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
ENST00000316878	[[48211103, 48212749], [48212917, 48213014], [48213332, 48213562], [48216627, 48216681], [48216793, 48216946], [48217457, 48217593], [48218633, 48218738], [48220962, 48221083], [48222477, 48222610], [48226507, 48227383], [48227384, 48227402], [48227403, 48227877]]	[[48212695, 48212749], [48212917, 48213014], [48213332, 48213562], [48216627, 48216681], [48216793, 48216946], [48217457, 48217593], [48218633, 48218738], [48220962, 48221083], [48222477, 48222610], [48226507, 48227383], [48227384, 48227402], [48227403, 48227874]]
ENST00000501501	[[48211104, 48212749], [48212917, 48213014], [48213332, 48213562], [48216627, 48216681], [48216793, 48216946], [48217457, 48217593], [48218633, 48218738], [48220962, 48221083], [48222477, 48222610], [48226507, 48227991]]	None
ENST00000513579	[[48216824, 48216946], [48217457, 48217724], [48218633, 48218738], [48220962, 48221083], [48222477, 48222517]]	None
NM_032595	[[48211098, 48212749], [48212917, 48213014], [48213332, 48213562], [48216627, 48216681], [48216793, 48216946], [48217457, 48217593], [48218633, 48218738], [48220962, 48221083], [48222477, 48222610], [48226507, 48227384], [48227385, 48227403], [48227404, 48227878]]	[[48212695, 48212749], [48212917, 48213014], [48213332, 48213562], [48216627, 48216681], [48216793, 48216946], [48217457, 48217593], [48218633, 48218738], [48220962, 48221083], [48222477, 48222610], [48226507, 48227384], [48227385, 48227403], [48227404, 48227874]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I050144	50144455	50156019	2.66	[{'connected_gene': 'PPP1R9B', 'score': 558.47}, {'connected_gene': 'ENSG00000250282', 'score': 11.04}, {'connected_gene': 'PDK2', 'score': 11.01}, {'connected_gene': 'SAMD14', 'score': 10.99}, {'connected_gene': 'PICART1', 'score': 6.9}, {'connected_gene': 'SPATA20', 'score': 1.57}, {'connected_gene': 'ENSG00000236472', 'score': 0.39}]
chr17	GH17I049712	49712203	49718257	1	[{'connected_gene': 'FLJ45513', 'score': 15.94}, {'connected_gene': 'KAT7', 'score': 3.29}, {'connected_gene': 'PPP1R9B', 'score': 1.29}, {'connected_gene': 'ENSG00000250751', 'score': 0.44}, {'connected_gene': 'SLC35B1', 'score': 0.44}, {'connected_gene': 'GC17P049768', 'score': 0.23}, {'connected_gene': 'FAM117A', 'score': 0.19}]
chr17	GH17I049735	49735428	49751006	1.98	[{'connected_gene': 'LUC7L3', 'score': 36.51}, {'connected_gene': 'ENSG00000262837', 'score': 32.97}, {'connected_gene': 'FAM117A', 'score': 23.72}, {'connected_gene': 'UBE2Z', 'score': 23.06}, {'connected_gene': 'FLJ45513', 'score': 21.21}, {'connected_gene': 'NXPH3', 'score': 20.22}, {'connected_gene': 'ZNF652', 'score': 15.18}, {'connected_gene': 'KAT7', 'score': 13.28}, {'connected_gene': 'ENSG00000230532', 'score': 12.43}, {'connected_gene': 'SLC35B1', 'score': 11.71}, {'connected_gene': 'LOC105371824', 'score': 11.68}, {'connected_gene': 'TAC4', 'score': 11.09}, {'connected_gene': 'COL1A1', 'score': 10.84}, {'connected_gene': 'CALCOCO2', 'score': 10.3}, {'connected_gene': 'LOC100288866', 'score': 10.19}, {'connected_gene': 'CACNA1G-AS1', 'score': 9.86}, {'connected_gene': 'XYLT2', 'score': 9.85}, {'connected_gene': 'SPOP', 'score': 6.07}, {'connected_gene': 'SAMD14', 'score': 4.98}, {'connected_gene': 'ENSG00000248954', 'score': 4.67}, {'connected_gene': 'PPP1R9B', 'score': 3.4}, {'connected_gene': 'DLX4', 'score': 3.0}, {'connected_gene': 'GC17P049768', 'score': 0.31}]
chr17	GH17I050132	50132560	50133933	1.02	[{'connected_gene': 'PDK2', 'score': 16.82}, {'connected_gene': 'ENSG00000253730', 'score': 12.45}, {'connected_gene': 'SGCA', 'score': 12.44}, {'connected_gene': 'HILS1', 'score': 12.39}, {'connected_gene': 'ENSG00000250282', 'score': 11.81}, {'connected_gene': 'SAMD14', 'score': 0.77}, {'connected_gene': 'ENSG00000236472', 'score': 0.77}, {'connected_gene': 'PPP1R9B', 'score': 0.37}]
chr17	GH17I050171	50171538	50213505	2.83	[{'connected_gene': 'COL1A1', 'score': 566.88}, {'connected_gene': 'SGCA', 'score': 58.54}, {'connected_gene': 'ENSG00000262837', 'score': 27.65}, {'connected_gene': 'LUC7L3', 'score': 23.95}, {'connected_gene': 'TMEM92-AS1', 'score': 17.13}, {'connected_gene': 'TMEM92', 'score': 13.28}, {'connected_gene': 'XYLT2', 'score': 13.27}, {'connected_gene': 'ZNF652', 'score': 12.76}, {'connected_gene': 'PPP1R9B', 'score': 12.76}, {'connected_gene': 'FLJ45513', 'score': 12.56}, {'connected_gene': 'ENSG00000253730', 'score': 12.08}, {'connected_gene': 'LOC105371824', 'score': 11.77}, {'connected_gene': 'MYCBPAP', 'score': 11.21}, {'connected_gene': 'EIF4EP2', 'score': 11.04}, {'connected_gene': 'SAMD14', 'score': 11.0}, {'connected_gene': 'ENSG00000250282', 'score': 10.96}, {'connected_gene': 'PDK2', 'score': 10.95}, {'connected_gene': 'FAM117A', 'score': 10.67}, {'connected_gene': 'ACSF2', 'score': 9.86}, {'connected_gene': 'CHAD', 'score': 9.85}, {'connected_gene': 'HILS1', 'score': 6.09}, {'connected_gene': 'LRRC59', 'score': 3.17}, {'connected_gene': 'ENSG00000249406', 'score': 0.37}, {'connected_gene': 'LOC105371820', 'score': 0.34}]
chr17	GH17I049687	49687048	49689514	1.49	[{'connected_gene': 'NXPH3', 'score': 11.61}, {'connected_gene': 'LOC100288866', 'score': 11.61}, {'connected_gene': 'SLC35B1', 'score': 11.42}, {'connected_gene': 'PHB', 'score': 10.76}, {'connected_gene': 'RPL21P124', 'score': 10.24}, {'connected_gene': 'ENSG00000250186', 'score': 10.24}, {'connected_gene': 'FAM117A', 'score': 5.97}, {'connected_gene': 'SPOP', 'score': 5.55}, {'connected_gene': 'PHOSPHO1', 'score': 5.18}, {'connected_gene': 'SAMD14', 'score': 4.97}, {'connected_gene': 'KAT7', 'score': 2.33}, {'connected_gene': 'ZNF652', 'score': 1.61}, {'connected_gene': 'GNGT2', 'score': 1.33}, {'connected_gene': 'PPP1R9B', 'score': 1.21}, {'connected_gene': 'ABI3', 'score': 1.14}, {'connected_gene': 'GC17P049692', 'score': 0.77}]
chr17	GH17I050288	50288084	50291557	1.54	[{'connected_gene': 'TMEM92-AS1', 'score': 550.77}, {'connected_gene': 'KAT7', 'score': 12.43}, {'connected_gene': 'COL1A1', 'score': 11.95}, {'connected_gene': 'HILS1', 'score': 10.72}, {'connected_gene': 'SGCA', 'score': 10.71}, {'connected_gene': 'ENSG00000253730', 'score': 10.71}, {'connected_gene': 'MBTD1', 'score': 10.69}, {'connected_gene': 'ENSG00000248172', 'score': 9.4}, {'connected_gene': 'DLX3', 'score': 9.4}, {'connected_gene': 'PPP1R9B', 'score': 1.21}, {'connected_gene': 'XYLT2', 'score': 0.22}]
chr17	GH17I050139	50139496	50142794	1.38	[{'connected_gene': 'ENSG00000262837', 'score': 23.7}, {'connected_gene': 'LUC7L3', 'score': 13.71}, {'connected_gene': 'SAMD14', 'score': 10.87}, {'connected_gene': 'FLJ45513', 'score': 10.04}, {'connected_gene': 'ENSG00000236472', 'score': 0.44}, {'connected_gene': 'PPP1R9B', 'score': 0.44}]
chr17	GH17I050136	50136633	50138388	0.46	[{'connected_gene': 'ENSG00000236472', 'score': 550.77}, {'connected_gene': 'SAMD14', 'score': 11.95}, {'connected_gene': 'PPP1R9B', 'score': 0.39}]