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
ENST00000503338	[[133317018, 133317474], [133327378, 133327540]]	None
ENST00000503464	[[133317018, 133317306], [133317399, 133317474], [133327378, 133327540]]	None
ENST00000260810	[[133319416, 133320237], [133327378, 133327540], [133327716, 133327806], [133329847, 133329985], [133331232, 133331396], [133335657, 133335769], [133336003, 133336170], [133337056, 133337277], [133338998, 133339191], [133341934, 133342037], [133342154, 133342301], [133342895, 133343019], [133347205, 133347315], [133347403, 133347577], [133356719, 133357006], [133358802, 133359014], [133362043, 133362216], [133362863, 133363207], [133368226, 133368477], [133368623, 133368787], [133371306, 133371473], [133372188, 133372368], [133374133, 133374330], [133375519, 133375701], [133376641, 133376785], [133377859, 133377994], [133379887, 133379978], [133380612, 133380737]]	[[133320093, 133320237], [133327378, 133327540], [133327716, 133327806], [133329847, 133329985], [133331232, 133331396], [133335657, 133335769], [133336003, 133336170], [133337056, 133337277], [133338998, 133339191], [133341934, 133342037], [133342154, 133342301], [133342895, 133343019], [133347205, 133347315], [133347403, 133347577], [133356719, 133357006], [133358802, 133359014], [133362043, 133362216], [133362863, 133363207], [133368226, 133368477], [133368623, 133368787], [133371306, 133371473], [133372188, 133372368], [133374133, 133374330], [133375519, 133375701], [133376641, 133376785], [133377859, 133377994], [133379887, 133379971]]
ENST00000505804	[[133335664, 133335769], [133336003, 133336370]]	None
ENST00000513818	[[133336976, 133337277], [133338998, 133339191], [133341934, 133342037], [133342154, 133342301], [133342895, 133343019], [133347205, 133347235]]	None
ENST00000506779	[[133346950, 133347315], [133347403, 133347574]]	None
ENST00000511439	[[133362940, 133363207], [133368226, 133368477], [133368623, 133368787], [133372188, 133372368], [133374133, 133374330], [133375519, 133375602]]	None
ENST00000509162	[[133362956, 133363207], [133368226, 133368786]]	None
ENST00000572787	[[133368448, 133368477], [133368623, 133368787], [133371306, 133371391], [133372188, 133372312]]	[[133371362, 133371391], [133372188, 133372312]]
ENST00000508524	[[133368777, 133368787], [133371306, 133371458], [133372188, 133372368], [133374133, 133374330], [133375519, 133375598]]	[[133368777, 133368787], [133371306, 133371458], [133372188, 133372368], [133374133, 133374330], [133375519, 133375598]]
NM_007027	[[133319448, 133320237], [133327378, 133327540], [133327716, 133327806], [133329847, 133329985], [133331232, 133331396], [133335657, 133335769], [133336003, 133336170], [133337056, 133337277], [133338998, 133339191], [133341934, 133342037], [133342154, 133342301], [133342895, 133343019], [133347205, 133347315], [133347403, 133347577], [133356719, 133357006], [133358802, 133359014], [133362043, 133362216], [133362863, 133363207], [133368226, 133368477], [133368623, 133368787], [133371306, 133371473], [133372188, 133372368], [133374133, 133374330], [133375519, 133375701], [133376641, 133376785], [133377859, 133377994], [133379887, 133379978], [133380612, 133380737]]	[[133320093, 133320237], [133327378, 133327540], [133327716, 133327806], [133329847, 133329985], [133331232, 133331396], [133335657, 133335769], [133336003, 133336170], [133337056, 133337277], [133338998, 133339191], [133341934, 133342037], [133342154, 133342301], [133342895, 133343019], [133347205, 133347315], [133347403, 133347577], [133356719, 133357006], [133358802, 133359014], [133362043, 133362216], [133362863, 133363207], [133368226, 133368477], [133368623, 133368787], [133371306, 133371473], [133372188, 133372368], [133374133, 133374330], [133375519, 133375701], [133376641, 133376785], [133377859, 133377994], [133379887, 133379971]]

Promoter

Chrom	Start	End	Description
chr3	133380677	133380690	CAGE_peak_3_at_TOPBP1_5end
chr3	133380696	133380713	CAGE_peak_2_at_TOPBP1_5end
chr3	133380731	133380834	CAGE_peak_1_at_TOPBP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I133479	133479537	133480774	1.13	[{'connected_gene': 'BFSP2-AS1', 'score': 11.98}, {'connected_gene': 'ENSG00000250983', 'score': 11.82}, {'connected_gene': 'ENSG00000201827', 'score': 11.81}, {'connected_gene': 'CDV3', 'score': 11.53}, {'connected_gene': 'TFP1', 'score': 10.34}, {'connected_gene': 'TOPBP1', 'score': 10.34}, {'connected_gene': 'BFSP2', 'score': 9.7}, {'connected_gene': 'GC03P133482', 'score': 0.77}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}]
chr3	GH03I133441	133441304	133466097	1.39	[{'connected_gene': 'BFSP2', 'score': 19.61}, {'connected_gene': 'CDV3', 'score': 11.95}, {'connected_gene': 'TFP1', 'score': 10.69}, {'connected_gene': 'TOPBP1', 'score': 10.69}, {'connected_gene': 'RNU6-678P', 'score': 10.26}, {'connected_gene': 'BFSP2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000249820', 'score': 0.26}]
chr3	GH03I133466	133466279	133468755	0.96	[{'connected_gene': 'BFSP2', 'score': 19.87}, {'connected_gene': 'TOPBP1', 'score': 10.31}, {'connected_gene': 'RNU6-678P', 'score': 9.47}, {'connected_gene': 'TFP1', 'score': 4.21}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}, {'connected_gene': 'BFSP2-AS1', 'score': 0.39}]
chr3	GH03I132731	132731257	132731326	0.52	[{'connected_gene': 'BFSP2', 'score': 10.18}, {'connected_gene': 'TFP1', 'score': 9.7}, {'connected_gene': 'TOPBP1', 'score': 9.7}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.44}, {'connected_gene': 'NPHP3-AS1', 'score': 0.44}, {'connected_gene': 'NPHP3', 'score': 0.44}, {'connected_gene': 'LOC105374115', 'score': 0.19}]
chr3	GH03I134225	134224401	134224600	0.75	[{'connected_gene': 'RYK', 'score': 23.42}, {'connected_gene': 'TOPBP1', 'score': 15.92}, {'connected_gene': 'C3orf36', 'score': 10.49}, {'connected_gene': 'GC03P134171', 'score': 0.23}]
chr3	GH03I134224	134224617	134224626	0.72	[{'connected_gene': 'RYK', 'score': 23.42}, {'connected_gene': 'TOPBP1', 'score': 15.92}, {'connected_gene': 'C3orf36', 'score': 10.49}, {'connected_gene': 'GC03P134171', 'score': 0.23}]
chr3	GH03I133494	133494597	133494746	0.58	[{'connected_gene': 'CDV3', 'score': 11.62}, {'connected_gene': 'BFSP2-AS1', 'score': 10.9}, {'connected_gene': 'TOPBP1', 'score': 10.28}, {'connected_gene': 'BFSP2', 'score': 10.15}, {'connected_gene': 'TFP1', 'score': 9.81}, {'connected_gene': 'GC03P133492', 'score': 0.77}, {'connected_gene': 'ENSG00000272832', 'score': 0.25}]
chr3	GH03I133495	133495776	133496481	0.2	[{'connected_gene': 'CDV3', 'score': 12.22}, {'connected_gene': 'ENSG00000250983', 'score': 12.22}, {'connected_gene': 'ENSG00000201827', 'score': 12.21}, {'connected_gene': 'BFSP2-AS1', 'score': 11.56}, {'connected_gene': 'TFP1', 'score': 10.05}, {'connected_gene': 'TOPBP1', 'score': 10.05}, {'connected_gene': 'GC03P133492', 'score': 0.44}, {'connected_gene': 'ENSG00000272832', 'score': 0.25}]
chr3	GH03I134347	134347217	134376466	2.71	[{'connected_gene': 'AMOTL2', 'score': 553.54}, {'connected_gene': 'ENSG00000260633', 'score': 60.85}, {'connected_gene': 'RYK', 'score': 24.55}, {'connected_gene': 'TOPBP1', 'score': 10.59}, {'connected_gene': 'TFP1', 'score': 10.24}, {'connected_gene': 'RAB6B', 'score': 5.04}, {'connected_gene': 'RPL39P5', 'score': 0.44}, {'connected_gene': 'MIR6827', 'score': 0.44}]
chr3	GH03I134482	134482220	134488247	2.49	[{'connected_gene': 'ANAPC13', 'score': 624.43}, {'connected_gene': 'CEP63', 'score': 583.07}, {'connected_gene': 'TOPBP1', 'score': 20.59}, {'connected_gene': 'RYK', 'score': 12.27}, {'connected_gene': 'MIR4788', 'score': 0.25}]
chr3	GH03I133211	133211495	133212781	0.73	[{'connected_gene': 'TOPBP1', 'score': 15.24}, {'connected_gene': 'TMEM108-AS1', 'score': 10.64}, {'connected_gene': 'TMEM108', 'score': 0.09}]
chr3	GH03I133663	133663601	133664199	0.98	[{'connected_gene': 'TOPBP1', 'score': 554.96}, {'connected_gene': 'TFP1', 'score': 550.77}, {'connected_gene': 'TF', 'score': 550.77}, {'connected_gene': 'RNU6-678P', 'score': 550.77}]
chr3	GH03I133660	133660049	133663028	1.97	[{'connected_gene': 'TOPBP1', 'score': 565.61}, {'connected_gene': 'TFP1', 'score': 558.73}, {'connected_gene': 'TF', 'score': 555.1}, {'connected_gene': 'GC03P133653', 'score': 0.44}]
chr3	GH03I133742	133742480	133743248	1.34	[{'connected_gene': 'RNU6-678P', 'score': 10.22}, {'connected_gene': 'TOPBP1', 'score': 10.21}, {'connected_gene': 'TF', 'score': 7.84}, {'connected_gene': 'PIR42738', 'score': 0.44}, {'connected_gene': 'LOC100421637', 'score': 0.37}, {'connected_gene': 'TFP1', 'score': 0.18}]
chr3	GH03I134056	134056583	134058679	0.75	[{'connected_gene': 'LINC02000', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 12.28}, {'connected_gene': 'TFP1', 'score': 10.27}, {'connected_gene': 'TOPBP1', 'score': 10.24}, {'connected_gene': 'SLCO2A1', 'score': 0.44}]
chr3	GH03I133620	133620177	133620326	0.72	[{'connected_gene': 'TFP1', 'score': 11.64}, {'connected_gene': 'TOPBP1', 'score': 11.64}, {'connected_gene': 'BFSP2-AS1', 'score': 10.61}, {'connected_gene': 'GC03P133653', 'score': 0.29}, {'connected_gene': 'CDV3', 'score': 0.25}]
chr3	GH03I133591	133591108	133592000	0.79	[{'connected_gene': 'TFP1', 'score': 17.69}, {'connected_gene': 'TOPBP1', 'score': 11.22}, {'connected_gene': 'BFSP2-AS1', 'score': 10.9}, {'connected_gene': 'RNU6-678P', 'score': 10.45}, {'connected_gene': 'BFSP2', 'score': 9.91}, {'connected_gene': 'CDV3', 'score': 0.37}, {'connected_gene': 'GC03P133653', 'score': 0.21}]
chr3	GH03I133469	133469336	133469698	1.08	[{'connected_gene': 'TFP1', 'score': 10.31}, {'connected_gene': 'TOPBP1', 'score': 10.31}, {'connected_gene': 'BFSP2', 'score': 10.16}, {'connected_gene': 'RNU6-678P', 'score': 9.47}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}, {'connected_gene': 'BFSP2-AS1', 'score': 0.39}]
chr3	GH03I133609	133609574	133609833	0.31	[{'connected_gene': 'TFP1', 'score': 11.5}, {'connected_gene': 'TOPBP1', 'score': 11.5}, {'connected_gene': 'TF', 'score': 4.48}, {'connected_gene': 'CDV3', 'score': 0.28}, {'connected_gene': 'GC03P133653', 'score': 0.26}]
chr3	GH03I132703	132703817	132703966	0.2	[{'connected_gene': 'TFP1', 'score': 10.38}, {'connected_gene': 'TOPBP1', 'score': 10.38}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.37}, {'connected_gene': 'NPHP3-AS1', 'score': 0.37}, {'connected_gene': 'NPHP3', 'score': 0.37}, {'connected_gene': 'ACAD11', 'score': 0.26}]
chr3	GH03I133473	133473769	133479231	1.19	[{'connected_gene': 'GC03P133476', 'score': 550.77}, {'connected_gene': 'GC03P133475', 'score': 550.77}, {'connected_gene': 'BFSP2', 'score': 14.45}, {'connected_gene': 'BFSP2-AS1', 'score': 11.98}, {'connected_gene': 'ENSG00000250983', 'score': 11.82}, {'connected_gene': 'ENSG00000201827', 'score': 11.81}, {'connected_gene': 'CDV3', 'score': 11.52}, {'connected_gene': 'TFP1', 'score': 10.33}, {'connected_gene': 'TOPBP1', 'score': 10.33}, {'connected_gene': 'GC03P133482', 'score': 0.44}]
chr3	GH03I133488	133488665	133493560	1.18	[{'connected_gene': 'GC03P133492', 'score': 550.77}, {'connected_gene': 'LOC391578', 'score': 550.77}, {'connected_gene': 'CDV3', 'score': 12.38}, {'connected_gene': 'BFSP2-AS1', 'score': 11.7}, {'connected_gene': 'TOPBP1', 'score': 10.32}, {'connected_gene': 'TFP1', 'score': 10.25}, {'connected_gene': 'BFSP2', 'score': 10.15}, {'connected_gene': 'ENSG00000272832', 'score': 0.23}]
chr3	GH03I133644	133644877	133645086	0.77	[{'connected_gene': 'GC03P133653', 'score': 0.44}, {'connected_gene': 'TOPBP1', 'score': 0.37}, {'connected_gene': 'CDV3', 'score': 0.19}]