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
ENST00000602198	[[43905647, 43905713], [43906917, 43907011], [43910374, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922749]]	[[43910656, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922549]]
ENST00000253435	[[43910656, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922763]]	[[43910656, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922549]]
ENST00000601707	[[43919039, 43919104], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922749]]	None
ENST00000598265	[[43919063, 43919190], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922745]]	[[43920071, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922549]]
NM_031451	[[43892762, 43892881], [43905647, 43905713], [43906917, 43907011], [43910374, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922767]]	[[43910656, 43910671], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922549]]
NM_001130011	[[43919034, 43919190], [43920032, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922767]]	[[43920071, 43920135], [43920250, 43920394], [43920524, 43920707], [43922029, 43922158], [43922319, 43922549]]

Promoter

Chrom	Start	End	Description
chr19	43919026	43919050	CAGE_peak_2_at_TEX101_5end
chr19	43919058	43919074	CAGE_peak_3_at_TEX101_5end
chr19	43919080	43919083	CAGE_peak_5_at_TEX101_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I043414	43414842	43414901	0.68	[{'connected_gene': 'TEX101', 'score': 550.31}, {'connected_gene': 'GC19M043399', 'score': 0.44}]
chr19	GH19I043406	43406106	43406165	0.5	[{'connected_gene': 'TEX101', 'score': 550.37}, {'connected_gene': 'GC19M043399', 'score': 0.37}]
chr19	GH19I043673	43673367	43676333	1.64	[{'connected_gene': 'ZNF225', 'score': 64.09}, {'connected_gene': 'ZNF283', 'score': 60.31}, {'connected_gene': 'ZNF45', 'score': 53.37}, {'connected_gene': 'PLAUR', 'score': 50.48}, {'connected_gene': 'ZNF180', 'score': 48.55}, {'connected_gene': 'ZNF226', 'score': 45.83}, {'connected_gene': 'ZNF112', 'score': 44.09}, {'connected_gene': 'ZNF234', 'score': 42.48}, {'connected_gene': 'ZNF223', 'score': 42.26}, {'connected_gene': 'ZNF224', 'score': 35.46}, {'connected_gene': 'ZNF221', 'score': 34.67}, {'connected_gene': 'ZNF235', 'score': 30.73}, {'connected_gene': 'ZNF227', 'score': 30.03}, {'connected_gene': 'ZNF284', 'score': 28.81}, {'connected_gene': 'ZNF576', 'score': 28.58}, {'connected_gene': 'LOC100505715', 'score': 26.58}, {'connected_gene': 'MRPS15P2', 'score': 25.85}, {'connected_gene': 'IRGQ', 'score': 25.22}, {'connected_gene': 'ZNF285', 'score': 23.91}, {'connected_gene': 'ZNF155', 'score': 21.87}, {'connected_gene': 'ZNF404', 'score': 20.52}, {'connected_gene': 'PINLYP', 'score': 19.01}, {'connected_gene': 'ZNF428', 'score': 13.84}, {'connected_gene': 'ZNF575', 'score': 13.47}, {'connected_gene': 'LOC100379224', 'score': 12.66}, {'connected_gene': 'CEACAM19', 'score': 11.79}, {'connected_gene': 'ENSG00000267191', 'score': 9.87}, {'connected_gene': 'SMG9', 'score': 8.34}, {'connected_gene': 'CD177', 'score': 5.21}, {'connected_gene': 'KCNN4', 'score': 3.7}, {'connected_gene': 'ZNF222', 'score': 3.22}, {'connected_gene': 'TEX101', 'score': 1.66}, {'connected_gene': 'ZNF230', 'score': 1.49}, {'connected_gene': 'GC19P043667', 'score': 0.44}, {'connected_gene': 'LOC105372412', 'score': 0.39}]
chr19	GH19I043762	43762674	43769281	1.75	[{'connected_gene': 'ZNF180', 'score': 68.59}, {'connected_gene': 'ZNF45', 'score': 56.07}, {'connected_gene': 'PLAUR', 'score': 40.17}, {'connected_gene': 'XRCC1', 'score': 38.07}, {'connected_gene': 'ZNF155', 'score': 36.76}, {'connected_gene': 'ZNF234', 'score': 33.83}, {'connected_gene': 'ZNF225', 'score': 32.74}, {'connected_gene': 'SMG9', 'score': 31.29}, {'connected_gene': 'ZNF224', 'score': 24.12}, {'connected_gene': 'ZNF230', 'score': 18.3}, {'connected_gene': 'ZNF227', 'score': 10.35}, {'connected_gene': 'ZNF284', 'score': 10.1}, {'connected_gene': 'KCNN4', 'score': 5.72}, {'connected_gene': 'IRGQ', 'score': 4.03}, {'connected_gene': 'ZNF222', 'score': 3.66}, {'connected_gene': 'TEX101', 'score': 1.42}, {'connected_gene': 'LYPD3', 'score': 1.2}]
chr19	GH19I043683	43683392	43683531	0.99	[{'connected_gene': 'PLAUR', 'score': 49.76}, {'connected_gene': 'SMG9', 'score': 9.66}, {'connected_gene': 'KCNN4', 'score': 4.71}, {'connected_gene': 'IRGQ', 'score': 3.48}, {'connected_gene': 'ZNF222', 'score': 3.38}, {'connected_gene': 'TEX101', 'score': 1.89}, {'connected_gene': 'LOC105372412', 'score': 0.77}]
chr19	GH19I043681	43681835	43682179	0.61	[{'connected_gene': 'PLAUR', 'score': 27.72}, {'connected_gene': 'ZNF230', 'score': 6.3}, {'connected_gene': 'SMG9', 'score': 3.86}, {'connected_gene': 'IRGQ', 'score': 2.38}, {'connected_gene': 'KCNN4', 'score': 1.9}, {'connected_gene': 'ZNF222', 'score': 1.81}, {'connected_gene': 'TEX101', 'score': 1.15}, {'connected_gene': 'LOC105372412', 'score': 0.44}, {'connected_gene': 'GC19P043667', 'score': 0.39}]
chr19	GH19I043773	43773680	43786123	2.83	[{'connected_gene': 'KCNN4', 'score': 585.15}, {'connected_gene': 'ZNF180', 'score': 246.04}, {'connected_gene': 'ZNF45', 'score': 238.71}, {'connected_gene': 'ZNF225', 'score': 207.05}, {'connected_gene': 'ZNF224', 'score': 147.71}, {'connected_gene': 'ZNF284', 'score': 141.24}, {'connected_gene': 'ZNF227', 'score': 133.6}, {'connected_gene': 'ZNF283', 'score': 124.54}, {'connected_gene': 'ZNF223', 'score': 122.26}, {'connected_gene': 'ZNF576', 'score': 116.22}, {'connected_gene': 'ZNF235', 'score': 114.73}, {'connected_gene': 'ZNF234', 'score': 114.71}, {'connected_gene': 'ZNF226', 'score': 100.3}, {'connected_gene': 'ZNF221', 'score': 97.07}, {'connected_gene': 'XRCC1', 'score': 86.02}, {'connected_gene': 'LOC100505715', 'score': 85.59}, {'connected_gene': 'MRPS15P2', 'score': 77.35}, {'connected_gene': 'ZNF230', 'score': 70.03}, {'connected_gene': 'ZNF285', 'score': 56.33}, {'connected_gene': 'ENSG00000267191', 'score': 51.98}, {'connected_gene': 'PINLYP', 'score': 48.97}, {'connected_gene': 'ZNF428', 'score': 46.95}, {'connected_gene': 'ZNF222', 'score': 44.64}, {'connected_gene': 'LOC101928063', 'score': 44.04}, {'connected_gene': 'LOC100379224', 'score': 39.29}, {'connected_gene': 'IRGQ', 'score': 39.13}, {'connected_gene': 'CEACAM19', 'score': 31.77}, {'connected_gene': 'SMG9', 'score': 30.49}, {'connected_gene': 'ENSG00000268601', 'score': 23.57}, {'connected_gene': 'LYPD5', 'score': 22.84}, {'connected_gene': 'PLAUR', 'score': 21.74}, {'connected_gene': 'ZNF285B', 'score': 19.74}, {'connected_gene': 'SRRM5', 'score': 14.96}, {'connected_gene': 'ZNF575', 'score': 13.43}, {'connected_gene': 'ZNF233', 'score': 11.12}, {'connected_gene': 'IRGC', 'score': 11.06}, {'connected_gene': 'PHLDB3', 'score': 10.59}, {'connected_gene': 'TEX101', 'score': 1.99}, {'connected_gene': 'PIR62393', 'score': 0.44}]
chr19	GH19I043421	43421069	43421198	0.31	[{'connected_gene': 'GC19M043399', 'score': 0.77}, {'connected_gene': 'TEX101', 'score': 0.29}]
chr19	GH19I043380	43380634	43381558	0.38	[{'connected_gene': 'GC19M043367', 'score': 550.77}, {'connected_gene': 'CD177P1', 'score': 550.77}, {'connected_gene': 'TEX101', 'score': 0.44}]