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
ENST00000280357	[[112013973, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025784], [112034628, 112034840]]	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025776]]
ENST00000524595	[[112013975, 112014540], [112019325, 112019459], [112020794, 112020929], [112025697, 112025784], [112034628, 112034797]]	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112025697, 112025776]]
ENST00000525547	[[112013979, 112014540], [112019325, 112019459], [112020794, 112021796]]	None
ENST00000528832	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025805], [112034628, 112034812]]	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025776]]
ENST00000533858	[[112014405, 112014540], [112019325, 112019459], [112020794, 112020929], [112021719, 112021795], [112025697, 112025784], [112034628, 112034819]]	None
ENST00000534225	[[112023721, 112024326], [112025697, 112025784], [112034628, 112034816]]	None
NM_001562	[[112013973, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025784], [112034628, 112034840]]	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112024314, 112024326], [112025697, 112025776]]
NM_001243211	[[112013973, 112014540], [112019325, 112019459], [112020794, 112020929], [112025697, 112025784], [112034628, 112034840]]	[[112014318, 112014540], [112019325, 112019459], [112020794, 112020929], [112025697, 112025776]]

Promoter

Chrom	Start	End	Description
chr11	112034761	112034772	CAGE_peak_4_at_IL18_5end
chr11	112034780	112034795	CAGE_peak_3_at_IL18_5end
chr11	112034803	112034824	CAGE_peak_1_at_IL18_5end
chr11	112034831	112034848	CAGE_peak_2_at_IL18_5end
chr11	112035029	112035045	CAGE_peak_7_at_IL18_5end
chr11	112035098	112035114	CAGE_peak_6_at_IL18_5end
chr11	112035117	112035142	CAGE_peak_5_at_IL18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I111934	111934176	111945953	2.7	[{'connected_gene': 'DIXDC1', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.64}, {'connected_gene': 'SDHD', 'score': 16.26}, {'connected_gene': 'C11orf52', 'score': 11.14}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.07}, {'connected_gene': 'HSPB2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.66}, {'connected_gene': 'C11orf1', 'score': 10.64}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.42}, {'connected_gene': 'PIH1D2', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 4.51}, {'connected_gene': 'IL18', 'score': 1.2}, {'connected_gene': 'ENSG00000255286', 'score': 0.44}, {'connected_gene': 'RNA5SP351', 'score': 0.39}]
chr11	GH11I112128	112128006	112130158	0.86	[{'connected_gene': 'BCO2', 'score': 28.11}, {'connected_gene': 'IL18', 'score': 11.38}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.33}, {'connected_gene': 'ENSG00000254638', 'score': 11.08}, {'connected_gene': 'SDHD', 'score': 11.08}, {'connected_gene': 'TIMM8B', 'score': 11.08}, {'connected_gene': 'NKAPD1', 'score': 10.48}, {'connected_gene': 'PIH1D2', 'score': 10.48}, {'connected_gene': 'CRYAB', 'score': 9.28}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.27}, {'connected_gene': 'HSPB2', 'score': 9.27}, {'connected_gene': 'C11orf52', 'score': 9.27}, {'connected_gene': 'DIXDC1', 'score': 8.86}]
chr11	GH11I112113	112113401	112113800	0.94	[{'connected_gene': 'ALG9', 'score': 15.31}, {'connected_gene': 'NKAPD1', 'score': 14.43}, {'connected_gene': 'PIH1D2', 'score': 10.1}, {'connected_gene': 'LOC101928847', 'score': 9.72}, {'connected_gene': 'SDHD', 'score': 0.31}, {'connected_gene': 'ENSG00000255292', 'score': 0.31}, {'connected_gene': 'IL18', 'score': 0.23}]
chr11	GH11I112145	112145884	112146056	0.34	[{'connected_gene': 'TEX12', 'score': 11.05}, {'connected_gene': 'BCO2', 'score': 10.94}, {'connected_gene': 'ENSG00000254638', 'score': 10.94}, {'connected_gene': 'ENSG00000255292', 'score': 10.93}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'DIXDC1', 'score': 1.52}, {'connected_gene': 'IL18', 'score': 0.37}]
chr11	GH11I112167	112167323	112167382	0.73	[{'connected_gene': 'TEX12', 'score': 550.77}, {'connected_gene': 'BCO2', 'score': 18.57}, {'connected_gene': 'IL18', 'score': 0.77}, {'connected_gene': 'ENSG00000254638', 'score': 0.44}, {'connected_gene': 'ENSG00000255292', 'score': 0.18}]
chr11	GH11I112099	112099966	112101346	0.43	[{'connected_gene': 'NKAPD1', 'score': 11.59}, {'connected_gene': 'PIH1D2', 'score': 11.59}, {'connected_gene': 'TEX12', 'score': 10.33}, {'connected_gene': 'DIXDC1', 'score': 9.6}, {'connected_gene': 'CRYAB', 'score': 9.43}, {'connected_gene': 'C11orf52', 'score': 9.43}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.28}, {'connected_gene': 'HSPB2', 'score': 9.28}, {'connected_gene': 'SDHD', 'score': 4.4}, {'connected_gene': 'PPP2R1B', 'score': 4.37}, {'connected_gene': 'ENSG00000255292', 'score': 0.39}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11	GH11I112103	112103201	112104000	0.2	[{'connected_gene': 'PPP2R1B', 'score': 12.61}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'TEX12', 'score': 9.96}, {'connected_gene': 'CRYAB', 'score': 9.95}, {'connected_gene': 'C11orf52', 'score': 9.94}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.93}, {'connected_gene': 'HSPB2', 'score': 9.93}, {'connected_gene': 'ENSG00000255292', 'score': 0.37}, {'connected_gene': 'SDHD', 'score': 0.37}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11	GH11I112155	112155817	112167267	2.43	[{'connected_gene': 'IL18', 'score': 576.69}, {'connected_gene': 'BCO2', 'score': 26.06}, {'connected_gene': 'SDHD', 'score': 10.8}, {'connected_gene': 'ENSG00000255292', 'score': 10.8}, {'connected_gene': 'TIMM8B', 'score': 10.8}, {'connected_gene': 'C11orf88', 'score': 5.0}, {'connected_gene': 'ENSG00000254638', 'score': 0.39}]
chr11	GH11I112119	112119321	112122420	1.15	[{'connected_gene': 'IL18', 'score': 20.32}, {'connected_gene': 'ENSG00000255292', 'score': 11.48}, {'connected_gene': 'SDHD', 'score': 11.48}, {'connected_gene': 'TIMM8B', 'score': 11.48}, {'connected_gene': 'TEX12', 'score': 11.27}, {'connected_gene': 'BCO2', 'score': 6.77}, {'connected_gene': 'LOC101928847', 'score': 4.8}, {'connected_gene': 'ALG9', 'score': 4.67}]
chr11	GH11I112131	112131224	112132498	0.43	[{'connected_gene': 'IL18', 'score': 11.39}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.32}, {'connected_gene': 'BCO2', 'score': 10.92}, {'connected_gene': 'ENSG00000254638', 'score': 10.92}]
chr11	GH11I112523	112523078	112526990	1.06	[{'connected_gene': 'LOC283140', 'score': 17.81}, {'connected_gene': 'RNU6-44P', 'score': 10.41}, {'connected_gene': 'KCTD9P4', 'score': 4.28}, {'connected_gene': 'IL18', 'score': 1.28}, {'connected_gene': 'LOC387810', 'score': 0.29}, {'connected_gene': 'RPL23AP62', 'score': 0.21}, {'connected_gene': 'LOC101928823', 'score': 0.12}]
chr11	GH11I112023	112023864	112026400	2.09	[{'connected_gene': 'DLAT', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.77}, {'connected_gene': 'FDXACB1', 'score': 12.73}, {'connected_gene': 'ALG9', 'score': 11.96}, {'connected_gene': 'NKAPD1', 'score': 11.31}, {'connected_gene': 'PIH1D2', 'score': 11.31}, {'connected_gene': 'DIXDC1', 'score': 11.01}, {'connected_gene': 'IL18', 'score': 10.97}, {'connected_gene': 'CRYAB', 'score': 10.46}, {'connected_gene': 'C11orf52', 'score': 10.46}, {'connected_gene': 'GC11M112030', 'score': 0.44}]
chr11	GH11I112316	112316840	112319372	1.4	[{'connected_gene': 'RNU6-44P', 'score': 11.25}, {'connected_gene': 'LOC283140', 'score': 10.59}, {'connected_gene': 'IL18', 'score': 1.47}, {'connected_gene': 'GC11P112339', 'score': 0.34}, {'connected_gene': 'GC11M112270', 'score': 0.25}]