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
ENST00000328089	[[9352938, 9353130], [9415801, 9416644], [9427506, 9429591]]	[[9415950, 9416644], [9427506, 9427634]]
ENST00000450402	[[9354586, 9354653], [9415801, 9416556]]	[[9415950, 9416556]]
ENST00000357898	[[9411489, 9411669], [9415801, 9416644], [9427506, 9427922]]	[[9415950, 9416644], [9427506, 9427634]]
ENST00000377399	[[9415765, 9416644], [9427506, 9427634]]	[[9415950, 9416644], [9427506, 9427634]]
NM_025106	[[9352940, 9353130], [9415801, 9416644], [9427506, 9429591]]	[[9415950, 9416644], [9427506, 9427634]]

Promoter

Chrom	Start	End	Description
chr1	9352942	9352964	CAGE_peak_1_at_SPSB1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I009274	9274996	9276331	1.54	[{'connected_gene': 'SPSB1', 'score': 9.25}, {'connected_gene': 'H6PD', 'score': 6.64}, {'connected_gene': 'SLC25A33', 'score': 1.23}, {'connected_gene': 'PIR55180', 'score': 0.44}]
chr1	GH01I009347	9347919	9347978	0.5	[{'connected_gene': 'SPSB1', 'score': 550.22}, {'connected_gene': 'GPR157', 'score': 10.32}, {'connected_gene': 'ENSG00000284652', 'score': 0.19}]
chr1	GH01I009278	9278402	9282232	1.2	[{'connected_gene': 'SPSB1', 'score': 6.92}, {'connected_gene': 'SLC2A5', 'score': 5.68}, {'connected_gene': 'H6PD', 'score': 5.27}, {'connected_gene': 'PIK3CD', 'score': 5.01}, {'connected_gene': 'PIR55180', 'score': 0.39}]
chr1	GH01I009290	9289580	9291039	1.02	[{'connected_gene': 'SPSB1', 'score': 5.01}, {'connected_gene': 'CTNNBIP1', 'score': 4.83}, {'connected_gene': 'PIR55180', 'score': 0.34}]
chr1	GH01I009291	9291442	9296535	2.2	[{'connected_gene': 'SPSB1', 'score': 555.77}, {'connected_gene': 'SLC45A1', 'score': 27.69}, {'connected_gene': 'CLSTN1', 'score': 14.16}, {'connected_gene': 'LOC102724552', 'score': 5.88}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1	GH01I009328	9328465	9329553	0.49	[{'connected_gene': 'SPSB1', 'score': 0.28}, {'connected_gene': 'ENSG00000284652', 'score': 0.16}]
chr1	GH01I009330	9330763	9331991	0.93	[{'connected_gene': 'SPSB1', 'score': 0.28}, {'connected_gene': 'ENSG00000284652', 'score': 0.16}]
chr1	GH01I009283	9283262	9284280	0.43	[{'connected_gene': 'SPSB1', 'score': 0.44}, {'connected_gene': 'PIR55180', 'score': 0.37}]
chr1	GH01I009289	9289122	9289291	0.98	[{'connected_gene': 'SPSB1', 'score': 0.77}, {'connected_gene': 'PIR55180', 'score': 0.34}]
chr1	GH01I009332	9332044	9333398	0.69	[{'connected_gene': 'SPSB1', 'score': 0.28}, {'connected_gene': 'ENSG00000284652', 'score': 0.16}]
chr1	GH01I009311	9311015	9312103	0.56	[{'connected_gene': 'SPSB1', 'score': 0.37}, {'connected_gene': 'ENSG00000284652', 'score': 0.14}]
chr1	GH01I009296	9296891	9297413	0.49	[{'connected_gene': 'SPSB1', 'score': 0.77}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1	GH01I009337	9337860	9341001	1.23	[{'connected_gene': 'SPSB1', 'score': 0.25}, {'connected_gene': 'ENSG00000284652', 'score': 0.18}]
chr1	GH01I009341	9341932	9342960	0.38	[{'connected_gene': 'SPSB1', 'score': 0.25}, {'connected_gene': 'ENSG00000284652', 'score': 0.18}]
chr1	GH01I009327	9327367	9327660	0.38	[{'connected_gene': 'SPSB1', 'score': 0.29}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009331	9330483	9330687	0.2	[{'connected_gene': 'SPSB1', 'score': 0.28}, {'connected_gene': 'ENSG00000284652', 'score': 0.16}]
chr1	GH01I009325	9325654	9327351	0.71	[{'connected_gene': 'SPSB1', 'score': 0.29}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009268	9268662	9270855	0.6	[{'connected_gene': 'GPR157', 'score': 10.9}, {'connected_gene': 'SPSB1', 'score': 6.88}, {'connected_gene': 'H6PD', 'score': 4.54}, {'connected_gene': 'PIR55180', 'score': 0.77}]
chr1	GH01I009353	9353823	9354716	0.2	[{'connected_gene': 'GPR157', 'score': 10.61}, {'connected_gene': 'SPSB1', 'score': 0.21}, {'connected_gene': 'ENSG00000284652', 'score': 0.2}]
chr1	GH01I009349	9349014	9351125	0.76	[{'connected_gene': 'GPR157', 'score': 10.31}, {'connected_gene': 'SPSB1', 'score': 0.22}, {'connected_gene': 'ENSG00000284652', 'score': 0.19}]
chr1	GH01I009362	9362401	9363605	0.78	[{'connected_gene': 'GPR157', 'score': 10.61}, {'connected_gene': 'ENSG00000284652', 'score': 0.22}, {'connected_gene': 'SPSB1', 'score': 0.19}]
chr1	GH01I009343	9343734	9347233	0.65	[{'connected_gene': 'GPR157', 'score': 10.32}, {'connected_gene': 'SPSB1', 'score': 0.23}, {'connected_gene': 'ENSG00000284652', 'score': 0.18}]
chr1	GH01I009403	9403812	9407857	0.56	[{'connected_gene': 'GPR157', 'score': 9.53}, {'connected_gene': 'ENSG00000284652', 'score': 0.37}, {'connected_gene': 'SPSB1', 'score': 0.14}]
chr1	GH01I009354	9354813	9356431	0.43	[{'connected_gene': 'GPR157', 'score': 10.61}, {'connected_gene': 'SPSB1', 'score': 0.21}, {'connected_gene': 'ENSG00000284652', 'score': 0.2}]
chr1	GH01I009360	9360424	9361956	0.38	[{'connected_gene': 'GPR157', 'score': 10.61}, {'connected_gene': 'ENSG00000284652', 'score': 0.21}, {'connected_gene': 'SPSB1', 'score': 0.2}]
chr1	GH01I009357	9357617	9359478	0.46	[{'connected_gene': 'GPR157', 'score': 15.92}, {'connected_gene': 'PIK3CD', 'score': 5.01}, {'connected_gene': 'ENSG00000284652', 'score': 0.21}, {'connected_gene': 'SPSB1', 'score': 0.2}]
chr1	GH01I009365	9365513	9367014	0.38	[{'connected_gene': 'MIR34A', 'score': 10.25}, {'connected_gene': 'ENSG00000284652', 'score': 0.22}, {'connected_gene': 'SPSB1', 'score': 0.19}]
chr1	GH01I009326	9324542	9324691	0.4	[{'connected_gene': 'MIR34A', 'score': 10.21}, {'connected_gene': 'SPSB1', 'score': 0.29}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009368	9368221	9369014	0.31	[{'connected_gene': 'MIR34A', 'score': 10.25}, {'connected_gene': 'ENSG00000284652', 'score': 0.23}, {'connected_gene': 'SPSB1', 'score': 0.18}]
chr1	GH01I009322	9322982	9323529	0.43	[{'connected_gene': 'MIR34A', 'score': 10.21}, {'connected_gene': 'SPSB1', 'score': 0.29}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009324	9324732	9325085	0.2	[{'connected_gene': 'MIR34A', 'score': 10.21}, {'connected_gene': 'SPSB1', 'score': 0.29}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009319	9319220	9322431	1	[{'connected_gene': 'MIR34A', 'score': 10.22}, {'connected_gene': 'SPSB1', 'score': 0.31}, {'connected_gene': 'ENSG00000284652', 'score': 0.15}]
chr1	GH01I009351	9351138	9353742	0.59	[{'connected_gene': 'MIR34A', 'score': 10.81}, {'connected_gene': 'GPR157', 'score': 10.61}, {'connected_gene': 'SPSB1', 'score': 0.22}, {'connected_gene': 'ENSG00000284652', 'score': 0.19}]
chr1	GH01I009314	9314241	9318799	1.22	[{'connected_gene': 'MIR34A', 'score': 10.21}, {'connected_gene': 'PIK3CD', 'score': 4.27}, {'connected_gene': 'SPSB1', 'score': 0.34}, {'connected_gene': 'ENSG00000284652', 'score': 0.14}]
chr1	GH01I009369	9369550	9377696	1.47	[{'connected_gene': 'MIR34A', 'score': 10.31}, {'connected_gene': 'RBP7', 'score': 6.42}, {'connected_gene': 'ENSG00000284652', 'score': 0.25}, {'connected_gene': 'SPSB1', 'score': 0.18}]
chr1	GH01I009304	9304736	9307068	0.31	[{'connected_gene': 'TMEM201', 'score': 5.57}, {'connected_gene': 'SPSB1', 'score': 0.39}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1	GH01I009298	9298557	9304173	1.35	[{'connected_gene': 'LOC102724552', 'score': 19.22}, {'connected_gene': 'SLC2A5', 'score': 4.68}, {'connected_gene': 'SPSB1', 'score': 0.44}, {'connected_gene': 'ENSG00000284652', 'score': 0.13}]
chr1	GH01I009434	9434238	9445127	1.6	[{'connected_gene': 'RNA5SP40', 'score': 550.77}, {'connected_gene': 'LOC100506022', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 10.48}, {'connected_gene': 'MIR34A', 'score': 10.31}, {'connected_gene': 'SPSB1', 'score': 2.34}]
chr1	GH01I009262	9262792	9264965	0.38	[{'connected_gene': 'PIR53045', 'score': 550.77}, {'connected_gene': 'SPSB1', 'score': 12.54}, {'connected_gene': 'H6PD', 'score': 0.31}]
chr1	GH01I009384	9384039	9385401	0.86	[{'connected_gene': 'ENSG00000284652', 'score': 0.28}, {'connected_gene': 'SPSB1', 'score': 0.16}]
chr1	GH01I009419	9419517	9420757	0.31	[{'connected_gene': 'ENSG00000284652', 'score': 0.77}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009385	9385502	9385671	0.58	[{'connected_gene': 'ENSG00000284652', 'score': 0.28}, {'connected_gene': 'SPSB1', 'score': 0.16}]
chr1	GH01I009381	9381939	9383755	0.52	[{'connected_gene': 'ENSG00000284652', 'score': 0.26}, {'connected_gene': 'SPSB1', 'score': 0.17}]
chr1	GH01I009409	9409590	9410204	0.2	[{'connected_gene': 'ENSG00000284652', 'score': 0.39}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009417	9417601	9417800	0.4	[{'connected_gene': 'ENSG00000284652', 'score': 0.44}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009410	9410407	9411401	1.26	[{'connected_gene': 'ENSG00000284652', 'score': 0.39}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009378	9378660	9379662	0.38	[{'connected_gene': 'ENSG00000284652', 'score': 0.26}, {'connected_gene': 'SPSB1', 'score': 0.17}]
chr1	GH01I009397	9397695	9403207	1.28	[{'connected_gene': 'ENSG00000284652', 'score': 0.34}, {'connected_gene': 'SPSB1', 'score': 0.14}]
chr1	GH01I009412	9412364	9415290	1.45	[{'connected_gene': 'ENSG00000284652', 'score': 0.44}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009386	9386664	9387797	0.2	[{'connected_gene': 'ENSG00000284652', 'score': 0.28}, {'connected_gene': 'SPSB1', 'score': 0.16}]
chr1	GH01I009379	9378123	9378548	0.2	[{'connected_gene': 'ENSG00000284652', 'score': 0.26}, {'connected_gene': 'SPSB1', 'score': 0.17}]
chr1	GH01I009418	9418707	9419355	0.2	[{'connected_gene': 'ENSG00000284652', 'score': 0.77}, {'connected_gene': 'SPSB1', 'score': 0.13}]
chr1	GH01I009388	9388255	9389217	0.89	[{'connected_gene': 'ENSG00000284652', 'score': 0.29}, {'connected_gene': 'SPSB1', 'score': 0.15}]
chr1	GH01I009266	9266843	9267402	1.06	[{'connected_gene': 'PIR55180', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 10.91}, {'connected_gene': 'H6PD', 'score': 7.07}, {'connected_gene': 'SPSB1', 'score': 0.31}]
chr1	GH01I009162	9162041	9167156	1.72	[{'connected_gene': 'GC01M009163', 'score': 550.77}, {'connected_gene': 'GC01P009164', 'score': 550.77}, {'connected_gene': 'GPR157', 'score': 12.03}, {'connected_gene': 'SLC45A1', 'score': 11.34}, {'connected_gene': 'H6PD', 'score': 5.03}, {'connected_gene': 'LINC01759', 'score': 4.85}, {'connected_gene': 'SLC2A5', 'score': 4.48}, {'connected_gene': 'SPSB1', 'score': 1.99}, {'connected_gene': 'GC01M009171', 'score': 0.44}, {'connected_gene': 'MIR34AHG', 'score': 0.29}]