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
ENST00000291442	[[17342691, 17343435], [17346307, 17346874], [17351479, 17351574], [17355751, 17356749]]	[[17343160, 17343435], [17346307, 17346874], [17351479, 17351574], [17355751, 17356029]]
ENST00000596878	[[17346510, 17346874], [17351479, 17351574], [17355041, 17355313]]	[[17346510, 17346874], [17351479, 17351492]]
NM_005234	[[17342693, 17343435], [17346307, 17346874], [17351479, 17351574], [17355751, 17356151]]	[[17343160, 17343435], [17346307, 17346874], [17351479, 17351574], [17355751, 17356029]]

Promoter

Chrom	Start	End	Description
chr19	17356189	17356221	CAGE_peak_2_at_NR2F6_5end
chr19	17356436	17356481	CAGE_peak_3_at_NR2F6_5end
chr19	17356697	17356762	CAGE_peak_1_at_NR2F6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017237	17237616	17238009	0.43	[{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'OCEL1', 'score': 8.69}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19	GH19I017238	17238518	17239045	0.43	[{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'ANKLE1', 'score': 4.81}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'OCEL1', 'score': 0.39}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19	GH19I017336	17336092	17338619	2.35	[{'connected_gene': 'GTPBP3', 'score': 561.72}, {'connected_gene': 'CHERP', 'score': 155.59}, {'connected_gene': 'ENSG00000269578', 'score': 134.62}, {'connected_gene': 'ENSG00000268743', 'score': 85.51}, {'connected_gene': 'IQCN', 'score': 83.91}, {'connected_gene': 'COLGALT1', 'score': 66.83}, {'connected_gene': 'C19orf44', 'score': 66.54}, {'connected_gene': 'SIN3B', 'score': 58.74}, {'connected_gene': 'HAUS8', 'score': 56.73}, {'connected_gene': 'MVB12A', 'score': 46.08}, {'connected_gene': 'ENSG00000268087', 'score': 40.49}, {'connected_gene': 'ENSG00000267904', 'score': 37.5}, {'connected_gene': 'MED26', 'score': 35.43}, {'connected_gene': 'MRPL34', 'score': 23.74}, {'connected_gene': 'PLVAP', 'score': 22.62}, {'connected_gene': 'ENSG00000269044', 'score': 21.23}, {'connected_gene': 'ABHD8', 'score': 20.88}, {'connected_gene': 'SMIM7', 'score': 20.23}, {'connected_gene': 'BST2', 'score': 11.56}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'ENSG00000269815', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'JUND', 'score': 10.39}, {'connected_gene': 'ANKLE1', 'score': 6.64}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19	GH19I017172	17172957	17173948	0.72	[{'connected_gene': 'OCEL1', 'score': 18.51}, {'connected_gene': 'USE1', 'score': 13.17}, {'connected_gene': 'NR2F6', 'score': 11.94}, {'connected_gene': 'CPAMD8', 'score': 10.88}, {'connected_gene': 'ENSG00000269836', 'score': 0.44}, {'connected_gene': 'ENSG00000268056', 'score': 0.44}, {'connected_gene': 'MYO9B', 'score': 0.15}]
chr19	GH19I017234	17234277	17237438	1.61	[{'connected_gene': 'OCEL1', 'score': 11.99}, {'connected_gene': 'NR2F6', 'score': 11.52}, {'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'GTPBP3', 'score': 7.62}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19	GH19I017219	17219572	17220945	1.22	[{'connected_gene': 'OCEL1', 'score': 20.17}, {'connected_gene': 'NR2F6', 'score': 5.97}, {'connected_gene': 'USE1', 'score': 0.77}]
chr19	GH19I017338	17338772	17339186	0.74	[{'connected_gene': 'MRPL34', 'score': 15.46}, {'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'GTPBP3', 'score': 0.77}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19	GH19I017159	17159324	17160415	0.93	[{'connected_gene': 'MYO9B', 'score': 12.14}, {'connected_gene': 'NR2F6', 'score': 11.5}, {'connected_gene': 'CPAMD8', 'score': 10.93}, {'connected_gene': 'ENSG00000268056', 'score': 0.44}, {'connected_gene': 'GC19M017123', 'score': 0.29}]
chr19	GH19I016312	16312795	16313754	1.09	[{'connected_gene': 'NR2F6', 'score': 5.26}, {'connected_gene': 'C19orf44', 'score': 4.69}, {'connected_gene': 'ENSG00000267275', 'score': 0.39}, {'connected_gene': 'PIR54763', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19	GH19I017170	17170791	17171000	0.63	[{'connected_gene': 'NR2F6', 'score': 11.93}, {'connected_gene': 'CPAMD8', 'score': 10.88}, {'connected_gene': 'ENSG00000268056', 'score': 0.77}, {'connected_gene': 'ENSG00000269836', 'score': 0.44}, {'connected_gene': 'MYO9B', 'score': 0.15}]
chr19	GH19I017239	17239839	17250193	2.3	[{'connected_gene': 'NR2F6', 'score': 568.47}, {'connected_gene': 'GC19M017243', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 26.13}, {'connected_gene': 'ENSG00000267904', 'score': 25.16}, {'connected_gene': 'MVB12A', 'score': 22.31}, {'connected_gene': 'GTPBP3', 'score': 19.74}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268087', 'score': 14.7}, {'connected_gene': 'OCEL1', 'score': 14.69}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000269578', 'score': 11.19}, {'connected_gene': 'FCHO1', 'score': 10.66}, {'connected_gene': 'BST2', 'score': 10.58}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'BABAM1', 'score': 8.33}, {'connected_gene': 'ABHD8', 'score': 8.18}, {'connected_gene': 'MRPL34', 'score': 7.11}, {'connected_gene': 'ANKLE1', 'score': 5.4}, {'connected_gene': 'ENSG00000269427', 'score': 5.04}, {'connected_gene': 'UNC13A', 'score': 4.42}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}, {'connected_gene': 'USHBP1', 'score': 0.28}]
chr19	GH19I016319	16319227	16319996	0.38	[{'connected_gene': 'NR2F6', 'score': 5.26}, {'connected_gene': 'ENSG00000267275', 'score': 0.77}, {'connected_gene': 'PIR54763', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19	GH19I016323	16323468	16332536	2.48	[{'connected_gene': 'KLF2', 'score': 558.7}, {'connected_gene': 'C19orf44', 'score': 13.83}, {'connected_gene': 'SIN3B', 'score': 12.26}, {'connected_gene': 'CHERP', 'score': 10.35}, {'connected_gene': 'ENSG00000269578', 'score': 9.92}, {'connected_gene': 'ENSG00000268743', 'score': 9.89}, {'connected_gene': 'EPS15L1', 'score': 9.85}, {'connected_gene': 'MED26', 'score': 7.86}, {'connected_gene': 'TMEM38A', 'score': 4.91}, {'connected_gene': 'NR2F6', 'score': 4.9}, {'connected_gene': 'RAB8A', 'score': 4.67}, {'connected_gene': 'HSH2D', 'score': 2.89}, {'connected_gene': 'ENSG00000267275', 'score': 0.77}, {'connected_gene': 'ENSG00000277825', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19	GH19I017254	17254936	17255754	1.02	[{'connected_gene': 'ENSG00000269095', 'score': 550.77}, {'connected_gene': 'MVB12A', 'score': 11.47}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'BST2', 'score': 10.44}, {'connected_gene': 'GTPBP3', 'score': 8.74}, {'connected_gene': 'ABHD8', 'score': 8.42}, {'connected_gene': 'NR2F6', 'score': 6.74}, {'connected_gene': 'GC19P020254', 'score': 0.77}, {'connected_gene': 'USHBP1', 'score': 0.31}]
chr19	GH19I016314	16314839	16318094	1.38	[{'connected_gene': 'ENSG00000268189', 'score': 11.98}, {'connected_gene': 'NR2F6', 'score': 5.25}, {'connected_gene': 'C19orf44', 'score': 4.42}, {'connected_gene': 'ENSG00000267275', 'score': 0.44}, {'connected_gene': 'PIR54763', 'score': 0.34}, {'connected_gene': 'GC19M016221', 'score': 0.06}]