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
ENST00000321753	[[42470254, 42470345], [42471574, 42471656], [42473283, 42475445]]	[[42473297, 42474077]]
ENST00000419475	[[42470360, 42470476], [42471574, 42471656], [42473283, 42473622]]	[[42473297, 42473622]]

Promoter

Chrom	Start	End	Description
chr22	42470244	42470288	CAGE_peak_1_at_FAM109B_5end
chr22	42470289	42470319	CAGE_peak_2_at_FAM109B_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	GH22I041467	41467323	41474336	2.48	[{'connected_gene': 'PHF5A', 'score': 563.52}, {'connected_gene': 'ACO2', 'score': 550.77}, {'connected_gene': 'POLR3H', 'score': 16.79}, {'connected_gene': 'MEI1', 'score': 14.5}, {'connected_gene': 'TOB2', 'score': 12.26}, {'connected_gene': 'EP300', 'score': 11.32}, {'connected_gene': 'NAGA', 'score': 10.56}, {'connected_gene': 'CSDC2', 'score': 10.44}, {'connected_gene': 'L3MBTL2', 'score': 10.34}, {'connected_gene': 'FAM109B', 'score': 9.96}, {'connected_gene': 'ENSG00000232754', 'score': 9.94}, {'connected_gene': 'SMDT1', 'score': 4.36}, {'connected_gene': 'GC22M042674', 'score': 0.34}]
chr22	GH22I042188	42188935	42189084	0.64	[{'connected_gene': 'POLDIP3', 'score': 13.82}, {'connected_gene': 'NAGA', 'score': 13.17}, {'connected_gene': 'RPL5P34', 'score': 12.35}, {'connected_gene': 'TCF20', 'score': 12.12}, {'connected_gene': 'RN7SKP80', 'score': 11.61}, {'connected_gene': 'FAM109B', 'score': 11.54}, {'connected_gene': 'PHF5A', 'score': 11.15}, {'connected_gene': 'XRCC6', 'score': 11.13}, {'connected_gene': 'EP300-AS1', 'score': 11.11}, {'connected_gene': 'CYP2D7', 'score': 10.7}, {'connected_gene': 'ENSG00000232710', 'score': 10.68}, {'connected_gene': 'CYP2D6', 'score': 10.67}, {'connected_gene': 'PIR32029', 'score': 0.31}, {'connected_gene': 'CYP2D8P', 'score': 0.29}]
chr22	GH22I042612	42612335	42616633	2.34	[{'connected_gene': 'POLDIP3', 'score': 600.25}, {'connected_gene': 'GC22P042618', 'score': 550.77}, {'connected_gene': 'GC22P042614', 'score': 550.77}, {'connected_gene': 'ENSG00000270022', 'score': 550.77}, {'connected_gene': 'GC22P042619', 'score': 550.77}, {'connected_gene': 'RNU12', 'score': 550.77}, {'connected_gene': 'RPL5P34', 'score': 48.24}, {'connected_gene': 'XRCC6', 'score': 42.23}, {'connected_gene': 'NAGA', 'score': 37.84}, {'connected_gene': 'RRP7BP', 'score': 23.91}, {'connected_gene': 'RN7SKP80', 'score': 21.78}, {'connected_gene': 'CYB5R3', 'score': 19.23}, {'connected_gene': 'FAM109B', 'score': 18.43}, {'connected_gene': 'SERHL2', 'score': 16.32}, {'connected_gene': 'ATP5MGL', 'score': 11.65}, {'connected_gene': 'ARFGAP3', 'score': 10.51}, {'connected_gene': 'PIR37149', 'score': 0.39}]
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	GH22I041242	41242279	41245740	0.59	[{'connected_gene': 'EP300', 'score': 16.61}, {'connected_gene': 'PHF5A', 'score': 12.75}, {'connected_gene': 'ENSG00000272834', 'score': 12.1}, {'connected_gene': 'ENSG00000232754', 'score': 11.48}, {'connected_gene': 'XRCC6', 'score': 11.09}, {'connected_gene': 'TEF', 'score': 9.11}, {'connected_gene': 'RANGAP1', 'score': 6.3}, {'connected_gene': 'CHADL', 'score': 5.92}, {'connected_gene': 'ZC3H7B', 'score': 5.36}, {'connected_gene': 'FAM109B', 'score': 4.14}, {'connected_gene': 'MIR6889', 'score': 0.44}]
chr22	GH22I042073	42073493	42075850	1.49	[{'connected_gene': 'FAM109B', 'score': 556.1}, {'connected_gene': 'SNORD13P1', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 81.07}, {'connected_gene': 'CYP2D6', 'score': 21.33}, {'connected_gene': 'EP300', 'score': 17.54}, {'connected_gene': 'ENSG00000232754', 'score': 13.4}, {'connected_gene': 'EP300-AS1', 'score': 12.95}, {'connected_gene': 'POLDIP3', 'score': 12.08}, {'connected_gene': 'XRCC6', 'score': 11.0}, {'connected_gene': 'RN7SKP80', 'score': 10.03}, {'connected_gene': 'PHF5A', 'score': 9.97}, {'connected_gene': 'NAGA', 'score': 4.9}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.62}]
chr22	GH22I042201	42201720	42203464	0.2	[{'connected_gene': 'CYP2D6', 'score': 35.23}, {'connected_gene': 'SMDT1', 'score': 22.13}, {'connected_gene': 'LINC00634', 'score': 6.47}, {'connected_gene': 'FAM109B', 'score': 5.62}, {'connected_gene': 'ENSG00000227370', 'score': 4.83}, {'connected_gene': 'PIR32029', 'score': 0.39}, {'connected_gene': 'CYP2D8P', 'score': 0.25}, {'connected_gene': 'TCF20', 'score': 0.11}]
chr22	GH22I042217	42217201	42218400	0.69	[{'connected_gene': 'CYP2D6', 'score': 45.7}, {'connected_gene': 'SMDT1', 'score': 41.68}, {'connected_gene': 'CYP2D7', 'score': 11.66}, {'connected_gene': 'ENSG00000232710', 'score': 11.65}, {'connected_gene': 'NFAM1', 'score': 11.19}, {'connected_gene': 'NAGA', 'score': 9.38}, {'connected_gene': 'FAM109B', 'score': 9.37}, {'connected_gene': 'CENPM', 'score': 9.19}, {'connected_gene': 'PIR32029', 'score': 0.77}, {'connected_gene': 'GC22P042256', 'score': 0.44}, {'connected_gene': 'TCF20', 'score': 0.13}]
chr22	GH22I042170	42170799	42174522	0.8	[{'connected_gene': 'CYP2D6', 'score': 39.82}, {'connected_gene': 'CYP2D7', 'score': 11.79}, {'connected_gene': 'ENSG00000232710', 'score': 11.77}, {'connected_gene': 'NFAM1', 'score': 11.44}, {'connected_gene': 'TCF20', 'score': 11.44}, {'connected_gene': 'NDUFA6', 'score': 10.63}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.63}, {'connected_gene': 'RNU6ATAC22P', 'score': 9.5}, {'connected_gene': 'FAM109B', 'score': 6.1}, {'connected_gene': 'SMDT1', 'score': 5.91}, {'connected_gene': 'CYP2D8P', 'score': 0.37}, {'connected_gene': 'PIR32029', 'score': 0.26}]
chr22	GH22I042162	42161452	42163953	0.49	[{'connected_gene': 'CYP2D6', 'score': 48.53}, {'connected_gene': 'ENSG00000232710', 'score': 12.78}, {'connected_gene': 'NFAM1', 'score': 11.25}, {'connected_gene': 'TCF20', 'score': 11.23}, {'connected_gene': 'FAM109B', 'score': 6.06}, {'connected_gene': 'SMDT1', 'score': 6.05}, {'connected_gene': 'SNU13', 'score': 5.65}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.2}, {'connected_gene': 'CYP2D8P', 'score': 0.44}, {'connected_gene': 'PIR32029', 'score': 0.23}]
chr22	GH22I041851	41851897	41854027	0.46	[{'connected_gene': 'RNU6ATAC22P', 'score': 11.02}, {'connected_gene': 'CYP2D6', 'score': 10.17}, {'connected_gene': 'PMM1', 'score': 9.54}, {'connected_gene': 'SMDT1', 'score': 5.37}, {'connected_gene': 'MEI1', 'score': 4.81}, {'connected_gene': 'FAM109B', 'score': 4.1}, {'connected_gene': 'SREBF2', 'score': 0.37}, {'connected_gene': 'ENSG00000184068', 'score': 0.37}, {'connected_gene': 'MIR33A', 'score': 0.25}]
chr22	GH22I041379	41379944	41383982	2.48	[{'connected_gene': 'LOC105373042', 'score': 550.77}, {'connected_gene': 'TEF', 'score': 550.39}, {'connected_gene': 'MEI1', 'score': 18.71}, {'connected_gene': 'POLR3H', 'score': 16.6}, {'connected_gene': 'PMM1', 'score': 11.42}, {'connected_gene': 'FAM109B', 'score': 9.96}, {'connected_gene': 'XPNPEP3', 'score': 4.68}, {'connected_gene': 'SMDT1', 'score': 4.25}, {'connected_gene': 'CSDC2', 'score': 4.13}, {'connected_gene': 'PIR38134', 'score': 0.39}, {'connected_gene': 'GC22P041361', 'score': 0.34}]
chr22	GH22I042275	42275088	42275970	0.46	[{'connected_gene': 'ENSG00000233903', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 29.33}, {'connected_gene': 'TCF20', 'score': 11.59}, {'connected_gene': 'NFAM1', 'score': 11.03}, {'connected_gene': 'FAM109B', 'score': 5.32}, {'connected_gene': 'PIR45664', 'score': 0.44}, {'connected_gene': 'OGFRP1', 'score': 0.44}, {'connected_gene': 'GC22M042609', 'score': 0.39}]
chr22	GH22I041966	41966339	41967302	0.86	[{'connected_gene': 'GC22M042606', 'score': 550.77}, {'connected_gene': 'SMDT1', 'score': 22.01}, {'connected_gene': 'FAM109B', 'score': 4.2}, {'connected_gene': 'LINC00634', 'score': 0.39}]
chr22	GH22I042278	42278428	42280585	0.65	[{'connected_gene': 'ENSG00000273366', 'score': 550.77}, {'connected_gene': 'CYP2D6', 'score': 45.24}, {'connected_gene': 'SMDT1', 'score': 43.89}, {'connected_gene': 'NFAM1', 'score': 11.41}, {'connected_gene': 'ENSG00000232710', 'score': 11.39}, {'connected_gene': 'CYP2D7', 'score': 11.38}, {'connected_gene': 'TCF20', 'score': 10.99}, {'connected_gene': 'NDUFA6', 'score': 10.68}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.68}, {'connected_gene': 'FAM109B', 'score': 6.36}, {'connected_gene': 'GC22M042609', 'score': 0.44}]