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
ENST00000305943	[[228674761, 228675579], [228676660, 228676753], [228680753, 228680975], [228681583, 228683467]]	[[228675516, 228675579], [228676660, 228676753], [228680753, 228680975], [228681583, 228681586]]
ENST00000482739	[[228675922, 228676186], [228676660, 228676757], [228680753, 228680975], [228681583, 228683467]]	None
ENST00000484293	[[228676660, 228676753], [228680753, 228680975], [228681583, 228681971]]	None
ENST00000493597	[[228680936, 228680975], [228682292, 228682670]]	None
NM_001010858	[[228675067, 228675579], [228676660, 228676753], [228680753, 228680975], [228681583, 228683889]]	[[228675189, 228675579], [228676660, 228676753], [228680753, 228680975], [228681583, 228681586]]

Promoter

Chrom	Start	End	Description
chr1	228675057	228675128	CAGE_peak_1_at_RNF187_5end
chr1	228681784	228681825	CAGE_peak_3_at_RNF187_5end
chr1	228682158	228682200	CAGE_peak_4_at_RNF187_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I228472	228472601	228473000	0.84	[{'connected_gene': 'OBSCN', 'score': 5.44}, {'connected_gene': 'GJC2', 'score': 5.27}, {'connected_gene': 'HIST3H2BA', 'score': 0.44}, {'connected_gene': 'RNF187', 'score': 0.39}]
chr1	GH01I228205	228205238	228211521	1.63	[{'connected_gene': 'OBSCN', 'score': 591.92}, {'connected_gene': 'RNF187', 'score': 5.12}, {'connected_gene': 'TRIM17', 'score': 2.35}, {'connected_gene': 'GJC2', 'score': 1.72}, {'connected_gene': 'OBSCN-AS1', 'score': 0.44}]
chr1	GH01I228500	228500001	228501800	1.52	[{'connected_gene': 'HIST3H3', 'score': 19.19}, {'connected_gene': 'ZNF678', 'score': 14.69}, {'connected_gene': 'HIST3H2A', 'score': 13.23}, {'connected_gene': 'HIST3H2BB', 'score': 11.96}, {'connected_gene': 'RPL23AP15', 'score': 11.93}, {'connected_gene': 'CICP26', 'score': 11.1}, {'connected_gene': 'OBSCN-AS1', 'score': 10.66}, {'connected_gene': 'OBSCN', 'score': 10.66}, {'connected_gene': 'C1orf35', 'score': 9.78}, {'connected_gene': 'RNF187', 'score': 9.25}, {'connected_gene': 'LOC105373124', 'score': 0.44}, {'connected_gene': 'ENSG00000279306', 'score': 0.39}]
chr1	GH01I228485	228485900	228489193	2.32	[{'connected_gene': 'RNF187', 'score': 556.93}, {'connected_gene': 'ENSG00000279306', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 38.9}, {'connected_gene': 'ZNF678', 'score': 35.2}, {'connected_gene': 'C1orf35', 'score': 20.58}, {'connected_gene': 'ENSG00000269890', 'score': 11.13}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'GJC2', 'score': 5.59}, {'connected_gene': 'LOC105373124', 'score': 0.34}]
chr1	GH01I228478	228478815	228480257	1.05	[{'connected_gene': 'RNF187', 'score': 0.44}, {'connected_gene': 'HIST3H2BA', 'score': 0.39}]
chr1	GH01I229114	229114006	229115849	0.84	[{'connected_gene': 'RNF187', 'score': 4.83}, {'connected_gene': 'LOC105373158', 'score': 0.2}, {'connected_gene': 'GC01M229181', 'score': 0.2}, {'connected_gene': 'ISCA1P2', 'score': 0.19}, {'connected_gene': 'GC01M228906', 'score': 0.08}]
chr1	GH01I228646	228646000	228649442	2.09	[{'connected_gene': 'LOC105373132', 'score': 550.77}, {'connected_gene': 'RNA5SP18', 'score': 550.77}, {'connected_gene': 'GC01M228712', 'score': 550.77}, {'connected_gene': 'RNA5S17', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 15.16}, {'connected_gene': 'HMGN2P19', 'score': 12.25}, {'connected_gene': 'C1orf35', 'score': 12.2}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'ENSG00000269890', 'score': 11.85}, {'connected_gene': 'NUP133', 'score': 11.06}, {'connected_gene': 'RHOU', 'score': 11.0}, {'connected_gene': 'HIST3H3', 'score': 10.82}, {'connected_gene': 'TAF5L', 'score': 9.94}, {'connected_gene': 'DUSP5P1', 'score': 5.57}, {'connected_gene': 'ENSG00000270110', 'score': 5.02}, {'connected_gene': 'RNF187', 'score': 4.36}, {'connected_gene': 'HIST3H2A', 'score': 1.44}, {'connected_gene': 'TRIM11', 'score': 1.41}]
chr1	GH01I228463	228463476	228465899	1.92	[{'connected_gene': 'GC01P228464', 'score': 550.77}, {'connected_gene': 'HIST3H2BA', 'score': 550.77}, {'connected_gene': 'ENSG00000231563', 'score': 10.46}, {'connected_gene': 'TRIM11', 'score': 10.46}, {'connected_gene': 'OBSCN', 'score': 10.08}, {'connected_gene': 'HIST3H2BB', 'score': 3.99}, {'connected_gene': 'HIST3H2A', 'score': 3.64}, {'connected_gene': 'RNF187', 'score': 0.34}]
chr1	GH01I228489	228489649	228491250	1.17	[{'connected_gene': 'ENSG00000226920', 'score': 14.65}, {'connected_gene': 'RNF187', 'score': 9.69}, {'connected_gene': 'OBSCN', 'score': 6.18}, {'connected_gene': 'ENSG00000279306', 'score': 0.77}, {'connected_gene': 'LOC105373124', 'score': 0.37}]
chr1	GH01I228484	228484820	228485849	1.26	[{'connected_gene': 'ENSG00000279306', 'score': 550.77}, {'connected_gene': 'RNF187', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 19.95}, {'connected_gene': 'ZNF678', 'score': 15.46}, {'connected_gene': 'ENSG00000269890', 'score': 11.13}, {'connected_gene': 'OBSCN', 'score': 6.74}, {'connected_gene': 'HIST3H2BA', 'score': 0.34}]