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
ENST00000439765	[[20135949, 20136323], [20136397, 20136447], [20136709, 20136767], [20136934, 20136999], [20137103, 20137163], [20137246, 20137303], [20137477, 20137582], [20137665, 20137773], [20137990, 20138399]]	[[20136136, 20136323], [20136397, 20136447], [20136709, 20136767], [20136934, 20136999], [20137103, 20137163], [20137246, 20137303], [20137477, 20137582], [20137665, 20137773], [20137990, 20138399]]
ENST00000444532	[[20136108, 20136323], [20136397, 20136447], [20136709, 20136767], [20136934, 20136999], [20137103, 20137163], [20137246, 20137426]]	None
ENST00000540078	[[20137085, 20137163], [20137246, 20137303], [20137477, 20137582], [20137665, 20137773], [20137990, 20138302]]	[[20137085, 20137163], [20137246, 20137303], [20137477, 20137582], [20137665, 20137773], [20137990, 20138302]]
NM_001243537	[[20136108, 20136323], [20136397, 20136447], [20136709, 20136767], [20136934, 20136999], [20137103, 20137163], [20137246, 20137431]]	[[20136136, 20136323], [20136397, 20136447], [20136709, 20136767], [20136934, 20136999], [20137103, 20137163], [20137246, 20137261]]

Promoter

Chrom	Start	End	Description
chr22	20138573	20138582	CAGE_peak_1_at_LOC388849_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I020180	20180846	20185527	0.69	[{'connected_gene': 'RTN4R', 'score': 12.46}, {'connected_gene': 'TRMT2A', 'score': 6.31}, {'connected_gene': 'ZDHHC8', 'score': 5.69}, {'connected_gene': 'ARVCF', 'score': 5.22}, {'connected_gene': 'CCDC188', 'score': 4.49}, {'connected_gene': 'GC22P020198', 'score': 0.37}]
chr22	GH22I020078	20078904	20084138	2.77	[{'connected_gene': 'DGCR8', 'score': 622.53}, {'connected_gene': 'LZTR1', 'score': 72.24}, {'connected_gene': 'TRMT2A', 'score': 68.95}, {'connected_gene': 'MED15', 'score': 66.45}, {'connected_gene': 'RPL7AP70', 'score': 51.6}, {'connected_gene': 'RPL8P5', 'score': 51.37}, {'connected_gene': 'UFD1', 'score': 49.19}, {'connected_gene': 'ENSG00000273300', 'score': 44.84}, {'connected_gene': 'LOC100420177', 'score': 14.32}, {'connected_gene': 'RANBP1', 'score': 12.8}, {'connected_gene': 'ENSG00000243762', 'score': 12.8}, {'connected_gene': 'LINC01311', 'score': 12.04}, {'connected_gene': 'MIR185', 'score': 11.97}, {'connected_gene': 'ZDHHC8', 'score': 11.87}, {'connected_gene': 'TBX1', 'score': 11.76}, {'connected_gene': 'ABHD17AP4', 'score': 11.72}, {'connected_gene': 'SNAP29', 'score': 10.49}, {'connected_gene': 'THAP7', 'score': 10.34}, {'connected_gene': 'THAP7-AS1', 'score': 9.94}, {'connected_gene': 'CCDC188', 'score': 4.99}, {'connected_gene': 'COMT', 'score': 1.51}, {'connected_gene': 'MIR3618', 'score': 0.77}]
chr22	GH22I020494	20494483	20497203	2.6	[{'connected_gene': 'MED15', 'score': 655.32}, {'connected_gene': 'KLHL22', 'score': 581.86}, {'connected_gene': 'LOC101928824', 'score': 550.77}, {'connected_gene': 'LZTR1', 'score': 156.72}, {'connected_gene': 'DGCR8', 'score': 150.29}, {'connected_gene': 'RPL7AP70', 'score': 93.81}, {'connected_gene': 'TRMT2A', 'score': 82.51}, {'connected_gene': 'RPL8P5', 'score': 66.85}, {'connected_gene': 'LOC100420177', 'score': 62.07}, {'connected_gene': 'THAP7', 'score': 41.99}, {'connected_gene': 'THAP7-AS1', 'score': 38.62}, {'connected_gene': 'ENSG00000273343', 'score': 33.45}, {'connected_gene': 'ZDHHC8', 'score': 28.46}, {'connected_gene': 'SCARF2', 'score': 24.15}, {'connected_gene': 'ZNF74', 'score': 23.6}, {'connected_gene': 'TUBA3FP', 'score': 19.15}, {'connected_gene': 'ABHD17AP4', 'score': 11.78}, {'connected_gene': 'TBX1', 'score': 11.75}, {'connected_gene': 'CCDC188', 'score': 11.29}, {'connected_gene': 'AIFM3', 'score': 10.76}, {'connected_gene': 'RANBP1', 'score': 10.51}, {'connected_gene': 'PI4KA', 'score': 4.47}, {'connected_gene': 'KRT18P5', 'score': 0.39}]
chr22	GH22I020153	20153754	20155844	1.23	[{'connected_gene': 'CCDC188', 'score': 14.4}, {'connected_gene': 'ZDHHC8', 'score': 11.28}, {'connected_gene': 'GC22P020198', 'score': 0.26}]
chr22	GH22I020119	20119978	20120227	0.66	[{'connected_gene': 'CCDC188', 'score': 9.7}, {'connected_gene': 'TRMT2A', 'score': 0.77}, {'connected_gene': 'RANBP1', 'score': 0.77}, {'connected_gene': 'GC22P020130', 'score': 0.44}, {'connected_gene': 'GC22P020128', 'score': 0.44}]
chr22	GH22I020158	20158684	20159100	0.43	[{'connected_gene': 'CCDC188', 'score': 6.71}, {'connected_gene': 'GC22P020198', 'score': 0.28}]
chr22	GH22I020159	20159198	20159347	0.46	[{'connected_gene': 'CCDC188', 'score': 0.44}, {'connected_gene': 'GC22P020198', 'score': 0.28}]
chr22	GH22I020105	20105327	20107498	0.57	[{'connected_gene': 'ZDHHC8', 'score': 11.73}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'MIR185', 'score': 11.55}, {'connected_gene': 'CCDC188', 'score': 9.48}, {'connected_gene': 'ENSG00000243762', 'score': 0.44}, {'connected_gene': 'MIR1306', 'score': 0.34}, {'connected_gene': 'DGCR8', 'score': 0.31}]
chr22	GH22I020128	20128432	20129828	1.17	[{'connected_gene': 'ZDHHC8', 'score': 562.0}, {'connected_gene': 'MED15', 'score': 15.78}, {'connected_gene': 'DGCR8', 'score': 15.58}, {'connected_gene': 'LOC100420177', 'score': 14.32}, {'connected_gene': 'TRMT2A', 'score': 14.01}, {'connected_gene': 'LZTR1', 'score': 13.53}, {'connected_gene': 'RPL7AP70', 'score': 13.21}, {'connected_gene': 'LINC01311', 'score': 12.04}, {'connected_gene': 'UFD1', 'score': 11.5}, {'connected_gene': 'RPL8P5', 'score': 10.88}, {'connected_gene': 'CCDC188', 'score': 8.05}, {'connected_gene': 'SNORA77B', 'score': 0.77}]
chr22	GH22I020140	20140798	20142872	0.54	[{'connected_gene': 'ZDHHC8', 'score': 10.77}, {'connected_gene': 'CCDC188', 'score': 0.44}]
chr22	GH22I020137	20137601	20138000	0.65	[{'connected_gene': 'ZDHHC8', 'score': 10.46}, {'connected_gene': 'CCDC188', 'score': 0.39}]
chr22	GH22I020130	20130376	20133226	1.95	[{'connected_gene': 'ZDHHC8', 'score': 560.8}, {'connected_gene': 'TRMT2A', 'score': 8.63}, {'connected_gene': 'CCDC188', 'score': 7.12}, {'connected_gene': 'ARVCF', 'score': 4.5}]
chr22	GH22I020076	20076350	20077467	0.91	[{'connected_gene': 'TRMT2A', 'score': 24.74}, {'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'LZTR1', 'score': 14.54}, {'connected_gene': 'ENSG00000243762', 'score': 12.8}, {'connected_gene': 'RANBP1', 'score': 12.78}, {'connected_gene': 'MIR185', 'score': 11.98}, {'connected_gene': 'RPL7AP70', 'score': 11.72}, {'connected_gene': 'MED15', 'score': 11.29}, {'connected_gene': 'DGCR8', 'score': 11.29}, {'connected_gene': 'RPL8P5', 'score': 11.02}, {'connected_gene': 'ZDHHC8', 'score': 9.92}, {'connected_gene': 'CCDC188', 'score': 4.99}, {'connected_gene': 'ENSG00000277950', 'score': 0.44}]
chr22	GH22I020114	20114959	20119532	2.32	[{'connected_gene': 'TRMT2A', 'score': 581.22}, {'connected_gene': 'RANBP1', 'score': 561.23}, {'connected_gene': 'MED15', 'score': 37.69}, {'connected_gene': 'RPL7AP70', 'score': 28.93}, {'connected_gene': 'LZTR1', 'score': 28.54}, {'connected_gene': 'ZDHHC8', 'score': 21.61}, {'connected_gene': 'UFD1', 'score': 19.85}, {'connected_gene': 'DGCR8', 'score': 13.65}, {'connected_gene': 'SCARF2', 'score': 13.58}, {'connected_gene': 'THAP7', 'score': 11.21}, {'connected_gene': 'LOC100420177', 'score': 11.02}, {'connected_gene': 'THAP7-AS1', 'score': 10.69}, {'connected_gene': 'ENSG00000273300', 'score': 10.61}, {'connected_gene': 'ESS2', 'score': 10.14}, {'connected_gene': 'CCDC188', 'score': 9.7}, {'connected_gene': 'ARVCF', 'score': 4.55}]
chr22	GH22I020186	20186638	20186787	0.64	[{'connected_gene': 'TRMT2A', 'score': 5.85}, {'connected_gene': 'GC22P020198', 'score': 0.39}, {'connected_gene': 'CCDC188', 'score': 0.28}]
chr22	GH22I019958	19958269	19964680	2.21	[{'connected_gene': 'COMT', 'score': 564.89}, {'connected_gene': 'GC22M019961', 'score': 550.77}, {'connected_gene': 'LINC01311', 'score': 43.35}, {'connected_gene': 'LOC100420177', 'score': 34.33}, {'connected_gene': 'UFD1', 'score': 21.43}, {'connected_gene': 'RPL7AP70', 'score': 21.38}, {'connected_gene': 'KLHL22', 'score': 20.91}, {'connected_gene': 'ENSG00000273343', 'score': 19.97}, {'connected_gene': 'ZNF74', 'score': 18.1}, {'connected_gene': 'MED15', 'score': 15.76}, {'connected_gene': 'DGCR8', 'score': 15.46}, {'connected_gene': 'TRMT2A', 'score': 13.72}, {'connected_gene': 'DGCR11', 'score': 11.99}, {'connected_gene': 'CCDC188', 'score': 11.33}, {'connected_gene': 'RPL8P5', 'score': 11.0}, {'connected_gene': 'ARVCF', 'score': 10.66}, {'connected_gene': 'MIR4761', 'score': 0.77}, {'connected_gene': 'GC22M019943', 'score': 0.37}]
chr22	GH22I020020	20020329	20023641	2.22	[{'connected_gene': 'TANGO2', 'score': 550.77}, {'connected_gene': 'MED15', 'score': 25.22}, {'connected_gene': 'TRMT2A', 'score': 24.6}, {'connected_gene': 'RPL7AP70', 'score': 23.13}, {'connected_gene': 'UFD1', 'score': 21.25}, {'connected_gene': 'DGCR8', 'score': 20.45}, {'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'LZTR1', 'score': 14.55}, {'connected_gene': 'RANBP1', 'score': 12.63}, {'connected_gene': 'DGCR11', 'score': 11.99}, {'connected_gene': 'ABHD17AP4', 'score': 11.71}, {'connected_gene': 'ARVCF', 'score': 11.35}, {'connected_gene': 'RPL8P5', 'score': 11.05}, {'connected_gene': 'SNAP29', 'score': 10.49}, {'connected_gene': 'CCDC188', 'score': 5.23}, {'connected_gene': 'GC22P020024', 'score': 0.77}]
chr22	GH22I020113	20113881	20114031	0.49	[{'connected_gene': 'MIR6816', 'score': 550.77}, {'connected_gene': 'GC22M020115', 'score': 550.77}, {'connected_gene': 'RANBP1', 'score': 550.77}, {'connected_gene': 'CCDC188', 'score': 4.77}, {'connected_gene': 'ENSG00000243762', 'score': 0.77}, {'connected_gene': 'TRMT2A', 'score': 0.77}]
chr22	GH22I020084	20084198	20085647	1.17	[{'connected_gene': 'MIR3618', 'score': 550.77}, {'connected_gene': 'MIR1306', 'score': 550.77}, {'connected_gene': 'DGCR8', 'score': 54.24}, {'connected_gene': 'TRMT2A', 'score': 46.35}, {'connected_gene': 'LZTR1', 'score': 44.78}, {'connected_gene': 'MED15', 'score': 35.28}, {'connected_gene': 'LINC01311', 'score': 34.53}, {'connected_gene': 'LOC100420177', 'score': 32.73}, {'connected_gene': 'RPL7AP70', 'score': 31.22}, {'connected_gene': 'UFD1', 'score': 21.42}, {'connected_gene': 'RPL8P5', 'score': 20.12}, {'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'KLHL22', 'score': 12.76}, {'connected_gene': 'THAP7', 'score': 11.21}, {'connected_gene': 'RANBP1', 'score': 10.75}, {'connected_gene': 'ENSG00000273343', 'score': 10.54}, {'connected_gene': 'ESS2', 'score': 10.14}, {'connected_gene': 'ZNF74', 'score': 10.12}, {'connected_gene': 'ZDHHC8', 'score': 7.22}, {'connected_gene': 'CCDC188', 'score': 5.31}]
chr22	GH22I020028	20028256	20030267	0.65	[{'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'LZTR1', 'score': 14.54}, {'connected_gene': 'RANBP1', 'score': 12.64}, {'connected_gene': 'TRMT2A', 'score': 12.14}, {'connected_gene': 'RPL7AP70', 'score': 11.73}, {'connected_gene': 'MED15', 'score': 11.29}, {'connected_gene': 'RPL8P5', 'score': 11.04}, {'connected_gene': 'DGCR8', 'score': 10.75}, {'connected_gene': 'ARVCF', 'score': 8.67}, {'connected_gene': 'CCDC188', 'score': 4.82}, {'connected_gene': 'GC22P020036', 'score': 0.77}, {'connected_gene': 'GC22P020027', 'score': 0.77}, {'connected_gene': 'GC22P020033', 'score': 0.77}, {'connected_gene': 'TANGO2', 'score': 0.39}]
chr22	GH22I020157	20157098	20157287	0.91	[{'connected_gene': 'ENSG00000273300', 'score': 14.72}, {'connected_gene': 'LZTR1', 'score': 14.55}, {'connected_gene': 'TRMT2A', 'score': 12.25}, {'connected_gene': 'RPL7AP70', 'score': 11.71}, {'connected_gene': 'MED15', 'score': 11.3}, {'connected_gene': 'RPL8P5', 'score': 11.0}, {'connected_gene': 'DGCR8', 'score': 10.7}, {'connected_gene': 'ZDHHC8', 'score': 9.05}, {'connected_gene': 'CCDC188', 'score': 0.44}, {'connected_gene': 'GC22P020198', 'score': 0.26}]
chr22	GH22I020023	20023863	20025150	0.75	[{'connected_gene': 'GC22P020024', 'score': 550.77}, {'connected_gene': 'GC22P020027', 'score': 550.77}, {'connected_gene': 'RPL7AP70', 'score': 23.94}, {'connected_gene': 'DGCR11', 'score': 20.0}, {'connected_gene': 'UFD1', 'score': 19.68}, {'connected_gene': 'MED15', 'score': 15.77}, {'connected_gene': 'RANBP1', 'score': 12.63}, {'connected_gene': 'ARVCF', 'score': 9.23}, {'connected_gene': 'CCDC188', 'score': 4.98}, {'connected_gene': 'TANGO2', 'score': 0.44}]
chr22	GH22I020110	20110924	20113109	0.89	[{'connected_gene': 'ENSG00000243762', 'score': 550.77}, {'connected_gene': 'TRMT2A', 'score': 18.12}, {'connected_gene': 'MIR185', 'score': 11.54}, {'connected_gene': 'ZDHHC8', 'score': 10.39}, {'connected_gene': 'CCDC188', 'score': 9.69}, {'connected_gene': 'GC22M020115', 'score': 0.77}, {'connected_gene': 'DGCR8', 'score': 0.29}]