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
ENST00000397002	[[24549315, 24550777], [24551676, 24552084], [24553728, 24553834]]	[[24550444, 24550777], [24551676, 24552057]]
ENST00000561028	[[24549375, 24550777], [24551676, 24552084], [24583930, 24584223]]	[[24550444, 24550777], [24551676, 24552057]]
ENST00000396997	[[24550085, 24550777], [24551676, 24552084], [24562393, 24562717], [24564246, 24564339]]	[[24550444, 24550777], [24551676, 24552057]]
ENST00000560550	[[24550208, 24550777], [24550976, 24551195]]	[[24550444, 24550741]]
ENST00000396995	[[24550216, 24550777], [24550888, 24551137]]	[[24550444, 24550741]]
ENST00000558280	[[24551862, 24552084], [24553728, 24553954], [24583930, 24584219]]	[[24551862, 24552057]]
NM_006177	[[24549315, 24550777], [24551676, 24552084], [24553728, 24553832]]	[[24550444, 24550777], [24551676, 24552057]]

Promoter

Chrom	Start	End	Description
chr14	24551143	24551178	CAGE_peak_6_at_NRL_5end
chr14	24551209	24551214	CAGE_peak_11_at_NRL_5end
chr14	24553835	24553850	CAGE_peak_1_at_NRL_5end
chr14	24553892	24553899	CAGE_peak_8_at_NRL_5end
chr14	24584138	24584192	CAGE_peak_2_at_NRL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I024106	24106201	24106400	0.69	[{'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.98}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'EMC9', 'score': 10.96}, {'connected_gene': 'PSME2', 'score': 10.81}, {'connected_gene': 'RNF31', 'score': 10.81}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024080	24080532	24082348	1.44	[{'connected_gene': 'CARMIL3', 'score': 12.89}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.35}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'REC8', 'score': 9.96}, {'connected_gene': 'EMC9', 'score': 9.21}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.29}]
chr14	GH14I024079	24079812	24079961	0.59	[{'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'EMC9', 'score': 9.13}, {'connected_gene': 'CPNE6', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'NRL', 'score': 0.28}]
chr14	GH14I024060	24060632	24062557	0.69	[{'connected_gene': 'PCK2', 'score': 11.66}, {'connected_gene': 'NRL', 'score': 11.6}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14	GH14I024058	24058392	24058541	0.88	[{'connected_gene': 'PCK2', 'score': 21.65}, {'connected_gene': 'NRL', 'score': 11.69}, {'connected_gene': 'PSME2', 'score': 10.33}, {'connected_gene': 'RNF31', 'score': 10.33}, {'connected_gene': 'CARMIL3', 'score': 0.44}, {'connected_gene': 'LOC105370412', 'score': 0.44}]
chr14	GH14I024091	24090400	24096893	2.51	[{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14	GH14I024108	24108116	24109600	1.19	[{'connected_gene': 'EMC9', 'score': 17.68}, {'connected_gene': 'CPNE6', 'score': 12.12}, {'connected_gene': 'CARMIL3', 'score': 11.97}, {'connected_gene': 'FITM1', 'score': 11.34}, {'connected_gene': 'PSME1', 'score': 11.31}, {'connected_gene': 'IRF9', 'score': 11.21}, {'connected_gene': 'PSME2', 'score': 10.83}, {'connected_gene': 'RNF31', 'score': 10.83}, {'connected_gene': 'TM9SF1', 'score': 10.34}, {'connected_gene': 'ENSG00000254692', 'score': 9.96}, {'connected_gene': 'CHMP4A', 'score': 9.96}, {'connected_gene': 'NRL', 'score': 0.44}, {'connected_gene': 'DCAF11', 'score': 0.44}, {'connected_gene': 'PCK2', 'score': 0.39}]
chr14	GH14I024109	24109941	24111410	0.9	[{'connected_gene': 'EMC9', 'score': 4.43}, {'connected_gene': 'NRL', 'score': 0.77}, {'connected_gene': 'DCAF11', 'score': 0.77}, {'connected_gene': 'PCK2', 'score': 0.37}]
chr14	GH14I024086	24086636	24086835	0.35	[{'connected_gene': 'NRL', 'score': 23.64}, {'connected_gene': 'CARMIL3', 'score': 12.73}, {'connected_gene': 'DCAF11', 'score': 11.4}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.02}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14	GH14I024084	24084624	24084683	0.5	[{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.44}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14	GH14I024083	24083616	24083675	0.79	[{'connected_gene': 'NRL', 'score': 550.29}, {'connected_gene': 'CARMIL3', 'score': 11.73}, {'connected_gene': 'PSME2', 'score': 10.67}, {'connected_gene': 'RNF31', 'score': 10.67}, {'connected_gene': 'IPO4', 'score': 10.0}, {'connected_gene': 'TM9SF1', 'score': 9.99}, {'connected_gene': 'REC8', 'score': 9.71}, {'connected_gene': 'PCK2', 'score': 0.39}, {'connected_gene': 'CPNE6', 'score': 0.39}]
chr14	GH14I024090	24090212	24090361	0.66	[{'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'CARMIL3', 'score': 11.34}, {'connected_gene': 'IRF9', 'score': 10.36}, {'connected_gene': 'IPO4', 'score': 10.03}, {'connected_gene': 'TM9SF1', 'score': 10.02}, {'connected_gene': 'TSSK4', 'score': 9.88}, {'connected_gene': 'PCK2', 'score': 0.77}, {'connected_gene': 'CPNE6', 'score': 0.37}]
chr14	GH14I024113	24113283	24116397	2.13	[{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14	GH14I024032	24032828	24033841	1.11	[{'connected_gene': 'DHRS4L2', 'score': 13.43}, {'connected_gene': 'DHRS4', 'score': 10.98}, {'connected_gene': 'PCK2', 'score': 10.93}, {'connected_gene': 'NRL', 'score': 10.9}, {'connected_gene': 'PIR58946', 'score': 0.77}, {'connected_gene': 'DHRS4L1', 'score': 0.31}]
chr14	GH14I024035	24035732	24037461	1.53	[{'connected_gene': 'PIR58946', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 21.66}, {'connected_gene': 'DHRS4L1', 'score': 19.2}, {'connected_gene': 'RNA5SP383', 'score': 15.87}, {'connected_gene': 'KHNYN', 'score': 15.64}, {'connected_gene': 'TM9SF1', 'score': 14.71}, {'connected_gene': 'C14orf119', 'score': 13.49}, {'connected_gene': 'LOC102724814', 'score': 12.71}, {'connected_gene': 'DHRS4L2', 'score': 12.67}, {'connected_gene': 'RNF31', 'score': 12.58}, {'connected_gene': 'TINF2', 'score': 12.3}, {'connected_gene': 'PABPN1', 'score': 11.78}, {'connected_gene': 'DHRS4', 'score': 11.75}, {'connected_gene': 'PCK2', 'score': 11.3}, {'connected_gene': 'NRL', 'score': 11.26}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'CIDEB', 'score': 9.77}, {'connected_gene': 'CDH24', 'score': 9.69}, {'connected_gene': 'DHRS4-AS1', 'score': 4.54}]