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
ENST00000485807	[[227918125, 227920377], [227920581, 227922078]]	None
ENST00000366758	[[227918889, 227920377], [227920581, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]	[[227920092, 227920377], [227920581, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]
ENST00000438896	[[227918934, 227920377], [227920629, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]	[[227920092, 227920377], [227920629, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]
ENST00000480590	[[227920848, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227922777]]	None
ENST00000465251	[[227921319, 227921382], [227921607, 227922072]]	None
NM_023007	[[227918889, 227920377], [227920581, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]	[[227920092, 227920377], [227920581, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]
NM_001161465	[[227918889, 227920377], [227920629, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]	[[227920092, 227920377], [227920629, 227920728], [227921114, 227921382], [227921607, 227921733], [227922351, 227922517], [227922712, 227923112]]

Promoter

Chrom	Start	End	Description
chr1	227922934	227923013	CAGE_peak_1_at_JMJD4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I228455	228455800	228460001	2.32	[{'connected_gene': 'HIST3H2A', 'score': 550.77}, {'connected_gene': 'HIST3H2BB', 'score': 550.77}, {'connected_gene': 'GC01M228457', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 103.44}, {'connected_gene': 'C1orf35', 'score': 50.68}, {'connected_gene': 'ENSG00000269890', 'score': 39.66}, {'connected_gene': 'ZNF678', 'score': 27.06}, {'connected_gene': 'HIST3H3', 'score': 21.27}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'JMJD4', 'score': 10.55}, {'connected_gene': 'BTNL10', 'score': 10.46}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'ENSG00000269934', 'score': 10.4}, {'connected_gene': 'IBA57-AS1', 'score': 10.19}, {'connected_gene': 'OBSCN', 'score': 10.11}, {'connected_gene': 'ARF1', 'score': 9.76}]
chr1	GH01I227733	227733702	227736482	2.33	[{'connected_gene': 'JMJD4', 'score': 570.46}, {'connected_gene': 'CICP26', 'score': 152.02}, {'connected_gene': 'ZNF678', 'score': 114.76}, {'connected_gene': 'C1orf35', 'score': 106.13}, {'connected_gene': 'CDC42BPA', 'score': 72.03}, {'connected_gene': 'ENSG00000269890', 'score': 51.47}, {'connected_gene': 'HIST3H3', 'score': 20.3}, {'connected_gene': 'SNAP47', 'score': 11.95}, {'connected_gene': 'MRPL55', 'score': 10.42}, {'connected_gene': 'IBA57-AS1', 'score': 10.18}, {'connected_gene': 'PIR45879', 'score': 0.44}]
chr1	GH01I227741	227741333	227741695	0.43	[{'connected_gene': 'JMJD4', 'score': 0.44}, {'connected_gene': 'SNAP47-AS1', 'score': 0.44}, {'connected_gene': 'SNAP47', 'score': 0.39}]
chr1	GH01I227915	227915740	227915889	0.78	[{'connected_gene': 'JMJD4', 'score': 10.61}, {'connected_gene': 'MIR5008', 'score': 0.31}, {'connected_gene': 'PRSS38', 'score': 0.15}]
chr1	GH01I227395	227395667	227397719	1	[{'connected_gene': 'CICP26', 'score': 32.99}, {'connected_gene': 'ZNF678', 'score': 26.64}, {'connected_gene': 'LINC01641', 'score': 21.51}, {'connected_gene': 'C1orf35', 'score': 12.03}, {'connected_gene': 'ENSG00000269890', 'score': 11.3}, {'connected_gene': 'JMJD4', 'score': 10.38}, {'connected_gene': 'NUCKS1P1', 'score': 0.31}]
chr1	GH01I227792	227792760	227795332	1.45	[{'connected_gene': 'ZNF678', 'score': 14.86}, {'connected_gene': 'JMJD4', 'score': 14.59}, {'connected_gene': 'WNT9A', 'score': 14.13}, {'connected_gene': 'C1orf35', 'score': 11.87}, {'connected_gene': 'SNAP47', 'score': 7.01}, {'connected_gene': 'COQ8A', 'score': 5.35}, {'connected_gene': 'CDC42BPA', 'score': 1.37}, {'connected_gene': 'LOC105373289', 'score': 0.44}, {'connected_gene': 'PRSS38', 'score': 0.34}]
chr1	GH01I227933	227933686	227936310	1.27	[{'connected_gene': 'ZNF678', 'score': 52.38}, {'connected_gene': 'CICP26', 'score': 33.43}, {'connected_gene': 'OBSCN', 'score': 14.64}, {'connected_gene': 'OBSCN-AS1', 'score': 14.16}, {'connected_gene': 'C1orf35', 'score': 11.77}, {'connected_gene': 'JMJD4', 'score': 10.6}, {'connected_gene': 'CDC42BPA', 'score': 10.48}, {'connected_gene': 'HIST3H3', 'score': 9.92}, {'connected_gene': 'MIR5008', 'score': 0.44}, {'connected_gene': 'WNT9A', 'score': 0.39}, {'connected_gene': 'PRSS38', 'score': 0.13}]
chr1	GH01I228137	228137689	228146440	2.3	[{'connected_gene': 'GUK1', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 49.82}, {'connected_gene': 'CICP26', 'score': 31.83}, {'connected_gene': 'CDC42BPA', 'score': 23.49}, {'connected_gene': 'ENSG00000269890', 'score': 22.8}, {'connected_gene': 'OBSCN-AS1', 'score': 16.65}, {'connected_gene': 'FAM96AP2', 'score': 12.63}, {'connected_gene': 'MRPL55', 'score': 12.61}, {'connected_gene': 'JMJD4', 'score': 10.57}, {'connected_gene': 'HIST3H3', 'score': 10.07}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.97}, {'connected_gene': 'HIST3H2BB', 'score': 9.97}, {'connected_gene': 'ENSG00000269934', 'score': 9.73}, {'connected_gene': 'ZNF678', 'score': 9.66}, {'connected_gene': 'GC01P228138', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]
chr1	GH01I228161	228161460	228167704	2.61	[{'connected_gene': 'IBA57', 'score': 560.85}, {'connected_gene': 'GC01P228168', 'score': 550.77}, {'connected_gene': 'IBA57-AS1', 'score': 550.77}, {'connected_gene': 'PIR46737', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 38.68}, {'connected_gene': 'CICP26', 'score': 20.41}, {'connected_gene': 'ENSG00000269890', 'score': 13.79}, {'connected_gene': 'CDC42BPA', 'score': 10.48}, {'connected_gene': 'HIST3H3', 'score': 10.18}, {'connected_gene': 'C1orf35', 'score': 10.09}, {'connected_gene': 'OBSCN-AS1', 'score': 5.63}, {'connected_gene': 'JMJD4', 'score': 1.35}, {'connected_gene': 'GC01P228162', 'score': 0.77}]
chr1	GH01I227752	227752769	227755473	0.6	[{'connected_gene': 'SNAP47', 'score': 6.76}, {'connected_gene': 'JMJD4', 'score': 6.4}, {'connected_gene': 'SNAP47-AS1', 'score': 0.44}, {'connected_gene': 'LOC105373289', 'score': 0.29}]
chr1	GH01I227744	227744646	227744966	0.38	[{'connected_gene': 'SNAP47-AS1', 'score': 0.77}, {'connected_gene': 'JMJD4', 'score': 0.44}, {'connected_gene': 'SNAP47', 'score': 0.37}]
chr1	GH01I227431	227431319	227432775	1.42	[{'connected_gene': 'RPS18P3', 'score': 550.77}, {'connected_gene': 'BTF3P9', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 90.69}, {'connected_gene': 'ZNF678', 'score': 79.98}, {'connected_gene': 'C1orf35', 'score': 67.76}, {'connected_gene': 'CDC42BPA', 'score': 46.23}, {'connected_gene': 'ENSG00000269890', 'score': 41.18}, {'connected_gene': 'JMJD4', 'score': 19.21}, {'connected_gene': 'HIST3H3', 'score': 10.77}, {'connected_gene': 'PSEN2', 'score': 10.03}, {'connected_gene': 'LINC01641', 'score': 4.32}]
chr1	GH01I227729	227729940	227731973	1.03	[{'connected_gene': 'PIR45879', 'score': 550.77}, {'connected_gene': 'SNAP47', 'score': 7.69}, {'connected_gene': 'JMJD4', 'score': 0.77}]