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
ENST00000259400	[[102668914, 102668988], [102677459, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102732618]]	[[102677521, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102730955]]
ENST00000529340	[[102668952, 102668988], [102677459, 102677644], [102678330, 102678450], [102691059, 102691125], [102713341, 102713567], [102722386, 102722437], [102729934, 102730021], [102730715, 102730802]]	[[102677521, 102677644], [102678330, 102678345]]
ENST00000533696	[[102668954, 102668988], [102677459, 102677644], [102691059, 102691451]]	None
ENST00000531035	[[102668958, 102668988], [102676271, 102676433], [102677459, 102677644], [102691059, 102691125], [102713341, 102713466]]	[[102677521, 102677644]]
ENST00000525342	[[102668959, 102668988], [102677459, 102677644], [102691059, 102691125], [102708000, 102708132], [102713341, 102713567], [102722198, 102722235]]	[[102677521, 102677644], [102691059, 102691125], [102708000, 102708018]]
ENST00000524405	[[102668977, 102668988], [102677459, 102677644], [102691059, 102691125], [102713341, 102713567], [102722386, 102722437], [102729934, 102730021], [102730715, 102731030]]	[[102677521, 102677644], [102691059, 102691125], [102713341, 102713567], [102722386, 102722397]]
ENST00000525640	[[102668990, 102669675], [102677459, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102731822]]	[[102677521, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102730955]]
ENST00000534052	[[102668993, 102669579], [102677459, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102731822]]	[[102677521, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102730955]]
ENST00000526607	[[102669023, 102669380], [102677459, 102677644]]	[[102677521, 102677644]]
ENST00000525579	[[102691059, 102691125], [102713341, 102713567], [102716275, 102716325]]	None
ENST00000525847	[[102700189, 102700358], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102730894]]	None
ENST00000529385	[[102729551, 102730021], [102730715, 102731103]]	None
NM_017919	[[102668914, 102668988], [102677459, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102736818]]	[[102677521, 102677644], [102691059, 102691125], [102713341, 102713567], [102722198, 102722314], [102722386, 102722437], [102729934, 102730021], [102730715, 102730955]]

Promoter

Chrom	Start	End	Description
chr9	102668928	102668967	CAGE_peak_1_at_STX17_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I099056	99056674	99060907	1.64	[{'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'TGFBR1', 'score': 1.75}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}, {'connected_gene': 'COL15A1', 'score': 0.13}]
chr9	GH09I099072	99071690	99073526	0.94	[{'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'TGFBR1', 'score': 0.29}, {'connected_gene': 'ENSG00000270412', 'score': 0.13}]
chr9	GH09I100082	100082444	100085718	1.04	[{'connected_gene': 'STX17', 'score': 17.57}, {'connected_gene': 'TEX10', 'score': 10.71}, {'connected_gene': 'INVS', 'score': 6.54}, {'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.2}]
chr9	GH09I099905	99905880	99908269	2.02	[{'connected_gene': 'STX17', 'score': 569.59}, {'connected_gene': 'STX17-AS1', 'score': 550.77}, {'connected_gene': 'NR4A3', 'score': 10.92}, {'connected_gene': 'LOC101928438', 'score': 10.92}, {'connected_gene': 'TEX10', 'score': 10.69}, {'connected_gene': 'INVS', 'score': 6.49}, {'connected_gene': 'ENSG00000254571', 'score': 0.34}]
chr9	GH09I100196	100196308	100197632	0.69	[{'connected_gene': 'STX17', 'score': 16.51}, {'connected_gene': 'INVS', 'score': 8.06}, {'connected_gene': 'GC09P100176', 'score': 0.34}, {'connected_gene': 'GC09P100306', 'score': 0.14}]
chr9	GH09I100093	100093979	100094128	0.49	[{'connected_gene': 'STX17', 'score': 17.56}, {'connected_gene': 'ERP44', 'score': 0.77}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9	GH09I100088	100088319	100088468	0.67	[{'connected_gene': 'STX17', 'score': 17.8}, {'connected_gene': 'ERP44', 'score': 0.39}, {'connected_gene': 'LOC105376176', 'score': 0.19}]
chr9	GH09I100028	100028219	100028388	0.75	[{'connected_gene': 'STX17', 'score': 17.09}, {'connected_gene': 'LOC105376176', 'score': 0.39}, {'connected_gene': 'ERP44', 'score': 0.19}]
chr9	GH09I100351	100351200	100353888	2.06	[{'connected_gene': 'TEX10', 'score': 604.47}, {'connected_gene': 'LOC105376177', 'score': 550.77}, {'connected_gene': 'INVS', 'score': 26.73}, {'connected_gene': 'STX17', 'score': 11.62}, {'connected_gene': 'TMEFF1', 'score': 5.6}, {'connected_gene': 'GC09P100306', 'score': 0.25}]
chr9	GH09I099301	99301786	99302688	0.86	[{'connected_gene': 'KRT8P11', 'score': 25.66}, {'connected_gene': 'INVS', 'score': 13.18}, {'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'RN7SKP225', 'score': 0.37}]
chr9	GH09I100066	100066398	100067159	0.72	[{'connected_gene': 'INVS', 'score': 19.38}, {'connected_gene': 'STX17', 'score': 17.06}, {'connected_gene': 'ERP44', 'score': 11.94}, {'connected_gene': 'RN7SL75P', 'score': 11.92}, {'connected_gene': 'LOC105376176', 'score': 0.23}]
chr9	GH09I100213	100213379	100214434	0.63	[{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.5}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9	GH09I100209	100209739	100210788	0.94	[{'connected_gene': 'INVS', 'score': 17.83}, {'connected_gene': 'STX17', 'score': 15.41}, {'connected_gene': 'RN7SL75P', 'score': 11.4}, {'connected_gene': 'ERP44', 'score': 11.4}, {'connected_gene': 'NR4A3', 'score': 10.33}, {'connected_gene': 'LOC101928438', 'score': 10.32}, {'connected_gene': 'MSANTD3', 'score': 9.82}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 9.81}, {'connected_gene': 'TMEFF1', 'score': 9.81}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.15}]
chr9	GH09I100211	100211266	100212839	0.2	[{'connected_gene': 'INVS', 'score': 17.93}, {'connected_gene': 'STX17', 'score': 16.26}, {'connected_gene': 'RN7SL75P', 'score': 10.88}, {'connected_gene': 'ERP44', 'score': 10.88}, {'connected_gene': 'NR4A3', 'score': 10.16}, {'connected_gene': 'LOC101928438', 'score': 10.16}, {'connected_gene': 'MSANTD3', 'score': 8.86}, {'connected_gene': 'MSANTD3-TMEFF1', 'score': 8.86}, {'connected_gene': 'TMEFF1', 'score': 8.85}, {'connected_gene': 'GC09P100176', 'score': 0.28}, {'connected_gene': 'GC09P100306', 'score': 0.16}]
chr9	GH09I100144	100144781	100146768	1.09	[{'connected_gene': 'INVS', 'score': 22.36}, {'connected_gene': 'STX17', 'score': 15.62}, {'connected_gene': 'RN7SL75P', 'score': 11.6}, {'connected_gene': 'ERP44', 'score': 11.58}, {'connected_gene': 'GC09P100140', 'score': 0.44}, {'connected_gene': 'NANOGP5', 'score': 0.31}]
chr9	GH09I100097	100097452	100100560	2.04	[{'connected_gene': 'INVS', 'score': 561.25}, {'connected_gene': 'ERP44', 'score': 550.77}, {'connected_gene': 'STX17', 'score': 17.37}, {'connected_gene': 'LOC105376176', 'score': 0.18}]
chr9	GH09I099257	99257443	99260858	1.5	[{'connected_gene': 'INVS', 'score': 13.18}, {'connected_gene': 'SEC61B', 'score': 11.84}, {'connected_gene': 'ALG2', 'score': 11.84}, {'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'KRT8P11', 'score': 4.86}, {'connected_gene': 'GC09P099237', 'score': 0.34}, {'connected_gene': 'RN7SKP225', 'score': 0.34}]
chr9	GH09I098970	98970438	98978667	1.3	[{'connected_gene': 'COL15A1', 'score': 17.8}, {'connected_gene': 'STX17', 'score': 15.18}, {'connected_gene': 'ENSG00000270412', 'score': 0.29}, {'connected_gene': 'TGFBR1', 'score': 0.13}]
chr9	GH09I099181	99181203	99182301	1.29	[{'connected_gene': 'LOC105376174', 'score': 550.77}, {'connected_gene': 'ALG2', 'score': 13.06}, {'connected_gene': 'STX17', 'score': 12.16}, {'connected_gene': 'SEC61B', 'score': 11.92}, {'connected_gene': 'GC09M099146', 'score': 0.28}, {'connected_gene': 'RNA5SP290', 'score': 0.28}]
chr9	GH09I099969	99967983	99968096	0.2	[{'connected_gene': 'UPF3AP3', 'score': 0.29}, {'connected_gene': 'ENSG00000254571', 'score': 0.28}, {'connected_gene': 'STX17', 'score': 0.21}]
chr9	GH09I099967	99967079	99967089	0.62	[{'connected_gene': 'UPF3AP3', 'score': 0.29}, {'connected_gene': 'ENSG00000254571', 'score': 0.28}, {'connected_gene': 'STX17', 'score': 0.21}]
chr9	GH09I099966	99966339	99966561	0.2	[{'connected_gene': 'UPF3AP3', 'score': 0.29}, {'connected_gene': 'ENSG00000254571', 'score': 0.28}, {'connected_gene': 'STX17', 'score': 0.22}]
chr9	GH09I099968	99966839	99966988	0.64	[{'connected_gene': 'UPF3AP3', 'score': 0.29}, {'connected_gene': 'ENSG00000254571', 'score': 0.28}, {'connected_gene': 'STX17', 'score': 0.21}]
chr9	GH09I099922	99922499	99922648	0.56	[{'connected_gene': 'ENSG00000254571', 'score': 0.44}, {'connected_gene': 'STX17', 'score': 0.37}]