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
ENST00000366714	[[228337552, 228337708], [228345440, 228347527]]	[[228345459, 228346779]]
NM_020435	[[228337414, 228337708], [228345440, 228347527]]	[[228345459, 228346779]]

Promoter

Chrom	Start	End	Description
chr1	228337591	228337602	CAGE_peak_5_at_GJC2_5end
chr1	228337623	228337640	CAGE_peak_1_at_GJC2_5end
chr1	228337647	228337662	CAGE_peak_4_at_GJC2_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	GH01I228156	228156460	228156800	0.69	[{'connected_gene': 'OBSCN-AS1', 'score': 5.52}, {'connected_gene': 'GC01P228162', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]
chr1	GH01I228147	228147835	228152867	1.96	[{'connected_gene': 'GJC2', 'score': 557.51}, {'connected_gene': 'OBSCN-AS1', 'score': 5.39}, {'connected_gene': 'OBSCN', 'score': 4.84}, {'connected_gene': 'IBA57', 'score': 4.54}, {'connected_gene': 'ENSG00000269934', 'score': 4.13}, {'connected_gene': 'GC01P228162', 'score': 0.39}, {'connected_gene': 'GUK1', 'score': 0.39}]
chr1	GH01I228154	228154554	228155529	0.8	[{'connected_gene': 'GJC2', 'score': 0.44}, {'connected_gene': 'GC01P228162', 'score': 0.44}]
chr1	GH01I228445	228445521	228446654	1.17	[{'connected_gene': 'TRIM17', 'score': 16.97}, {'connected_gene': 'OBSCN', 'score': 16.3}, {'connected_gene': 'TRIM11', 'score': 13.15}, {'connected_gene': 'ENSG00000231563', 'score': 11.92}, {'connected_gene': 'OBSCN-AS1', 'score': 10.39}, {'connected_gene': 'WNT3A', 'score': 9.99}, {'connected_gene': 'GJC2', 'score': 4.48}, {'connected_gene': 'HIST3H2A', 'score': 2.15}, {'connected_gene': 'RPL23AP15', 'score': 0.77}, {'connected_gene': 'HIST3H3', 'score': 0.34}]
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	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	GH01I228157	228157635	228158148	0.31	[{'connected_gene': 'GC01P228162', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]