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
ENST00000327906	[[52444672, 52445263], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457657]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457333]]
ENST00000473145	[[52444905, 52445355], [52446826, 52446936], [52448011, 52448064], [52448511, 52448860]]	None
ENST00000482327	[[52445051, 52445263], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52448743, 52448852]]	None
ENST00000347025	[[52445212, 52445263], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456775, 52456897], [52457106, 52457656]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456775, 52456897], [52457106, 52457333]]
ENST00000472337	[[52446869, 52446936], [52453848, 52453950], [52454326, 52454451], [52454918, 52455011]]	None
ENST00000461861	[[52448538, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456852], [52457106, 52457656]]	[[52448538, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456852], [52457106, 52457333]]
ENST00000498509	[[52453935, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52456897], [52457106, 52457299]]	None
ENST00000465863	[[52455007, 52455078], [52455663, 52455770], [52457106, 52457422]]	[[52455007, 52455078], [52455663, 52455770], [52457106, 52457119]]
ENST00000459935	[[52455031, 52455078], [52455663, 52455770], [52456237, 52456873]]	None
NM_001321126	[[52444523, 52445222], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457657]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457333]]
NM_001278221	[[52444523, 52445263], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456775, 52456897], [52457106, 52457657]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456775, 52456897], [52457106, 52457333]]
NM_016483	[[52444523, 52445263], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457657]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457333]]
NM_001321127	[[52444523, 52445355], [52446826, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457657]]	[[52446895, 52446936], [52448011, 52448064], [52448511, 52448603], [52453848, 52453950], [52454326, 52454451], [52454918, 52455078], [52455663, 52455770], [52456237, 52456354], [52456775, 52456897], [52457106, 52457333]]

Promoter

Chrom	Start	End	Description
chr3	52444519	52444541	CAGE_peak_3_at_PHF7_5end
chr3	52444550	52444647	CAGE_peak_2_at_PHF7_5end
chr3	52444651	52444697	CAGE_peak_1_at_PHF7_5end
chr3	52444749	52444760	CAGE_peak_4_at_PHF7_5end
chr3	52454971	52454980	CAGE_peak_5_at_PHF7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I052385	52385285	52385454	0.67	[{'connected_gene': 'BAP1', 'score': 12.71}, {'connected_gene': 'PHF7', 'score': 12.68}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.18}, {'connected_gene': 'LOC101929054', 'score': 11.18}, {'connected_gene': 'TWF2', 'score': 11.18}, {'connected_gene': 'ENSG00000173366', 'score': 11.18}, {'connected_gene': 'MIR135A1', 'score': 11.18}, {'connected_gene': 'TLR9', 'score': 11.18}, {'connected_gene': 'WDR82', 'score': 11.17}, {'connected_gene': 'GLYCTK', 'score': 11.17}, {'connected_gene': 'SEMA3G', 'score': 10.71}, {'connected_gene': 'PPM1M', 'score': 10.39}, {'connected_gene': 'PPP2R5CP', 'score': 0.39}, {'connected_gene': 'PIR54826', 'score': 0.34}, {'connected_gene': 'DNAH1', 'score': 0.2}]
chr3	GH03I052427	52427966	52431115	1.51	[{'connected_gene': 'TNNC1', 'score': 12.9}, {'connected_gene': 'NISCH', 'score': 12.88}, {'connected_gene': 'MIR135A1', 'score': 10.52}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'GNL3', 'score': 9.58}, {'connected_gene': 'SNORD69', 'score': 9.58}, {'connected_gene': 'PBRM1', 'score': 9.44}, {'connected_gene': 'NT5DC2', 'score': 6.83}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'LOC105377091', 'score': 0.39}, {'connected_gene': 'PHF7', 'score': 0.37}]
chr3	GH03I052432	52432201	52433200	0.46	[{'connected_gene': 'SEMA3G', 'score': 0.39}, {'connected_gene': 'LOC105377091', 'score': 0.39}, {'connected_gene': 'PHF7', 'score': 0.34}]
chr3	GH03I052435	52435860	52437718	0.63	[{'connected_gene': 'SEMA3G', 'score': 0.44}, {'connected_gene': 'LOC105377091', 'score': 0.44}, {'connected_gene': 'PHF7', 'score': 0.31}]
chr3	GH03I053345	53345960	53348690	2.35	[{'connected_gene': 'DCP1A', 'score': 561.19}, {'connected_gene': 'NISCH', 'score': 37.22}, {'connected_gene': 'PBRM1', 'score': 23.95}, {'connected_gene': 'ENSG00000271976', 'score': 20.08}, {'connected_gene': 'RFT1', 'score': 13.15}, {'connected_gene': 'PHF7', 'score': 11.26}, {'connected_gene': 'ENSG00000212608', 'score': 11.08}, {'connected_gene': 'PRKCD', 'score': 10.97}, {'connected_gene': 'NEK4', 'score': 10.4}, {'connected_gene': 'ACTR8', 'score': 10.35}, {'connected_gene': 'GNL3', 'score': 10.14}, {'connected_gene': 'NT5DC2', 'score': 9.91}, {'connected_gene': 'TKT', 'score': 5.96}, {'connected_gene': 'STIMATE', 'score': 2.31}, {'connected_gene': 'SNORD38C', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.37}, {'connected_gene': 'GC03P053298', 'score': 0.25}]
chr3	GH03I052408	52408589	52412490	2.03	[{'connected_gene': 'PHF7', 'score': 550.77}, {'connected_gene': 'BAP1', 'score': 550.77}, {'connected_gene': 'SEMA3G', 'score': 12.4}, {'connected_gene': 'TNNC1', 'score': 12.37}, {'connected_gene': 'NISCH', 'score': 12.37}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'MIR135A1', 'score': 10.51}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'RNU6-856P', 'score': 9.87}, {'connected_gene': 'NT5DC2', 'score': 9.08}]
chr3	GH03I052412	52412794	52412853	0.61	[{'connected_gene': 'PHF7', 'score': 550.77}, {'connected_gene': 'SEMA3G', 'score': 12.4}, {'connected_gene': 'TNNC1', 'score': 12.37}, {'connected_gene': 'NISCH', 'score': 12.37}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'MIR135A1', 'score': 10.51}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'RNU6-856P', 'score': 9.88}, {'connected_gene': 'LOC105377091', 'score': 0.29}]
chr3	GH03I052074	52074516	52074665	0.41	[{'connected_gene': 'IQCF2', 'score': 31.62}, {'connected_gene': 'PHF7', 'score': 31.6}, {'connected_gene': 'IQCF5', 'score': 31.19}, {'connected_gene': 'IQCF1', 'score': 29.68}, {'connected_gene': 'IQCF6', 'score': 28.73}, {'connected_gene': 'LINC00696', 'score': 0.44}, {'connected_gene': 'POC1A', 'score': 0.18}]
chr3	GH03I052044	52044628	52058616	2.78	[{'connected_gene': 'DUSP7', 'score': 561.07}, {'connected_gene': 'DCAF1', 'score': 24.9}, {'connected_gene': 'GPR62', 'score': 23.38}, {'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'PHF7', 'score': 14.38}, {'connected_gene': 'NT5DC2', 'score': 13.65}, {'connected_gene': 'RPL29', 'score': 12.2}, {'connected_gene': 'PCBP4', 'score': 10.99}, {'connected_gene': 'WDR82', 'score': 10.3}, {'connected_gene': 'SFMBT1', 'score': 10.08}, {'connected_gene': 'NISCH', 'score': 9.77}, {'connected_gene': 'TWF2', 'score': 1.92}, {'connected_gene': 'ACY1', 'score': 1.61}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3	GH03I052243	52243437	52248334	2.45	[{'connected_gene': 'PPM1M', 'score': 568.16}, {'connected_gene': 'PBRM1', 'score': 18.78}, {'connected_gene': 'LOC101929054', 'score': 16.73}, {'connected_gene': 'GLYCTK', 'score': 16.24}, {'connected_gene': 'IQCF2', 'score': 14.8}, {'connected_gene': 'IQCF5', 'score': 14.46}, {'connected_gene': 'PHF7', 'score': 14.39}, {'connected_gene': 'IQCF6', 'score': 13.91}, {'connected_gene': 'IQCF1', 'score': 13.7}, {'connected_gene': 'WDR82', 'score': 13.64}, {'connected_gene': 'MIR135A1', 'score': 11.7}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.69}, {'connected_gene': 'MUSTN1', 'score': 4.88}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'GLT8D1', 'score': 1.88}, {'connected_gene': 'DNAH1', 'score': 1.81}, {'connected_gene': 'TWF2', 'score': 1.7}, {'connected_gene': 'GC03M052258', 'score': 0.39}, {'connected_gene': 'GC03M052257', 'score': 0.39}, {'connected_gene': 'PIR61179', 'score': 0.39}]