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
ENST00000541773	[[52471520, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535538], [52535697, 52535712]]	[[52472203, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535538], [52535697, 52535712]]
ENST00000216286	[[52471520, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52493918, 52494062], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535712]]	[[52472203, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52493918, 52494062], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535712]]
ENST00000556686	[[52471933, 52472214], [52472454, 52473378], [52474527, 52474642]]	None
ENST00000555310	[[52472021, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474824]]	None
ENST00000556572	[[52472172, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52495439, 52495568], [52496264, 52496408], [52505464, 52505670]]	[[52472203, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52495439, 52495568], [52496264, 52496408], [52505464, 52505670]]
ENST00000553297	[[52474527, 52474685], [52477593, 52477765], [52478271, 52478739]]	None
ENST00000557051	[[52481049, 52481174], [52481771, 52481980], [52485962, 52486012], [52486776, 52486980]]	None
ENST00000554284	[[52495340, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52508829]]	None
NM_007361	[[52471519, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52493918, 52494062], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535946]]	[[52472203, 52472214], [52472454, 52472567], [52473254, 52473378], [52474527, 52474685], [52477593, 52477765], [52478271, 52478401], [52481004, 52481174], [52481771, 52481993], [52485778, 52486012], [52486776, 52486896], [52493918, 52494062], [52495439, 52495568], [52496264, 52496408], [52505464, 52505695], [52507368, 52507569], [52508822, 52509068], [52509499, 52509649], [52520296, 52520656], [52520737, 52521039], [52526841, 52527074], [52534575, 52534881], [52535484, 52535712]]

Promoter

Chrom	Start	End	Description
chr14	52508902	52508921	CAGE_peak_5_at_NID2_5end
chr14	52535726	52535753	CAGE_peak_2_at_NID2_5end
chr14	52535757	52535831	CAGE_peak_1_at_NID2_5end
chr14	52535971	52535992	CAGE_peak_3_at_NID2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I052042	52042757	52044125	0.89	[{'connected_gene': 'PTGER2', 'score': 9.94}, {'connected_gene': 'NID2', 'score': 7.22}, {'connected_gene': 'GNPNAT1', 'score': 4.91}, {'connected_gene': 'GC14M051998', 'score': 0.26}]
chr14	GH14I052071	52071814	52074282	0.72	[{'connected_gene': 'PTGDR', 'score': 11.09}, {'connected_gene': 'NID2', 'score': 4.87}, {'connected_gene': 'LOC105378180', 'score': 0.77}, {'connected_gene': 'GC14P052112', 'score': 0.28}]
chr14	GH14I052002	52002354	52004580	0.66	[{'connected_gene': 'PTGDR', 'score': 10.8}, {'connected_gene': 'RNU6-301P', 'score': 9.33}, {'connected_gene': 'NID2', 'score': 6.61}, {'connected_gene': 'GC14M051998', 'score': 0.77}, {'connected_gene': 'RTRAF', 'score': 0.39}]
chr14	GH14I052015	52015601	52015800	0.63	[{'connected_gene': 'RTRAF', 'score': 11.97}, {'connected_gene': 'PTGDR', 'score': 10.87}, {'connected_gene': 'GNG2', 'score': 9.92}, {'connected_gene': 'GC14M051998', 'score': 0.37}, {'connected_gene': 'NID2', 'score': 0.23}]
chr14	GH14I052058	52058216	52062331	0.31	[{'connected_gene': 'RTRAF', 'score': 10.26}, {'connected_gene': 'NID2', 'score': 5.04}, {'connected_gene': 'GNPNAT1', 'score': 4.44}, {'connected_gene': 'GC14M051998', 'score': 0.21}]
chr14	GH14I052010	52010037	52012008	0.38	[{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'NID2', 'score': 7.67}, {'connected_gene': 'PTGDR', 'score': 5.11}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14	GH14I052018	52018067	52027468	1.17	[{'connected_gene': 'RTRAF', 'score': 11.95}, {'connected_gene': 'NID2', 'score': 10.05}, {'connected_gene': 'GNG2', 'score': 9.91}, {'connected_gene': 'GC14M051998', 'score': 0.34}]
chr14	GH14I052012	52012101	52012722	0.52	[{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'NID2', 'score': 5.14}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14	GH14I052044	52044547	52046145	0.89	[{'connected_gene': 'RTRAF', 'score': 10.29}, {'connected_gene': 'NID2', 'score': 8.31}, {'connected_gene': 'GC14M051998', 'score': 0.25}]
chr14	GH14I052013	52012763	52012952	0.8	[{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'GC14M051998', 'score': 0.39}, {'connected_gene': 'NID2', 'score': 0.22}]
chr14	GH14I052067	52067487	52071085	2.02	[{'connected_gene': 'NID2', 'score': 554.85}, {'connected_gene': 'LOC105378180', 'score': 550.77}, {'connected_gene': 'FRMD6', 'score': 10.88}, {'connected_gene': 'GNPNAT1', 'score': 4.11}]
chr14	GH14I052075	52075779	52083113	1.41	[{'connected_gene': 'NID2', 'score': 12.25}, {'connected_gene': 'LOC105378180', 'score': 0.39}, {'connected_gene': 'GC14P052112', 'score': 0.29}]
chr14	GH14I052086	52086823	52086972	0.38	[{'connected_gene': 'NID2', 'score': 7.03}, {'connected_gene': 'LOC105378180', 'score': 0.37}, {'connected_gene': 'GC14P052112', 'score': 0.31}]
chr14	GH14I052094	52094120	52095671	0.2	[{'connected_gene': 'NID2', 'score': 7.18}, {'connected_gene': 'GC14P052112', 'score': 0.37}, {'connected_gene': 'LOC105378180', 'score': 0.31}]
chr14	GH14I052063	52063123	52063272	0.4	[{'connected_gene': 'NID2', 'score': 4.66}, {'connected_gene': 'GC14M051998', 'score': 0.21}]
chr14	GH14I052050	52050770	52054698	0.78	[{'connected_gene': 'NID2', 'score': 8.66}, {'connected_gene': 'GC14M051998', 'score': 0.23}]
chr14	GH14I052031	52031272	52034191	0.99	[{'connected_gene': 'NID2', 'score': 9.73}, {'connected_gene': 'GC14M051998', 'score': 0.29}]
chr14	GH14I053009	53009973	53012307	0.95	[{'connected_gene': 'GC14M053012', 'score': 550.77}, {'connected_gene': 'NDUFB3P3', 'score': 550.77}, {'connected_gene': 'GC14P053012', 'score': 550.77}, {'connected_gene': 'LOC101927620', 'score': 14.15}, {'connected_gene': 'NID2', 'score': 4.58}, {'connected_gene': 'PIR46154', 'score': 0.23}]
chr14	GH14I052000	52000943	52001012	0.2	[{'connected_gene': 'GC14M051998', 'score': 550.77}, {'connected_gene': 'PTGDR', 'score': 10.79}, {'connected_gene': 'RNU6-301P', 'score': 9.33}, {'connected_gene': 'RTRAF', 'score': 0.39}, {'connected_gene': 'NID2', 'score': 0.2}]