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
ENST00000327430	[[21989231, 21993788], [22004982, 22005350]]	[[21990837, 21993788], [22004982, 22005055]]
ENST00000317492	[[21989233, 21990378], [21993470, 21993788], [22004982, 22005068]]	[[21990166, 21990378], [21993470, 21993788], [22004982, 22005055]]
ENST00000538754	[[21989672, 21990378], [21993470, 21993788], [21994194, 21994634]]	[[21990166, 21990378], [21993470, 21993788], [21994194, 21994261]]
ENST00000546363	[[21989755, 21990378], [21990966, 21993065], [21993470, 21993788], [22004982, 22005036]]	[[21990141, 21990378], [21990966, 21993065], [21993470, 21993788], [22004982, 22005036]]
ENST00000450879	[[21989784, 21990378], [21990966, 21993065], [21993470, 21993788], [21994194, 21994361]]	[[21990141, 21990378], [21990966, 21993065], [21993470, 21993788], [21994194, 21994261]]
ENST00000537235	[[21993282, 21993788], [21994194, 21994347]]	[[21993282, 21993788], [21994194, 21994261]]
ENST00000541965	[[21993378, 21993788], [22005095, 22005238]]	[[21993378, 21993675]]
NM_001291447	[[21989230, 21990378], [21990966, 21993065], [21993470, 21993788], [21994194, 21994542]]	[[21990141, 21990378], [21990966, 21993065], [21993470, 21993788], [21994194, 21994261]]
NR_111967	[[21989230, 21990378], [21993470, 21993788], [21994194, 21994542]]	None
NM_005407	[[21989230, 21993788], [22004982, 22005350]]	[[21990837, 21993788], [22004982, 22005055]]
NM_001291446	[[21989230, 21990378], [21990966, 21993065], [21993470, 21993788], [22004982, 22005350]]	[[21990141, 21990378], [21990966, 21993065], [21993470, 21993788], [22004982, 22005055]]
NR_111966	[[21989230, 21990378], [21993470, 21993788], [22004982, 22005350]]	None

Promoter

Chrom	Start	End	Description
chr14	21994337	21994442	CAGE_peak_1_at_SALL2_5end
chr14	21994449	21994524	CAGE_peak_2_at_SALL2_5end
chr14	21994525	21994547	CAGE_peak_4_at_SALL2_5end
chr14	22005018	22005040	CAGE_peak_6_at_SALL2_5end
chr14	22005062	22005082	CAGE_peak_7_at_SALL2_5end
chr14	22005197	22005261	CAGE_peak_3_at_SALL2_5end
chr14	22005343	22005364	CAGE_peak_5_at_SALL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I021466	21466986	21468218	0.38	[{'connected_gene': 'UBA52P2', 'score': 10.63}, {'connected_gene': 'SNORD8', 'score': 10.62}, {'connected_gene': 'SNORD9', 'score': 10.61}, {'connected_gene': 'SALL2', 'score': 10.35}, {'connected_gene': 'RAB2B', 'score': 8.47}, {'connected_gene': 'TOX4', 'score': 0.44}, {'connected_gene': 'CHD8', 'score': 0.39}]
chr14	GH14I021352	21352131	21353000	0.77	[{'connected_gene': 'SNORD9', 'score': 11.8}, {'connected_gene': 'SNORD8', 'score': 11.79}, {'connected_gene': 'UBA52P2', 'score': 11.77}, {'connected_gene': 'RPGRIP1', 'score': 11.3}, {'connected_gene': 'ENSG00000257096', 'score': 9.6}, {'connected_gene': 'SALL2', 'score': 9.59}, {'connected_gene': 'SUPT16H', 'score': 5.45}, {'connected_gene': 'ENSG00000260830', 'score': 0.29}, {'connected_gene': 'MRPS17P6', 'score': 0.21}]
chr14	GH14I021555	21555479	21559022	1.35	[{'connected_gene': 'SALL2', 'score': 18.45}, {'connected_gene': 'ENSG00000257096', 'score': 11.83}, {'connected_gene': 'UBA52P2', 'score': 10.05}, {'connected_gene': 'SNORD8', 'score': 10.05}, {'connected_gene': 'SNORD9', 'score': 10.04}, {'connected_gene': 'RPGRIP1', 'score': 9.66}, {'connected_gene': 'RBBP4P5', 'score': 0.44}]
chr14	GH14I021524	21524892	21530140	2.43	[{'connected_gene': 'SALL2', 'score': 558.17}, {'connected_gene': 'METTL17', 'score': 19.75}, {'connected_gene': 'METTL3', 'score': 17.36}, {'connected_gene': 'SUPT16H', 'score': 12.94}, {'connected_gene': 'CHD8', 'score': 11.48}, {'connected_gene': 'ENSG00000257096', 'score': 0.44}]
chr14	GH14I021647	21647180	21647724	0.54	[{'connected_gene': 'SALL2', 'score': 5.77}, {'connected_gene': 'RPGRIP1', 'score': 1.53}, {'connected_gene': 'ARL6IP1P1', 'score': 0.77}, {'connected_gene': 'TRAV1-2', 'score': 0.77}, {'connected_gene': 'GC14M021649', 'score': 0.77}, {'connected_gene': 'TRA', 'score': 0.31}]
chr14	GH14I021538	21538235	21540112	0.4	[{'connected_gene': 'SALL2', 'score': 550.77}, {'connected_gene': 'RBBP4P5', 'score': 0.34}]
chr14	GH14I021533	21533079	21537962	1.59	[{'connected_gene': 'SALL2', 'score': 550.77}, {'connected_gene': 'ENSG00000257096', 'score': 0.39}]
chr14	GH14I021274	21274685	21275935	0.31	[{'connected_gene': 'CHD8', 'score': 10.83}, {'connected_gene': 'SNORD9', 'score': 10.18}, {'connected_gene': 'UBA52P2', 'score': 10.18}, {'connected_gene': 'SNORD8', 'score': 10.18}, {'connected_gene': 'SALL2', 'score': 9.51}, {'connected_gene': 'ENSG00000257096', 'score': 9.21}, {'connected_gene': 'HNRNPC', 'score': 0.44}, {'connected_gene': 'RPGRIP1', 'score': 0.39}]
chr14	GH14I021486	21486406	21487183	0.31	[{'connected_gene': 'CHD8', 'score': 11.67}, {'connected_gene': 'ENSG00000257096', 'score': 11.65}, {'connected_gene': 'SALL2', 'score': 11.59}, {'connected_gene': 'UBA52P2', 'score': 9.98}, {'connected_gene': 'SNORD8', 'score': 9.98}, {'connected_gene': 'SNORD9', 'score': 9.97}, {'connected_gene': 'TOX4', 'score': 7.61}, {'connected_gene': 'RAB2B', 'score': 0.44}, {'connected_gene': 'PIR42881', 'score': 0.37}]
chr14	GH14I021436	21436128	21438617	2.06	[{'connected_gene': 'CHD8', 'score': 550.37}, {'connected_gene': 'SUPT16H', 'score': 21.66}, {'connected_gene': 'METTL3', 'score': 21.25}, {'connected_gene': 'UBA52P2', 'score': 11.26}, {'connected_gene': 'SNORD8', 'score': 11.26}, {'connected_gene': 'SNORD9', 'score': 11.23}, {'connected_gene': 'METTL17', 'score': 10.93}, {'connected_gene': 'ENSG00000257096', 'score': 10.34}, {'connected_gene': 'SALL2', 'score': 10.32}, {'connected_gene': 'TOX4', 'score': 4.92}, {'connected_gene': 'RN7SL650P', 'score': 0.44}]
chr14	GH14I021454	21454547	21457467	1.55	[{'connected_gene': 'CHD8', 'score': 560.57}, {'connected_gene': 'SUPT16H', 'score': 19.91}, {'connected_gene': 'HNRNPC', 'score': 15.44}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'METTL3', 'score': 11.13}, {'connected_gene': 'UBA52P2', 'score': 11.02}, {'connected_gene': 'SNORD8', 'score': 11.02}, {'connected_gene': 'SNORD9', 'score': 11.0}, {'connected_gene': 'ENSG00000257096', 'score': 10.6}, {'connected_gene': 'SALL2', 'score': 10.57}, {'connected_gene': 'TOX4', 'score': 8.7}, {'connected_gene': 'RAB2B', 'score': 7.69}, {'connected_gene': 'RN7SL650P', 'score': 0.31}]
chr14	GH14I021343	21343001	21343200	0.2	[{'connected_gene': 'RPGRIP1', 'score': 11.58}, {'connected_gene': 'HNRNPC', 'score': 11.2}, {'connected_gene': 'SNORD9', 'score': 10.95}, {'connected_gene': 'SNORD8', 'score': 10.94}, {'connected_gene': 'UBA52P2', 'score': 10.93}, {'connected_gene': 'SALL2', 'score': 9.9}, {'connected_gene': 'ENSG00000260830', 'score': 0.26}, {'connected_gene': 'MRPS17P6', 'score': 0.23}]
chr14	GH14I021541	21541649	21542170	0.83	[{'connected_gene': 'METTL3', 'score': 51.23}, {'connected_gene': 'SUPT16H', 'score': 35.99}, {'connected_gene': 'METTL17', 'score': 33.31}, {'connected_gene': 'CHD8', 'score': 23.74}, {'connected_gene': 'SALL2', 'score': 18.0}, {'connected_gene': 'RAB2B', 'score': 11.63}, {'connected_gene': 'RBBP4P5', 'score': 0.34}]
chr14	GH14I021297	21297364	21299042	0.75	[{'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'RPGRIP1', 'score': 12.5}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'HNRNPC', 'score': 11.36}, {'connected_gene': 'SNORD9', 'score': 10.65}, {'connected_gene': 'SNORD8', 'score': 10.64}, {'connected_gene': 'UBA52P2', 'score': 10.64}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'SALL2', 'score': 8.79}, {'connected_gene': 'MRPS17P6', 'score': 0.44}, {'connected_gene': 'ENSG00000260830', 'score': 0.17}]
chr14	GH14I021498	21498451	21499286	0.7	[{'connected_gene': 'ENSG00000257096', 'score': 11.7}, {'connected_gene': 'SALL2', 'score': 11.64}, {'connected_gene': 'TOX4', 'score': 9.49}, {'connected_gene': 'PIR42881', 'score': 0.77}, {'connected_gene': 'METTL3', 'score': 0.39}, {'connected_gene': 'RAB2B', 'score': 0.34}]
chr14	GH14I021202	21202642	21202791	0.46	[{'connected_gene': 'ENSG00000257096', 'score': 9.01}, {'connected_gene': 'SALL2', 'score': 9.01}, {'connected_gene': 'LINC00641', 'score': 0.77}, {'connected_gene': 'LOC100129923', 'score': 0.37}]
chr14	GH14I021542	21542945	21544533	0.74	[{'connected_gene': 'ENSG00000257096', 'score': 11.73}, {'connected_gene': 'SALL2', 'score': 0.44}, {'connected_gene': 'RBBP4P5', 'score': 0.34}]
chr14	GH14I021521	21521607	21521796	0.2	[{'connected_gene': 'ENSG00000257096', 'score': 550.77}, {'connected_gene': 'SALL2', 'score': 6.17}]
chr14	GH14I021553	21553071	21554237	0.51	[{'connected_gene': 'ENSG00000257096', 'score': 11.59}, {'connected_gene': 'RPGRIP1', 'score': 9.58}, {'connected_gene': 'UBA52P2', 'score': 9.06}, {'connected_gene': 'SNORD8', 'score': 9.06}, {'connected_gene': 'SNORD9', 'score': 9.05}, {'connected_gene': 'RBBP4P5', 'score': 0.39}, {'connected_gene': 'SALL2', 'score': 0.37}]
chr14	GH14I020622	20622801	20626696	1.24	[{'connected_gene': 'GC14P020627', 'score': 550.77}, {'connected_gene': 'TRL-TAG2-1', 'score': 550.77}, {'connected_gene': 'PIR59363', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 88.47}, {'connected_gene': 'SUPT16H', 'score': 70.11}, {'connected_gene': 'METTL17', 'score': 61.1}, {'connected_gene': 'ENSG00000258515', 'score': 58.38}, {'connected_gene': 'CHD8', 'score': 55.58}, {'connected_gene': 'PARP2', 'score': 44.51}, {'connected_gene': 'TEP1', 'score': 44.16}, {'connected_gene': 'ENSG00000258768', 'score': 30.24}, {'connected_gene': 'OSGEP', 'score': 24.71}, {'connected_gene': 'APEX1', 'score': 21.77}, {'connected_gene': 'PIP4P1', 'score': 19.85}, {'connected_gene': 'TOX4', 'score': 13.64}, {'connected_gene': 'SALL2', 'score': 12.58}, {'connected_gene': 'ANG', 'score': 12.21}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'HNRNPC', 'score': 10.97}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'RPS26P9', 'score': 0.44}]