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
ENST00000263269	[[48898131, 48898193], [48901623, 48902114], [48907990, 48908610], [48917247, 48917362], [48917629, 48917841], [48918120, 48918289], [48919258, 48919412], [48922490, 48922616], [48922841, 48923071], [48925041, 48925202], [48945025, 48945213], [48945406, 48945639], [48945856, 48948188]]	[[48901649, 48902114], [48907990, 48908610], [48917247, 48917362], [48917629, 48917841], [48918120, 48918289], [48919258, 48919412], [48922490, 48922616], [48922841, 48923071], [48925041, 48925202], [48945025, 48945213], [48945406, 48945639], [48945856, 48947194]]
NM_000836	[[48898131, 48898193], [48901623, 48902114], [48907990, 48908610], [48917247, 48917362], [48917629, 48917841], [48918120, 48918289], [48919258, 48919412], [48922490, 48922616], [48922841, 48923071], [48925041, 48925202], [48945025, 48945213], [48945406, 48945639], [48945856, 48948188]]	[[48901649, 48902114], [48907990, 48908610], [48917247, 48917362], [48917629, 48917841], [48918120, 48918289], [48919258, 48919412], [48922490, 48922616], [48922841, 48923071], [48925041, 48925202], [48945025, 48945213], [48945406, 48945639], [48945856, 48947194]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048283	48283405	48285360	0.6	[{'connected_gene': 'CCDC114', 'score': 13.6}, {'connected_gene': 'TMEM143', 'score': 11.45}, {'connected_gene': 'SYNGR4', 'score': 11.45}, {'connected_gene': 'LMTK3', 'score': 10.9}, {'connected_gene': 'IZUMO1', 'score': 4.77}, {'connected_gene': 'GRIN2D', 'score': 4.73}, {'connected_gene': 'SPHK2', 'score': 4.58}, {'connected_gene': 'GC19P048288', 'score': 0.77}, {'connected_gene': 'ZNF114', 'score': 0.39}, {'connected_gene': 'LOC105372429', 'score': 0.39}]
chr19	GH19I048345	48344040	48344827	0.2	[{'connected_gene': 'CCDC114', 'score': 29.65}, {'connected_gene': 'GRIN2D', 'score': 5.4}, {'connected_gene': 'TMEM143', 'score': 0.37}]
chr19	GH19I048368	48368606	48369613	0.43	[{'connected_gene': 'CCDC114', 'score': 12.94}, {'connected_gene': 'SYNGR4', 'score': 0.77}, {'connected_gene': 'GRIN2D', 'score': 0.31}]
chr19	GH19I048319	48319834	48328049	2.31	[{'connected_gene': 'CCDC114', 'score': 561.54}, {'connected_gene': 'EMP3', 'score': 560.38}, {'connected_gene': 'KDELR1', 'score': 21.08}, {'connected_gene': 'SNORD23', 'score': 20.83}, {'connected_gene': 'NOP53', 'score': 20.81}, {'connected_gene': 'RPL18', 'score': 20.3}, {'connected_gene': 'BICRA', 'score': 17.58}, {'connected_gene': 'GRWD1', 'score': 12.96}, {'connected_gene': 'NOP53-AS1', 'score': 11.68}, {'connected_gene': 'TMEM143', 'score': 11.64}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CARD8-AS1', 'score': 6.36}, {'connected_gene': 'GRIN2D', 'score': 5.54}]
chr19	GH19I048444	48444611	48446938	2.07	[{'connected_gene': 'GRWD1', 'score': 582.15}, {'connected_gene': 'RPL18', 'score': 22.6}, {'connected_gene': 'KDELR1', 'score': 22.13}, {'connected_gene': 'NOP53', 'score': 21.72}, {'connected_gene': 'SNORD23', 'score': 21.54}, {'connected_gene': 'BAX', 'score': 20.42}, {'connected_gene': 'BICRA', 'score': 16.67}, {'connected_gene': 'SNRNP70', 'score': 15.0}, {'connected_gene': 'NOP53-AS1', 'score': 12.62}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CYTH2', 'score': 6.23}, {'connected_gene': 'KCNJ14', 'score': 4.78}, {'connected_gene': 'GRIN2D', 'score': 0.23}]
chr19	GH19I048424	48424384	48425770	1.31	[{'connected_gene': 'GRWD1', 'score': 12.53}, {'connected_gene': 'KCNJ14', 'score': 12.26}, {'connected_gene': 'CYTH2', 'score': 11.95}, {'connected_gene': 'SYNGR4', 'score': 11.57}, {'connected_gene': 'TMEM143', 'score': 11.57}, {'connected_gene': 'KDELR1', 'score': 0.31}, {'connected_gene': 'GRIN2D', 'score': 0.29}]
chr19	GH19I048413	48413726	48416400	0.93	[{'connected_gene': 'GRWD1', 'score': 6.14}, {'connected_gene': 'DKKL1', 'score': 4.33}, {'connected_gene': 'KDELR1', 'score': 0.37}, {'connected_gene': 'GRIN2D', 'score': 0.34}]
chr19	GH19I048403	48403203	48404373	1.08	[{'connected_gene': 'SNRNP70', 'score': 37.33}, {'connected_gene': 'BICRA', 'score': 30.24}, {'connected_gene': 'GRWD1', 'score': 18.76}, {'connected_gene': 'ENSG00000268093', 'score': 12.65}, {'connected_gene': 'TMEM143', 'score': 11.92}, {'connected_gene': 'SYNGR4', 'score': 11.92}, {'connected_gene': 'GRIN2D', 'score': 11.58}, {'connected_gene': 'NOP53-AS1', 'score': 10.59}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'CARD8', 'score': 5.75}, {'connected_gene': 'DKKL1', 'score': 4.81}, {'connected_gene': 'CARD8-AS1', 'score': 4.76}, {'connected_gene': 'KDELR1', 'score': 0.44}]
chr19	GH19I048340	48340153	48341840	0.62	[{'connected_gene': 'TMEM143', 'score': 11.01}, {'connected_gene': 'CCDC114', 'score': 7.29}, {'connected_gene': 'GRIN2D', 'score': 5.39}]
chr19	GH19I048328	48328771	48334560	2.02	[{'connected_gene': 'BICRA', 'score': 38.68}, {'connected_gene': 'GRWD1', 'score': 34.32}, {'connected_gene': 'TMEM143', 'score': 24.42}, {'connected_gene': 'SNRNP70', 'score': 23.11}, {'connected_gene': 'NOP53-AS1', 'score': 22.72}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'NOP53', 'score': 13.39}, {'connected_gene': 'KDELR1', 'score': 12.91}, {'connected_gene': 'RPL18', 'score': 12.9}, {'connected_gene': 'ZSWIM9', 'score': 12.76}, {'connected_gene': 'SYNGR4', 'score': 12.66}, {'connected_gene': 'EMP3', 'score': 11.33}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'RASIP1', 'score': 10.93}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'CYTH2', 'score': 10.44}, {'connected_gene': 'SNORD23', 'score': 10.4}, {'connected_gene': 'HSD17B14', 'score': 10.23}, {'connected_gene': 'CCDC114', 'score': 7.78}, {'connected_gene': 'CARD8', 'score': 7.55}, {'connected_gene': 'GRIN2D', 'score': 5.47}, {'connected_gene': 'ZNF114', 'score': 4.95}, {'connected_gene': 'CARD8-AS1', 'score': 4.93}, {'connected_gene': 'IZUMO1', 'score': 1.54}]
chr19	GH19I048393	48393125	48394988	1.79	[{'connected_gene': 'GRIN2D', 'score': 553.26}, {'connected_gene': 'CCDC114', 'score': 8.38}, {'connected_gene': 'CARD8-AS1', 'score': 4.28}, {'connected_gene': 'KDELR1', 'score': 0.77}, {'connected_gene': 'SYNGR4', 'score': 0.31}]
chr19	GH19I048351	48351200	48351601	1.26	[{'connected_gene': 'GRIN2D', 'score': 5.38}, {'connected_gene': 'TMEM143', 'score': 0.39}, {'connected_gene': 'CCDC114', 'score': 0.31}]
chr19	GH19I048418	48418284	48419764	1.13	[{'connected_gene': 'GRIN2D', 'score': 12.93}, {'connected_gene': 'SYNGR4', 'score': 12.01}, {'connected_gene': 'TMEM143', 'score': 12.01}, {'connected_gene': 'BAX', 'score': 10.85}, {'connected_gene': 'KDELR1', 'score': 0.34}, {'connected_gene': 'GRWD1', 'score': 0.31}]
chr19	GH19I048557	48557764	48559888	1.37	[{'connected_gene': 'GRIN2D', 'score': 5.67}, {'connected_gene': 'CARD8-AS1', 'score': 5.11}, {'connected_gene': 'ENSG00000268093', 'score': 4.77}, {'connected_gene': 'LIG1', 'score': 4.29}, {'connected_gene': 'SULT2B1', 'score': 0.44}, {'connected_gene': 'SPACA4', 'score': 0.25}]
chr19	GH19I048500	48500386	48502902	1.42	[{'connected_gene': 'SNORD35A', 'score': 48.64}, {'connected_gene': 'ALDH16A1', 'score': 47.61}, {'connected_gene': 'SNORD35B', 'score': 42.35}, {'connected_gene': 'NOP53-AS1', 'score': 41.01}, {'connected_gene': 'NOP53', 'score': 34.9}, {'connected_gene': 'KDELR1', 'score': 34.48}, {'connected_gene': 'GRWD1', 'score': 33.92}, {'connected_gene': 'BICRA', 'score': 32.17}, {'connected_gene': 'RPL13A', 'score': 31.69}, {'connected_gene': 'RPS11', 'score': 30.71}, {'connected_gene': 'PIH1D1', 'score': 18.74}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'CYTH2', 'score': 16.17}, {'connected_gene': 'RPL18', 'score': 13.82}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'SNRNP70', 'score': 11.28}, {'connected_gene': 'BAX', 'score': 11.05}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'CARD8', 'score': 10.93}, {'connected_gene': 'FLT3LG', 'score': 10.83}, {'connected_gene': 'GRIN2D', 'score': 5.45}, {'connected_gene': 'ENSG00000269814', 'score': 0.39}, {'connected_gene': 'LMTK3', 'score': 0.39}, {'connected_gene': 'GC19P048479', 'score': 0.34}]
chr19	GH19I048389	48389414	48392193	2.03	[{'connected_gene': 'KDELR1', 'score': 550.44}, {'connected_gene': 'GRWD1', 'score': 18.6}, {'connected_gene': 'NOP53-AS1', 'score': 17.02}, {'connected_gene': 'SNRNP70', 'score': 10.31}, {'connected_gene': 'BICRA', 'score': 10.07}, {'connected_gene': 'CYTH2', 'score': 9.9}, {'connected_gene': 'CCDC114', 'score': 7.93}, {'connected_gene': 'LOC101928295', 'score': 4.24}, {'connected_gene': 'GRIN2D', 'score': 0.77}, {'connected_gene': 'SYNGR4', 'score': 0.31}]
chr19	GH19I048395	48395557	48401881	1.55	[{'connected_gene': 'KDELR1', 'score': 572.99}, {'connected_gene': 'NOP53-AS1', 'score': 43.24}, {'connected_gene': 'GRWD1', 'score': 42.81}, {'connected_gene': 'BICRA', 'score': 42.43}, {'connected_gene': 'NOP53', 'score': 21.98}, {'connected_gene': 'CYTH2', 'score': 20.28}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'CCDC114', 'score': 12.37}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'SNRNP70', 'score': 11.99}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'GRIN2D', 'score': 11.18}, {'connected_gene': 'BAX', 'score': 11.03}, {'connected_gene': 'CARD8', 'score': 10.97}, {'connected_gene': 'PPP1R15A', 'score': 4.73}, {'connected_gene': 'CARD8-AS1', 'score': 4.56}, {'connected_gene': 'EMP3', 'score': 1.74}, {'connected_gene': 'FUT1', 'score': 1.46}, {'connected_gene': 'IZUMO1', 'score': 1.26}]
chr19	GH19I048479	48479647	48481528	0.92	[{'connected_gene': 'GC19P048479', 'score': 550.77}, {'connected_gene': 'GRWD1', 'score': 11.39}, {'connected_gene': 'GRIN2D', 'score': 5.9}, {'connected_gene': 'CYTH2', 'score': 0.39}, {'connected_gene': 'ENSG00000269814', 'score': 0.29}]