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
ENST00000466380	[[119499330, 119501147], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531643, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119526097, 119526294], [119528907, 119529041], [119530385, 119530573], [119531643, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]
ENST00000393716	[[119499330, 119501147], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119526097, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]
ENST00000474090	[[119500881, 119501147], [119526075, 119526294], [119528907, 119529399]]	None
ENST00000337940	[[119501556, 119501699], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119501604, 119501699], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]
ENST00000493757	[[119529922, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537331]]	None
NM_033013	[[119499330, 119501147], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531643, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119526097, 119526294], [119528907, 119529041], [119530385, 119530573], [119531643, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]
NM_003889	[[119499330, 119501147], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119526097, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]
NM_022002	[[119501556, 119501699], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119537332]]	[[119501604, 119501699], [119526075, 119526294], [119528907, 119529041], [119530385, 119530573], [119531532, 119531807], [119533825, 119533968], [119534169, 119534286], [119534572, 119534678], [119535914, 119536059]]

Promoter

Chrom	Start	End	Description
chr3	119500858	119500867	CAGE_peak_8_at_NR1I2_5end
chr3	119500874	119500885	CAGE_peak_5_at_NR1I2_5end
chr3	119500891	119500904	CAGE_peak_2_at_NR1I2_5end
chr3	119500908	119500919	CAGE_peak_3_at_NR1I2_5end
chr3	119500941	119500961	CAGE_peak_1_at_NR1I2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119794	119794331	119797766	1.64	[{'connected_gene': 'MAATS1', 'score': 15.99}, {'connected_gene': 'ENSG00000239994', 'score': 10.39}, {'connected_gene': 'NR1I2', 'score': 6.73}, {'connected_gene': 'ARHGAP31', 'score': 4.85}, {'connected_gene': 'PHBP8', 'score': 0.77}, {'connected_gene': 'GC03P119973', 'score': 0.1}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119715	119715720	119718227	0.98	[{'connected_gene': 'MAATS1', 'score': 33.23}, {'connected_gene': 'ENSG00000239994', 'score': 12.33}, {'connected_gene': 'RPL10P7', 'score': 6.35}, {'connected_gene': 'PLA1A', 'score': 5.23}, {'connected_gene': 'LRRC58', 'score': 4.49}, {'connected_gene': 'NR1I2', 'score': 2.66}]
chr3	GH03I119786	119786166	119787290	0.84	[{'connected_gene': 'MAATS1', 'score': 18.24}, {'connected_gene': 'ENSG00000239994', 'score': 11.14}, {'connected_gene': 'RPL10P7', 'score': 6.02}, {'connected_gene': 'PHBP8', 'score': 0.44}, {'connected_gene': 'NR1I2', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119788	119788582	119790114	0.2	[{'connected_gene': 'MAATS1', 'score': 5.72}, {'connected_gene': 'PHBP8', 'score': 0.77}, {'connected_gene': 'NR1I2', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119779	119779889	119783931	1.46	[{'connected_gene': 'NR1I2', 'score': 550.77}, {'connected_gene': 'MAATS1', 'score': 16.37}, {'connected_gene': 'ENSG00000239994', 'score': 10.53}, {'connected_gene': 'PHBP8', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119778	119778494	119779733	0.52	[{'connected_gene': 'NR1I2', 'score': 550.77}, {'connected_gene': 'PIR58327', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119423	119423450	119423733	0.23	[{'connected_gene': 'ARHGAP31', 'score': 6.7}, {'connected_gene': 'ADPRH', 'score': 3.16}, {'connected_gene': 'NR1I2', 'score': 1.31}, {'connected_gene': 'GC03P119428', 'score': 0.77}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}]
chr3	GH03I119652	119651068	119651376	0.61	[{'connected_gene': 'RPL10P7', 'score': 15.02}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 7.26}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3	GH03I119809	119809272	119810800	0.95	[{'connected_gene': 'GSK3B', 'score': 8.47}, {'connected_gene': 'PHBP8', 'score': 0.37}, {'connected_gene': 'NR1I2', 'score': 0.31}, {'connected_gene': 'GC03P119973', 'score': 0.1}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119649	119649987	119650358	0.75	[{'connected_gene': 'ADPRH', 'score': 17.06}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 1.72}, {'connected_gene': 'RPL10P7', 'score': 0.39}, {'connected_gene': 'POPDC2', 'score': 0.37}]