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
ENST00000447255	[[55417507, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424239]]
ENST00000291890	[[55417507, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424441]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]
ENST00000601903	[[55417512, 55417579], [55417656, 55418136]]	None
ENST00000601137	[[55417512, 55417692], [55417880, 55418165], [55420603, 55420706]]	None
ENST00000598576	[[55417513, 55417579], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424327]]	[[55417545, 55417579], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424239]]
ENST00000594765	[[55417520, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424523], [55427117, 55427508]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424239]]
ENST00000350790	[[55417538, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424341]]	[[55417545, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]
ENST00000338835	[[55417538, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55424057, 55424341]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55424057, 55424239]]
ENST00000357397	[[55417545, 55417579], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]	[[55417545, 55417579], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]
NM_001242357	[[55417507, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55424057, 55424239]]
NM_001242356	[[55417507, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]
NM_001145458	[[55417507, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55424057, 55424239]]
NM_001145457	[[55417507, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423538, 55423586], [55424057, 55424239]]
NM_004829	[[55417507, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424439]]	[[55417545, 55417579], [55417656, 55417692], [55417880, 55418165], [55420603, 55420882], [55421377, 55421425], [55423535, 55423586], [55424057, 55424239]]

Promoter

Chrom	Start	End	Description
chr19	55417469	55417480	CAGE_peak_2_at_NCR1_5end
chr19	55417499	55417521	CAGE_peak_1_at_NCR1_5end
chr19	55417530	55417537	CAGE_peak_3_at_NCR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I054905	54905067	54907042	1.55	[{'connected_gene': 'NCR1', 'score': 559.68}, {'connected_gene': 'KIR3DL2', 'score': 5.67}, {'connected_gene': 'ENSG00000275012', 'score': 0.26}]
chr19	GH19I054916	54916993	54917400	0.72	[{'connected_gene': 'NCR1', 'score': 0.39}, {'connected_gene': 'ENSG00000275012', 'score': 0.29}]
chr19	GH19I055337	55337821	55341834	2.6	[{'connected_gene': 'KMT5C', 'score': 565.02}, {'connected_gene': 'ENSG00000276831', 'score': 550.77}, {'connected_gene': 'LENG8-AS1', 'score': 53.46}, {'connected_gene': 'U2AF2', 'score': 52.85}, {'connected_gene': 'LENG8', 'score': 45.74}, {'connected_gene': 'ZNF628', 'score': 42.8}, {'connected_gene': 'ENSG00000235681', 'score': 42.75}, {'connected_gene': 'ENSG00000267523', 'score': 26.24}, {'connected_gene': 'ENSG00000267096', 'score': 18.78}, {'connected_gene': 'FAM71E2', 'score': 17.96}, {'connected_gene': 'SSC5D', 'score': 16.87}, {'connected_gene': 'PPP6R1', 'score': 14.19}, {'connected_gene': 'ZNF581', 'score': 13.9}, {'connected_gene': 'LOC729999', 'score': 12.83}, {'connected_gene': 'TMEM238', 'score': 12.76}, {'connected_gene': 'IL11', 'score': 12.48}, {'connected_gene': 'TMEM190', 'score': 12.46}, {'connected_gene': 'ENSG00000267838', 'score': 12.31}, {'connected_gene': 'LOC105372468', 'score': 12.17}, {'connected_gene': 'RPL28', 'score': 11.53}, {'connected_gene': 'BRSK1', 'score': 11.26}, {'connected_gene': 'UBE2S', 'score': 11.19}, {'connected_gene': 'HSPBP1', 'score': 11.1}, {'connected_gene': 'FIZ1', 'score': 10.96}, {'connected_gene': 'TMEM86B', 'score': 10.82}, {'connected_gene': 'ZNF784', 'score': 10.7}, {'connected_gene': 'ZNF580', 'score': 10.38}, {'connected_gene': 'VN2R17P', 'score': 10.11}, {'connected_gene': 'ENSG00000269873', 'score': 9.86}, {'connected_gene': 'KIR3DL2', 'score': 9.43}, {'connected_gene': 'NCR1', 'score': 8.81}, {'connected_gene': 'EPN1', 'score': 1.98}, {'connected_gene': 'PPP1R12C', 'score': 1.57}, {'connected_gene': 'ZNF865', 'score': 1.55}, {'connected_gene': 'GC19M055356', 'score': 0.39}, {'connected_gene': 'PIR35985', 'score': 0.39}]
chr19	GH19I054943	54943589	54944966	0.78	[{'connected_gene': 'NLRP2', 'score': 7.77}, {'connected_gene': 'ENSG00000275012', 'score': 0.77}, {'connected_gene': 'NLRP7', 'score': 0.31}, {'connected_gene': 'NCR1', 'score': 0.28}]
chr19	GH19I055111	55111383	55119382	2.6	[{'connected_gene': 'PPP1R12C', 'score': 559.4}, {'connected_gene': 'GC19M055111', 'score': 550.77}, {'connected_gene': 'EPS8L1', 'score': 29.6}, {'connected_gene': 'RDH13', 'score': 29.2}, {'connected_gene': 'U2AF2', 'score': 18.02}, {'connected_gene': 'LENG8-AS1', 'score': 17.44}, {'connected_gene': 'LENG8', 'score': 16.94}, {'connected_gene': 'ENSG00000235681', 'score': 14.74}, {'connected_gene': 'CNOT3', 'score': 13.18}, {'connected_gene': 'ENSG00000267523', 'score': 13.16}, {'connected_gene': 'ZNF580', 'score': 11.46}, {'connected_gene': 'KMT5C', 'score': 11.38}, {'connected_gene': 'TNNT1', 'score': 11.21}, {'connected_gene': 'ENSG00000267838', 'score': 10.61}, {'connected_gene': 'TMEM238', 'score': 9.55}, {'connected_gene': 'RPL28', 'score': 9.55}, {'connected_gene': 'ZNF865', 'score': 5.86}, {'connected_gene': 'SHISA7', 'score': 3.63}, {'connected_gene': 'PPP6R1', 'score': 3.42}, {'connected_gene': 'FCAR', 'score': 2.94}, {'connected_gene': 'LILRB1', 'score': 2.8}, {'connected_gene': 'TMEM150B', 'score': 1.92}, {'connected_gene': 'GP6', 'score': 1.83}, {'connected_gene': 'TMEM86B', 'score': 1.49}, {'connected_gene': 'LILRB4', 'score': 1.44}, {'connected_gene': 'NCR1', 'score': 1.37}, {'connected_gene': 'ENSG00000267507', 'score': 0.44}]
chr19	GH19I054893	54893138	54894437	0.43	[{'connected_gene': 'KIR2DS4', 'score': 11.87}, {'connected_gene': 'RDH13', 'score': 11.0}, {'connected_gene': 'EPS8L1', 'score': 11.0}, {'connected_gene': 'NCR1', 'score': 8.3}, {'connected_gene': 'KIR3DL2', 'score': 5.5}, {'connected_gene': 'PIR47082', 'score': 0.77}, {'connected_gene': 'ENSG00000268734', 'score': 0.77}]
chr19	GH19I055275	55275707	55277925	0.99	[{'connected_gene': 'HSPBP1', 'score': 17.45}, {'connected_gene': 'KIR3DL2', 'score': 4.31}, {'connected_gene': 'KIR2DS4', 'score': 3.69}, {'connected_gene': 'ZNF628', 'score': 3.16}, {'connected_gene': 'NCR1', 'score': 2.97}, {'connected_gene': 'EPN1', 'score': 2.31}, {'connected_gene': 'PPP6R1', 'score': 2.2}, {'connected_gene': 'KMT5C', 'score': 1.63}, {'connected_gene': 'KIR3DL1', 'score': 1.39}, {'connected_gene': 'GC19M055263', 'score': 0.39}]
chr19	GH19I054941	54941701	54941760	0.5	[{'connected_gene': 'NLRP7', 'score': 550.31}, {'connected_gene': 'ENSG00000275012', 'score': 0.44}, {'connected_gene': 'NCR1', 'score': 0.28}]
chr19	GH19I055029	55029051	55029190	0.57	[{'connected_gene': 'ENSG00000267265', 'score': 16.95}, {'connected_gene': 'SHISA7', 'score': 2.36}, {'connected_gene': 'KIR2DL3', 'score': 1.47}, {'connected_gene': 'NCR1', 'score': 1.4}, {'connected_gene': 'GP6', 'score': 0.44}, {'connected_gene': 'ENSG00000267149', 'score': 0.34}]
chr19	GH19I054947	54947499	54947558	0.5	[{'connected_gene': 'ENSG00000275012', 'score': 550.77}, {'connected_gene': 'NLRP7', 'score': 550.34}, {'connected_gene': 'NCR1', 'score': 0.26}]