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
ENST00000222256	[[18307593, 18308470], [18309534, 18309659], [18311136, 18311255], [18313322, 18313550], [18314705, 18314884]]	[[18308279, 18308470], [18309534, 18309659], [18311136, 18311255], [18313322, 18313550]]
ENST00000464076	[[18307608, 18308470], [18309534, 18309659], [18311136, 18311255], [18314705, 18314852]]	[[18308279, 18308470], [18309534, 18309659], [18311136, 18311198]]
ENST00000481914	[[18311136, 18311255], [18313322, 18313665], [18314705, 18314822]]	[[18311136, 18311255], [18313322, 18313550]]
ENST00000515410	[[18313147, 18313550], [18314705, 18314845]]	None
NM_002866	[[18307610, 18308470], [18309534, 18309659], [18311136, 18311255], [18313322, 18313550], [18314705, 18314874]]	[[18308279, 18308470], [18309534, 18309659], [18311136, 18311255], [18313322, 18313550]]

Promoter

Chrom	Start	End	Description
chr19	18313362	18313386	CAGE_peak_7_at_RAB3A_5end
chr19	18313411	18313422	CAGE_peak_8_at_RAB3A_5end
chr19	18313436	18313456	CAGE_peak_4_at_RAB3A_5end
chr19	18313505	18313529	CAGE_peak_5_at_RAB3A_5end
chr19	18314784	18314793	CAGE_peak_3_at_RAB3A_5end
chr19	18314799	18314828	CAGE_peak_2_at_RAB3A_5end
chr19	18314836	18314865	CAGE_peak_1_at_RAB3A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018603	18603169	18614259	1.92	[{'connected_gene': 'CRLF1', 'score': 560.17}, {'connected_gene': 'TMEM59L', 'score': 556.88}, {'connected_gene': 'GC19P020238', 'score': 550.77}, {'connected_gene': 'UBA52', 'score': 18.66}, {'connected_gene': 'REX1BD', 'score': 8.59}, {'connected_gene': 'KLHL26', 'score': 5.39}, {'connected_gene': 'SSBP4', 'score': 4.67}, {'connected_gene': 'KXD1', 'score': 4.49}, {'connected_gene': 'CRTC1', 'score': 1.92}, {'connected_gene': 'GDF1', 'score': 1.92}, {'connected_gene': 'RAB3A', 'score': 1.68}, {'connected_gene': 'PDE4C', 'score': 1.18}, {'connected_gene': 'RN7SL155P', 'score': 0.34}]
chr19	GH19I018191	18191326	18195425	2.07	[{'connected_gene': 'MPV17L2', 'score': 559.49}, {'connected_gene': 'PDE4C', 'score': 24.75}, {'connected_gene': 'IQCN', 'score': 21.06}, {'connected_gene': 'UPF1', 'score': 19.81}, {'connected_gene': 'ENSG00000268030', 'score': 12.62}, {'connected_gene': 'COLGALT1', 'score': 12.36}, {'connected_gene': 'FCHO1', 'score': 10.67}, {'connected_gene': 'ELL', 'score': 10.61}, {'connected_gene': 'IL12RB1', 'score': 7.49}, {'connected_gene': 'ARRDC2', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 0.39}]
chr19	GH19I018202	18202634	18202700	0.58	[{'connected_gene': 'RAB3A', 'score': 550.77}, {'connected_gene': 'MPV17L2', 'score': 0.44}]
chr19	GH19I018203	18202778	18209116	2.45	[{'connected_gene': 'RAB3A', 'score': 550.77}, {'connected_gene': 'LOC102725254', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 43.16}, {'connected_gene': 'UPF1', 'score': 38.42}, {'connected_gene': 'ENSG00000268030', 'score': 33.22}, {'connected_gene': 'PDE4C', 'score': 25.88}, {'connected_gene': 'ENSG00000268938', 'score': 25.63}, {'connected_gene': 'NR2C2AP', 'score': 23.74}, {'connected_gene': 'ENSG00000269191', 'score': 21.04}, {'connected_gene': 'COLGALT1', 'score': 19.81}, {'connected_gene': 'ELL', 'score': 19.48}, {'connected_gene': 'MVB12A', 'score': 13.5}, {'connected_gene': 'LSM4', 'score': 11.46}, {'connected_gene': 'MEF2B', 'score': 11.28}, {'connected_gene': 'PLVAP', 'score': 10.03}, {'connected_gene': 'KXD1', 'score': 10.01}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'MPV17L2', 'score': 7.73}, {'connected_gene': 'IL12RB1', 'score': 5.3}, {'connected_gene': 'LOC729966', 'score': 0.25}]
chr19	GH19I018195	18195764	18196329	0.46	[{'connected_gene': 'PDE4C', 'score': 11.97}, {'connected_gene': 'LSM4', 'score': 11.2}, {'connected_gene': 'IQCN', 'score': 9.72}, {'connected_gene': 'MPV17L2', 'score': 9.29}, {'connected_gene': 'RAB3A', 'score': 0.44}]
chr19	GH19I018289	18289167	18295305	1.86	[{'connected_gene': 'NR2C2AP', 'score': 74.06}, {'connected_gene': 'ENSG00000268030', 'score': 70.16}, {'connected_gene': 'IQCN', 'score': 52.86}, {'connected_gene': 'SUGP2', 'score': 50.82}, {'connected_gene': 'UPF1', 'score': 46.14}, {'connected_gene': 'COLGALT1', 'score': 38.67}, {'connected_gene': 'ENSG00000268938', 'score': 36.46}, {'connected_gene': 'MVB12A', 'score': 29.85}, {'connected_gene': 'MEF2B', 'score': 28.66}, {'connected_gene': 'ENSG00000269191', 'score': 24.27}, {'connected_gene': 'GTPBP3', 'score': 22.9}, {'connected_gene': 'ELL', 'score': 21.85}, {'connected_gene': 'LOC100507551', 'score': 19.66}, {'connected_gene': 'RPL18A', 'score': 19.4}, {'connected_gene': 'JUND', 'score': 12.78}, {'connected_gene': 'IFI30', 'score': 12.73}, {'connected_gene': 'UBA52', 'score': 11.73}, {'connected_gene': 'TMEM161A', 'score': 11.06}, {'connected_gene': 'ENSG00000269815', 'score': 10.91}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'IL12RB1', 'score': 7.16}, {'connected_gene': 'ARRDC2', 'score': 5.99}, {'connected_gene': 'JAK3', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 4.8}, {'connected_gene': 'LRRC25', 'score': 4.05}, {'connected_gene': 'KCNN1', 'score': 2.58}, {'connected_gene': 'KLHL26', 'score': 2.35}, {'connected_gene': 'PGPEP1', 'score': 2.12}, {'connected_gene': 'REX1BD', 'score': 1.39}, {'connected_gene': 'SSBP4', 'score': 1.31}, {'connected_gene': 'CRTC1', 'score': 1.28}, {'connected_gene': 'MAST3', 'score': 1.21}, {'connected_gene': 'GC19P020225', 'score': 0.77}, {'connected_gene': 'RPL39P38', 'score': 0.44}]
chr19	GH19I017841	17841040	17843588	1.62	[{'connected_gene': 'GC19M017837', 'score': 550.77}, {'connected_gene': 'INSL3', 'score': 13.35}, {'connected_gene': 'RAB3A', 'score': 6.98}, {'connected_gene': 'JAK3', 'score': 4.8}]