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
ENST00000412113	[[42394728, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42422769, 42423266], [42425942, 42426030], [42426723, 42426827], [42428396, 42428491], [42428634, 42428773]]	[[42394822, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42422769, 42423185]]
ENST00000329620	[[42394728, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423266], [42425942, 42426030], [42426723, 42428933]]	[[42394822, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423185]]
ENST00000436265	[[42394775, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423266], [42425942, 42426030], [42426723, 42426827], [42454293, 42454460]]	[[42394822, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423185]]
ENST00000475341	[[42394791, 42394884], [42416007, 42416100], [42418252, 42418360], [42422769, 42423044]]	None
ENST00000328823	[[42394791, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42424479]]	[[42394822, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423185]]
ENST00000461730	[[42394796, 42394884], [42397103, 42397341], [42397524, 42397703], [42398663, 42399467]]	None
ENST00000445185	[[42394796, 42394884], [42415314, 42415423], [42415759, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42422798]]	[[42394822, 42394884], [42415314, 42415423], [42415759, 42415807], [42416007, 42416040]]
ENST00000543212	[[42415716, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423266], [42425942, 42426030], [42426723, 42426827], [42428634, 42428654]]	[[42415716, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423185]]
ENST00000487176	[[42423166, 42423266], [42425942, 42426030], [42426723, 42426827], [42428634, 42428773]]	None
ENST00000470812	[[42426549, 42426827], [42428634, 42428935]]	None
NM_152613	[[42394728, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42424479]]	[[42394822, 42394884], [42415314, 42415423], [42415665, 42415807], [42416007, 42416100], [42418252, 42418360], [42422769, 42423185]]

Promoter

Chrom	Start	End	Description
chr22	42394747	42394754	CAGE_peak_2_at_WBP2NL_5end
chr22	42394780	42394821	CAGE_peak_1_at_WBP2NL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I042077	42077323	42081200	2.06	[{'connected_gene': 'SMDT1', 'score': 635.76}, {'connected_gene': 'CYP2D6', 'score': 44.06}, {'connected_gene': 'XRCC6', 'score': 31.23}, {'connected_gene': 'EP300', 'score': 26.97}, {'connected_gene': 'EP300-AS1', 'score': 22.71}, {'connected_gene': 'PHF5A', 'score': 12.97}, {'connected_gene': 'RPL5P34', 'score': 11.45}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.65}, {'connected_gene': 'WBP2NL', 'score': 4.24}, {'connected_gene': 'SNORD13P1', 'score': 0.77}, {'connected_gene': 'FAM109B', 'score': 0.44}]
chr22	GH22I042021	42021083	42023499	0.79	[{'connected_gene': 'SMDT1', 'score': 40.6}, {'connected_gene': 'CYP2D6', 'score': 33.5}, {'connected_gene': 'WBP2NL', 'score': 33.24}, {'connected_gene': 'SLC25A5P1', 'score': 12.85}, {'connected_gene': 'SEPT3', 'score': 12.32}, {'connected_gene': 'NAGA', 'score': 11.73}, {'connected_gene': 'FAM109B', 'score': 11.71}, {'connected_gene': 'TCF20', 'score': 10.12}, {'connected_gene': 'LINC00634', 'score': 7.27}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.46}, {'connected_gene': 'GC22P042034', 'score': 0.39}, {'connected_gene': 'PIR41640', 'score': 0.39}]
chr22	GH22I041895	41895563	41896005	0.31	[{'connected_gene': 'CENPM', 'score': 11.22}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'WBP2NL', 'score': 4.55}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.21}, {'connected_gene': 'ENSG00000184068', 'score': 0.21}]
chr22	GH22I041945	41945569	41948289	2.22	[{'connected_gene': 'CENPM', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 31.77}, {'connected_gene': 'XRCC6', 'score': 27.9}, {'connected_gene': 'EP300-AS1', 'score': 24.03}, {'connected_gene': 'WBP2NL', 'score': 20.27}, {'connected_gene': 'SMDT1', 'score': 19.4}, {'connected_gene': 'ENSG00000232754', 'score': 14.6}, {'connected_gene': 'NAGA', 'score': 12.65}, {'connected_gene': 'MEI1', 'score': 12.07}, {'connected_gene': 'POLDIP3', 'score': 12.05}, {'connected_gene': 'SNU13', 'score': 11.06}, {'connected_gene': 'PHF5A', 'score': 9.91}, {'connected_gene': 'GC22P041963', 'score': 0.39}]
chr22	GH22I041890	41890848	41892494	0.2	[{'connected_gene': 'CENPM', 'score': 11.71}, {'connected_gene': 'TNFRSF13C', 'score': 11.52}, {'connected_gene': 'SNU13', 'score': 10.84}, {'connected_gene': 'C22orf46', 'score': 10.84}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.51}, {'connected_gene': 'WBP2NL', 'score': 9.28}, {'connected_gene': 'SMDT1', 'score': 6.59}, {'connected_gene': 'ENSG00000227370', 'score': 5.64}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'SREBF2', 'score': 0.22}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}]
chr22	GH22I042364	42364516	42366259	1.45	[{'connected_gene': 'TCF20', 'score': 20.36}, {'connected_gene': 'LINC01315', 'score': 11.52}, {'connected_gene': 'WBP2NL', 'score': 3.53}, {'connected_gene': 'NFAM1', 'score': 1.32}, {'connected_gene': 'GC22M042499', 'score': 0.44}]
chr22	GH22I042031	42031357	42031506	0.75	[{'connected_gene': 'SEPT3', 'score': 12.15}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'FAM109B', 'score': 11.59}, {'connected_gene': 'PIR41640', 'score': 0.77}, {'connected_gene': 'GC22P042034', 'score': 0.77}, {'connected_gene': 'SLC25A5P1', 'score': 0.31}, {'connected_gene': 'WBP2NL', 'score': 0.28}]
chr22	GH22I041864	41864338	41867199	0.38	[{'connected_gene': 'NDUFA6', 'score': 21.13}, {'connected_gene': 'WBP2NL', 'score': 16.21}, {'connected_gene': 'MEI1', 'score': 14.8}, {'connected_gene': 'POLR3H', 'score': 4.23}, {'connected_gene': 'SREBF2', 'score': 0.29}, {'connected_gene': 'ENSG00000184068', 'score': 0.29}, {'connected_gene': 'MIR33A', 'score': 0.28}]
chr22	GH22I042069	42069294	42071775	2.03	[{'connected_gene': 'NAGA', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 85.43}, {'connected_gene': 'CYP2D6', 'score': 50.13}, {'connected_gene': 'L3MBTL2', 'score': 14.92}, {'connected_gene': 'RRP7BP', 'score': 12.29}, {'connected_gene': 'WBP2NL', 'score': 5.11}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.6}, {'connected_gene': 'GC22P042034', 'score': 0.28}, {'connected_gene': 'PIR41640', 'score': 0.28}]
chr22	GH22I041897	41897802	41900194	0.63	[{'connected_gene': 'MIR33A', 'score': 550.77}, {'connected_gene': 'NDUFA6', 'score': 31.08}, {'connected_gene': 'TNFRSF13C', 'score': 17.62}, {'connected_gene': 'CYP2D6', 'score': 11.29}, {'connected_gene': 'CENPM', 'score': 11.23}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.55}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'WBP2NL', 'score': 4.58}, {'connected_gene': 'ENSG00000184068', 'score': 0.21}, {'connected_gene': 'SREBF2', 'score': 0.2}]
chr22	GH22I041951	41951257	41951406	0.59	[{'connected_gene': 'LINC00634', 'score': 550.77}, {'connected_gene': 'WBP2NL', 'score': 11.11}, {'connected_gene': 'CENPM', 'score': 0.77}]
chr22	GH22I041815	41815622	41819505	1.02	[{'connected_gene': 'EP300', 'score': 78.97}, {'connected_gene': 'RN7SKP80', 'score': 67.63}, {'connected_gene': 'PHF5A', 'score': 62.5}, {'connected_gene': 'POLDIP3', 'score': 57.74}, {'connected_gene': 'ENSG00000232754', 'score': 34.6}, {'connected_gene': 'RPL5P34', 'score': 32.78}, {'connected_gene': 'RRP7BP', 'score': 32.44}, {'connected_gene': 'L3MBTL2', 'score': 30.67}, {'connected_gene': 'XRCC6', 'score': 28.71}, {'connected_gene': 'DNAJB7', 'score': 28.65}, {'connected_gene': 'SLC25A17', 'score': 23.58}, {'connected_gene': 'MEI1', 'score': 23.52}, {'connected_gene': 'EP300-AS1', 'score': 22.13}, {'connected_gene': 'LOC100506544', 'score': 21.01}, {'connected_gene': 'ZC3H7B', 'score': 20.69}, {'connected_gene': 'SNU13', 'score': 19.47}, {'connected_gene': 'POLR3H', 'score': 18.94}, {'connected_gene': 'TOB2', 'score': 13.65}, {'connected_gene': 'NAGA', 'score': 11.65}, {'connected_gene': 'XPNPEP3', 'score': 10.57}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.48}, {'connected_gene': 'C22orf46', 'score': 10.3}, {'connected_gene': 'TEF', 'score': 10.01}, {'connected_gene': 'WBP2NL', 'score': 9.81}, {'connected_gene': 'ENSG00000227370', 'score': 4.53}, {'connected_gene': 'CCDC134', 'score': 4.36}, {'connected_gene': 'PIR36580', 'score': 0.77}, {'connected_gene': 'PIR35601', 'score': 0.44}]
chr22	GH22I041957	41957401	41958532	1.03	[{'connected_gene': 'WBP2NL', 'score': 13.51}, {'connected_gene': 'SMDT1', 'score': 11.25}, {'connected_gene': 'LINC00634', 'score': 0.44}, {'connected_gene': 'GC22M042606', 'score': 0.44}]
chr22	GH22I042388	42388485	42388580	0.79	[{'connected_gene': 'WBP2NL', 'score': 4.29}, {'connected_gene': 'SEPT3', 'score': 1.17}, {'connected_gene': 'GC22M042646', 'score': 0.77}, {'connected_gene': 'GC22P042375', 'score': 0.39}, {'connected_gene': 'NFAM1', 'score': 0.25}]
chr22	GH22I042065	42065437	42065626	0.38	[{'connected_gene': 'WBP2NL', 'score': 4.26}, {'connected_gene': 'NAGA', 'score': 0.44}, {'connected_gene': 'PIR41640', 'score': 0.29}, {'connected_gene': 'GC22P042034', 'score': 0.29}]
chr22	GH22I041875	41875030	41876338	0.2	[{'connected_gene': 'WBP2NL', 'score': 4.14}, {'connected_gene': 'MIR33A', 'score': 0.31}, {'connected_gene': 'SREBF2', 'score': 0.26}, {'connected_gene': 'ENSG00000184068', 'score': 0.26}]
chr22	GH22I041960	41960238	41960951	0.72	[{'connected_gene': 'WBP2NL', 'score': 16.62}, {'connected_gene': 'RN7SKP80', 'score': 14.77}, {'connected_gene': 'POLDIP3', 'score': 14.02}, {'connected_gene': 'EP300', 'score': 11.85}, {'connected_gene': 'RRP7BP', 'score': 10.89}, {'connected_gene': 'SMDT1', 'score': 10.0}, {'connected_gene': 'SNU13', 'score': 5.4}, {'connected_gene': 'GC22M042606', 'score': 0.44}, {'connected_gene': 'LINC00634', 'score': 0.44}]
chr22	GH22I041998	41998104	41999546	1.77	[{'connected_gene': 'WBP2NL', 'score': 571.4}, {'connected_gene': 'LOC102723706', 'score': 550.77}, {'connected_gene': 'CYP2D6', 'score': 32.78}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.42}, {'connected_gene': 'SLC25A5P1', 'score': 0.77}, {'connected_gene': 'SEPT3', 'score': 0.34}]
chr22	GH22I041892	41892580	41895239	0.31	[{'connected_gene': 'MEI1', 'score': 12.68}, {'connected_gene': 'CENPM', 'score': 11.22}, {'connected_gene': 'SNU13', 'score': 10.57}, {'connected_gene': 'C22orf46', 'score': 10.57}, {'connected_gene': 'SMDT1', 'score': 10.54}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.37}, {'connected_gene': 'TNFRSF13C', 'score': 6.11}, {'connected_gene': 'WBP2NL', 'score': 4.54}, {'connected_gene': 'MIR33A', 'score': 0.44}, {'connected_gene': 'ENSG00000184068', 'score': 0.22}, {'connected_gene': 'SREBF2', 'score': 0.21}]
chr22	GH22I041699	41699001	41700680	1.45	[{'connected_gene': 'MEI1', 'score': 570.58}, {'connected_gene': 'PIR60459', 'score': 550.77}, {'connected_gene': 'CHADL', 'score': 6.41}, {'connected_gene': 'WBP2NL', 'score': 4.54}, {'connected_gene': 'ENSG00000273424', 'score': 4.19}, {'connected_gene': 'GC22M042633', 'score': 0.44}]
chr22	GH22I041883	41883419	41884746	0.79	[{'connected_gene': 'CYP2D6', 'score': 15.49}, {'connected_gene': 'SHISA8', 'score': 12.94}, {'connected_gene': 'SREBF2', 'score': 12.88}, {'connected_gene': 'TNFRSF13C', 'score': 11.41}, {'connected_gene': 'CENPM', 'score': 11.31}, {'connected_gene': 'RNU6ATAC22P', 'score': 10.99}, {'connected_gene': 'WBP2NL', 'score': 10.28}, {'connected_gene': 'SMDT1', 'score': 8.62}, {'connected_gene': 'MEI1', 'score': 6.64}, {'connected_gene': 'NDUFA6', 'score': 5.66}, {'connected_gene': 'MIR33A', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.25}]
chr22	GH22I041961	41961017	41961166	0.86	[{'connected_gene': 'RN7SKP80', 'score': 89.15}, {'connected_gene': 'EP300', 'score': 87.93}, {'connected_gene': 'PHF5A', 'score': 80.71}, {'connected_gene': 'POLDIP3', 'score': 68.19}, {'connected_gene': 'RPL5P34', 'score': 42.89}, {'connected_gene': 'RRP7BP', 'score': 40.9}, {'connected_gene': 'ENSG00000232754', 'score': 34.6}, {'connected_gene': 'NDUFA6', 'score': 31.25}, {'connected_gene': 'L3MBTL2', 'score': 30.67}, {'connected_gene': 'ZC3H7B', 'score': 30.66}, {'connected_gene': 'XRCC6', 'score': 28.68}, {'connected_gene': 'EP300-AS1', 'score': 22.13}, {'connected_gene': 'LOC100506544', 'score': 21.0}, {'connected_gene': 'SNU13', 'score': 19.41}, {'connected_gene': 'WBP2NL', 'score': 19.18}, {'connected_gene': 'POLR3H', 'score': 18.93}, {'connected_gene': 'TEF', 'score': 18.25}, {'connected_gene': 'NAGA', 'score': 11.73}, {'connected_gene': 'CYB5R3', 'score': 10.88}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.55}, {'connected_gene': 'SMDT1', 'score': 10.36}, {'connected_gene': 'C22orf46', 'score': 10.23}, {'connected_gene': 'GC22M042606', 'score': 0.44}, {'connected_gene': 'LINC00634', 'score': 0.44}]
chr22	GH22I041983	41983617	41983766	0.38	[{'connected_gene': 'ENSG00000224883', 'score': 550.77}, {'connected_gene': 'SEPT3', 'score': 0.44}, {'connected_gene': 'WBP2NL', 'score': 0.39}]
chr22	GH22I042047	42047277	42047426	0.59	[{'connected_gene': 'PIR41640', 'score': 0.39}, {'connected_gene': 'GC22P042034', 'score': 0.39}, {'connected_gene': 'NAGA', 'score': 0.34}, {'connected_gene': 'WBP2NL', 'score': 0.23}]
chr22	GH22I041508	41508774	41508957	0.42	[{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'CHADL', 'score': 4.86}, {'connected_gene': 'TEF', 'score': 3.68}, {'connected_gene': 'TOB2', 'score': 1.56}, {'connected_gene': 'WBP2NL', 'score': 1.52}, {'connected_gene': 'SEPT3', 'score': 1.42}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]