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
ENST00000589253	[[45393825, 45393913], [45394663, 45394782]]	[[45394672, 45394782]]
ENST00000405636	[[45394476, 45394571], [45394663, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406935]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]
ENST00000252487	[[45394476, 45394571], [45394666, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406946]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]
ENST00000592434	[[45394487, 45394571], [45394663, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45406943]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404611]]
ENST00000426677	[[45394492, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406885]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]
ENST00000589649	[[45394493, 45394571], [45394663, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397324]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397324]]
ENST00000592041	[[45397085, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404709], [45406286, 45406389]]	[[45397085, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404611]]
NM_006114	[[45394476, 45394571], [45394666, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406946]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]
NM_001128916	[[45394476, 45394571], [45394663, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406946]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]
NM_001128917	[[45394476, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406946]]	[[45394672, 45394946], [45395649, 45395717], [45396093, 45396186], [45397036, 45397138], [45397217, 45397323], [45403986, 45404109], [45404284, 45404361], [45404464, 45404567], [45406286, 45406426]]

Promoter

Chrom	Start	End	Description
chr19	45394497	45394546	CAGE_peak_1_at_TOMM40_5end
chr19	45394548	45394579	CAGE_peak_2_at_TOMM40_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I044856	44856002	44859542	1.31	[{'connected_gene': 'NECTIN2', 'score': 17.68}, {'connected_gene': 'APOE', 'score': 12.36}, {'connected_gene': 'ENSG00000266903', 'score': 5.21}, {'connected_gene': 'PIR35850', 'score': 0.77}, {'connected_gene': 'TOMM40', 'score': 0.29}]
chr19	GH19I044868	44868106	44871193	1.26	[{'connected_gene': 'NECTIN2', 'score': 53.81}, {'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'ZNF225', 'score': 5.52}, {'connected_gene': 'PIR35850', 'score': 0.37}]
chr19	GH19I044874	44874743	44875423	0.2	[{'connected_gene': 'NECTIN2', 'score': 6.35}, {'connected_gene': 'TOMM40', 'score': 0.37}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044873	44873409	44874661	0.2	[{'connected_gene': 'NECTIN2', 'score': 33.4}, {'connected_gene': 'TOMM40', 'score': 0.37}, {'connected_gene': 'PIR35850', 'score': 0.37}]
chr19	GH19I044875	44875578	44877776	0.66	[{'connected_gene': 'NECTIN2', 'score': 28.55}, {'connected_gene': 'ENSG00000266903', 'score': 5.82}, {'connected_gene': 'TOMM40', 'score': 0.39}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044878	44878154	44879965	0.63	[{'connected_gene': 'NECTIN2', 'score': 22.0}, {'connected_gene': 'TOMM40', 'score': 0.39}, {'connected_gene': 'PIR35850', 'score': 0.34}]
chr19	GH19I044903	44903357	44907334	2.23	[{'connected_gene': 'APOE', 'score': 560.16}, {'connected_gene': 'ZNF180', 'score': 43.5}, {'connected_gene': 'ZNF224', 'score': 37.41}, {'connected_gene': 'CLASRP', 'score': 34.57}, {'connected_gene': 'ZNF45', 'score': 33.34}, {'connected_gene': 'ZNF230', 'score': 32.18}, {'connected_gene': 'ZNF284', 'score': 26.1}, {'connected_gene': 'ZNF234', 'score': 24.29}, {'connected_gene': 'FBXO46', 'score': 23.48}, {'connected_gene': 'ENSG00000269148', 'score': 21.0}, {'connected_gene': 'ZNF225', 'score': 12.72}, {'connected_gene': 'NECTIN2', 'score': 5.81}, {'connected_gene': 'OPA3', 'score': 4.49}, {'connected_gene': 'GC19P044899', 'score': 0.44}, {'connected_gene': 'GC19M044904', 'score': 0.44}, {'connected_gene': 'TOMM40', 'score': 0.39}]
chr19	GH19I044889	44889191	44894261	2.4	[{'connected_gene': 'TOMM40', 'score': 554.7}, {'connected_gene': 'ENSG00000267282', 'score': 550.77}, {'connected_gene': 'ZNF180', 'score': 44.22}, {'connected_gene': 'ZNF234', 'score': 32.3}, {'connected_gene': 'ZNF45', 'score': 25.11}, {'connected_gene': 'ZNF224', 'score': 19.01}, {'connected_gene': 'CLASRP', 'score': 16.41}, {'connected_gene': 'ZNF155', 'score': 14.94}, {'connected_gene': 'ENSG00000269148', 'score': 12.84}, {'connected_gene': 'ZNF225', 'score': 12.55}, {'connected_gene': 'FBXO46', 'score': 12.31}, {'connected_gene': 'ZNF284', 'score': 12.08}, {'connected_gene': 'ZNF230', 'score': 11.72}, {'connected_gene': 'MRPS15P2', 'score': 11.65}, {'connected_gene': 'DM1-AS', 'score': 10.45}, {'connected_gene': 'SYMPK', 'score': 10.32}, {'connected_gene': 'RELB', 'score': 10.26}, {'connected_gene': 'ENSG00000259605', 'score': 9.98}, {'connected_gene': 'APOE', 'score': 5.93}, {'connected_gene': 'NECTIN2', 'score': 5.45}, {'connected_gene': 'APOC1P1', 'score': 4.36}, {'connected_gene': 'GEMIN7', 'score': 1.91}, {'connected_gene': 'ZNF285', 'score': 1.21}, {'connected_gene': 'GC19P044899', 'score': 0.44}]
chr19	GH19I044866	44866423	44867000	0.43	[{'connected_gene': 'TOMM40', 'score': 12.96}, {'connected_gene': 'APOE', 'score': 12.02}, {'connected_gene': 'PIR35850', 'score': 0.39}, {'connected_gene': 'NECTIN2', 'score': 0.34}]