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
ENST00000305188	[[27631902, 27632124], [27633015, 27633084], [27633878, 27634686], [27637690, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27662833]]	[[27633031, 27633084], [27633878, 27634686], [27637690, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27660955]]
ENST00000397418	[[27632070, 27632124], [27633015, 27633084], [27633878, 27634686], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27660890], [27665710, 27665855], [27668821, 27668856], [27669493, 27670141]]	[[27645444, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27660890], [27665710, 27665745]]
ENST00000522378	[[27632070, 27632124], [27633015, 27633084], [27633878, 27634686], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27660890], [27665710, 27665855], [27668821, 27668856], [27669493, 27670157]]	[[27633031, 27633084], [27633878, 27634686], [27645401, 27645413]]
ENST00000518262	[[27637715, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27657057, 27657118]]	[[27637715, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27657057, 27657118]]
ENST00000523566	[[27629465, 27629585], [27633015, 27633084], [27633878, 27634387]]	[[27633031, 27633084], [27633878, 27634387]]
ENST00000519637	[[27632185, 27632344], [27633015, 27633084], [27633878, 27634224]]	[[27633031, 27633084], [27633878, 27634224]]
ENST00000524293	[[27633013, 27633084], [27633878, 27637612]]	None
ENST00000523910	[[27634026, 27634686], [27637690, 27637721]]	None
NM_001017420	[[27632057, 27632124], [27633015, 27633084], [27633878, 27634686], [27637690, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27662425]]	[[27633031, 27633084], [27633878, 27634686], [27637690, 27637784], [27641516, 27641574], [27645401, 27645519], [27646363, 27646495], [27649479, 27649569], [27650184, 27650328], [27657057, 27657233], [27660822, 27660955]]

Promoter

Chrom	Start	End	Description
chr8	27629459	27629497	CAGE_peak_4_at_ESCO2_5end
chr8	27632034	27632045	CAGE_peak_3_at_ESCO2_5end
chr8	27632047	27632080	CAGE_peak_1_at_ESCO2_5end
chr8	27632083	27632099	CAGE_peak_2_at_ESCO2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I027386	27386155	27392104	1.32	[{'connected_gene': 'CCDC25', 'score': 20.51}, {'connected_gene': 'EPHX2', 'score': 15.58}, {'connected_gene': 'PTK2B', 'score': 11.22}, {'connected_gene': 'CHRNA2', 'score': 10.17}, {'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'MIR6842', 'score': 0.26}]
chr8	GH08I027602	27602144	27604630	1.22	[{'connected_gene': 'CCDC25', 'score': 20.23}, {'connected_gene': 'ENSG00000253875', 'score': 15.11}, {'connected_gene': 'EPHX2', 'score': 11.31}, {'connected_gene': 'CHRNA2', 'score': 11.31}, {'connected_gene': 'ELP3', 'score': 9.89}, {'connected_gene': 'ESCO2', 'score': 9.85}, {'connected_gene': 'RNU6-1276P', 'score': 9.85}, {'connected_gene': 'GULOP', 'score': 6.95}, {'connected_gene': 'MIR6843', 'score': 0.44}, {'connected_gene': 'CLU', 'score': 0.39}]
chr8	GH08I027771	27771563	27775535	2.33	[{'connected_gene': 'CCDC25', 'score': 572.56}, {'connected_gene': 'ESCO2', 'score': 561.65}, {'connected_gene': 'GC08P027774', 'score': 550.77}, {'connected_gene': 'RNU6-1276P', 'score': 550.77}, {'connected_gene': 'CLU', 'score': 9.97}, {'connected_gene': 'ELP3', 'score': 9.78}, {'connected_gene': 'SCARA3', 'score': 4.66}]
chr8	GH08I027740	27740013	27741355	0.52	[{'connected_gene': 'CCDC25', 'score': 32.37}, {'connected_gene': 'ESCO2', 'score': 20.27}, {'connected_gene': 'RNU6-1276P', 'score': 10.99}, {'connected_gene': 'CLU', 'score': 10.08}, {'connected_gene': 'ENSG00000253875', 'score': 0.44}]
chr8	GH08I027765	27765675	27766748	0.59	[{'connected_gene': 'CCDC25', 'score': 21.25}, {'connected_gene': 'ESCO2', 'score': 0.44}, {'connected_gene': 'ENSG00000253875', 'score': 0.29}]
chr8	GH08I027727	27727201	27727599	1.26	[{'connected_gene': 'CCDC25', 'score': 11.73}, {'connected_gene': 'CLU', 'score': 10.82}, {'connected_gene': 'ESCO2', 'score': 10.69}, {'connected_gene': 'RNU6-1276P', 'score': 10.68}, {'connected_gene': 'ENSG00000253875', 'score': 0.44}, {'connected_gene': 'MIR3622B', 'score': 0.31}]
chr8	GH08I027729	27729949	27730640	0.69	[{'connected_gene': 'CCDC25', 'score': 32.63}, {'connected_gene': 'CLU', 'score': 10.81}, {'connected_gene': 'RNU6-1276P', 'score': 10.69}, {'connected_gene': 'ESCO2', 'score': 10.69}, {'connected_gene': 'SCARA3', 'score': 7.1}, {'connected_gene': 'ENSG00000253875', 'score': 0.77}, {'connected_gene': 'MIR3622B', 'score': 0.31}]
chr8	GH08I027625	27625036	27626864	0.96	[{'connected_gene': 'CCDC25', 'score': 11.03}, {'connected_gene': 'RNU6-1276P', 'score': 9.58}, {'connected_gene': 'ESCO2', 'score': 9.58}, {'connected_gene': 'SCARA3', 'score': 0.44}, {'connected_gene': 'CLU', 'score': 0.39}]
chr8	GH08I027744	27744159	27746423	0.38	[{'connected_gene': 'CCDC25', 'score': 32.49}, {'connected_gene': 'RNU6-1276P', 'score': 11.2}, {'connected_gene': 'ESCO2', 'score': 11.2}, {'connected_gene': 'CLU', 'score': 10.39}, {'connected_gene': 'ENSG00000253875', 'score': 0.39}]
chr8	GH08I027372	27372890	27382792	2.03	[{'connected_gene': 'PTK2B', 'score': 561.74}, {'connected_gene': 'CCDC25', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'MIR6842', 'score': 0.22}]
chr8	GH08I027769	27769237	27770190	0.43	[{'connected_gene': 'ESCO2', 'score': 560.2}, {'connected_gene': 'CCDC25', 'score': 0.77}, {'connected_gene': 'ENSG00000253875', 'score': 0.28}]
chr8	GH08I027786	27786384	27786653	0.46	[{'connected_gene': 'ESCO2', 'score': 14.88}, {'connected_gene': 'RNU6-1276P', 'score': 0.39}, {'connected_gene': 'PBK', 'score': 0.23}]
chr8	GH08I027827	27827764	27827873	0.56	[{'connected_gene': 'RNU6-1276P', 'score': 10.69}, {'connected_gene': 'CCDC25', 'score': 10.68}, {'connected_gene': 'ESCO2', 'score': 10.68}, {'connected_gene': 'PBK', 'score': 0.39}]
chr8	GH08I027606	27606077	27606898	0.46	[{'connected_gene': 'RNU6-1276P', 'score': 9.81}, {'connected_gene': 'CCDC25', 'score': 9.81}, {'connected_gene': 'ESCO2', 'score': 9.81}, {'connected_gene': 'GULOP', 'score': 6.45}, {'connected_gene': 'MIR6843', 'score': 0.77}, {'connected_gene': 'CLU', 'score': 0.44}]
chr8	GH08I027383	27383272	27385834	0.63	[{'connected_gene': 'RNU6-1276P', 'score': 9.87}, {'connected_gene': 'CCDC25', 'score': 9.87}, {'connected_gene': 'ESCO2', 'score': 9.87}, {'connected_gene': 'EPHX2', 'score': 4.76}, {'connected_gene': 'MIR6842', 'score': 0.25}, {'connected_gene': 'PTK2B', 'score': 0.19}]
chr8	GH08I027607	27607784	27609383	0.9	[{'connected_gene': 'RNU6-1276P', 'score': 9.81}, {'connected_gene': 'CCDC25', 'score': 9.81}, {'connected_gene': 'ESCO2', 'score': 9.81}, {'connected_gene': 'CLU', 'score': 6.27}, {'connected_gene': 'MIR6843', 'score': 0.77}, {'connected_gene': 'GULOP', 'score': 0.25}]
chr8	GH08I027835	27835811	27838953	2.31	[{'connected_gene': 'LOC100130612', 'score': 550.77}, {'connected_gene': 'PBK', 'score': 550.77}, {'connected_gene': 'CCDC25', 'score': 15.73}, {'connected_gene': 'ESCO2', 'score': 14.86}, {'connected_gene': 'RNU6-1276P', 'score': 0.21}]
chr8	GH08I027731	27731320	27737883	0.43	[{'connected_gene': 'ENSG00000253875', 'score': 550.77}, {'connected_gene': 'CCDC25', 'score': 33.22}, {'connected_gene': 'ESCO2', 'score': 21.23}, {'connected_gene': 'RNU6-1276P', 'score': 11.19}, {'connected_gene': 'CLU', 'score': 10.81}, {'connected_gene': 'SCARA3', 'score': 7.04}]
chr8	GH08I027748	27748604	27748713	0.2	[{'connected_gene': 'ENSG00000253875', 'score': 0.37}, {'connected_gene': 'CCDC25', 'score': 0.34}, {'connected_gene': 'ESCO2', 'score': 0.34}]
chr8	GH08I027750	27750424	27750653	0.85	[{'connected_gene': 'ENSG00000253875', 'score': 0.37}, {'connected_gene': 'CCDC25', 'score': 0.34}, {'connected_gene': 'ESCO2', 'score': 0.34}]