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
ENST00000472488	[[160085548, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106992]]	None
ENST00000478587	[[160085552, 160085663], [160090695, 160091065]]	None
ENST00000361216	[[160085562, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160113381]]	[[160085651, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160111112]]
ENST00000392233	[[160085566, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109715, 160109774], [160111083, 160111335]]	[[160085651, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109715, 160109774], [160111083, 160111112]]
ENST00000468587	[[160093747, 160093846], [160094085, 160094220], [160094925, 160095332]]	None
ENST00000447527	[[160097461, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106410, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160113381]]	[[160097461, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106410, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160111112]]
ENST00000463989	[[160106460, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109848]]	None
ENST00000459972	[[160109748, 160109774], [160110440, 160110564], [160111083, 160111567]]	None
NM_000702	[[160085519, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160113381]]	[[160085651, 160085663], [160090695, 160090800], [160090981, 160091041], [160093002, 160093206], [160093732, 160093846], [160094085, 160094220], [160094925, 160095043], [160097341, 160097610], [160098441, 160098640], [160098769, 160098879], [160099055, 160099190], [160099891, 160100081], [160100211, 160100387], [160104273, 160104410], [160104934, 160105085], [160105223, 160105392], [160105628, 160105783], [160106036, 160106160], [160106359, 160106505], [160106690, 160106821], [160109429, 160109531], [160109682, 160109774], [160111083, 160111112]]

Promoter

Chrom	Start	End	Description
chr1	160085501	160085562	CAGE_peak_1_at_ATP1A2_5end
chr1	160085568	160085578	CAGE_peak_3_at_ATP1A2_5end
chr1	160093136	160093147	CAGE_peak_9_at_ATP1A2_5end
chr1	160097523	160097534	CAGE_peak_20_at_ATP1A2_5end
chr1	160098170	160098199	CAGE_peak_2_at_ATP1A2_5end
chr1	160112787	160112798	CAGE_peak_12_at_ATP1A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160132	160132151	160132300	0.4	[{'connected_gene': 'IGSF8', 'score': 10.39}, {'connected_gene': 'NHLH1', 'score': 10.15}, {'connected_gene': 'KCNJ9', 'score': 9.82}, {'connected_gene': 'ATP1A2', 'score': 6.56}, {'connected_gene': 'GC01M160128', 'score': 0.77}, {'connected_gene': 'ATP1A4', 'score': 0.37}]
chr1	GH01I160095	160095441	160103654	2.65	[{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1	GH01I160108	160108791	160110022	1.24	[{'connected_gene': 'IGSF8', 'score': 6.2}, {'connected_gene': 'VSIG8', 'score': 4.31}, {'connected_gene': 'ATP1A2', 'score': 0.44}]
chr1	GH01I160083	160083607	160085126	1.11	[{'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'ATP1A2', 'score': 10.31}, {'connected_gene': 'ATP1A4', 'score': 8.33}, {'connected_gene': 'KCNJ9', 'score': 0.77}, {'connected_gene': 'IGSF8', 'score': 0.39}]
chr1	GH01I160250	160250630	160252660	0.94	[{'connected_gene': 'CASQ1', 'score': 11.35}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.39}, {'connected_gene': 'GC01P160261', 'score': 0.39}, {'connected_gene': 'ENSG00000258465', 'score': 0.29}, {'connected_gene': 'PIR40871', 'score': 0.28}]
chr1	GH01I160156	160156050	160157141	0.4	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 6.63}, {'connected_gene': 'GC01P160171', 'score': 0.37}]
chr1	GH01I160157	160157769	160158819	0.69	[{'connected_gene': 'CASQ1', 'score': 12.15}, {'connected_gene': 'ATP1A2', 'score': 11.64}, {'connected_gene': 'PEA15', 'score': 10.76}, {'connected_gene': 'IGSF8', 'score': 10.52}, {'connected_gene': 'PIGM', 'score': 8.81}, {'connected_gene': 'ATP1A4', 'score': 5.67}, {'connected_gene': 'GC01P160171', 'score': 0.39}]
chr1	GH01I160120	160120063	160121734	0.31	[{'connected_gene': 'ATP1A4', 'score': 26.46}, {'connected_gene': 'IGSF8', 'score': 5.7}, {'connected_gene': 'GC01P160126', 'score': 0.77}, {'connected_gene': 'GC01P160125', 'score': 0.77}, {'connected_gene': 'ATP1A2', 'score': 0.44}]
chr1	GH01I160139	160139335	160142648	0.31	[{'connected_gene': 'ATP1A4', 'score': 19.17}, {'connected_gene': 'CASQ1', 'score': 17.25}, {'connected_gene': 'ATP1A2', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 10.87}, {'connected_gene': 'IGSF8', 'score': 10.64}, {'connected_gene': 'LOC100287049', 'score': 10.39}, {'connected_gene': 'KCNJ10', 'score': 9.87}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'PEA15', 'score': 6.12}, {'connected_gene': 'GC01M160128', 'score': 0.39}]
chr1	GH01I160136	160136592	160138441	0.2	[{'connected_gene': 'ATP1A4', 'score': 32.77}, {'connected_gene': 'CASQ1', 'score': 17.53}, {'connected_gene': 'ATP1A2', 'score': 12.72}, {'connected_gene': 'KCNJ9', 'score': 11.06}, {'connected_gene': 'IGSF8', 'score': 10.65}, {'connected_gene': 'PIGM', 'score': 9.74}, {'connected_gene': 'SLAMF1', 'score': 9.02}, {'connected_gene': 'ENSG00000212161', 'score': 8.72}, {'connected_gene': 'GC01M160128', 'score': 0.44}]
chr1	GH01I160142	160142689	160143269	0.31	[{'connected_gene': 'ATP1A4', 'score': 17.47}, {'connected_gene': 'GC01M160128', 'score': 0.39}, {'connected_gene': 'ATP1A2', 'score': 0.31}]
chr1	GH01I160111	160111917	160118660	1.63	[{'connected_gene': 'ATP1A2', 'score': 560.0}, {'connected_gene': 'ATP1A4', 'score': 8.92}, {'connected_gene': 'IGSF8', 'score': 7.33}, {'connected_gene': 'KCNJ10', 'score': 4.75}, {'connected_gene': 'KCNJ9', 'score': 4.46}, {'connected_gene': 'PEA15', 'score': 2.38}]
chr1	GH01I160085	160085731	160087163	1.23	[{'connected_gene': 'ATP1A2', 'score': 15.59}, {'connected_gene': 'KCNJ9', 'score': 15.36}, {'connected_gene': 'PIGM', 'score': 10.43}, {'connected_gene': 'IGSF8', 'score': 8.21}, {'connected_gene': 'ATP1A4', 'score': 8.2}, {'connected_gene': 'KCNJ10', 'score': 4.63}, {'connected_gene': 'PEA15', 'score': 2.29}]
chr1	GH01I160104	160104001	160105312	0.78	[{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1	GH01I160255	160255755	160256620	0.43	[{'connected_gene': 'NCSTN', 'score': 21.49}, {'connected_gene': 'CASQ1', 'score': 11.26}, {'connected_gene': 'PEA15', 'score': 10.9}, {'connected_gene': 'ATP1A2', 'score': 10.59}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1	GH01I160254	160254853	160255710	0.2	[{'connected_gene': 'NCSTN', 'score': 29.37}, {'connected_gene': 'CASQ1', 'score': 11.27}, {'connected_gene': 'PEA15', 'score': 10.92}, {'connected_gene': 'ATP1A2', 'score': 10.6}, {'connected_gene': 'IGSF8', 'score': 10.56}, {'connected_gene': 'DCAF8', 'score': 0.44}, {'connected_gene': 'GC01P160261', 'score': 0.44}, {'connected_gene': 'ENSG00000258465', 'score': 0.31}, {'connected_gene': 'PIR40871', 'score': 0.26}]
chr1	GH01I160216	160216817	160220104	0.79	[{'connected_gene': 'NCSTN', 'score': 21.81}, {'connected_gene': 'CASQ1', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 11.53}, {'connected_gene': 'PEX19', 'score': 11.47}, {'connected_gene': 'ATP1A2', 'score': 11.15}, {'connected_gene': 'NHLH1', 'score': 10.52}, {'connected_gene': 'IGSF8', 'score': 10.46}, {'connected_gene': 'PIR40871', 'score': 0.77}, {'connected_gene': 'GC01P160261', 'score': 0.26}, {'connected_gene': 'ENSG00000258465', 'score': 0.2}]
chr1	GH01I160123	160123023	160129819	1.3	[{'connected_gene': 'GC01P160126', 'score': 550.77}, {'connected_gene': 'GC01P160125', 'score': 550.77}, {'connected_gene': 'ATP1A4', 'score': 61.58}, {'connected_gene': 'IGSF8', 'score': 15.94}, {'connected_gene': 'PEA15', 'score': 15.62}, {'connected_gene': 'CASQ1', 'score': 11.14}, {'connected_gene': 'KCNJ9', 'score': 10.25}, {'connected_gene': 'PIGM', 'score': 9.42}, {'connected_gene': 'ATP1A2', 'score': 7.23}, {'connected_gene': 'GC01M160128', 'score': 0.77}]
chr1	GH01I160168	160168662	160173026	0.96	[{'connected_gene': 'GC01P160171', 'score': 550.77}, {'connected_gene': 'ATP1A4', 'score': 37.99}, {'connected_gene': 'ATP1A2', 'score': 5.23}]