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
ENST00000461531	[[74648804, 74648943], [74649996, 74650059], [74650317, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652601]]	None
ENST00000409791	[[74648855, 74648943], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652766, 74652881]]	[[74648877, 74648943], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652766, 74652784]]
ENST00000475328	[[74648856, 74648943], [74649279, 74649737]]	None
ENST00000469932	[[74648856, 74648943], [74649279, 74649502], [74649996, 74650238]]	None
ENST00000493982	[[74648856, 74648943], [74649279, 74649502], [74649996, 74650059], [74650445, 74650635]]	None
ENST00000426787	[[74648856, 74648943], [74649279, 74649502], [74649996, 74650059], [74650445, 74650512], [74650981, 74651117]]	[[74649280, 74649502], [74649996, 74650059], [74650445, 74650512], [74650981, 74651117]]
ENST00000348227	[[74648856, 74648943], [74649279, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	[[74649280, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652828]]
ENST00000465134	[[74648870, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	None
ENST00000480089	[[74648885, 74648943], [74649246, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652777]]	None
ENST00000482880	[[74648890, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652103]]	None
ENST00000468778	[[74648892, 74650059], [74650445, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	None
ENST00000469321	[[74649301, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652223, 74652364], [74652543, 74652618], [74652696, 74652831]]	None
ENST00000482605	[[74651999, 74652364], [74652543, 74652618], [74652696, 74652882]]	None
NM_001320823	[[74648849, 74648921], [74649279, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	[[74648877, 74648921], [74649279, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652828]]
NM_001320825	[[74648849, 74648943], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652766, 74652882]]	[[74648877, 74648943], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652766, 74652784]]
NM_032118	[[74648849, 74648943], [74649279, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	[[74649280, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652828]]
NM_001320824	[[74648849, 74648943], [74649246, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652882]]	[[74649280, 74649502], [74649996, 74650059], [74650445, 74650512], [74650604, 74650658], [74650981, 74651109], [74652001, 74652102], [74652201, 74652364], [74652543, 74652618], [74652696, 74652828]]

Promoter

Chrom	Start	End	Description
chr2	74648832	74648841	CAGE_peak_3_at_WDR54_5end
chr2	74648848	74648894	CAGE_peak_1_at_WDR54_5end
chr2	74649337	74649349	CAGE_peak_2_at_WDR54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I074420	74420057	74428198	2.44	[{'connected_gene': 'WDR54', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 20.38}, {'connected_gene': 'LBX2', 'score': 13.94}, {'connected_gene': 'LBX2-AS1', 'score': 13.85}, {'connected_gene': 'C2orf81', 'score': 3.19}, {'connected_gene': 'SLC4A5', 'score': 1.83}, {'connected_gene': 'DCTN1', 'score': 1.76}, {'connected_gene': 'ENSG00000159239', 'score': 0.77}, {'connected_gene': 'GC02M074419', 'score': 0.77}, {'connected_gene': 'PIR40772', 'score': 0.77}, {'connected_gene': 'RTKN', 'score': 0.37}]
chr2	GH02I074328	74328199	74328258	0.73	[{'connected_gene': 'SLC4A5', 'score': 550.37}, {'connected_gene': 'RTKN', 'score': 10.26}, {'connected_gene': 'C2orf81', 'score': 9.67}, {'connected_gene': 'WDR54', 'score': 9.67}, {'connected_gene': 'ENSG00000159239', 'score': 9.67}, {'connected_gene': 'RNU6-542P', 'score': 0.44}, {'connected_gene': 'ENSG00000264324', 'score': 0.28}]
chr2	GH02I074266	74266714	74267895	0.84	[{'connected_gene': 'SLC4A5', 'score': 10.91}, {'connected_gene': 'C2orf81', 'score': 9.96}, {'connected_gene': 'WDR54', 'score': 9.96}, {'connected_gene': 'ENSG00000159239', 'score': 9.96}, {'connected_gene': 'RTKN', 'score': 9.95}, {'connected_gene': 'KRT18P26', 'score': 0.26}, {'connected_gene': 'GC02P074217', 'score': 0.23}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2	GH02I074261	74261634	74261783	0.69	[{'connected_gene': 'SLC4A5', 'score': 10.36}, {'connected_gene': 'C2orf81', 'score': 9.68}, {'connected_gene': 'WDR54', 'score': 9.68}, {'connected_gene': 'ENSG00000159239', 'score': 9.68}, {'connected_gene': 'RTKN', 'score': 9.67}, {'connected_gene': 'KRT18P26', 'score': 0.25}, {'connected_gene': 'GC02P074217', 'score': 0.25}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2	GH02I074250	74250214	74250363	0.6	[{'connected_gene': 'SLC4A5', 'score': 10.59}, {'connected_gene': 'BOLA3', 'score': 10.5}, {'connected_gene': 'BOLA3-AS1', 'score': 10.5}, {'connected_gene': 'C2orf81', 'score': 9.87}, {'connected_gene': 'WDR54', 'score': 9.87}, {'connected_gene': 'ENSG00000159239', 'score': 9.87}, {'connected_gene': 'RTKN', 'score': 9.86}, {'connected_gene': 'GC02P074217', 'score': 0.29}, {'connected_gene': 'KRT18P26', 'score': 0.22}, {'connected_gene': 'ENSG00000264324', 'score': 0.14}]
chr2	GH02I074397	74397103	74397183	0.22	[{'connected_gene': 'C2orf81', 'score': 11.32}, {'connected_gene': 'WDR54', 'score': 11.32}, {'connected_gene': 'ENSG00000159239', 'score': 11.32}, {'connected_gene': 'RTKN', 'score': 11.23}, {'connected_gene': 'BOLA3', 'score': 9.11}, {'connected_gene': 'BOLA3-AS1', 'score': 9.11}, {'connected_gene': 'DCTN1', 'score': 0.44}, {'connected_gene': 'ENSG00000234521', 'score': 0.37}]
chr2	GH02I074421	74419801	74420000	0.38	[{'connected_gene': 'C2orf81', 'score': 550.77}, {'connected_gene': 'WDR54', 'score': 550.77}, {'connected_gene': 'ENSG00000159239', 'score': 550.77}, {'connected_gene': 'PIR40772', 'score': 550.77}, {'connected_gene': 'GC02M074419', 'score': 550.77}, {'connected_gene': 'HMGA1P8', 'score': 550.77}]
chr2	GH02I074219	74219529	74219927	0.47	[{'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'SLC4A5', 'score': 10.16}, {'connected_gene': 'C2orf81', 'score': 9.56}, {'connected_gene': 'WDR54', 'score': 9.56}, {'connected_gene': 'ENSG00000159239', 'score': 9.56}, {'connected_gene': 'RTKN', 'score': 9.55}, {'connected_gene': 'GC02P074217', 'score': 0.77}, {'connected_gene': 'KRT18P26', 'score': 0.17}, {'connected_gene': 'ENSG00000264324', 'score': 0.11}]
chr2	GH02I074575	74575378	74578799	1.4	[{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2	GH02I074653	74653601	74654801	1.95	[{'connected_gene': 'SEMA4F', 'score': 562.59}, {'connected_gene': 'GC02P074655', 'score': 550.77}, {'connected_gene': 'DCTN1', 'score': 11.84}, {'connected_gene': 'WDR54', 'score': 10.1}]
chr2	GH02I075320	75320775	75321654	0.2	[{'connected_gene': 'GC02P075321', 'score': 550.77}, {'connected_gene': 'WDR54', 'score': 4.63}, {'connected_gene': 'GC02P075206', 'score': 0.13}]
chr2	GH02I074363	74363777	74366698	0.31	[{'connected_gene': 'ENSG00000264324', 'score': 550.77}, {'connected_gene': 'SLC4A5', 'score': 11.47}, {'connected_gene': 'RTKN', 'score': 10.35}, {'connected_gene': 'C2orf81', 'score': 10.34}, {'connected_gene': 'WDR54', 'score': 10.34}, {'connected_gene': 'ENSG00000159239', 'score': 10.34}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074371', 'score': 0.39}, {'connected_gene': 'DCTN1', 'score': 0.31}]
chr2	GH02I074334	74334974	74335103	0.72	[{'connected_gene': 'ENSG00000272183', 'score': 12.17}, {'connected_gene': 'C2orf81', 'score': 10.42}, {'connected_gene': 'WDR54', 'score': 10.42}, {'connected_gene': 'ENSG00000159239', 'score': 10.42}, {'connected_gene': 'RTKN', 'score': 10.4}, {'connected_gene': 'SLC4A5', 'score': 0.44}, {'connected_gene': 'RNU6-542P', 'score': 0.37}, {'connected_gene': 'ENSG00000264324', 'score': 0.31}]
chr2	GH02I074452	74452099	74453703	0.52	[{'connected_gene': 'GC02M074442', 'score': 550.77}, {'connected_gene': 'GC02M074444', 'score': 550.77}, {'connected_gene': 'C2orf81', 'score': 11.79}, {'connected_gene': 'WDR54', 'score': 11.79}, {'connected_gene': 'ENSG00000159239', 'score': 11.79}, {'connected_gene': 'RTKN', 'score': 0.39}]
chr2	GH02I074372	74372730	74375248	1.62	[{'connected_gene': 'GC02M074371', 'score': 550.77}, {'connected_gene': 'DCTN1', 'score': 550.37}, {'connected_gene': 'SLC4A5', 'score': 11.28}, {'connected_gene': 'C2orf81', 'score': 10.67}, {'connected_gene': 'WDR54', 'score': 10.67}, {'connected_gene': 'ENSG00000159239', 'score': 10.67}, {'connected_gene': 'RTKN', 'score': 10.63}, {'connected_gene': 'BOLA3', 'score': 9.91}, {'connected_gene': 'BOLA3-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272183', 'score': 7.63}, {'connected_gene': 'MOGS', 'score': 5.04}, {'connected_gene': 'ENSG00000264324', 'score': 0.39}]
chr2	GH02I074196	74196814	74200680	2.11	[{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]