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
ENST00000449288	[[42372275, 42372587], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385593]]	[[42377677, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385593]]
ENST00000396426	[[42372813, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42394225]]	[[42373068, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42392971]]
ENST00000406029	[[42372848, 42373078], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42393732]]	[[42373068, 42373078], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42392971]]
ENST00000328414	[[42372930, 42373078], [42377648, 42377840], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42394225]]	[[42373068, 42373078], [42377648, 42377840], [42383625, 42383675]]
ENST00000396425	[[42372937, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42394225]]	[[42373068, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390760]]
ENST00000291236	[[42372993, 42373078], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390815]]	[[42373068, 42373078], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390760]]
ENST00000396417	[[42373053, 42373078], [42377648, 42377840], [42383625, 42383763], [42385570, 42385613], [42387585, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42394070]]	[[42373068, 42373078], [42377648, 42377840], [42383625, 42383675]]
ENST00000460267	[[42381645, 42382116], [42383209, 42383291], [42383625, 42383693]]	None
NM_145733	[[42372930, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42394225]]	[[42373068, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390718], [42392905, 42392971]]
NM_019106	[[42372930, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42394225]]	[[42373068, 42373078], [42377648, 42377840], [42381987, 42382116], [42383209, 42383291], [42383625, 42383763], [42385570, 42385688], [42387576, 42387672], [42388667, 42388767], [42390293, 42390345], [42390624, 42390760]]

Promoter

Chrom	Start	End	Description
chr22	42372497	42372549	CAGE_peak_2_at_SEPT3_5end
chr22	42372764	42372868	CAGE_peak_1_at_SEPT3_5end
chr22	42372938	42372947	CAGE_peak_3_at_SEPT3_5end
chr22	42372970	42372971	CAGE_peak_5_at_SEPT3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH22I042444	42443489	42445294	1.69	[{'connected_gene': 'TCF20', 'score': 15.53}, {'connected_gene': 'PHF5A', 'score': 14.73}, {'connected_gene': 'RPL5P34', 'score': 12.22}, {'connected_gene': 'RN7SKP80', 'score': 11.07}, {'connected_gene': 'CYP2D7', 'score': 10.73}, {'connected_gene': 'CYP2D6', 'score': 10.73}, {'connected_gene': 'ENSG00000232710', 'score': 10.73}, {'connected_gene': 'POLDIP3', 'score': 10.38}, {'connected_gene': 'NFAM1', 'score': 2.87}, {'connected_gene': 'SMDT1', 'score': 2.14}, {'connected_gene': 'SEPT3', 'score': 1.53}, {'connected_gene': 'RRP7A', 'score': 1.27}, {'connected_gene': 'LOC101927344', 'score': 0.44}, {'connected_gene': 'SERHL', 'score': 0.22}]
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	GH22I041976	41976600	41977001	1.53	[{'connected_gene': 'SEPT3', 'score': 550.77}, {'connected_gene': 'ENSG00000224883', 'score': 0.44}]
chr22	GH22I042424	42424239	42428760	0.68	[{'connected_gene': 'NDUFA6', 'score': 17.19}, {'connected_gene': 'PHF5A', 'score': 12.7}, {'connected_gene': 'XRCC6', 'score': 11.06}, {'connected_gene': 'RN7SKP80', 'score': 10.78}, {'connected_gene': 'RPL5P34', 'score': 10.28}, {'connected_gene': 'SERHL', 'score': 6.11}, {'connected_gene': 'SEPT3', 'score': 5.5}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.95}, {'connected_gene': 'TSPO', 'score': 4.46}, {'connected_gene': 'ENSG00000273424', 'score': 4.33}, {'connected_gene': 'CYP2D6', 'score': 4.05}, {'connected_gene': 'GC22P042420', 'score': 0.44}, {'connected_gene': 'NFAM1', 'score': 0.39}]
chr22	GH22I041556	41556414	41558671	1.29	[{'connected_gene': 'POLR3H', 'score': 28.09}, {'connected_gene': 'SEPT3', 'score': 3.68}, {'connected_gene': 'LOC105373044', 'score': 0.77}, {'connected_gene': 'CSDC2', 'score': 0.77}, {'connected_gene': 'GC22M042641', 'score': 0.39}]
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	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	GH22I041750	41750033	41750294	0.42	[{'connected_gene': 'RNU6ATAC22P', 'score': 11.34}, {'connected_gene': 'MEI1', 'score': 11.25}, {'connected_gene': 'SEPT3', 'score': 2.7}, {'connected_gene': 'C22orf46', 'score': 1.71}, {'connected_gene': 'ENSG00000206813', 'score': 0.77}, {'connected_gene': 'GC22P041758', 'score': 0.44}]
chr22	GH22I042298	42298874	42301845	1.42	[{'connected_gene': 'RN7SKP80', 'score': 18.09}, {'connected_gene': 'POLDIP3', 'score': 18.07}, {'connected_gene': 'PHF5A', 'score': 13.11}, {'connected_gene': 'XRCC6', 'score': 13.08}, {'connected_gene': 'RPL5P34', 'score': 12.75}, {'connected_gene': 'TCF20', 'score': 11.46}, {'connected_gene': 'ENSG00000273366', 'score': 10.01}, {'connected_gene': 'NDUFA6', 'score': 6.56}, {'connected_gene': 'ENSG00000233903', 'score': 5.55}, {'connected_gene': 'LINC01315', 'score': 5.32}, {'connected_gene': 'CYP2D6', 'score': 5.11}, {'connected_gene': 'NAGA', 'score': 5.03}, {'connected_gene': 'CYP2D8P', 'score': 4.76}, {'connected_gene': 'NFAM1', 'score': 1.86}, {'connected_gene': 'SEPT3', 'score': 1.25}, {'connected_gene': 'GC22P042325', 'score': 0.77}, {'connected_gene': 'GC22M042671', 'score': 0.37}]
chr22	GH22I042340	42340606	42342047	1.36	[{'connected_gene': 'LINC01315', 'score': 7.78}, {'connected_gene': 'SERHL', 'score': 4.87}, {'connected_gene': 'NAGA', 'score': 4.05}, {'connected_gene': 'SEPT3', 'score': 2.14}, {'connected_gene': 'TCF20', 'score': 0.77}, {'connected_gene': 'GC22P042326', 'score': 0.34}]
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	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}]