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
ENST00000496902	[[27282163, 27283076], [27284666, 27284923], [27285504, 27287046]]	[[27282649, 27283076], [27284666, 27284923], [27285504, 27286044]]
ENST00000222761	[[27282318, 27283021], [27284666, 27284923], [27285504, 27286044]]	[[27282649, 27283021], [27284666, 27284900]]
ENST00000535619	[[27282986, 27283021], [27284085, 27284137], [27284666, 27284923], [27285504, 27286795]]	[[27284785, 27284923], [27285504, 27286044]]
ENST00000580535	[[27282986, 27283021], [27284085, 27284137], [27284666, 27284923], [27285504, 27286795]]	[[27282986, 27283021], [27284085, 27284137], [27284666, 27284900]]
ENST00000518886	[[27286986, 27287020], [27289766, 27290112]]	None
NM_001304519	[[27282163, 27283021], [27284666, 27284923], [27285504, 27287438]]	[[27284785, 27284923], [27285504, 27286044]]
NM_001304520	[[27282163, 27283021], [27284085, 27284137], [27284666, 27284923], [27285504, 27287438]]	[[27284785, 27284923], [27285504, 27286044]]
NM_001989	[[27282163, 27283076], [27284666, 27284923], [27285504, 27287438]]	[[27282649, 27283076], [27284666, 27284923], [27285504, 27286044]]

Promoter

Chrom	Start	End	Description
chr7	27282385	27282394	CAGE_peak_3_at_EVX1_5end
chr7	27282416	27282426	CAGE_peak_1_at_EVX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I028082	28082367	28084999	1.11	[{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7	GH07I028081	28081201	28081400	0.2	[{'connected_gene': 'JAZF1', 'score': 10.51}, {'connected_gene': 'JAZF1-AS1', 'score': 10.51}, {'connected_gene': 'HOXA11-AS', 'score': 9.65}, {'connected_gene': 'HOXA11', 'score': 9.65}, {'connected_gene': 'HOXA9', 'score': 9.65}, {'connected_gene': 'HOXA10', 'score': 9.65}, {'connected_gene': 'HOXA13', 'score': 9.17}, {'connected_gene': 'HOTTIP', 'score': 9.17}, {'connected_gene': 'ENSG00000253508', 'score': 9.17}, {'connected_gene': 'EVX1-AS', 'score': 8.72}, {'connected_gene': 'EVX1', 'score': 8.72}, {'connected_gene': 'ENSG00000253308', 'score': 8.72}, {'connected_gene': 'GC07P028093', 'score': 0.39}, {'connected_gene': 'GC07P028054', 'score': 0.31}]
chr7	GH07I027243	27243962	27244111	0.31	[{'connected_gene': 'EVX1', 'score': 550.77}, {'connected_gene': 'EVX1-AS', 'score': 0.77}]
chr7	GH07I027560	27560622	27561676	0.38	[{'connected_gene': 'HIBADH', 'score': 12.25}, {'connected_gene': 'EVX1-AS', 'score': 9.83}, {'connected_gene': 'ENSG00000253308', 'score': 9.83}, {'connected_gene': 'EVX1', 'score': 9.83}, {'connected_gene': 'PIR36003', 'score': 0.29}, {'connected_gene': 'TSL', 'score': 0.23}]
chr7	GH07I027349	27349618	27350391	0.57	[{'connected_gene': 'EVX1-AS', 'score': 10.52}, {'connected_gene': 'ENSG00000253308', 'score': 10.51}, {'connected_gene': 'EVX1', 'score': 10.51}, {'connected_gene': 'TAX1BP1', 'score': 4.64}, {'connected_gene': 'LOC105375207', 'score': 0.39}, {'connected_gene': 'HNRNPA1P73', 'score': 0.34}]
chr7	GH07I027533	27533596	27533907	0.58	[{'connected_gene': 'EVX1-AS', 'score': 9.86}, {'connected_gene': 'ENSG00000253308', 'score': 9.86}, {'connected_gene': 'EVX1', 'score': 9.86}, {'connected_gene': 'PIR36003', 'score': 0.77}, {'connected_gene': 'TSL', 'score': 0.18}, {'connected_gene': 'HIBADH', 'score': 0.13}]
chr7	GH07I027534	27534261	27534366	0.22	[{'connected_gene': 'EVX1-AS', 'score': 9.86}, {'connected_gene': 'ENSG00000253308', 'score': 9.86}, {'connected_gene': 'EVX1', 'score': 9.86}, {'connected_gene': 'PIR36003', 'score': 0.44}, {'connected_gene': 'TSL', 'score': 0.18}, {'connected_gene': 'HIBADH', 'score': 0.13}]
chr7	GH07I027277	27277142	27278151	0.71	[{'connected_gene': 'EVX1-AS', 'score': 11.35}, {'connected_gene': 'ENSG00000253308', 'score': 11.34}, {'connected_gene': 'EVX1', 'score': 11.34}, {'connected_gene': 'RPL35P4', 'score': 0.44}, {'connected_gene': 'HNRNPA1P73', 'score': 0.23}]
chr7	GH07I027245	27245842	27245910	0.38	[{'connected_gene': 'EVX1-AS', 'score': 550.77}, {'connected_gene': 'EVX1', 'score': 0.77}]
chr7	GH07I027933	27933565	27934371	0.56	[{'connected_gene': 'HOTTIP', 'score': 11.89}, {'connected_gene': 'HOXA13', 'score': 11.89}, {'connected_gene': 'ENSG00000253508', 'score': 10.93}, {'connected_gene': 'EVX1-AS', 'score': 10.22}, {'connected_gene': 'ENSG00000253308', 'score': 10.22}, {'connected_gene': 'EVX1', 'score': 10.22}, {'connected_gene': 'PIR39851', 'score': 0.25}, {'connected_gene': 'PIR54187', 'score': 0.15}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7	GH07I027920	27920991	27921638	1.04	[{'connected_gene': 'ENSG00000253508', 'score': 11.56}, {'connected_gene': 'HOXA13', 'score': 11.56}, {'connected_gene': 'HOTTIP', 'score': 11.56}, {'connected_gene': 'HOXA11-AS', 'score': 10.71}, {'connected_gene': 'HOXA11', 'score': 10.71}, {'connected_gene': 'HOXA9', 'score': 10.71}, {'connected_gene': 'HOXA10', 'score': 10.71}, {'connected_gene': 'ENSG00000253308', 'score': 10.65}, {'connected_gene': 'EVX1', 'score': 10.64}, {'connected_gene': 'EVX1-AS', 'score': 10.08}, {'connected_gene': 'PIR39851', 'score': 0.28}, {'connected_gene': 'PIR54187', 'score': 0.14}, {'connected_gene': 'JAZF1', 'score': 0.07}]
chr7	GH07I027248	27248649	27249872	0.63	[{'connected_gene': 'GC07P027262', 'score': 550.77}, {'connected_gene': 'HOXA13', 'score': 11.86}, {'connected_gene': 'HOTTIP', 'score': 11.85}, {'connected_gene': 'ENSG00000253508', 'score': 10.7}, {'connected_gene': 'EVX1', 'score': 0.44}, {'connected_gene': 'GC07M027270', 'score': 0.34}]
chr7	GH07I027204	27204847	27205717	0.38	[{'connected_gene': 'ENSG00000277553', 'score': 550.77}, {'connected_gene': 'HOXA10', 'score': 11.63}, {'connected_gene': 'HOXA9', 'score': 11.61}, {'connected_gene': 'ENSG00000253308', 'score': 11.54}, {'connected_gene': 'EVX1', 'score': 11.54}, {'connected_gene': 'EVX1-AS', 'score': 11.53}, {'connected_gene': 'ENSG00000277469', 'score': 0.77}, {'connected_gene': 'HOTTIP', 'score': 0.44}]
chr7	GH07I028035	28035380	28044127	1.4	[{'connected_gene': 'ENSG00000253308', 'score': 9.45}, {'connected_gene': 'EVX1', 'score': 9.45}, {'connected_gene': 'EVX1-AS', 'score': 9.45}, {'connected_gene': 'CREB5', 'score': 1.36}, {'connected_gene': 'LOC105375208', 'score': 0.77}, {'connected_gene': 'GC07P028046', 'score': 0.44}, {'connected_gene': 'JAZF1', 'score': 0.11}]
chr7	GH07I027203	27202161	27202758	0.54	[{'connected_gene': 'ENSG00000278708', 'score': 550.77}, {'connected_gene': 'ENSG00000276609', 'score': 550.77}, {'connected_gene': 'ENSG00000277469', 'score': 550.77}, {'connected_gene': 'ENSG00000253308', 'score': 11.98}, {'connected_gene': 'EVX1', 'score': 11.97}, {'connected_gene': 'EVX1-AS', 'score': 11.97}, {'connected_gene': 'HOXA10', 'score': 11.66}, {'connected_gene': 'HOXA9', 'score': 11.63}, {'connected_gene': 'HOTTIP', 'score': 0.77}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7	GH07I027210	27210239	27211438	0.83	[{'connected_gene': 'ENSG00000253308', 'score': 11.75}, {'connected_gene': 'EVX1', 'score': 11.75}, {'connected_gene': 'EVX1-AS', 'score': 11.73}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOXA1', 'score': 9.33}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA13', 'score': 5.9}, {'connected_gene': 'ENSG00000277553', 'score': 0.77}]
chr7	GH07I027213	27213663	27213798	0.37	[{'connected_gene': 'ENSG00000253308', 'score': 11.77}, {'connected_gene': 'EVX1', 'score': 11.77}, {'connected_gene': 'EVX1-AS', 'score': 11.75}, {'connected_gene': 'HOXA11-AS', 'score': 11.72}, {'connected_gene': 'HOXA11', 'score': 11.72}, {'connected_gene': 'HOXA10', 'score': 11.71}, {'connected_gene': 'HOXA9', 'score': 11.69}, {'connected_gene': 'HOTAIRM1', 'score': 9.32}, {'connected_gene': 'HOXA1', 'score': 9.32}, {'connected_gene': 'ENSG00000277553', 'score': 0.44}]
chr7	GH07I027546	27546817	27548032	0.38	[{'connected_gene': 'ENSG00000253308', 'score': 9.69}, {'connected_gene': 'EVX1', 'score': 9.69}, {'connected_gene': 'EVX1-AS', 'score': 9.69}, {'connected_gene': 'HIBADH', 'score': 9.01}, {'connected_gene': 'PIR36003', 'score': 0.37}, {'connected_gene': 'TSL', 'score': 0.2}]
chr7	GH07I028034	28034762	28034911	0.73	[{'connected_gene': 'ENSG00000253308', 'score': 9.45}, {'connected_gene': 'EVX1', 'score': 9.45}, {'connected_gene': 'EVX1-AS', 'score': 9.45}, {'connected_gene': 'PIR54187', 'score': 0.77}, {'connected_gene': 'LOC105375208', 'score': 0.77}, {'connected_gene': 'JAZF1', 'score': 0.11}]
chr7	GH07I027242	27242723	27242782	0.76	[{'connected_gene': 'ENSG00000253308', 'score': 550.77}, {'connected_gene': 'EVX1', 'score': 550.77}, {'connected_gene': 'EVX1-AS', 'score': 0.77}]
chr7	GH07I028052	28052357	28056903	1.03	[{'connected_gene': 'GC07P028054', 'score': 550.77}, {'connected_gene': 'EVX1-AS', 'score': 9.11}, {'connected_gene': 'ENSG00000253308', 'score': 9.11}, {'connected_gene': 'EVX1', 'score': 9.11}, {'connected_gene': 'HIBADH', 'score': 1.42}, {'connected_gene': 'GC07P028046', 'score': 0.44}, {'connected_gene': 'LOC105375208', 'score': 0.37}, {'connected_gene': 'JAZF1', 'score': 0.13}]