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
ENST00000499247	[[48939583, 48941524], [48943418, 48943706]]	[[48940340, 48941378]]
ENST00000268957	[[48940340, 48941524], [48944854, 48944963], [48945165, 48945339]]	[[48940340, 48941378]]
ENST00000509385	[[48940729, 48941321], [48943418, 48943715]]	None
NM_005749	[[48939583, 48941524], [48943418, 48943715]]	[[48940340, 48941378]]
NM_001243885	[[48939583, 48941321], [48943418, 48943715]]	[[48940340, 48940961]]
NM_001243877	[[48939583, 48941524], [48944854, 48944963], [48945165, 48945339]]	[[48940340, 48941378]]

Promoter

Chrom	Start	End	Description
chr17	48940949	48940979	CAGE_peak_3_at_TOB1_5end
chr17	48941408	48941423	CAGE_peak_2_at_TOB1_5end
chr17	48943708	48943723	CAGE_peak_1_at_TOB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I050860	50860880	50869405	2.74	[{'connected_gene': 'TOB1-AS1', 'score': 564.04}, {'connected_gene': 'TOB1', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 42.85}, {'connected_gene': 'LUC7L3', 'score': 28.73}, {'connected_gene': 'ENSG00000247011', 'score': 13.12}, {'connected_gene': 'ENSG00000251665', 'score': 13.12}, {'connected_gene': 'WFIKKN2', 'score': 11.51}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'RPL5P33', 'score': 0.37}]
chr17	GH17I050886	50886838	50888129	0.63	[{'connected_gene': 'TOB1-AS1', 'score': 10.38}, {'connected_gene': 'TOB1', 'score': 8.22}, {'connected_gene': 'LOC105371825', 'score': 0.44}, {'connected_gene': 'GC17M050874', 'score': 0.39}]
chr17	GH17I050889	50889324	50894163	1.38	[{'connected_gene': 'TOB1-AS1', 'score': 10.46}, {'connected_gene': 'TOB1', 'score': 8.55}, {'connected_gene': 'LOC105371825', 'score': 0.77}, {'connected_gene': 'GC17M050874', 'score': 0.37}]
chr17	GH17I050902	50902399	50906971	1.65	[{'connected_gene': 'TOB1', 'score': 18.4}, {'connected_gene': 'ENSG00000251665', 'score': 12.61}, {'connected_gene': 'ENSG00000247011', 'score': 12.59}, {'connected_gene': 'WFIKKN2', 'score': 10.82}, {'connected_gene': 'RSAD1', 'score': 1.5}, {'connected_gene': 'ENSG00000262006', 'score': 0.44}, {'connected_gene': 'LOC105371825', 'score': 0.39}, {'connected_gene': 'TOB1-AS1', 'score': 0.28}]
chr17	GH17I050914	50914572	50924619	1.74	[{'connected_gene': 'ENSG00000251665', 'score': 18.65}, {'connected_gene': 'ENSG00000247011', 'score': 18.07}, {'connected_gene': 'MBTD1', 'score': 11.75}, {'connected_gene': 'WFIKKN2', 'score': 10.89}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'NME2', 'score': 6.75}, {'connected_gene': 'RSAD1', 'score': 3.39}, {'connected_gene': 'CHAD', 'score': 1.96}, {'connected_gene': 'TOB1', 'score': 1.87}, {'connected_gene': 'UTP18', 'score': 1.52}, {'connected_gene': 'ENSG00000262006', 'score': 0.44}]
chr17	GH17I050871	50871201	50873200	1.1	[{'connected_gene': 'ENSG00000251665', 'score': 11.65}, {'connected_gene': 'ENSG00000247011', 'score': 11.65}, {'connected_gene': 'MBTD1', 'score': 11.35}, {'connected_gene': 'TOB1', 'score': 0.77}, {'connected_gene': 'GC17M050874', 'score': 0.77}, {'connected_gene': 'TOB1-AS1', 'score': 0.44}]
chr17	GH17I050882	50882065	50885783	1.33	[{'connected_gene': 'ENSG00000251665', 'score': 12.75}, {'connected_gene': 'ENSG00000247011', 'score': 12.75}, {'connected_gene': 'WFIKKN2', 'score': 10.66}, {'connected_gene': 'TOB1-AS1', 'score': 10.4}, {'connected_gene': 'TOB1', 'score': 8.25}, {'connected_gene': 'TMEM92', 'score': 5.4}, {'connected_gene': 'GC17M050874', 'score': 0.44}, {'connected_gene': 'LOC105371825', 'score': 0.39}]
chr17	GH17I050873	50873231	50873362	0.53	[{'connected_gene': 'GC17M050874', 'score': 550.77}, {'connected_gene': 'CHAD', 'score': 12.98}, {'connected_gene': 'ENSG00000247011', 'score': 11.65}, {'connected_gene': 'ENSG00000251665', 'score': 11.65}, {'connected_gene': 'MBTD1', 'score': 11.35}, {'connected_gene': 'MYCBPAP', 'score': 6.14}, {'connected_gene': 'CACNA1G', 'score': 1.38}, {'connected_gene': 'TOB1', 'score': 0.44}, {'connected_gene': 'TOB1-AS1', 'score': 0.44}]
chr17	GH17I050907	50907498	50912510	1.37	[{'connected_gene': 'ENSG00000262006', 'score': 550.77}, {'connected_gene': 'TOB1', 'score': 18.52}, {'connected_gene': 'ENSG00000251665', 'score': 12.75}, {'connected_gene': 'ENSG00000247011', 'score': 12.75}, {'connected_gene': 'LOC105371825', 'score': 0.37}, {'connected_gene': 'TOB1-AS1', 'score': 0.26}]