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
ENST00000289382	[[101869263, 101869940], [101874252, 101874417], [101879000, 101879153], [101881306, 101881509], [101883138, 101883341], [101885501, 101885598], [101885677, 101886778]]	[[101869426, 101869940], [101874252, 101874417], [101879000, 101879153], [101881306, 101881509], [101883138, 101883341], [101885501, 101885598], [101885677, 101885875]]
ENST00000462489	[[101878892, 101879153], [101881306, 101881509], [101883138, 101883246]]	None
ENST00000420107	[[101881436, 101881509], [101883138, 101883341], [101885501, 101885777]]	[[101881436, 101881509], [101883138, 101883341], [101885501, 101885607]]
NM_017546	[[101869344, 101869940], [101874252, 101874417], [101879000, 101879153], [101881306, 101881509], [101883138, 101883341], [101885501, 101885598], [101885677, 101886778]]	[[101869426, 101869940], [101874252, 101874417], [101879000, 101879153], [101881306, 101881509], [101883138, 101883341], [101885501, 101885598], [101885677, 101885875]]

Promoter

Chrom	Start	End	Description
chr2	101869229	101869242	CAGE_peak_3_at_C2orf29_5end
chr2	101869262	101869279	CAGE_peak_2_at_C2orf29_5end
chr2	101869310	101869321	CAGE_peak_4_at_C2orf29_5end
chr2	101869329	101869388	CAGE_peak_1_at_C2orf29_5end
chr2	101869394	101869415	CAGE_peak_5_at_C2orf29_5end
chr2	101878835	101878850	CAGE_peak_16_at_C2orf29_5end
chr2	101878862	101878871	CAGE_peak_18_at_C2orf29_5end
chr2	101878877	101878885	CAGE_peak_17_at_C2orf29_5end
chr2	101878897	101878924	CAGE_peak_6_at_C2orf29_5end
chr2	101878929	101878940	CAGE_peak_8_at_C2orf29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I101233	101233604	101235393	0.86	[{'connected_gene': 'SNORD89', 'score': 28.26}, {'connected_gene': 'RNF149', 'score': 13.71}, {'connected_gene': 'TBC1D8', 'score': 0.37}, {'connected_gene': 'CNOT11', 'score': 0.37}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.18}]
chr2	GH02I101244	101244519	101244708	0.63	[{'connected_gene': 'SNORD89', 'score': 10.69}, {'connected_gene': 'RNF149', 'score': 10.58}, {'connected_gene': 'TBC1D8', 'score': 0.44}, {'connected_gene': 'CNOT11', 'score': 0.44}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.16}]
chr2	GH02I101236	101236943	101241249	1.28	[{'connected_gene': 'SNORD89', 'score': 40.06}, {'connected_gene': 'RNF149', 'score': 10.62}, {'connected_gene': 'TBC1D8', 'score': 0.39}, {'connected_gene': 'CNOT11', 'score': 0.39}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.17}]
chr2	GH02I101229	101229877	101232389	1.06	[{'connected_gene': 'SNORD89', 'score': 17.85}, {'connected_gene': 'TBC1D8', 'score': 0.34}, {'connected_gene': 'CNOT11', 'score': 0.34}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.18}]
chr2	GH02I101199	101199150	101200108	0.7	[{'connected_gene': 'SNORD89', 'score': 4.92}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.25}, {'connected_gene': 'TBC1D8', 'score': 0.23}, {'connected_gene': 'CNOT11', 'score': 0.23}]
chr2	GH02I101160	101160619	101160768	0.31	[{'connected_gene': 'RPL31', 'score': 10.73}, {'connected_gene': 'ENSG00000223947', 'score': 10.73}, {'connected_gene': 'LOC101927142', 'score': 10.11}, {'connected_gene': 'NPAS2', 'score': 10.08}, {'connected_gene': 'ENSG00000232034', 'score': 9.0}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.44}, {'connected_gene': 'TBC1D8', 'score': 0.16}, {'connected_gene': 'CNOT11', 'score': 0.16}]
chr2	GH02I101163	101163019	101163248	0.54	[{'connected_gene': 'RPL31', 'score': 11.08}, {'connected_gene': 'ENSG00000223947', 'score': 11.08}, {'connected_gene': 'LOC101927142', 'score': 10.11}, {'connected_gene': 'NPAS2', 'score': 10.08}, {'connected_gene': 'ENSG00000232034', 'score': 9.0}, {'connected_gene': 'TBC1D8-AS1', 'score': 8.97}, {'connected_gene': 'TBC1D8', 'score': 0.17}, {'connected_gene': 'CNOT11', 'score': 0.17}]
chr2	GH02I101190	101190801	101192000	0.46	[{'connected_gene': 'RPL31', 'score': 10.61}, {'connected_gene': 'ENSG00000223947', 'score': 10.61}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.28}, {'connected_gene': 'TBC1D8', 'score': 0.21}, {'connected_gene': 'CNOT11', 'score': 0.21}]
chr2	GH02I101185	101185839	101185968	0.2	[{'connected_gene': 'RPL31', 'score': 10.62}, {'connected_gene': 'ENSG00000223947', 'score': 10.62}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.29}, {'connected_gene': 'TBC1D8', 'score': 0.2}, {'connected_gene': 'CNOT11', 'score': 0.2}]
chr2	GH02I100779	100779790	100782587	1.58	[{'connected_gene': 'NPAS2', 'score': 11.53}, {'connected_gene': 'ENSG00000232034', 'score': 11.51}, {'connected_gene': 'LOC101927142', 'score': 9.73}, {'connected_gene': 'CNOT11', 'score': 2.77}, {'connected_gene': 'LOC105373508', 'score': 0.26}]
chr2	GH02I101245	101245282	101246840	0.92	[{'connected_gene': 'RNF149', 'score': 25.26}, {'connected_gene': 'SNORD89', 'score': 10.69}, {'connected_gene': 'TBC1D8', 'score': 0.44}, {'connected_gene': 'CNOT11', 'score': 0.44}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.16}]
chr2	GH02I100984	100984959	100985128	0.9	[{'connected_gene': 'RNF149', 'score': 10.09}, {'connected_gene': 'CNOT11', 'score': 9.77}, {'connected_gene': 'LOC101927142', 'score': 0.44}, {'connected_gene': 'PIR60091', 'score': 0.37}, {'connected_gene': 'NPAS2', 'score': 0.1}]
chr2	GH02I101255	101255871	101256187	0.22	[{'connected_gene': 'RNF149', 'score': 27.21}, {'connected_gene': 'TBC1D8', 'score': 0.77}, {'connected_gene': 'CNOT11', 'score': 0.77}, {'connected_gene': 'LOC105373511', 'score': 0.39}]
chr2	GH02I101175	101175000	101175646	1.03	[{'connected_gene': 'RNF149', 'score': 2.54}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.34}, {'connected_gene': 'TBC1D8', 'score': 0.18}, {'connected_gene': 'CNOT11', 'score': 0.18}]
chr2	GH02I101250	101250987	101255063	2.43	[{'connected_gene': 'TBC1D8', 'score': 550.77}, {'connected_gene': 'CNOT11', 'score': 550.77}, {'connected_gene': 'SNORD89', 'score': 29.19}, {'connected_gene': 'RNF149', 'score': 27.78}, {'connected_gene': 'LOC105373511', 'score': 0.39}]
chr2	GH02I101207	101207149	101208631	0.94	[{'connected_gene': 'TBC1D8', 'score': 0.26}, {'connected_gene': 'CNOT11', 'score': 0.26}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.22}]
chr2	GH02I101223	101223529	101224669	0.89	[{'connected_gene': 'TBC1D8', 'score': 0.31}, {'connected_gene': 'CNOT11', 'score': 0.31}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.19}]
chr2	GH02I101265	101265256	101267000	0.43	[{'connected_gene': 'LOC105373511', 'score': 550.77}, {'connected_gene': 'SNORD89', 'score': 18.16}, {'connected_gene': 'RNF149', 'score': 14.82}, {'connected_gene': 'TBC1D8', 'score': 0.39}, {'connected_gene': 'CNOT11', 'score': 0.39}]
chr2	GH02I101262	101262638	101264692	0.78	[{'connected_gene': 'LOC105373511', 'score': 0.77}, {'connected_gene': 'TBC1D8', 'score': 0.39}, {'connected_gene': 'CNOT11', 'score': 0.39}]
chr2	GH02I101173	101173459	101174613	1.01	[{'connected_gene': 'LOC101927142', 'score': 6.68}, {'connected_gene': 'TBC1D8', 'score': 4.57}, {'connected_gene': 'RNF149', 'score': 3.04}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.34}, {'connected_gene': 'CNOT11', 'score': 0.18}]
chr2	GH02I101205	101205201	101206328	0.97	[{'connected_gene': 'TBC1D8-AS1', 'score': 5.21}, {'connected_gene': 'TBC1D8', 'score': 0.25}, {'connected_gene': 'CNOT11', 'score': 0.25}]
chr2	GH02I101200	101200422	101201291	0.31	[{'connected_gene': 'TBC1D8-AS1', 'score': 0.25}, {'connected_gene': 'TBC1D8', 'score': 0.23}, {'connected_gene': 'CNOT11', 'score': 0.23}]
chr2	GH02I101177	101176601	101176800	0.2	[{'connected_gene': 'TBC1D8-AS1', 'score': 0.31}, {'connected_gene': 'TBC1D8', 'score': 0.18}, {'connected_gene': 'CNOT11', 'score': 0.18}]
chr2	GH02I101176	101176001	101176288	0.82	[{'connected_gene': 'TBC1D8-AS1', 'score': 0.34}, {'connected_gene': 'TBC1D8', 'score': 0.18}, {'connected_gene': 'CNOT11', 'score': 0.18}]
chr2	GH02I101268	101268021	101268308	0.82	[{'connected_gene': 'GC02P101269', 'score': 550.77}, {'connected_gene': 'LOC105373511', 'score': 550.77}, {'connected_gene': 'GC02P101270', 'score': 550.77}, {'connected_gene': 'SNORD89', 'score': 18.28}, {'connected_gene': 'RNF149', 'score': 13.86}, {'connected_gene': 'MAP4K4', 'score': 2.25}, {'connected_gene': 'CNOT11', 'score': 0.37}]