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
ENST00000233596	[[1491164, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1497172, 1497926]]	[[1491268, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1497172, 1497210]]
ENST00000591735	[[1491191, 1491383], [1495292, 1495386], [1495467, 1496180]]	None
ENST00000395479	[[1495361, 1495386], [1495467, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497369]]	[[1495361, 1495386], [1495467, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497210]]
ENST00000395484	[[1495474, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497321], [1497640, 1497720]]	[[1495474, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497210]]
NM_138393	[[1491003, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1497172, 1497924]]	[[1491268, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1497172, 1497210]]
NM_001329556	[[1491003, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497924]]	[[1491268, 1491383], [1495292, 1495386], [1495467, 1495606], [1496283, 1496452], [1496589, 1496670], [1497172, 1497210]]

Promoter

Chrom	Start	End	Description
chr19	1491014	1491037	CAGE_peak_2_at_REEP6_5end
chr19	1491038	1491049	CAGE_peak_3_at_REEP6_5end
chr19	1491144	1491223	CAGE_peak_1_at_REEP6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001500	1500886	1502012	0.85	[{'connected_gene': 'REEP6', 'score': 11.21}, {'connected_gene': 'ENSG00000267092', 'score': 0.44}, {'connected_gene': 'PCSK4', 'score': 0.39}]
chr19	GH19I001502	1502973	1504456	1.39	[{'connected_gene': 'REEP6', 'score': 9.55}, {'connected_gene': 'PCSK4', 'score': 9.17}, {'connected_gene': 'ENSG00000267092', 'score': 0.77}]
chr19	GH19I001442	1442711	1446201	1.99	[{'connected_gene': 'APC2', 'score': 574.24}, {'connected_gene': 'SF3A2', 'score': 13.08}, {'connected_gene': 'C19orf24', 'score': 12.96}, {'connected_gene': 'DAZAP1', 'score': 12.42}, {'connected_gene': 'C19orf25', 'score': 12.23}, {'connected_gene': 'REEP6', 'score': 12.2}, {'connected_gene': 'PCSK4', 'score': 12.2}, {'connected_gene': 'SCAMP4', 'score': 11.27}, {'connected_gene': 'MUM1', 'score': 7.09}, {'connected_gene': 'CBARP', 'score': 4.48}, {'connected_gene': 'EFNA2', 'score': 3.18}, {'connected_gene': 'ENSG00000268798', 'score': 0.77}]
chr19	GH19I001496	1496801	1497000	0.66	[{'connected_gene': 'PCSK4', 'score': 15.89}, {'connected_gene': 'REEP6', 'score': 0.44}, {'connected_gene': 'ENSG00000267092', 'score': 0.39}]
chr19	GH19I001497	1497161	1498534	0.56	[{'connected_gene': 'PCSK4', 'score': 15.57}, {'connected_gene': 'REEP6', 'score': 11.8}, {'connected_gene': 'ENSG00000267092', 'score': 0.39}]
chr19	GH19I001489	1489433	1495179	2.46	[{'connected_gene': 'PCSK4', 'score': 568.52}, {'connected_gene': 'REEP6', 'score': 559.36}, {'connected_gene': 'ENSG00000267092', 'score': 0.37}]
chr19	GH19I001506	1506858	1514348	2.46	[{'connected_gene': 'ADAMTSL5', 'score': 555.54}, {'connected_gene': 'DAZAP1', 'score': 16.72}, {'connected_gene': 'LOC100288123', 'score': 15.8}, {'connected_gene': 'STK11', 'score': 15.23}, {'connected_gene': 'SF3A2', 'score': 13.51}, {'connected_gene': 'TCF3', 'score': 13.39}, {'connected_gene': 'POLRMT', 'score': 13.18}, {'connected_gene': 'DOT1L', 'score': 12.96}, {'connected_gene': 'ATP8B3', 'score': 11.29}, {'connected_gene': 'REEP6', 'score': 6.24}, {'connected_gene': 'ENSG00000261526', 'score': 5.13}, {'connected_gene': 'ENSG00000267092', 'score': 0.77}]
chr19	GH19I001283	1283286	1285782	1.15	[{'connected_gene': 'EFNA2', 'score': 562.92}, {'connected_gene': 'C19orf24', 'score': 12.62}, {'connected_gene': 'REEP6', 'score': 5.0}, {'connected_gene': 'GAMT', 'score': 1.28}, {'connected_gene': 'ONECUT3', 'score': 1.17}]
chr19	GH19I001546	1546262	1546411	0.86	[{'connected_gene': 'ATP8B3', 'score': 11.92}, {'connected_gene': 'REXO1', 'score': 11.91}, {'connected_gene': 'TCF3', 'score': 11.84}, {'connected_gene': 'REEP6', 'score': 11.6}, {'connected_gene': 'PCSK4', 'score': 11.6}, {'connected_gene': 'C19orf25', 'score': 11.58}, {'connected_gene': 'RNU6-1223P', 'score': 11.53}, {'connected_gene': 'DAZAP1', 'score': 10.88}, {'connected_gene': 'ENSG00000248015', 'score': 10.87}, {'connected_gene': 'GAMT', 'score': 10.87}, {'connected_gene': 'GC19M001551', 'score': 0.77}, {'connected_gene': 'PLK5', 'score': 0.34}]
chr19	GH19I001478	1478122	1480101	2.07	[{'connected_gene': 'C19orf25', 'score': 550.77}, {'connected_gene': 'REEP6', 'score': 8.44}, {'connected_gene': 'PIR35020', 'score': 0.77}]
chr19	GH19I001464	1464955	1475420	1.31	[{'connected_gene': 'CIRBP', 'score': 14.6}, {'connected_gene': 'RPS15', 'score': 12.76}, {'connected_gene': 'REXO1', 'score': 11.15}, {'connected_gene': 'ATP8B3', 'score': 11.15}, {'connected_gene': 'TCF3', 'score': 11.04}, {'connected_gene': 'REEP6', 'score': 7.45}, {'connected_gene': 'C19orf25', 'score': 5.87}, {'connected_gene': 'PIR35020', 'score': 0.77}, {'connected_gene': 'ENSG00000267317', 'score': 0.39}, {'connected_gene': 'APC2', 'score': 0.34}]
chr19	GH19I001441	1441910	1442520	0.92	[{'connected_gene': 'ENSG00000268798', 'score': 550.77}, {'connected_gene': 'C19orf25', 'score': 12.23}, {'connected_gene': 'PCSK4', 'score': 12.2}, {'connected_gene': 'REEP6', 'score': 12.2}, {'connected_gene': 'APC2', 'score': 0.77}]