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
ENST00000353796	[[5085451, 5085589], [5085885, 5086027], [5087663, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5106888]]	[[5087707, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5105232]]
ENST00000396912	[[5085552, 5086027], [5087663, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5109119]]	[[5087707, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5105232]]
ENST00000476992	[[5096617, 5097052], [5097314, 5097410], [5103325, 5103506]]	None
NM_001204456	[[5085451, 5085589], [5085885, 5086027], [5087663, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5109119]]	[[5087707, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5105232]]
NM_021163	[[5085552, 5086027], [5087663, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5109119]]	[[5087707, 5087722], [5096925, 5097052], [5097314, 5097410], [5103325, 5105232]]

Promoter

Chrom	Start	End	Description
chr7	5085480	5085510	CAGE_peak_1_at_RBAK_5end
chr7	5111723	5111807	CAGE_peak_2_at_RBAK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I004774	4774110	4777213	2.07	[{'connected_gene': 'AP5Z1', 'score': 571.4}, {'connected_gene': 'RBAK', 'score': 18.73}, {'connected_gene': 'RNF216P1', 'score': 13.13}, {'connected_gene': 'TNRC18', 'score': 11.56}, {'connected_gene': 'RADIL', 'score': 11.05}, {'connected_gene': 'GC07P004785', 'score': 0.39}]
chr7	GH07I004619	4619728	4622113	1.11	[{'connected_gene': 'AP5Z1', 'score': 46.85}, {'connected_gene': 'RBAK', 'score': 25.64}, {'connected_gene': 'RNF216P1', 'score': 24.94}, {'connected_gene': 'TNRC18', 'score': 14.3}, {'connected_gene': 'GC07P004617', 'score': 0.44}, {'connected_gene': 'FOXK1', 'score': 0.34}]
chr7	GH07I005416	5416449	5431512	2.66	[{'connected_gene': 'TNRC18', 'score': 561.94}, {'connected_gene': 'ENSG00000272953', 'score': 550.77}, {'connected_gene': 'GC07P005425', 'score': 550.77}, {'connected_gene': 'USP42', 'score': 28.92}, {'connected_gene': 'ANKRD61', 'score': 24.76}, {'connected_gene': 'RNF216P1', 'score': 19.31}, {'connected_gene': 'RBAK', 'score': 19.13}, {'connected_gene': 'AP5Z1', 'score': 13.96}, {'connected_gene': 'RNF216', 'score': 9.87}, {'connected_gene': 'FBXL18', 'score': 1.35}, {'connected_gene': 'ENSG00000241269', 'score': 0.77}, {'connected_gene': 'ENSG00000188365', 'score': 0.77}, {'connected_gene': 'ENSG00000273084', 'score': 0.77}, {'connected_gene': 'LOC100129484', 'score': 0.44}]
chr7	GH07I005687	5687202	5702250	1.65	[{'connected_gene': 'USP42', 'score': 22.7}, {'connected_gene': 'RNF216P1', 'score': 19.36}, {'connected_gene': 'C7orf26', 'score': 14.82}, {'connected_gene': 'ACTB', 'score': 13.7}, {'connected_gene': 'ZNF316', 'score': 12.72}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'FBXL18', 'score': 12.41}, {'connected_gene': 'MIR589', 'score': 12.4}, {'connected_gene': 'FSCN1', 'score': 12.22}, {'connected_gene': 'ENSG00000188365', 'score': 12.2}, {'connected_gene': 'RNF216', 'score': 11.91}, {'connected_gene': 'AP5Z1', 'score': 11.1}, {'connected_gene': 'TNRC18', 'score': 10.77}, {'connected_gene': 'ENSG00000241269', 'score': 10.18}, {'connected_gene': 'WIPI2', 'score': 5.51}, {'connected_gene': 'CCZ1', 'score': 2.17}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'MIR6874', 'score': 0.37}]
chr7	GH07I005548	5548539	5551077	1.31	[{'connected_gene': 'USP42', 'score': 13.7}, {'connected_gene': 'ANKRD61', 'score': 12.07}, {'connected_gene': 'RBAK', 'score': 10.11}, {'connected_gene': 'ENSG00000272719', 'score': 0.44}, {'connected_gene': 'ACTB', 'score': 0.39}, {'connected_gene': 'GC07M005530', 'score': 0.34}, {'connected_gene': 'GC07M005529', 'score': 0.34}]
chr7	GH07I005512	5512353	5515537	2.06	[{'connected_gene': 'FBXL18', 'score': 558.49}, {'connected_gene': 'LOC221946', 'score': 550.77}, {'connected_gene': 'AP5Z1', 'score': 20.43}, {'connected_gene': 'USP42', 'score': 13.7}, {'connected_gene': 'TNRC18', 'score': 13.63}, {'connected_gene': 'ANKRD61', 'score': 12.06}, {'connected_gene': 'RBAK', 'score': 10.13}, {'connected_gene': 'KDELR2', 'score': 9.79}, {'connected_gene': 'PIR61399', 'score': 0.39}, {'connected_gene': 'GC07M005528', 'score': 0.39}, {'connected_gene': 'GC07P005444', 'score': 0.2}]
chr7	GH07I005523	5523930	5535065	2.6	[{'connected_gene': 'ACTB', 'score': 551.9}, {'connected_gene': 'PIR61399', 'score': 550.77}, {'connected_gene': 'GC07M005528', 'score': 550.77}, {'connected_gene': 'GC07M005529', 'score': 550.77}, {'connected_gene': 'GC07M005530', 'score': 550.77}, {'connected_gene': 'ANKRD61', 'score': 39.53}, {'connected_gene': 'USP42', 'score': 38.67}, {'connected_gene': 'AP5Z1', 'score': 38.25}, {'connected_gene': 'CCZ1', 'score': 26.59}, {'connected_gene': 'TNRC18', 'score': 25.31}, {'connected_gene': 'RBAK', 'score': 20.4}, {'connected_gene': 'RNF216', 'score': 20.33}, {'connected_gene': 'FBXL18', 'score': 6.35}, {'connected_gene': 'WIPI2', 'score': 1.99}, {'connected_gene': 'LOC221946', 'score': 0.37}]
chr7	GH07I005591	5591150	5599755	2.61	[{'connected_gene': 'FSCN1', 'score': 553.49}, {'connected_gene': 'C7orf26', 'score': 43.81}, {'connected_gene': 'AP5Z1', 'score': 30.14}, {'connected_gene': 'USP42', 'score': 25.61}, {'connected_gene': 'TNRC18', 'score': 22.86}, {'connected_gene': 'ANKRD61', 'score': 14.54}, {'connected_gene': 'CCZ1', 'score': 13.03}, {'connected_gene': 'RNF216P1', 'score': 9.97}, {'connected_gene': 'RBAK', 'score': 9.93}, {'connected_gene': 'RNF216', 'score': 9.9}, {'connected_gene': 'ACTB', 'score': 2.73}, {'connected_gene': 'FBXL18', 'score': 1.62}, {'connected_gene': 'AIMP2', 'score': 1.34}, {'connected_gene': 'RNF216-IT1', 'score': 0.17}]
chr7	GH07I005045	5045196	5047001	1.98	[{'connected_gene': 'RBAK', 'score': 550.77}, {'connected_gene': 'RNF216P1', 'score': 15.34}, {'connected_gene': 'ANKRD61', 'score': 14.52}, {'connected_gene': 'AP5Z1', 'score': 13.99}, {'connected_gene': 'TNRC18', 'score': 11.2}, {'connected_gene': 'RNF216', 'score': 9.84}, {'connected_gene': 'RBAKDN', 'score': 0.31}, {'connected_gene': 'RBAK-RBAKDN', 'score': 0.21}]
chr7	GH07I005437	5437377	5440600	0.72	[{'connected_gene': 'RBAK', 'score': 12.59}, {'connected_gene': 'LOC100129484', 'score': 0.44}, {'connected_gene': 'GC07P005444', 'score': 0.44}, {'connected_gene': 'FBXL18', 'score': 0.19}]
chr7	GH07I005349	5349688	5351222	0.46	[{'connected_gene': 'RNF216P1', 'score': 15.55}, {'connected_gene': 'TNRC18', 'score': 11.81}, {'connected_gene': 'LOC100129484', 'score': 11.79}, {'connected_gene': 'FBXL18', 'score': 11.36}, {'connected_gene': 'ACTB', 'score': 11.34}, {'connected_gene': 'USP42', 'score': 10.6}, {'connected_gene': 'RBAK', 'score': 10.46}, {'connected_gene': 'GC07M005356', 'score': 0.44}, {'connected_gene': 'PIR50038', 'score': 0.44}, {'connected_gene': 'GC07P005335', 'score': 0.39}]
chr7	GH07I005772	5772401	5775343	1.06	[{'connected_gene': 'RNF216P1', 'score': 19.3}, {'connected_gene': 'ZNF12', 'score': 13.47}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'USP42', 'score': 10.35}, {'connected_gene': 'FSCN1', 'score': 9.79}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'RNF216', 'score': 7.84}, {'connected_gene': 'PIR40049', 'score': 0.34}]
chr7	GH07I004681	4681383	4685761	2.24	[{'connected_gene': 'FOXK1', 'score': 561.27}, {'connected_gene': 'TNRC18', 'score': 44.82}, {'connected_gene': 'RBAK', 'score': 43.77}, {'connected_gene': 'RNF216P1', 'score': 32.08}, {'connected_gene': 'AP5Z1', 'score': 12.69}, {'connected_gene': 'ENSG00000188365', 'score': 12.25}, {'connected_gene': 'FSCN1', 'score': 9.72}, {'connected_gene': 'WIPI2', 'score': 9.72}, {'connected_gene': 'SNORD13P2', 'score': 0.44}, {'connected_gene': 'GC07M004681', 'score': 0.29}]
chr7	GH07I006014	6014845	6017941	1.12	[{'connected_gene': 'SNORA80D', 'score': 550.77}, {'connected_gene': 'EIF2AK1', 'score': 25.21}, {'connected_gene': 'ZNF12', 'score': 23.98}, {'connected_gene': 'RBAK', 'score': 18.7}, {'connected_gene': 'PMS2', 'score': 18.34}, {'connected_gene': 'C7orf26', 'score': 11.97}, {'connected_gene': 'TNRC18', 'score': 11.56}, {'connected_gene': 'ZNF316', 'score': 11.17}, {'connected_gene': 'USP42', 'score': 11.02}, {'connected_gene': 'PMS2CL', 'score': 10.67}, {'connected_gene': 'ENSG00000198580', 'score': 9.7}, {'connected_gene': 'CCZ1', 'score': 6.73}, {'connected_gene': 'RSPH10B', 'score': 5.72}, {'connected_gene': 'ZDHHC4', 'score': 4.65}, {'connected_gene': 'AIMP2', 'score': 0.44}]