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
ENST00000319550	[[116422011, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116542216, 116542391], [116544196, 116544294], [116558128, 116558247], [116559349, 116559511], [116560117, 116560286], [116565071, 116570660]]	[[116422093, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116542216, 116542391], [116544196, 116544294], [116558128, 116558247], [116559349, 116559511], [116560117, 116560286], [116565071, 116565187]]
ENST00000460749	[[116439081, 116439108], [116542240, 116542391], [116544196, 116544294], [116558128, 116558247], [116558621, 116558802], [116559349, 116559511], [116560117, 116560286]]	[[116439081, 116439108], [116542240, 116542391], [116544196, 116544294], [116558128, 116558247], [116558621, 116558651]]
ENST00000419791	[[116422013, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116466600, 116466658]]	[[116422093, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116466600, 116466658]]
ENST00000417846	[[116432014, 116432119], [116436853, 116436933], [116439023, 116439255]]	[[116432014, 116432119], [116436853, 116436933], [116439023, 116439173]]
NM_152729	[[116421998, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116542216, 116542391], [116544196, 116544294], [116558128, 116558247], [116559349, 116559511], [116560117, 116560286], [116565071, 116566853]]	[[116422093, 116422186], [116427406, 116427498], [116429526, 116429598], [116432012, 116432119], [116436853, 116436933], [116439023, 116439108], [116542216, 116542391], [116544196, 116544294], [116558128, 116558247], [116559349, 116559511], [116560117, 116560286], [116565071, 116565187]]

Promoter

Chrom	Start	End	Description
chr6	116421976	116422054	CAGE_peak_1_at_NT5DC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I116228	116228945	116230024	1.11	[{'connected_gene': 'DSE', 'score': 19.51}, {'connected_gene': 'TSPYL4', 'score': 18.06}, {'connected_gene': 'KPNA5', 'score': 2.9}, {'connected_gene': 'TSPYL1', 'score': 2.72}, {'connected_gene': 'PIR35709', 'score': 0.77}, {'connected_gene': 'GC06P116233', 'score': 0.77}, {'connected_gene': 'GC06P116234', 'score': 0.77}, {'connected_gene': 'COL10A1', 'score': 0.39}, {'connected_gene': 'NT5DC1', 'score': 0.13}]
chr6	GH06I116210	116210498	116211376	0.59	[{'connected_gene': 'DSE', 'score': 11.56}, {'connected_gene': 'TSPYL4', 'score': 6.62}, {'connected_gene': 'COL10A1', 'score': 0.44}, {'connected_gene': 'GC06M116148', 'score': 0.44}, {'connected_gene': 'NT5DC1', 'score': 0.14}]
chr6	GH06I116145	116145747	116146547	0.54	[{'connected_gene': 'DSE', 'score': 11.5}, {'connected_gene': 'NIP7P3', 'score': 0.44}, {'connected_gene': 'GC06M116178', 'score': 0.29}, {'connected_gene': 'NT5DC1', 'score': 0.25}, {'connected_gene': 'COL10A1', 'score': 0.19}]
chr6	GH06I116015	116015111	116018403	0.94	[{'connected_gene': 'FRK', 'score': 28.85}, {'connected_gene': 'NT5DC1', 'score': 16.42}, {'connected_gene': 'CALHM6', 'score': 5.81}, {'connected_gene': 'TPI1P3', 'score': 0.34}, {'connected_gene': 'PIR54414', 'score': 0.28}]
chr6	GH06I115947	115947503	115949139	0.62	[{'connected_gene': 'FRK', 'score': 11.43}, {'connected_gene': 'NT5DC1', 'score': 4.75}, {'connected_gene': 'GC06P115977', 'score': 0.31}, {'connected_gene': 'PIR60846', 'score': 0.08}]
chr6	GH06I116058	116058901	116062227	2.11	[{'connected_gene': 'FRK', 'score': 569.54}, {'connected_gene': 'NT5DC1', 'score': 6.52}, {'connected_gene': 'GC06M116052', 'score': 0.77}, {'connected_gene': 'GC06M116078', 'score': 0.37}]
chr6	GH06I116086	116086978	116088310	0.75	[{'connected_gene': 'FRK', 'score': 13.22}, {'connected_gene': 'NT5DC1', 'score': 9.77}, {'connected_gene': 'GC06M116078', 'score': 0.44}]
chr6	GH06I116105	116105358	116107267	0.94	[{'connected_gene': 'TSPYL4', 'score': 9.42}, {'connected_gene': 'TSPYL1', 'score': 5.65}, {'connected_gene': 'NT5DC1', 'score': 0.44}, {'connected_gene': 'NIP7P3', 'score': 0.29}]
chr6	GH06I116155	116155750	116155821	0.35	[{'connected_gene': 'TSPYL4', 'score': 1.41}, {'connected_gene': 'NIP7P3', 'score': 0.37}, {'connected_gene': 'GC06M116178', 'score': 0.34}, {'connected_gene': 'GC06M116148', 'score': 0.25}, {'connected_gene': 'NT5DC1', 'score': 0.23}, {'connected_gene': 'COL10A1', 'score': 0.21}]
chr6	GH06I116144	116144411	116145722	0.58	[{'connected_gene': 'TSPYL4', 'score': 4.88}, {'connected_gene': 'NIP7P3', 'score': 0.44}, {'connected_gene': 'GC06M116178', 'score': 0.29}, {'connected_gene': 'NT5DC1', 'score': 0.26}, {'connected_gene': 'COL10A1', 'score': 0.19}]
chr6	GH06I116098	116098293	116103007	2.27	[{'connected_gene': 'NT5DC1', 'score': 564.45}, {'connected_gene': 'FRK', 'score': 550.77}, {'connected_gene': 'KPNA5', 'score': 43.72}, {'connected_gene': 'COL10A1', 'score': 11.09}, {'connected_gene': 'TSPYL4', 'score': 9.63}, {'connected_gene': 'GC06M116078', 'score': 0.34}]
chr6	GH06I116112	116112058	116112167	0.59	[{'connected_gene': 'NT5DC1', 'score': 7.86}, {'connected_gene': 'NIP7P3', 'score': 0.31}]
chr6	GH06I116103	116103511	116103754	0.2	[{'connected_gene': 'NT5DC1', 'score': 7.52}, {'connected_gene': 'NIP7P3', 'score': 0.29}]
chr6	GH06I116217	116217118	116217267	0.65	[{'connected_gene': 'COL10A1', 'score': 550.77}, {'connected_gene': 'GC06M116148', 'score': 0.37}, {'connected_gene': 'NT5DC1', 'score': 0.13}]
chr6	GH06I116126	116126122	116126181	0.5	[{'connected_gene': 'COL10A1', 'score': 550.16}, {'connected_gene': 'NIP7P3', 'score': 0.39}, {'connected_gene': 'NT5DC1', 'score': 0.31}]
chr6	GH06I116148	116148205	116148235	0.22	[{'connected_gene': 'NIP7P3', 'score': 0.39}, {'connected_gene': 'GC06M116178', 'score': 0.29}, {'connected_gene': 'NT5DC1', 'score': 0.25}, {'connected_gene': 'GC06M116148', 'score': 0.23}, {'connected_gene': 'COL10A1', 'score': 0.2}]
chr6	GH06I116247	116247358	116247507	0.77	[{'connected_gene': 'ENSG00000236326', 'score': 0.77}, {'connected_gene': 'GC06M116250', 'score': 0.77}, {'connected_gene': 'NT5DC1', 'score': 0.11}]
chr6	GH06I116190	116190698	116190847	0.38	[{'connected_gene': 'GC06M116178', 'score': 0.39}, {'connected_gene': 'GC06M116148', 'score': 0.39}, {'connected_gene': 'COL10A1', 'score': 0.31}, {'connected_gene': 'NT5DC1', 'score': 0.17}]