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
ENST00000557016	[[69846847, 69847357], [69853679, 69853800], [69861541, 69861629], [69864947, 69865344]]	[[69847254, 69847357], [69853679, 69853800], [69861541, 69861629], [69864947, 69864950]]
ENST00000216520	[[69846851, 69847357], [69853679, 69853800], [69864947, 69864988]]	None
ENST00000557697	[[69847292, 69847357], [69861541, 69861643]]	None
ENST00000555373	[[69853371, 69853800], [69861541, 69861629], [69864947, 69865016]]	[[69853675, 69853800], [69861541, 69861629], [69864947, 69864950]]
NM_004450	[[69846839, 69847357], [69853679, 69853800], [69861541, 69861629], [69864947, 69865021]]	[[69847254, 69847357], [69853679, 69853800], [69861541, 69861629], [69864947, 69864950]]

Promoter

Chrom	Start	End	Description
chr14	69864973	69864987	CAGE_peak_2_at_ERH_5end
chr14	69864993	69865056	CAGE_peak_1_at_ERH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I069464	69464194	69465705	0.46	[{'connected_gene': 'GALNT16', 'score': 20.93}, {'connected_gene': 'SLC39A9', 'score': 10.88}, {'connected_gene': 'ERH', 'score': 10.88}, {'connected_gene': 'SRSF5', 'score': 9.82}, {'connected_gene': 'SMOC1', 'score': 4.69}, {'connected_gene': 'PLEKHD1', 'score': 0.37}]
chr14	GH14I069423	69423921	69425119	0.67	[{'connected_gene': 'GALNT16', 'score': 20.45}, {'connected_gene': 'SLC39A9', 'score': 11.72}, {'connected_gene': 'ERH', 'score': 11.72}, {'connected_gene': 'PLEKHD1', 'score': 0.21}]
chr14	GH14I069715	69715602	69720599	1.53	[{'connected_gene': 'SRSF5', 'score': 69.36}, {'connected_gene': 'EXD2', 'score': 29.96}, {'connected_gene': 'ADAM21', 'score': 26.0}, {'connected_gene': 'ERH', 'score': 14.3}, {'connected_gene': 'SUSD6', 'score': 12.97}, {'connected_gene': 'ADAM20', 'score': 10.26}, {'connected_gene': 'ADAM20P1', 'score': 10.24}, {'connected_gene': 'ENSG00000258957', 'score': 9.74}, {'connected_gene': 'PIR54293', 'score': 0.44}]
chr14	GH14I068824	68824316	68825277	1.42	[{'connected_gene': 'SRSF5', 'score': 19.68}, {'connected_gene': 'ERH', 'score': 9.68}, {'connected_gene': 'GC14P068845', 'score': 0.34}, {'connected_gene': 'ZFP36L1', 'score': 0.31}, {'connected_gene': 'GC14M068442', 'score': 0.16}]
chr14	GH14I069995	69995039	70001691	1.69	[{'connected_gene': 'SMOC1', 'score': 24.83}, {'connected_gene': 'MED6', 'score': 12.34}, {'connected_gene': 'ADAM20', 'score': 11.6}, {'connected_gene': 'SRSF5', 'score': 11.53}, {'connected_gene': 'DCAF5', 'score': 11.25}, {'connected_gene': 'ERH', 'score': 10.96}, {'connected_gene': 'SLC10A1', 'score': 10.34}, {'connected_gene': 'TTC9', 'score': 4.64}, {'connected_gene': 'GC14M069988', 'score': 0.44}, {'connected_gene': 'GC14M070040', 'score': 0.26}]
chr14	GH14I069571	69571448	69575049	1.53	[{'connected_gene': 'CCDC177', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 25.01}, {'connected_gene': 'SUSD6', 'score': 19.36}, {'connected_gene': 'ERH', 'score': 10.65}, {'connected_gene': 'SLC10A1', 'score': 9.97}, {'connected_gene': 'GC14M069570', 'score': 0.77}]
chr14	GH14I069439	69439601	69440400	0.46	[{'connected_gene': 'SLC39A9', 'score': 15.98}, {'connected_gene': 'GALNT16', 'score': 10.08}, {'connected_gene': 'PLEKHD1', 'score': 0.26}, {'connected_gene': 'ERH', 'score': 0.26}]
chr14	GH14I069446	69446871	69447119	0.22	[{'connected_gene': 'SLC39A9', 'score': 18.96}, {'connected_gene': 'ERH', 'score': 11.06}, {'connected_gene': 'GALNT16', 'score': 10.7}, {'connected_gene': 'PLEKHD1', 'score': 0.28}]
chr14	GH14I069402	69401800	69402001	0.68	[{'connected_gene': 'SLC39A9', 'score': 0.77}, {'connected_gene': 'ERH', 'score': 0.77}, {'connected_gene': 'PLEKHD1', 'score': 0.18}]
chr14	GH14I069343	69343144	69343153	0.52	[{'connected_gene': 'SLC39A9', 'score': 11.6}, {'connected_gene': 'ERH', 'score': 11.59}, {'connected_gene': 'ENSG00000280073', 'score': 0.39}, {'connected_gene': 'LOC105370549', 'score': 0.26}, {'connected_gene': 'GALNT16', 'score': 0.18}]
chr14	GH14I069346	69346824	69346973	0.52	[{'connected_gene': 'SLC39A9', 'score': 11.6}, {'connected_gene': 'ERH', 'score': 11.6}, {'connected_gene': 'ENSG00000280073', 'score': 0.39}, {'connected_gene': 'LOC105370549', 'score': 0.25}, {'connected_gene': 'GALNT16', 'score': 0.17}]
chr14	GH14I069190	69190864	69192611	2.09	[{'connected_gene': 'EXD2', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 22.63}, {'connected_gene': 'DCAF5', 'score': 15.51}, {'connected_gene': 'ERH', 'score': 15.34}, {'connected_gene': 'DDX18P1', 'score': 11.33}, {'connected_gene': 'ENSG00000258957', 'score': 0.34}, {'connected_gene': 'LOC105370550', 'score': 0.2}]
chr14	GH14I070358	70358400	70360400	2.14	[{'connected_gene': 'COX16', 'score': 570.72}, {'connected_gene': 'RNU2-51P', 'score': 550.77}, {'connected_gene': 'GC14P070361', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 113.42}, {'connected_gene': 'MED6', 'score': 38.2}, {'connected_gene': 'SUSD6', 'score': 28.57}, {'connected_gene': 'RPL7AP6', 'score': 20.47}, {'connected_gene': 'ADAM20P1', 'score': 19.59}, {'connected_gene': 'PTTG4P', 'score': 11.18}, {'connected_gene': 'ERH', 'score': 10.02}, {'connected_gene': 'SLC8A3', 'score': 5.66}, {'connected_gene': 'PIR53064', 'score': 0.39}, {'connected_gene': 'GC14M070313', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.22}]
chr14	GH14I069460	69460184	69460393	0.76	[{'connected_gene': 'PLEKHD1', 'score': 11.75}, {'connected_gene': 'GALNT16', 'score': 11.47}, {'connected_gene': 'SLC39A9', 'score': 10.88}, {'connected_gene': 'ERH', 'score': 10.88}]
chr14	GH14I069483	69483591	69485402	1.29	[{'connected_gene': 'PLEKHD1', 'score': 556.72}, {'connected_gene': 'GALNT16', 'score': 8.24}, {'connected_gene': 'ERH', 'score': 0.17}]
chr14	GH14I069887	69887004	69887153	0.46	[{'connected_gene': 'RPL7AP6', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 19.75}, {'connected_gene': 'SMOC1', 'score': 11.2}, {'connected_gene': 'SLC10A1', 'score': 10.14}, {'connected_gene': 'ERH', 'score': 9.7}, {'connected_gene': 'GC14M069988', 'score': 0.14}]
chr14	GH14I069986	69986456	69988512	0.51	[{'connected_gene': 'ADAM20P1', 'score': 10.99}, {'connected_gene': 'ERH', 'score': 10.03}, {'connected_gene': 'SMOC1', 'score': 8.35}, {'connected_gene': 'GC14M069988', 'score': 0.77}, {'connected_gene': 'RPL7AP6', 'score': 0.15}]
chr14	GH14I069401	69401400	69401601	0.61	[{'connected_gene': 'ERH', 'score': 16.03}, {'connected_gene': 'SRSF5', 'score': 10.6}, {'connected_gene': 'GALNT16', 'score': 9.57}, {'connected_gene': 'SLC39A9', 'score': 0.77}, {'connected_gene': 'PLEKHD1', 'score': 0.18}]
chr14	GH14I069267	69267195	69269774	0.89	[{'connected_gene': 'ERH', 'score': 24.56}, {'connected_gene': 'SRSF5', 'score': 23.51}, {'connected_gene': 'RPL7AP6', 'score': 14.93}, {'connected_gene': 'DDX18P1', 'score': 12.83}, {'connected_gene': 'SUSD6', 'score': 12.23}, {'connected_gene': 'DCAF5', 'score': 10.88}, {'connected_gene': 'EXD2', 'score': 10.54}, {'connected_gene': 'SLC39A9', 'score': 10.33}, {'connected_gene': 'GALNT16', 'score': 9.34}, {'connected_gene': 'ACTN1', 'score': 4.64}, {'connected_gene': 'ENSG00000258520', 'score': 0.44}, {'connected_gene': 'GC14M069298', 'score': 0.29}]
chr14	GH14I069396	69396660	69401201	2.07	[{'connected_gene': 'ERH', 'score': 566.03}, {'connected_gene': 'SLC39A9', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 51.7}, {'connected_gene': 'DDX18P1', 'score': 19.5}, {'connected_gene': 'DCAF5', 'score': 15.3}, {'connected_gene': 'RPL7AP6', 'score': 10.2}, {'connected_gene': 'GALNT16', 'score': 10.09}, {'connected_gene': 'PLEKHD1', 'score': 6.01}]
chr14	GH14I068719	68719471	68720476	0.93	[{'connected_gene': 'ERH', 'score': 4.24}, {'connected_gene': 'RNU6-921P', 'score': 0.37}, {'connected_gene': 'GC14M068736', 'score': 0.37}, {'connected_gene': 'GC14P068694', 'score': 0.31}, {'connected_gene': 'GC14M068442', 'score': 0.08}, {'connected_gene': 'RAD51B', 'score': 0.02}]
chr14	GH14I068662	68661755	68673145	1.28	[{'connected_gene': 'RNU6-921P', 'score': 10.65}, {'connected_gene': 'ERH', 'score': 4.34}, {'connected_gene': 'ENSG00000258623', 'score': 0.37}, {'connected_gene': 'LOC100996664', 'score': 0.37}, {'connected_gene': 'GC14P068562', 'score': 0.14}, {'connected_gene': 'GC14M068442', 'score': 0.07}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14	GH14I069298	69298884	69299033	0.31	[{'connected_gene': 'LOC105370549', 'score': 550.77}, {'connected_gene': 'GC14M069298', 'score': 550.77}, {'connected_gene': 'GALNT16', 'score': 17.06}, {'connected_gene': 'SLC39A9', 'score': 10.24}, {'connected_gene': 'ERH', 'score': 10.24}]
chr14	GH14I068618	68618636	68635146	1.38	[{'connected_gene': 'LOC100996664', 'score': 5.54}, {'connected_gene': 'ERH', 'score': 5.09}, {'connected_gene': 'ENSG00000258623', 'score': 0.22}, {'connected_gene': 'GC14P068562', 'score': 0.21}, {'connected_gene': 'GC14M068442', 'score': 0.06}, {'connected_gene': 'RAD51B', 'score': 0.03}]
chr14	GH14I068610	68610157	68613445	1.24	[{'connected_gene': 'LOC100996664', 'score': 5.63}, {'connected_gene': 'ERH', 'score': 4.52}, {'connected_gene': 'GC14P068562', 'score': 0.25}, {'connected_gene': 'ENSG00000258623', 'score': 0.19}, {'connected_gene': 'GC14M068442', 'score': 0.06}, {'connected_gene': 'RAD51B', 'score': 0.03}]