, {'connected_gene': 'HAPLN3', 'score': 10.31}, {'connected_gene': 'AEN', 'score': 9.83}, {'connected_gene': 'ENSG00000173867', 'score': 9.08}, {'connected_gene': 'MRPL46', 'score': 9.07}, {'connected_gene': 'MRPS11', 'score': 9.07}, {'connected_gene': 'GC15M088815', 'score': 0.44}, {'connected_gene': 'ACAN', 'score': 0.44}]
chr15	GH15I089040	89040842	89041457	0.73	[{'connected_gene': 'LOC102724566', 'score': 550.77}, {'connected_gene': 'ABHD2', 'score': 11.78}, {'connected_gene': 'HAPLN3', 'score': 11.39}, {'connected_gene': 'RLBP1', 'score': 11.04}, {'connected_gene': 'FANCI', 'score': 10.14}, {'connected_gene': 'GC15M089074', 'score': 0.29}]
chr15	GH15I088984	88984998	88995812	1.37	[{'connected_gene': 'LOC100129942', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 20.9}, {'connected_gene': 'HAPLN3', 'score': 11.48}, {'connected_gene': 'RLBP1', 'score': 10.41}, {'connected_gene': 'GC15P089023', 'score': 0.29}]
chr15	GH15I089201	89201091	89201656	0.43	[{'connected_gene': 'PIR49276', 'score': 550.77}, {'connected_gene': 'PIR42232', 'score': 550.77}, {'connected_gene': 'GC15P089213', 'score': 550.77}, {'connected_gene': 'ENSG00000259948', 'score': 550.77}, {'connected_gene': 'RLBP1', 'score': 12.54}, {'connected_gene': 'POLG', 'score': 10.11}, {'connected_gene': 'HAPLN3', 'score': 9.98}, {'connected_gene': 'ABHD2', 'score': 0.14}]
chr15	GH15I089198	89198478	89200145	0.71	[{'connected_gene': 'PIR49276', 'score': 550.77}, {'connected_gene': 'PIR60733', 'score': 550.77}, {'connected_gene': 'PIR35689', 'score': 550.77}, {'connected_gene': 'GC15P089200', 'score': 550.77}, {'connected_gene': 'GC15P089214', 'score': 550.77}, {'connected_gene': 'GC15P089213', 'score': 550.77}, {'connected_gene': 'PIR42232', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 17.11}, {'connected_gene': 'RLBP1', 'score': 12.54}, {'connected_gene': 'FANCI', 'score': 11.35}, {'connected_gene': 'HAPLN3', 'score': 9.98}, {'connected_gene': 'ABHD2', 'score': 0.14}]
chr15	GH15I089200	89200317	89200884	0.2	[{'connected_gene': 'PIR49276', 'score': 550.77}, {'connected_gene': 'PIR60733', 'score': 550.77}, {'connected_gene': 'PIR35689', 'score': 550.77}, {'connected_gene': 'GC15P089200', 'score': 550.77}, {'connected_gene': 'GC15P089214', 'score': 550.77}, {'connected_gene': 'ENSG00000259948', 'score': 550.77}, {'connected_gene': 'GC15P089213', 'score': 550.77}, {'connected_gene': 'PIR42232', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 17.07}, {'connected_gene': 'RLBP1', 'score': 12.54}, {'connected_gene': 'HAPLN3', 'score': 9.98}, {'connected_gene': 'ABHD2', 'score': 0.14}]
chr15	GH15I088886	88886822	88887697	0.31	[{'connected_gene': 'GC15P088887', 'score': 550.77}, {'connected_gene': 'MFGE8', 'score': 6.65}, {'connected_gene': 'HAPLN3', 'score': 0.44}, {'connected_gene': 'GC15M088846', 'score': 0.37}]