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
ENST00000318351	[[183770834, 183770935], [183772508, 183772675], [183773099, 183773144], [183773964, 183774074], [183774662, 183774832], [183776214, 183776375], [183777223, 183777428], [183777615, 183777831], [183777937, 183778459]]	[[183770868, 183770935], [183772508, 183772675], [183773099, 183773144], [183773964, 183774074], [183774662, 183774832], [183776214, 183776375], [183777223, 183777428], [183777615, 183777831], [183777937, 183778140]]
NM_130770	[[183770834, 183770935], [183772508, 183772675], [183773099, 183773144], [183773964, 183774074], [183774662, 183774832], [183776214, 183776375], [183777223, 183777428], [183777615, 183777831], [183777937, 183778461]]	[[183770868, 183770935], [183772508, 183772675], [183773099, 183773144], [183773964, 183774074], [183774662, 183774832], [183776214, 183776375], [183777223, 183777428], [183777615, 183777831], [183777937, 183778140]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I184195	184195157	184197102	0.31	[{'connected_gene': 'ECE2', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.5}, {'connected_gene': 'ALG3', 'score': 11.5}, {'connected_gene': 'EEF1AKMT4', 'score': 11.5}, {'connected_gene': 'VWA5B2', 'score': 11.37}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.12}, {'connected_gene': 'CAMK2N2', 'score': 10.98}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'HTR3E-AS1', 'score': 9.91}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.99}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3	GH03I184167	184167463	184170205	0.58	[{'connected_gene': 'VWA5B2', 'score': 19.79}, {'connected_gene': 'EIF2B5', 'score': 11.74}, {'connected_gene': 'ALG3', 'score': 10.53}, {'connected_gene': 'ECE2', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4', 'score': 10.53}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.53}, {'connected_gene': 'CAMK2N2', 'score': 10.46}, {'connected_gene': 'MIR1224', 'score': 10.38}, {'connected_gene': 'HTR3C', 'score': 9.94}, {'connected_gene': 'AP2M1', 'score': 0.44}, {'connected_gene': 'DVL3', 'score': 0.39}]
chr3	GH03I184197	184197152	184197779	0.31	[{'connected_gene': 'VWA5B2', 'score': 21.75}, {'connected_gene': 'EIF2B5', 'score': 11.22}, {'connected_gene': 'MIR1224', 'score': 11.14}, {'connected_gene': 'ALG3', 'score': 11.11}, {'connected_gene': 'CAMK2N2', 'score': 10.99}, {'connected_gene': 'ECE2', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4', 'score': 10.92}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.92}, {'connected_gene': 'HTR3C', 'score': 10.68}, {'connected_gene': 'EIF4G1', 'score': 10.25}, {'connected_gene': 'FAM131A', 'score': 9.86}, {'connected_gene': 'HTR3E-AS1', 'score': 9.82}, {'connected_gene': 'ABCC5', 'score': 9.72}, {'connected_gene': 'ABCF3', 'score': 0.39}]
chr3	GH03I184192	184192560	184194621	0.31	[{'connected_gene': 'VWA5B2', 'score': 21.18}, {'connected_gene': 'ALG3', 'score': 11.49}, {'connected_gene': 'ECE2', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4', 'score': 11.49}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 11.49}, {'connected_gene': 'MIR1224', 'score': 10.82}, {'connected_gene': 'CAMK2N2', 'score': 10.71}, {'connected_gene': 'ABCF3', 'score': 10.63}, {'connected_gene': 'PSMD2', 'score': 10.46}, {'connected_gene': 'HTR3C', 'score': 9.96}, {'connected_gene': 'HTR3E-AS1', 'score': 9.92}, {'connected_gene': 'EIF4G1', 'score': 9.72}, {'connected_gene': 'DVL3', 'score': 7.19}]
chr3	GH03I184110	184110206	184110835	1.1	[{'connected_gene': 'EIF2B5', 'score': 10.77}, {'connected_gene': 'HTR3C', 'score': 10.31}, {'connected_gene': 'CAMK2N2', 'score': 9.8}, {'connected_gene': 'ABCC5', 'score': 9.79}, {'connected_gene': 'PSMD2', 'score': 9.69}, {'connected_gene': 'VWA5B2', 'score': 9.52}, {'connected_gene': 'HSP90AA5P', 'score': 0.77}, {'connected_gene': 'HTR3E-AS1', 'score': 0.44}]
chr3	GH03I184133	184133681	184136794	2.1	[{'connected_gene': 'EIF2B5', 'score': 563.07}, {'connected_gene': 'ENSG00000273181', 'score': 556.34}, {'connected_gene': 'LOC105374249', 'score': 550.77}, {'connected_gene': 'ENSG00000272721', 'score': 550.77}, {'connected_gene': 'DVL3', 'score': 20.83}, {'connected_gene': 'VWA5B2', 'score': 18.01}, {'connected_gene': 'RPS3P3', 'score': 17.38}, {'connected_gene': 'POLR2H', 'score': 15.89}, {'connected_gene': 'AP2M1', 'score': 10.69}, {'connected_gene': 'ABCC5-AS1', 'score': 10.49}, {'connected_gene': 'ABCC5', 'score': 10.28}, {'connected_gene': 'HTR3C', 'score': 9.68}, {'connected_gene': 'CAMK2N2', 'score': 9.68}, {'connected_gene': 'EIF4G1', 'score': 8.74}]
chr3	GH03I184154	184154314	184158479	2.18	[{'connected_gene': 'DVL3', 'score': 569.57}, {'connected_gene': 'EIF2B5', 'score': 22.29}, {'connected_gene': 'RPS3P3', 'score': 12.65}, {'connected_gene': 'POLR2H', 'score': 11.15}, {'connected_gene': 'ECE2', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 10.63}, {'connected_gene': 'ALG3', 'score': 10.63}, {'connected_gene': 'EEF1AKMT4', 'score': 10.63}, {'connected_gene': 'ABCF3', 'score': 10.59}, {'connected_gene': 'CAMK2N2', 'score': 10.59}, {'connected_gene': 'PSMD2', 'score': 10.5}, {'connected_gene': 'VWA5B2', 'score': 10.44}, {'connected_gene': 'MIR1224', 'score': 10.42}, {'connected_gene': 'EIF4G1', 'score': 10.29}, {'connected_gene': 'SNORD66', 'score': 10.29}, {'connected_gene': 'HTR3C', 'score': 10.17}, {'connected_gene': 'HTR3E-AS1', 'score': 10.09}, {'connected_gene': 'FAM131A', 'score': 10.06}, {'connected_gene': 'PARL', 'score': 9.84}, {'connected_gene': 'RPSAP31', 'score': 9.84}, {'connected_gene': 'AP2M1', 'score': 0.37}]
chr3	GH03I184052	184052967	184053026	0.5	[{'connected_gene': 'HTR3C', 'score': 550.77}, {'connected_gene': 'HTR3D', 'score': 0.34}]
chr3	GH03I183991	183991453	183991722	0.54	[{'connected_gene': 'HTR3C', 'score': 10.37}, {'connected_gene': 'ABCC5-AS1', 'score': 0.39}, {'connected_gene': 'ABCC5', 'score': 0.31}, {'connected_gene': 'PIR62380', 'score': 0.19}]
chr3	GH03I183966	183966453	183966602	0.68	[{'connected_gene': 'ABCC5-AS1', 'score': 11.53}, {'connected_gene': 'HTR3C', 'score': 10.62}, {'connected_gene': 'PARL', 'score': 10.48}, {'connected_gene': 'RPSAP31', 'score': 10.48}, {'connected_gene': 'HTR3E-AS1', 'score': 10.18}, {'connected_gene': 'EIF2B5', 'score': 10.17}, {'connected_gene': 'PSMD2', 'score': 10.14}, {'connected_gene': 'CAMK2N2', 'score': 9.79}, {'connected_gene': 'PIR62380', 'score': 0.25}, {'connected_gene': 'ABCC5', 'score': 0.23}]
chr3	GH03I183967	183967833	183967982	0.56	[{'connected_gene': 'ABCC5-AS1', 'score': 11.53}, {'connected_gene': 'HTR3C', 'score': 10.62}, {'connected_gene': 'PARL', 'score': 10.48}, {'connected_gene': 'RPSAP31', 'score': 10.48}, {'connected_gene': 'HTR3E-AS1', 'score': 10.18}, {'connected_gene': 'EIF2B5', 'score': 10.17}, {'connected_gene': 'PSMD2', 'score': 10.14}, {'connected_gene': 'CAMK2N2', 'score': 9.79}, {'connected_gene': 'PIR62380', 'score': 0.25}, {'connected_gene': 'ABCC5', 'score': 0.23}]
chr3	GH03I184005	184005573	184007200	1.11	[{'connected_gene': 'ABCC5-AS1', 'score': 550.77}, {'connected_gene': 'ABCC5', 'score': 13.99}, {'connected_gene': 'EEF1A1P8', 'score': 11.23}, {'connected_gene': 'HTR3D', 'score': 11.21}, {'connected_gene': 'HTR3C', 'score': 10.07}, {'connected_gene': 'PARL', 'score': 9.73}, {'connected_gene': 'RPSAP31', 'score': 9.73}, {'connected_gene': 'EIF2B5', 'score': 9.36}, {'connected_gene': 'CAMK2N2', 'score': 8.97}, {'connected_gene': 'MAP6D1', 'score': 5.03}]
chr3	GH03I184008	184008001	184008200	0.43	[{'connected_gene': 'ABCC5-AS1', 'score': 550.77}, {'connected_gene': 'ABCC5', 'score': 13.93}, {'connected_gene': 'HTR3D', 'score': 11.07}, {'connected_gene': 'HTR3C', 'score': 10.21}, {'connected_gene': 'EIF2B5', 'score': 9.7}, {'connected_gene': 'CAMK2N2', 'score': 9.56}]
chr3	GH03I184015	184015198	184018806	2.28	[{'connected_gene': 'ABCC5', 'score': 564.36}, {'connected_gene': 'YEATS2', 'score': 13.5}, {'connected_gene': 'HTR3C', 'score': 10.57}, {'connected_gene': 'EIF2B5', 'score': 9.98}, {'connected_gene': 'AP2M1', 'score': 9.97}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'CAMK2N2', 'score': 9.61}, {'connected_gene': 'ECE2', 'score': 9.4}, {'connected_gene': 'EEF1AKMT4', 'score': 9.4}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.4}, {'connected_gene': 'ABCC5-AS1', 'score': 0.39}]
chr3	GH03I183913	183912883	183915650	0.71	[{'connected_gene': 'ABCC5', 'score': 22.74}, {'connected_gene': 'PARL', 'score': 20.39}, {'connected_gene': 'RPSAP31', 'score': 11.08}, {'connected_gene': 'EIF2B5', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.42}, {'connected_gene': 'HTR3C', 'score': 10.19}, {'connected_gene': 'CAMK2N2', 'score': 9.85}, {'connected_gene': 'MAP6D1', 'score': 4.77}, {'connected_gene': 'CYP2AB1P', 'score': 0.77}, {'connected_gene': 'PIR62380', 'score': 0.44}]
chr3	GH03I183916	183915713	183915737	0.43	[{'connected_gene': 'ABCC5', 'score': 11.07}, {'connected_gene': 'PARL', 'score': 11.06}, {'connected_gene': 'RPSAP31', 'score': 11.06}, {'connected_gene': 'EIF2B5', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.42}, {'connected_gene': 'HTR3C', 'score': 10.19}, {'connected_gene': 'CAMK2N2', 'score': 9.85}, {'connected_gene': 'CYP2AB1P', 'score': 0.77}, {'connected_gene': 'PIR62380', 'score': 0.44}]
chr3	GH03I183915	183915753	183915862	0.38	[{'connected_gene': 'ABCC5', 'score': 16.43}, {'connected_gene': 'PARL', 'score': 11.06}, {'connected_gene': 'RPSAP31', 'score': 11.06}, {'connected_gene': 'EIF2B5', 'score': 10.56}, {'connected_gene': 'VWA5B2', 'score': 10.42}, {'connected_gene': 'HTR3C', 'score': 10.19}, {'connected_gene': 'CAMK2N2', 'score': 9.85}, {'connected_gene': 'CYP2AB1P', 'score': 0.77}, {'connected_gene': 'PIR62380', 'score': 0.44}]
chr3	GH03I184022	184022046	184023000	0.82	[{'connected_gene': 'ABCC5', 'score': 18.49}, {'connected_gene': 'HTR3C', 'score': 12.07}, {'connected_gene': 'PARL', 'score': 10.76}, {'connected_gene': 'RPSAP31', 'score': 10.76}, {'connected_gene': 'EIF2B5', 'score': 10.52}, {'connected_gene': 'CAMK2N2', 'score': 9.98}, {'connected_gene': 'ALG3', 'score': 9.69}, {'connected_gene': 'ECE2', 'score': 9.39}, {'connected_gene': 'EEF1AKMT4', 'score': 9.39}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.39}, {'connected_gene': 'PSMD2', 'score': 6.04}, {'connected_gene': 'KLHL6', 'score': 4.22}, {'connected_gene': 'FAM131A', 'score': 2.48}, {'connected_gene': 'PIR46451', 'score': 0.44}]
chr3	GH03I183975	183975770	183978485	0.97	[{'connected_gene': 'ABCC5', 'score': 21.64}, {'connected_gene': 'HTR3C', 'score': 10.62}, {'connected_gene': 'PARL', 'score': 10.56}, {'connected_gene': 'RPSAP31', 'score': 10.56}, {'connected_gene': 'HTR3E-AS1', 'score': 10.29}, {'connected_gene': 'EIF2B5', 'score': 10.19}, {'connected_gene': 'EIF4G1', 'score': 9.98}, {'connected_gene': 'FAM131A', 'score': 9.98}, {'connected_gene': 'VWA5B2', 'score': 9.98}, {'connected_gene': 'CAMK2N2', 'score': 9.86}, {'connected_gene': 'PSMD2', 'score': 9.54}, {'connected_gene': 'ECE2', 'score': 9.52}, {'connected_gene': 'EEF1AKMT4-ECE2', 'score': 9.52}, {'connected_gene': 'ALG3', 'score': 9.52}, {'connected_gene': 'EEF1AKMT4', 'score': 9.52}, {'connected_gene': 'MIR1224', 'score': 9.51}, {'connected_gene': 'ABCC5-AS1', 'score': 0.31}, {'connected_gene': 'PIR62380', 'score': 0.22}]