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
ENST00000209668	[[100197523, 100197805], [100200582, 100200721], [100201300, 100201436], [100203502, 100203763], [100205555, 100205775], [100205872, 100205960], [100208006, 100208145], [100208720, 100208822], [100212053, 100212185]]	[[100197780, 100197805], [100200582, 100200721], [100201300, 100201436], [100203502, 100203763], [100205555, 100205775], [100205872, 100205960], [100208006, 100208145], [100208720, 100208822], [100212053, 100212071]]
ENST00000503461	[[100202971, 100203763], [100205555, 100205685], [100205829, 100205960], [100208006, 100208145], [100208720, 100208822], [100212053, 100212160]]	None
ENST00000511656	[[100207821, 100208145], [100208720, 100208822], [100212053, 100212140]]	None
NM_000667	[[100197522, 100197805], [100200582, 100200721], [100201300, 100201436], [100203502, 100203763], [100205555, 100205775], [100205872, 100205960], [100208006, 100208145], [100208720, 100208822], [100212053, 100212185]]	[[100197780, 100197805], [100200582, 100200721], [100201300, 100201436], [100203502, 100203763], [100205555, 100205775], [100205872, 100205960], [100208006, 100208145], [100208720, 100208822], [100212053, 100212071]]

Promoter

Chrom	Start	End	Description
chr4	100212132	100212148	CAGE_peak_1_at_ADH1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I098994	98994326	98999450	2.24	[{'connected_gene': 'METAP1', 'score': 550.77}, {'connected_gene': 'MIR3684', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 27.97}, {'connected_gene': 'LOC100507053', 'score': 20.32}, {'connected_gene': 'EIF4E', 'score': 16.14}, {'connected_gene': 'ADH5', 'score': 11.14}, {'connected_gene': 'RNU7-149P', 'score': 11.02}, {'connected_gene': 'ADH1A', 'score': 4.63}, {'connected_gene': 'ADH4', 'score': 4.5}, {'connected_gene': 'ENSG00000263923', 'score': 0.2}]
chr4	GH04I099143	99143614	99145121	1.3	[{'connected_gene': 'ADH4', 'score': 567.47}, {'connected_gene': 'LOC100507053', 'score': 22.86}, {'connected_gene': 'ADH5', 'score': 12.61}, {'connected_gene': 'ADH1A', 'score': 10.47}, {'connected_gene': 'ADH6', 'score': 9.95}, {'connected_gene': 'PIR42405', 'score': 0.28}]
chr4	GH04I099218	99218939	99219856	1.3	[{'connected_gene': 'ADH6', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 11.51}, {'connected_gene': 'ADH1A', 'score': 9.64}, {'connected_gene': 'PCNAP2', 'score': 0.22}, {'connected_gene': 'LOC100507053', 'score': 0.12}]
chr4	GH04I099276	99276504	99276653	0.2	[{'connected_gene': 'ADH6', 'score': 10.88}, {'connected_gene': 'ADH1A', 'score': 0.39}, {'connected_gene': 'LOC100507053', 'score': 0.09}]
chr4	GH04I099351	99351357	99351741	0.34	[{'connected_gene': 'ADH1C', 'score': 566.77}, {'connected_gene': 'ADH1B', 'score': 560.95}, {'connected_gene': 'ADH6', 'score': 24.38}, {'connected_gene': 'ADH1A', 'score': 18.68}, {'connected_gene': 'ADH4', 'score': 16.45}, {'connected_gene': 'PIR40463', 'score': 0.28}]
chr4	GH04I099352	99352617	99353811	0.96	[{'connected_gene': 'ADH1C', 'score': 559.98}, {'connected_gene': 'ADH1B', 'score': 550.77}, {'connected_gene': 'ADH1A', 'score': 12.29}, {'connected_gene': 'ADH5', 'score': 5.73}, {'connected_gene': 'LOC102723576', 'score': 0.23}]
chr4	GH04I099382	99382532	99385657	1.39	[{'connected_gene': 'ADH1C', 'score': 11.45}, {'connected_gene': 'ADH1A', 'score': 8.97}, {'connected_gene': 'MTTP', 'score': 5.12}, {'connected_gene': 'ADH5', 'score': 2.38}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4	GH04I099389	99389539	99391242	0.51	[{'connected_gene': 'ADH1C', 'score': 11.43}, {'connected_gene': 'LOC100507053', 'score': 10.38}, {'connected_gene': 'ADH1A', 'score': 10.2}, {'connected_gene': 'ADH5', 'score': 4.92}, {'connected_gene': 'LOC102723576', 'score': 0.39}]
chr4	GH04I099394	99394544	99396473	0.97	[{'connected_gene': 'ADH1C', 'score': 11.58}, {'connected_gene': 'LOC100507053', 'score': 10.38}, {'connected_gene': 'ADH1A', 'score': 10.19}, {'connected_gene': 'RNU7-149P', 'score': 10.16}, {'connected_gene': 'MTTP', 'score': 4.86}, {'connected_gene': 'LOC102723576', 'score': 0.44}]
chr4	GH04I099381	99381054	99381238	0.39	[{'connected_gene': 'ADH1A', 'score': 36.62}, {'connected_gene': 'ADH4', 'score': 34.81}, {'connected_gene': 'ADH1C', 'score': 27.4}, {'connected_gene': 'ADH1B', 'score': 22.22}, {'connected_gene': 'ADH6', 'score': 14.39}, {'connected_gene': 'LOC100507053', 'score': 10.46}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4	GH04I099290	99290975	99291034	0.79	[{'connected_gene': 'ADH1A', 'score': 558.48}, {'connected_gene': 'ADH6', 'score': 0.19}, {'connected_gene': 'LOC100507053', 'score': 0.08}]
chr4	GH04I099387	99387731	99389429	0.2	[{'connected_gene': 'ADH1A', 'score': 8.53}, {'connected_gene': 'LOC102723576', 'score': 0.37}, {'connected_gene': 'ADH1C', 'score': 0.28}]
chr4	GH04I099321	99321642	99325813	0.88	[{'connected_gene': 'ADH1A', 'score': 22.28}, {'connected_gene': 'LOC100507053', 'score': 11.22}, {'connected_gene': 'ADH1C', 'score': 8.81}, {'connected_gene': 'ENSG00000272777', 'score': 4.65}, {'connected_gene': 'PIR40463', 'score': 0.44}, {'connected_gene': 'ADH1B', 'score': 0.31}]
chr4	GH04I099300	99300200	99302467	0.82	[{'connected_gene': 'ADH1A', 'score': 14.08}, {'connected_gene': 'PIR40463', 'score': 0.39}, {'connected_gene': 'LOC100507053', 'score': 0.08}]
chr4	GH04I099402	99402671	99406253	1.64	[{'connected_gene': 'LOC102723576', 'score': 550.77}, {'connected_gene': 'ADH4', 'score': 14.36}, {'connected_gene': 'ADH6', 'score': 11.33}, {'connected_gene': 'LOC100507053', 'score': 10.93}, {'connected_gene': 'PCNAP1', 'score': 9.94}, {'connected_gene': 'ADH5', 'score': 8.86}, {'connected_gene': 'ADH1A', 'score': 6.13}, {'connected_gene': 'ADH1B', 'score': 2.8}, {'connected_gene': 'ADH1C', 'score': 2.28}]
chr4	GH04I099202	99202201	99203346	0.66	[{'connected_gene': 'LOC100507053', 'score': 20.64}, {'connected_gene': 'ADH6', 'score': 12.09}, {'connected_gene': 'ADH1A', 'score': 10.17}, {'connected_gene': 'PCNAP2', 'score': 0.26}]
chr4	GH04I099042	99042413	99044566	0.2	[{'connected_gene': 'ENSG00000272777', 'score': 28.18}, {'connected_gene': 'RNU7-149P', 'score': 10.49}, {'connected_gene': 'LOC100507053', 'score': 8.02}, {'connected_gene': 'ADH1A', 'score': 4.14}, {'connected_gene': 'ABT1P1', 'score': 0.34}, {'connected_gene': 'METAP1', 'score': 0.25}]