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
ENST00000366862	[[224301788, 224302098], [224318173, 224318283], [224321775, 224321914], [224340843, 224341039], [224345053, 224349749]]	[[224301831, 224302098], [224318173, 224318283], [224321775, 224321914], [224340843, 224341039], [224345053, 224345448]]
ENST00000424254	[[224301812, 224302098], [224318173, 224318283], [224321775, 224321914], [224345053, 224345852]]	[[224301831, 224302098], [224318173, 224318283], [224321775, 224321914], [224345053, 224345077]]
ENST00000523990	[[224301820, 224302098], [224318173, 224318283], [224340843, 224341039], [224345053, 224345884]]	[[224301831, 224302098], [224318173, 224318283], [224340843, 224340847]]
ENST00000483773	[[224301872, 224302098], [224318173, 224318283], [224321775, 224322067]]	None
ENST00000519894	[[224301919, 224302098], [224318173, 224318723]]	None
NR_049764	[[224301788, 224302098], [224318173, 224318283], [224340843, 224341039], [224345053, 224349749]]	None
NM_001136115	[[224301788, 224302098], [224318173, 224318283], [224321775, 224321914], [224345053, 224349749]]	[[224301831, 224302098], [224318173, 224318283], [224321775, 224321914], [224345053, 224345077]]
NM_015176	[[224301788, 224302098], [224318173, 224318283], [224321775, 224321914], [224340843, 224341039], [224345053, 224349749]]	[[224301831, 224302098], [224318173, 224318283], [224321775, 224321914], [224340843, 224341039], [224345053, 224345448]]

Promoter

Chrom	Start	End	Description
chr1	224301787	224301836	CAGE_peak_1_at_FBXO28_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I223710	223710431	223722216	2.82	[{'connected_gene': 'CAPN2', 'score': 579.21}, {'connected_gene': 'CICP5', 'score': 85.99}, {'connected_gene': 'NVL', 'score': 84.61}, {'connected_gene': 'LOC100287497', 'score': 47.33}, {'connected_gene': 'TP53BP2', 'score': 27.69}, {'connected_gene': 'WDR26', 'score': 27.45}, {'connected_gene': 'CAPN8', 'score': 14.59}, {'connected_gene': 'GTF2IP20', 'score': 12.95}, {'connected_gene': 'FBXO28', 'score': 11.41}, {'connected_gene': 'RNU6-1248P', 'score': 11.06}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'GC01P223725', 'score': 0.44}]
chr1	GH01I223825	223825002	223827799	1.52	[{'connected_gene': 'TP53BP2', 'score': 33.13}, {'connected_gene': 'CAPN2', 'score': 17.42}, {'connected_gene': 'FBXO28', 'score': 2.01}, {'connected_gene': 'GC01M223821', 'score': 0.77}, {'connected_gene': 'GC01P223795', 'score': 0.29}]
chr1	GH01I223844	223844059	223847446	2.56	[{'connected_gene': 'TP53BP2', 'score': 571.23}, {'connected_gene': 'GC01P223846', 'score': 550.77}, {'connected_gene': 'GC01P223847', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 75.44}, {'connected_gene': 'NVL', 'score': 51.64}, {'connected_gene': 'LOC100287497', 'score': 45.82}, {'connected_gene': 'CAPN2', 'score': 25.6}, {'connected_gene': 'FBXO28', 'score': 21.65}, {'connected_gene': 'WDR26', 'score': 20.96}, {'connected_gene': 'CNIH4', 'score': 9.89}, {'connected_gene': 'GTF2IP20', 'score': 8.01}, {'connected_gene': 'GC01M223821', 'score': 0.37}]
chr1	GH01I223831	223831002	223837799	1.6	[{'connected_gene': 'TP53BP2', 'score': 29.85}, {'connected_gene': 'NVL', 'score': 26.99}, {'connected_gene': 'CICP5', 'score': 18.33}, {'connected_gene': 'CAPN2', 'score': 18.22}, {'connected_gene': 'GTF2IP20', 'score': 10.17}, {'connected_gene': 'LOC100287497', 'score': 10.1}, {'connected_gene': 'CAPN8', 'score': 8.73}, {'connected_gene': 'FBXO28', 'score': 2.04}, {'connected_gene': 'GC01M223821', 'score': 0.44}]
chr1	GH01I224561	224561421	224566310	1.32	[{'connected_gene': 'NVL', 'score': 11.56}, {'connected_gene': 'FBXO28', 'score': 10.55}, {'connected_gene': 'AKR1B1P1', 'score': 0.39}, {'connected_gene': 'GC01P224480', 'score': 0.18}, {'connected_gene': 'CNIH3', 'score': 0.13}]
chr1	GH01I224356	224356219	224358596	2.34	[{'connected_gene': 'CNIH4', 'score': 587.17}, {'connected_gene': 'NVL', 'score': 16.51}, {'connected_gene': 'CNIH3', 'score': 10.94}, {'connected_gene': 'WDR26', 'score': 10.94}, {'connected_gene': 'LOC101927164', 'score': 10.21}, {'connected_gene': 'LOC101927143', 'score': 10.2}, {'connected_gene': 'CAPN2', 'score': 9.22}, {'connected_gene': 'DEGS1', 'score': 4.41}, {'connected_gene': 'FBXO28', 'score': 1.25}, {'connected_gene': 'GC01P224379', 'score': 0.37}]
chr1	GH01I224113	224113394	224116802	2.1	[{'connected_gene': 'FBXO28', 'score': 550.77}, {'connected_gene': 'LOC101927143', 'score': 32.86}, {'connected_gene': 'NVL', 'score': 24.02}, {'connected_gene': 'CICP5', 'score': 20.3}, {'connected_gene': 'WDR26', 'score': 19.52}, {'connected_gene': 'LOC100287497', 'score': 10.26}, {'connected_gene': 'GC01M224176', 'score': 0.21}]
chr1	GH01I224132	224132999	224133148	0.52	[{'connected_gene': 'FBXO28', 'score': 0.37}, {'connected_gene': 'GC01M224176', 'score': 0.26}]
chr1	GH01I223704	223704306	223709799	1.71	[{'connected_gene': 'LOC105373281', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 47.43}, {'connected_gene': 'CAPN2', 'score': 37.01}, {'connected_gene': 'WDR26', 'score': 32.57}, {'connected_gene': 'LOC100287497', 'score': 30.01}, {'connected_gene': 'NVL', 'score': 21.24}, {'connected_gene': 'CNIH4', 'score': 19.66}, {'connected_gene': 'CAPN8', 'score': 14.61}, {'connected_gene': 'FBXO28', 'score': 11.72}, {'connected_gene': 'AIDA', 'score': 10.07}, {'connected_gene': 'DISP1', 'score': 9.84}, {'connected_gene': 'LOC102724017', 'score': 9.68}]
chr1	GH01I223774	223774178	223777724	1.47	[{'connected_gene': 'LOC105373041', 'score': 550.77}, {'connected_gene': 'GC01M223774', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 28.13}, {'connected_gene': 'CAPN2', 'score': 18.3}, {'connected_gene': 'GTF2IP20', 'score': 10.64}, {'connected_gene': 'FBXO28', 'score': 2.42}]
chr1	GH01I224615	224615622	224620000	2.38	[{'connected_gene': 'LOC102723817', 'score': 550.77}, {'connected_gene': 'CNIH3', 'score': 550.09}, {'connected_gene': 'NVL', 'score': 54.07}, {'connected_gene': 'CICP5', 'score': 26.31}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'FBXO28', 'score': 10.54}, {'connected_gene': 'WDR26', 'score': 10.46}, {'connected_gene': 'LOC105373106', 'score': 9.64}, {'connected_gene': 'ENSG00000234247', 'score': 0.26}]
chr1	GH01I224082	224082173	224082490	0.59	[{'connected_gene': 'LOC101927143', 'score': 17.07}, {'connected_gene': 'NVL', 'score': 14.05}, {'connected_gene': 'CICP5', 'score': 11.35}, {'connected_gene': 'CNIH4', 'score': 9.64}, {'connected_gene': 'FBXO28', 'score': 2.04}, {'connected_gene': 'LOC105373061', 'score': 0.34}, {'connected_gene': 'GC01M224096', 'score': 0.34}]
chr1	GH01I224202	224202884	224206739	1.39	[{'connected_gene': 'LOC101927143', 'score': 36.51}, {'connected_gene': 'FBXO28', 'score': 11.84}, {'connected_gene': 'LOC100287497', 'score': 10.52}, {'connected_gene': 'CICP5', 'score': 10.27}, {'connected_gene': 'CNIH4', 'score': 9.96}, {'connected_gene': 'CAPN2', 'score': 9.71}, {'connected_gene': 'DEGS1', 'score': 6.97}, {'connected_gene': 'PIR34911', 'score': 0.39}]
chr1	GH01I224171	224171499	224171831	0.73	[{'connected_gene': 'LOC101927143', 'score': 13.82}, {'connected_gene': 'GC01M224176', 'score': 0.77}, {'connected_gene': 'FBXO28', 'score': 0.22}]
chr1	GH01I224133	224133153	224133837	0.52	[{'connected_gene': 'LOC101927143', 'score': 34.6}, {'connected_gene': 'FBXO28', 'score': 0.37}, {'connected_gene': 'GC01M224176', 'score': 0.26}]
chr1	GH01I224168	224168402	224171316	1.31	[{'connected_gene': 'LOC101927143', 'score': 38.7}, {'connected_gene': 'LOC101927164', 'score': 12.0}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'TP53BP2', 'score': 8.67}, {'connected_gene': 'DEGS1', 'score': 6.07}, {'connected_gene': 'FBXO28', 'score': 1.43}, {'connected_gene': 'WDR26', 'score': 1.38}, {'connected_gene': 'GC01M224176', 'score': 0.44}]
chr1	GH01I224163	224163524	224165519	0.79	[{'connected_gene': 'LOC101927143', 'score': 47.01}, {'connected_gene': 'LOC101927164', 'score': 11.97}, {'connected_gene': 'MIR320B2', 'score': 11.33}, {'connected_gene': 'NVL', 'score': 11.01}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'DEGS1', 'score': 5.81}, {'connected_gene': 'GC01M224176', 'score': 0.39}, {'connected_gene': 'FBXO28', 'score': 0.23}]
chr1	GH01I223722	223722418	223728531	1.77	[{'connected_gene': 'GC01P223725', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 37.83}, {'connected_gene': 'NVL', 'score': 33.81}, {'connected_gene': 'CAPN2', 'score': 29.98}, {'connected_gene': 'CICP5', 'score': 12.56}, {'connected_gene': 'RNU6-1248P', 'score': 11.17}, {'connected_gene': 'CAPN8', 'score': 5.57}, {'connected_gene': 'FBXO28', 'score': 1.76}, {'connected_gene': 'GC01M223727', 'score': 0.77}, {'connected_gene': 'LOC105373281', 'score': 0.37}]
chr1	GH01I223142	223142130	223144578	2.05	[{'connected_gene': 'ENSG00000236846', 'score': 550.77}, {'connected_gene': 'TLR5', 'score': 550.77}, {'connected_gene': 'CICP13', 'score': 28.77}, {'connected_gene': 'CICP5', 'score': 27.55}, {'connected_gene': 'ENSG00000272750', 'score': 23.71}, {'connected_gene': 'TAF1A', 'score': 18.79}, {'connected_gene': 'LOC100287497', 'score': 11.12}, {'connected_gene': 'FBXO28', 'score': 10.53}]