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
ENST00000566388	[[57481336, 57481490], [57484951, 57485120], [57486712, 57488216]]	None
ENST00000262507	[[57481348, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57495187]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57494536]]
ENST00000565964	[[57481352, 57481490], [57484951, 57485120], [57486712, 57486848], [57492157, 57492262], [57493476, 57493509]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57492157, 57492262], [57493476, 57493509]]
ENST00000562734	[[57481393, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57491052]]	None
ENST00000568790	[[57481393, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57491324]]	None
ENST00000564655	[[57481393, 57481490], [57484939, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57493994]]	[[57481417, 57481490], [57484939, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57493994]]
ENST00000564115	[[57481398, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57492157, 57492262], [57493476, 57493632], [57493962, 57494006]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57492157, 57492203]]
ENST00000567072	[[57481405, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490538], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57495154]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490538], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57494536]]
ENST00000567933	[[57481408, 57481490], [57484951, 57485120], [57486712, 57486848], [57493476, 57493632], [57493962, 57494016], [57494500, 57494785]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57493476, 57493632], [57493962, 57494016], [57494500, 57494536]]
ENST00000562426	[[57481414, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490538], [57490842, 57491314]]	None
ENST00000563166	[[57481471, 57481490], [57484951, 57485120], [57486712, 57486827], [57495083, 57495179]]	[[57481471, 57481490], [57484951, 57485120], [57486712, 57486827], [57495083, 57495089]]
ENST00000563391	[[57481640, 57481749], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492228]]	[[57490445, 57490558], [57490842, 57490927], [57492157, 57492228]]
ENST00000567384	[[57484696, 57485120], [57486712, 57486748]]	None
ENST00000567480	[[57484948, 57485120], [57486712, 57486858], [57490415, 57490659]]	None
ENST00000567576	[[57490314, 57490558], [57490842, 57491301]]	None
ENST00000569980	[[57492036, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57495182]]	None
NM_020312	[[57481336, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57495187]]	[[57481417, 57481490], [57484951, 57485120], [57486712, 57486848], [57490415, 57490558], [57490842, 57490927], [57492157, 57492262], [57493476, 57493632], [57493962, 57494016], [57494500, 57494536]]

Promoter

Chrom	Start	End	Description
chr16	57481353	57481364	CAGE_peak_2_at_COQ9_5end
chr16	57481382	57481420	CAGE_peak_1_at_COQ9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I057617	57617247	57625268	2.16	[{'connected_gene': 'ADGRG1', 'score': 561.9}, {'connected_gene': 'COQ9', 'score': 1.98}, {'connected_gene': 'FAM192A', 'score': 1.74}, {'connected_gene': 'CIAPIN1', 'score': 1.37}, {'connected_gene': 'ENSG00000261633', 'score': 0.39}]
chr16	GH16I057392	57392355	57393447	0.31	[{'connected_gene': 'CX3CL1', 'score': 12.76}, {'connected_gene': 'CCL22', 'score': 12.71}, {'connected_gene': 'PLLP', 'score': 10.64}, {'connected_gene': 'DOK4', 'score': 6.33}, {'connected_gene': 'CIAPIN1', 'score': 5.58}, {'connected_gene': 'COQ9', 'score': 4.93}, {'connected_gene': 'GC16M057389', 'score': 0.77}, {'connected_gene': 'CCL17', 'score': 0.77}]
chr16	GH16I057360	57358801	57359200	0.6	[{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'DOK4', 'score': 7.34}, {'connected_gene': 'COQ9', 'score': 4.95}, {'connected_gene': 'GC16P057369', 'score': 0.44}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16	GH16I057413	57413079	57414118	1.06	[{'connected_gene': 'CCL17', 'score': 550.37}, {'connected_gene': 'PLLP', 'score': 11.77}, {'connected_gene': 'CX3CL1', 'score': 11.55}, {'connected_gene': 'CCL22', 'score': 11.52}, {'connected_gene': 'COQ9', 'score': 5.0}, {'connected_gene': 'GC16P057430', 'score': 0.37}]
chr16	GH16I057446	57446154	57448526	2.07	[{'connected_gene': 'CIAPIN1', 'score': 568.24}, {'connected_gene': 'COQ9', 'score': 550.77}, {'connected_gene': 'ADGRG5', 'score': 10.0}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16	GH16I057482	57482163	57487479	2.22	[{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16	GH16I057477	57477669	57481876	1.93	[{'connected_gene': 'DOK4', 'score': 560.69}, {'connected_gene': 'COQ9', 'score': 14.12}, {'connected_gene': 'CIAPIN1', 'score': 13.58}, {'connected_gene': 'CCDC102A', 'score': 6.63}, {'connected_gene': 'PIR51542', 'score': 0.39}]
chr16	GH16I057506	57506809	57511126	0.8	[{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16	GH16I057297	57297051	57297723	0.43	[{'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.32}, {'connected_gene': 'CIAPIN1', 'score': 10.86}, {'connected_gene': 'COQ9', 'score': 10.86}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'MT1F', 'score': 5.21}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.77}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16	GH16I057814	57814964	57817542	1.22	[{'connected_gene': 'CNGB1', 'score': 10.36}, {'connected_gene': 'LOC388282', 'score': 5.46}, {'connected_gene': 'COQ9', 'score': 4.49}, {'connected_gene': 'GC16M057830', 'score': 0.39}, {'connected_gene': 'RNU6-20P', 'score': 0.39}, {'connected_gene': 'KIFC3', 'score': 0.25}]
chr16	GH16I057299	57297929	57298502	1	[{'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.33}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16	GH16I057298	57298675	57301483	1.52	[{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]