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
ENST00000490444	[[2720468, 2720532], [2782755, 2782807], [2804256, 2804463], [2807813, 2807830]]	[[2804330, 2804463], [2807813, 2807830]]
ENST00000397885	[[2804163, 2804463], [2807813, 2807904], [2810343, 2810431], [2811360, 2811583], [2812219, 2812362], [2820017, 2820098], [2823780, 2823834], [2824716, 2824815], [2827072, 2827151], [2828674, 2828778], [2829773, 2829948], [2830961, 2831028], [2831250, 2831344], [2833356, 2833432], [2834030, 2834166], [2837179, 2837401], [2838425, 2838517], [2844044, 2844241]]	[[2804330, 2804463], [2807813, 2807904], [2810343, 2810431], [2811360, 2811583], [2812219, 2812362], [2820017, 2820098], [2823780, 2823834], [2824716, 2824815], [2827072, 2827151], [2828674, 2828778], [2829773, 2829948], [2830961, 2831028], [2831250, 2831344], [2833356, 2833432], [2834030, 2834166], [2837179, 2837401], [2838425, 2838507]]
ENST00000382032	[[2804166, 2804463], [2807813, 2807974]]	None
ENST00000469168	[[2828474, 2828778], [2829773, 2829925]]	None
NM_014878	[[2804151, 2804463], [2807813, 2807904], [2810343, 2810431], [2811360, 2811583], [2812219, 2812362], [2820017, 2820098], [2823780, 2823834], [2824716, 2824815], [2827072, 2827151], [2828674, 2828778], [2829773, 2829948], [2830961, 2831028], [2831250, 2831344], [2833356, 2833432], [2834030, 2834166], [2837179, 2837401], [2838425, 2838517], [2844044, 2844130]]	[[2804330, 2804463], [2807813, 2807904], [2810343, 2810431], [2811360, 2811583], [2812219, 2812362], [2820017, 2820098], [2823780, 2823834], [2824716, 2824815], [2827072, 2827151], [2828674, 2828778], [2829773, 2829948], [2830961, 2831028], [2831250, 2831344], [2833356, 2833432], [2834030, 2834166], [2837179, 2837401], [2838425, 2838507]]

Promoter

Chrom	Start	End	Description
chr9	2844058	2844119	CAGE_peak_1_at_KIAA0020_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I002570	2570455	2571857	1.17	[{'connected_gene': 'PUM3', 'score': 10.85}, {'connected_gene': 'ENSG00000236199', 'score': 10.34}, {'connected_gene': 'GC09P002596', 'score': 0.31}, {'connected_gene': 'ENSG00000231052', 'score': 0.29}, {'connected_gene': 'VLDLR-AS1', 'score': 0.19}]
chr9	GH09I002770	2770692	2772580	0.91	[{'connected_gene': 'PUM3', 'score': 5.61}, {'connected_gene': 'KCNV2', 'score': 4.5}, {'connected_gene': 'GC09M002760', 'score': 0.39}]
chr9	GH09I002797	2797847	2799211	0.43	[{'connected_gene': 'PUM3', 'score': 6.24}, {'connected_gene': 'KCNV2', 'score': 5.57}, {'connected_gene': 'GC09M002760', 'score': 0.28}]
chr9	GH09I002842	2842455	2845712	2.06	[{'connected_gene': 'PUM3', 'score': 555.3}, {'connected_gene': 'GC09P002844', 'score': 550.77}, {'connected_gene': 'GC09M002760', 'score': 0.18}]
chr9	GH09I002807	2807652	2812074	1.06	[{'connected_gene': 'PUM3', 'score': 11.54}, {'connected_gene': 'GC09M002760', 'score': 0.25}]
chr9	GH09I002815	2815299	2819735	0.86	[{'connected_gene': 'PUM3', 'score': 15.81}, {'connected_gene': 'GC09M002760', 'score': 0.22}]
chr9	GH09I002812	2812620	2814030	0.4	[{'connected_gene': 'PUM3', 'score': 11.54}, {'connected_gene': 'GC09M002760', 'score': 0.23}]
chr9	GH09I002838	2838201	2839400	0.49	[{'connected_gene': 'PUM3', 'score': 0.44}, {'connected_gene': 'GC09M002760', 'score': 0.18}]
chr9	GH09I002801	2801799	2804019	0.85	[{'connected_gene': 'PUM3', 'score': 15.5}, {'connected_gene': 'GC09M002760', 'score': 0.26}]
chr9	GH09I002013	2013477	2020552	2.71	[{'connected_gene': 'SMARCA2', 'score': 554.87}, {'connected_gene': 'ENSG00000236199', 'score': 12.08}, {'connected_gene': 'GPS2P1', 'score': 11.9}, {'connected_gene': 'PUM3', 'score': 11.21}, {'connected_gene': 'GC09P002022', 'score': 0.44}]
chr9	GH09I002630	2630181	2630330	0.52	[{'connected_gene': 'RFX3', 'score': 11.87}, {'connected_gene': 'PUM3', 'score': 9.43}, {'connected_gene': 'VLDLR', 'score': 0.44}, {'connected_gene': 'PIR48978', 'score': 0.44}, {'connected_gene': 'VLDLR-AS1', 'score': 0.39}]
chr9	GH09I003523	3523475	3529907	2.26	[{'connected_gene': 'RFX3', 'score': 550.77}, {'connected_gene': 'RFX3-AS1', 'score': 550.77}, {'connected_gene': 'PUM3', 'score': 10.99}, {'connected_gene': 'GC09P003267', 'score': 0.07}]
chr9	GH09I002728	2727801	2728414	1.11	[{'connected_gene': 'VLDLR-AS1', 'score': 10.9}, {'connected_gene': 'VLDLR', 'score': 10.87}, {'connected_gene': 'GC09M002715', 'score': 0.44}, {'connected_gene': 'KCNV2', 'score': 0.39}, {'connected_gene': 'PIR50784', 'score': 0.29}, {'connected_gene': 'PUM3', 'score': 0.13}]
chr9	GH09I002725	2725221	2726882	0.43	[{'connected_gene': 'VLDLR-AS1', 'score': 11.02}, {'connected_gene': 'VLDLR', 'score': 11.0}, {'connected_gene': 'KCNV2', 'score': 0.44}, {'connected_gene': 'GC09M002715', 'score': 0.44}, {'connected_gene': 'PIR50784', 'score': 0.29}, {'connected_gene': 'PUM3', 'score': 0.13}]
chr9	GH09I002727	2727081	2727195	0.2	[{'connected_gene': 'VLDLR-AS1', 'score': 10.9}, {'connected_gene': 'VLDLR', 'score': 10.87}, {'connected_gene': 'KCNV2', 'score': 0.44}, {'connected_gene': 'GC09M002715', 'score': 0.44}, {'connected_gene': 'PIR50784', 'score': 0.29}, {'connected_gene': 'PUM3', 'score': 0.13}]
chr9	GH09I002875	2875811	2876206	0.31	[{'connected_gene': 'GPS2P1', 'score': 550.77}, {'connected_gene': 'PUM3', 'score': 10.73}, {'connected_gene': 'GC09P002844', 'score': 0.29}]
chr9	GH09I002784	2784603	2788251	0.31	[{'connected_gene': 'KCNV2', 'score': 6.11}, {'connected_gene': 'GC09M002760', 'score': 0.31}, {'connected_gene': 'PUM3', 'score': 0.22}]
chr9	GH09I002724	2723461	2723610	0.2	[{'connected_gene': 'KCNV2', 'score': 0.44}, {'connected_gene': 'GC09M002715', 'score': 0.44}, {'connected_gene': 'PIR50784', 'score': 0.28}, {'connected_gene': 'PUM3', 'score': 0.13}]
chr9	GH09I002723	2723781	2723950	0.2	[{'connected_gene': 'KCNV2', 'score': 0.44}, {'connected_gene': 'GC09M002715', 'score': 0.44}, {'connected_gene': 'PIR50784', 'score': 0.28}, {'connected_gene': 'PUM3', 'score': 0.13}]
chr9	GH09I002780	2780807	2782070	0.31	[{'connected_gene': 'KCNV2', 'score': 7.15}, {'connected_gene': 'GC09M002760', 'score': 0.34}, {'connected_gene': 'PUM3', 'score': 0.21}]
chr9	GH09I002764	2764207	2766158	0.74	[{'connected_gene': 'KCNV2', 'score': 5.54}, {'connected_gene': 'GC09M002760', 'score': 0.77}, {'connected_gene': 'PUM3', 'score': 0.18}]
chr9	GH09I002760	2760542	2761736	0.49	[{'connected_gene': 'GC09M002760', 'score': 550.77}, {'connected_gene': 'PUM3', 'score': 4.89}]
chr9	GH09I002742	2742341	2742490	0.31	[{'connected_gene': 'PIR50784', 'score': 0.37}, {'connected_gene': 'GC09M002715', 'score': 0.34}, {'connected_gene': 'PUM3', 'score': 0.15}]
chr9	GH09I002745	2745537	2746548	0.2	[{'connected_gene': 'PIR50784', 'score': 0.39}, {'connected_gene': 'GC09M002715', 'score': 0.31}, {'connected_gene': 'PUM3', 'score': 0.15}]
chr9	GH09I002757	2757946	2759258	0.4	[{'connected_gene': 'PIR50784', 'score': 550.77}, {'connected_gene': 'GC09M002760', 'score': 0.77}, {'connected_gene': 'GC09M002715', 'score': 0.26}, {'connected_gene': 'PUM3', 'score': 0.17}]
chr9	GH09I002741	2741201	2741759	0.2	[{'connected_gene': 'PIR50784', 'score': 0.37}, {'connected_gene': 'GC09M002715', 'score': 0.34}, {'connected_gene': 'PUM3', 'score': 0.15}]
chr9	GH09I002799	2799991	2801235	0.38	[{'connected_gene': 'GC09M002760', 'score': 0.28}, {'connected_gene': 'PUM3', 'score': 0.26}]
chr9	GH09I002722	2722588	2723114	0.63	[{'connected_gene': 'GC09M002715', 'score': 0.77}, {'connected_gene': 'KCNV2', 'score': 0.44}, {'connected_gene': 'GC09P002708', 'score': 0.39}, {'connected_gene': 'PIR50784', 'score': 0.28}, {'connected_gene': 'PUM3', 'score': 0.13}]