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
ENST00000316073	[[152126070, 152129436], [152130227, 152130385], [152131659, 152131704]]	[[152127219, 152129436], [152130227, 152130365]]
NM_001122965	[[152126070, 152129436], [152130227, 152130385], [152131659, 152131704]]	[[152127219, 152129436], [152130227, 152130365]]

Promoter

Chrom	Start	End	Description
chr1	152131703	152131706	CAGE_peak_1_at_RPTN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I152459	152459582	152461024	0.95	[{'connected_gene': 'CRCT1', 'score': 10.36}, {'connected_gene': 'LCE5A', 'score': 10.27}, {'connected_gene': 'S100A11', 'score': 10.06}, {'connected_gene': 'RPTN', 'score': 9.31}, {'connected_gene': 'CRNN', 'score': 6.08}, {'connected_gene': 'PIR42758', 'score': 0.28}]
chr1	GH01I152461	152461685	152461834	0.66	[{'connected_gene': 'CRCT1', 'score': 10.36}, {'connected_gene': 'LCE5A', 'score': 10.29}, {'connected_gene': 'S100A11', 'score': 10.06}, {'connected_gene': 'RPTN', 'score': 9.31}, {'connected_gene': 'PIR42758', 'score': 0.26}]
chr1	GH01I152458	152458505	152458654	0.64	[{'connected_gene': 'FLG2', 'score': 10.08}, {'connected_gene': 'CRCT1', 'score': 9.9}, {'connected_gene': 'RPTN', 'score': 9.34}, {'connected_gene': 'PIR42758', 'score': 0.28}, {'connected_gene': 'LCE5A', 'score': 0.23}]
chr1	GH01I152143	152143715	152143898	0.34	[{'connected_gene': 'HRNR', 'score': 16.95}, {'connected_gene': 'ENSG00000226716', 'score': 12.27}, {'connected_gene': 'TCHH', 'score': 12.24}, {'connected_gene': 'PUDPP2', 'score': 12.16}, {'connected_gene': 'S100A11', 'score': 10.67}, {'connected_gene': 'TCHHL1', 'score': 10.3}, {'connected_gene': 'ENSG00000229021', 'score': 8.03}, {'connected_gene': 'LCE3A', 'score': 1.29}, {'connected_gene': 'RPTN', 'score': 0.37}]
chr1	GH01I152164	152164812	152164994	0.59	[{'connected_gene': 'HRNR', 'score': 8.77}, {'connected_gene': 'CELF3', 'score': 2.26}, {'connected_gene': 'FLG-AS1', 'score': 0.77}, {'connected_gene': 'RPTN', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.29}]
chr1	GH01I152165	152165401	152165800	0.31	[{'connected_gene': 'FLG-AS1', 'score': 0.77}, {'connected_gene': 'RPTN', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.29}]
chr1	GH01I152166	152166893	152168626	0.98	[{'connected_gene': 'FLG-AS1', 'score': 559.13}, {'connected_gene': 'ENSG00000229021', 'score': 8.69}, {'connected_gene': 'RPTN', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.31}]
chr1	GH01I152162	152162433	152163491	0.92	[{'connected_gene': 'POGZ', 'score': 9.92}, {'connected_gene': 'LYSMD1', 'score': 9.85}, {'connected_gene': 'RPTN', 'score': 0.77}, {'connected_gene': 'FLG-AS1', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.29}]
chr1	GH01I152426	152426925	152428489	0.31	[{'connected_gene': 'FLG', 'score': 15.98}, {'connected_gene': 'CRNN', 'score': 13.12}, {'connected_gene': 'FLG2', 'score': 10.66}, {'connected_gene': 'HRNR', 'score': 9.83}, {'connected_gene': 'RPTN', 'score': 9.71}, {'connected_gene': 'PIR42758', 'score': 0.44}, {'connected_gene': 'LCE5A', 'score': 0.18}, {'connected_gene': 'FLG-AS1', 'score': 0.07}]
chr1	GH01I152159	152159218	152159277	0.5	[{'connected_gene': 'RPTN', 'score': 550.77}, {'connected_gene': 'FLG-AS1', 'score': 0.44}, {'connected_gene': 'PUDPP2', 'score': 0.28}]
chr1	GH01I152026	152026331	152028011	0.38	[{'connected_gene': 'LOC105371442', 'score': 550.77}, {'connected_gene': 'S100A11', 'score': 18.06}, {'connected_gene': 'ENSG00000229021', 'score': 10.93}, {'connected_gene': 'S100A10', 'score': 10.93}, {'connected_gene': 'THEM4', 'score': 10.26}, {'connected_gene': 'RPTN', 'score': 10.03}, {'connected_gene': 'LINGO4', 'score': 9.03}, {'connected_gene': 'TDRKH', 'score': 5.42}, {'connected_gene': 'LOC100132111', 'score': 4.29}, {'connected_gene': 'PIR45655', 'score': 0.77}]
chr1	GH01I152022	152022473	152025631	0.58	[{'connected_gene': 'PIR45655', 'score': 550.77}, {'connected_gene': 'ENSG00000229021', 'score': 17.74}, {'connected_gene': 'S100A11', 'score': 11.23}, {'connected_gene': 'THEM4', 'score': 10.27}, {'connected_gene': 'RPTN', 'score': 10.03}, {'connected_gene': 'HRNR', 'score': 6.49}, {'connected_gene': 'LOC100132111', 'score': 4.32}, {'connected_gene': 'LOC105371442', 'score': 0.77}, {'connected_gene': 'ENSG00000240667', 'score': 0.44}, {'connected_gene': 'NBPF18P', 'score': 0.44}]