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
ENST00000560961	[[126763948, 126763976], [126776239, 126776442], [126777400, 126777640]]	[[126763948, 126763976], [126776239, 126776442], [126777400, 126777640]]
ENST00000373615	[[126773888, 126774747], [126776239, 126776442], [126777400, 126777804], [126783377, 126783583], [126794698, 126795580]]	[[126774627, 126774747], [126776239, 126776442], [126777400, 126777804], [126783377, 126783583], [126794698, 126794986]]
ENST00000446480	[[126774635, 126774747], [126776239, 126776442], [126777376, 126777804], [126783377, 126783583], [126794698, 126795163]]	[[126774635, 126774747], [126776239, 126776442], [126777376, 126777804], [126783377, 126783583], [126794698, 126794986]]
ENST00000488674	[[126777675, 126777804], [126783377, 126783583], [126784097, 126784146], [126794698, 126795580]]	[[126777675, 126777804], [126783377, 126783583], [126784097, 126784109]]
NM_004789	[[126773888, 126774747], [126776239, 126776442], [126777400, 126777804], [126783377, 126783583], [126794698, 126795442]]	[[126774627, 126774747], [126776239, 126776442], [126777400, 126777804], [126783377, 126783583], [126794698, 126794986]]

Promoter

Chrom	Start	End	Description
chr9	126773880	126773895	CAGE_peak_2_at_LHX2_5end
chr9	126774018	126774055	CAGE_peak_1_at_LHX2_5end
chr9	126774058	126774081	CAGE_peak_3_at_LHX2_5end
chr9	126774091	126774098	CAGE_peak_4_at_LHX2_5end
chr9	126777688	126777700	CAGE_peak_6_at_LHX2_5end
chr9	126777702	126777716	CAGE_peak_5_at_LHX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I123882	123882128	123882335	0.23	[{'connected_gene': 'LHX2', 'score': 3.62}, {'connected_gene': 'GC09P123844', 'score': 0.28}, {'connected_gene': 'DENND1A', 'score': 0.25}]
chr9	GH09I123540	123540417	123540709	0.44	[{'connected_gene': 'LHX2', 'score': 3.04}, {'connected_gene': 'LOC105376266', 'score': 0.29}, {'connected_gene': 'ENSG00000237336', 'score': 0.25}, {'connected_gene': 'DENND1A', 'score': 0.05}]
chr9	GH09I123546	123546062	123546211	0.2	[{'connected_gene': 'LHX2', 'score': 10.94}, {'connected_gene': 'ENSG00000231227', 'score': 10.94}, {'connected_gene': 'LOC100505588', 'score': 10.94}, {'connected_gene': 'LOC105376266', 'score': 0.31}, {'connected_gene': 'ENSG00000237336', 'score': 0.23}, {'connected_gene': 'DENND1A', 'score': 0.05}]
chr9	GH09I123568	123568702	123569401	0.82	[{'connected_gene': 'DENND1A', 'score': 11.3}, {'connected_gene': 'LHX2', 'score': 10.13}, {'connected_gene': 'ENSG00000231227', 'score': 10.13}, {'connected_gene': 'LOC100505588', 'score': 10.13}, {'connected_gene': 'LOC105376266', 'score': 0.77}, {'connected_gene': 'ENSG00000237336', 'score': 0.18}]
chr9	GH09I123655	123655869	123656415	0.83	[{'connected_gene': 'DENND1A', 'score': 10.29}, {'connected_gene': 'ENSG00000231227', 'score': 9.85}, {'connected_gene': 'LOC100505588', 'score': 9.85}, {'connected_gene': 'LHX2', 'score': 9.85}, {'connected_gene': 'LOC105376266', 'score': 0.18}, {'connected_gene': 'ENSG00000230826', 'score': 0.18}]
chr9	GH09I123562	123562764	123563571	0.8	[{'connected_gene': 'DENND1A', 'score': 11.3}, {'connected_gene': 'ENSG00000231227', 'score': 10.13}, {'connected_gene': 'LOC100505588', 'score': 10.13}, {'connected_gene': 'LHX2', 'score': 10.13}, {'connected_gene': 'LOC105376266', 'score': 0.39}, {'connected_gene': 'ENSG00000237336', 'score': 0.19}]
chr9	GH09I123560	123560848	123561486	0.2	[{'connected_gene': 'DENND1A', 'score': 11.3}, {'connected_gene': 'ENSG00000231227', 'score': 10.13}, {'connected_gene': 'LOC100505588', 'score': 10.13}, {'connected_gene': 'LHX2', 'score': 10.13}, {'connected_gene': 'ENSG00000230826', 'score': 4.97}, {'connected_gene': 'LOC105376266', 'score': 0.39}, {'connected_gene': 'ENSG00000237336', 'score': 0.2}]
chr9	GH09I124018	124018742	124018911	0.57	[{'connected_gene': 'GOLGA1', 'score': 11.86}, {'connected_gene': 'ENSG00000231227', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.39}, {'connected_gene': 'LHX2', 'score': 0.37}]
chr9	GH09I124054	124054597	124055194	1.13	[{'connected_gene': 'GOLGA1', 'score': 18.51}, {'connected_gene': 'LOC105376268', 'score': 12.96}, {'connected_gene': 'ENSG00000231227', 'score': 10.97}, {'connected_gene': 'LOC100505588', 'score': 10.95}, {'connected_gene': 'LHX2', 'score': 10.94}, {'connected_gene': 'GC09M124203', 'score': 0.11}]
chr9	GH09I124390	124390348	124396308	1.63	[{'connected_gene': 'NEK6', 'score': 11.85}, {'connected_gene': 'PSMB7', 'score': 11.54}, {'connected_gene': 'NR5A1', 'score': 9.99}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'ENSG00000231227', 'score': 9.7}, {'connected_gene': 'LOC100505588', 'score': 9.7}, {'connected_gene': 'LHX2', 'score': 9.7}, {'connected_gene': 'DENND1A', 'score': 2.12}, {'connected_gene': 'GC09P124378', 'score': 0.39}]
chr9	GH09I124030	124030950	124031581	0.66	[{'connected_gene': 'LOC105376268', 'score': 550.77}, {'connected_gene': 'ENSG00000231227', 'score': 0.34}, {'connected_gene': 'LHX2', 'score': 0.31}]
chr9	GH09I123998	123998785	124000525	0.76	[{'connected_gene': 'LOC105376267', 'score': 550.77}, {'connected_gene': 'LOC105376268', 'score': 11.68}, {'connected_gene': 'LHX2', 'score': 0.77}]
chr9	GH09I123749	123749702	123749851	0.72	[{'connected_gene': 'LOC100505588', 'score': 10.24}, {'connected_gene': 'LHX2', 'score': 10.24}, {'connected_gene': 'ENSG00000231227', 'score': 10.24}, {'connected_gene': 'DENND1A', 'score': 10.0}, {'connected_gene': 'PIR57991', 'score': 0.44}, {'connected_gene': 'ENSG00000230826', 'score': 0.39}]
chr9	GH09I123551	123549262	123549601	0.62	[{'connected_gene': 'LOC100505588', 'score': 10.94}, {'connected_gene': 'LHX2', 'score': 10.94}, {'connected_gene': 'ENSG00000231227', 'score': 10.94}, {'connected_gene': 'LOC105376266', 'score': 0.34}, {'connected_gene': 'ENSG00000237336', 'score': 0.22}, {'connected_gene': 'DENND1A', 'score': 0.05}]
chr9	GH09I123549	123549966	123550725	0.87	[{'connected_gene': 'LOC100505588', 'score': 9.95}, {'connected_gene': 'LHX2', 'score': 9.95}, {'connected_gene': 'ENSG00000231227', 'score': 9.95}, {'connected_gene': 'LOC105376266', 'score': 0.34}, {'connected_gene': 'ENSG00000237336', 'score': 0.22}, {'connected_gene': 'DENND1A', 'score': 0.05}]
chr9	GH09I124006	124006806	124007770	0.81	[{'connected_gene': 'LOC100505588', 'score': 0.77}, {'connected_gene': 'LHX2', 'score': 0.44}]
chr9	GH09I124011	124010886	124012179	1.38	[{'connected_gene': 'ENSG00000231227', 'score': 550.77}, {'connected_gene': 'LHX2', 'score': 550.44}, {'connected_gene': 'LOC105376268', 'score': 0.34}]
chr9	GH09I124013	124013942	124014051	0.52	[{'connected_gene': 'ENSG00000231227', 'score': 0.77}, {'connected_gene': 'LHX2', 'score': 0.39}, {'connected_gene': 'LOC105376268', 'score': 0.37}]
chr9	GH09I123637	123637401	123638600	0.99	[{'connected_gene': 'ENSG00000261094', 'score': 11.36}, {'connected_gene': 'LHX2', 'score': 9.65}, {'connected_gene': 'ENSG00000231227', 'score': 9.65}, {'connected_gene': 'LOC100505588', 'score': 9.65}, {'connected_gene': 'LOC105376266', 'score': 0.21}, {'connected_gene': 'ENSG00000230826', 'score': 0.15}, {'connected_gene': 'DENND1A', 'score': 0.06}]
chr9	GH09I124020	124018242	124018391	0.31	[{'connected_gene': 'ENSG00000231227', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.39}, {'connected_gene': 'LHX2', 'score': 0.37}]
chr9	GH09I124019	124019202	124019351	0.49	[{'connected_gene': 'ENSG00000231227', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.39}, {'connected_gene': 'LHX2', 'score': 0.37}]
chr9	GH09I124077	124077254	124080079	0.99	[{'connected_gene': 'ENSG00000231227', 'score': 11.32}, {'connected_gene': 'LOC100505588', 'score': 11.32}, {'connected_gene': 'LHX2', 'score': 11.3}, {'connected_gene': 'LOC105376268', 'score': 0.25}, {'connected_gene': 'GC09M124203', 'score': 0.13}]
chr9	GH09I124012	124010720	124010731	0.57	[{'connected_gene': 'ENSG00000231227', 'score': 550.77}, {'connected_gene': 'LOC100505588', 'score': 550.77}, {'connected_gene': 'LHX2', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.34}]
chr9	GH09I124010	124010502	124010651	0.65	[{'connected_gene': 'ENSG00000231227', 'score': 550.77}, {'connected_gene': 'LOC100505588', 'score': 550.77}, {'connected_gene': 'LHX2', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.34}]
chr9	GH09I123550	123550882	123551031	0.38	[{'connected_gene': 'ENSG00000231227', 'score': 9.95}, {'connected_gene': 'LOC100505588', 'score': 9.95}, {'connected_gene': 'LHX2', 'score': 9.95}, {'connected_gene': 'LOC105376266', 'score': 0.34}, {'connected_gene': 'ENSG00000237336', 'score': 0.22}, {'connected_gene': 'DENND1A', 'score': 0.05}]
chr9	GH09I124008	124008483	124009164	0.83	[{'connected_gene': 'ENSG00000231227', 'score': 550.77}, {'connected_gene': 'LOC100505588', 'score': 550.77}, {'connected_gene': 'LHX2', 'score': 0.44}]