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
ENST00000262293	[[57232859, 57233166], [57247108, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57279929]]	[[57247113, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57278992]]
ENST00000578542	[[57233106, 57233166], [57247108, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57279118], [57281006, 57282066]]	[[57247113, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57278992]]
ENST00000580177	[[57233117, 57233166], [57247108, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57279104], [57280821, 57281213]]	[[57247113, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57278992]]
ENST00000578777	[[57233092, 57233166], [57238119, 57238237], [57240959, 57241025], [57247108, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271047]]	[[57247113, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271047]]
ENST00000577457	[[57233105, 57233166], [57240959, 57241025], [57247108, 57247180]]	[[57247113, 57247180]]
ENST00000582995	[[57233106, 57233166], [57238119, 57238237], [57247108, 57247241], [57262414, 57262565], [57262800, 57262874]]	[[57238161, 57238237], [57247108, 57247241], [57262414, 57262565], [57262800, 57262874]]
ENST00000581182	[[57233113, 57233166], [57247108, 57247241], [57262414, 57262923]]	None
ENST00000582004	[[57274913, 57274964], [57275053, 57275234]]	[[57274913, 57274964], [57275053, 57275162]]
NM_018304	[[57232859, 57233166], [57247108, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57284070]]	[[57247113, 57247241], [57262414, 57262565], [57262800, 57262923], [57270852, 57271095], [57272117, 57272216], [57272691, 57272804], [57274904, 57274964], [57275053, 57275150], [57278923, 57278992]]

Promoter

Chrom	Start	End	Description
chr17	57232690	57232718	CAGE_peak_5_at_PRR11_5end
chr17	57233023	57233037	CAGE_peak_3_at_PRR11_5end
chr17	57233046	57233064	CAGE_peak_2_at_PRR11_5end
chr17	57233087	57233146	CAGE_peak_1_at_PRR11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I059667	59667436	59671056	1.06	[{'connected_gene': 'VMP1', 'score': 11.76}, {'connected_gene': 'PTRH2', 'score': 11.76}, {'connected_gene': 'RPS6KB1', 'score': 10.94}, {'connected_gene': 'TUBD1', 'score': 10.94}, {'connected_gene': 'HEATR6', 'score': 9.54}, {'connected_gene': 'PRR11', 'score': 4.77}, {'connected_gene': 'GC17M059649', 'score': 0.44}, {'connected_gene': 'CLTC', 'score': 0.25}, {'connected_gene': 'ENSG00000273702', 'score': 0.25}]
chr17	GH17I059641	59641801	59643729	1.17	[{'connected_gene': 'NDUFB8P2', 'score': 14.14}, {'connected_gene': 'RPS6KB1', 'score': 13.4}, {'connected_gene': 'PPM1D', 'score': 12.98}, {'connected_gene': 'TUBD1', 'score': 11.45}, {'connected_gene': 'HEATR6', 'score': 10.25}, {'connected_gene': 'DHX40', 'score': 6.91}, {'connected_gene': 'PRR11', 'score': 4.78}, {'connected_gene': 'ENSG00000274378', 'score': 4.67}, {'connected_gene': 'CLTC', 'score': 0.34}, {'connected_gene': 'ENSG00000273702', 'score': 0.34}, {'connected_gene': 'GC17M059649', 'score': 0.28}]
chr17	GH17I059686	59686106	59689561	0.59	[{'connected_gene': 'RPS6KB1', 'score': 11.36}, {'connected_gene': 'TUBD1', 'score': 11.36}, {'connected_gene': 'MIR21', 'score': 10.09}, {'connected_gene': 'RNU6-450P', 'score': 10.09}, {'connected_gene': 'DHX40', 'score': 5.42}, {'connected_gene': 'PRR11', 'score': 4.77}, {'connected_gene': 'GC17M059649', 'score': 0.44}, {'connected_gene': 'GC17P059695', 'score': 0.44}, {'connected_gene': 'PTRH2', 'score': 0.37}, {'connected_gene': 'CLTC', 'score': 0.2}]
chr17	GH17I059163	59163560	59163709	0.46	[{'connected_gene': 'RAD51C', 'score': 14.86}, {'connected_gene': 'GC17M059158', 'score': 0.77}, {'connected_gene': 'PRR11', 'score': 0.44}, {'connected_gene': 'SPDYE22P', 'score': 0.37}]
chr17	GH17I059165	59165520	59166507	1	[{'connected_gene': 'RAD51C', 'score': 14.43}, {'connected_gene': 'GC17M059158', 'score': 0.44}, {'connected_gene': 'PRR11', 'score': 0.39}, {'connected_gene': 'SPDYE22P', 'score': 0.37}]
chr17	GH17I059164	59164390	59164670	0.2	[{'connected_gene': 'RAD51C', 'score': 15.65}, {'connected_gene': 'GC17M059158', 'score': 0.77}, {'connected_gene': 'PRR11', 'score': 0.44}, {'connected_gene': 'SPDYE22P', 'score': 0.37}]
chr17	GH17I059167	59167401	59168200	0.58	[{'connected_gene': 'RAD51C', 'score': 15.88}, {'connected_gene': 'GC17M059158', 'score': 0.44}, {'connected_gene': 'SPDYE22P', 'score': 0.39}, {'connected_gene': 'PRR11', 'score': 0.39}]
chr17	GH17I059110	59110706	59113358	0.49	[{'connected_gene': 'TRIM37', 'score': 40.91}, {'connected_gene': 'MIR301A', 'score': 11.64}, {'connected_gene': 'MIR454', 'score': 11.55}, {'connected_gene': 'SKA2', 'score': 11.06}, {'connected_gene': 'PRR11', 'score': 11.06}, {'connected_gene': 'GC17M059110', 'score': 0.77}, {'connected_gene': 'ENSG00000224738', 'score': 0.44}]
chr17	GH17I059616	59616279	59623070	2.6	[{'connected_gene': 'CLTC', 'score': 550.77}, {'connected_gene': 'ENSG00000273702', 'score': 550.77}, {'connected_gene': 'TUBD1', 'score': 34.91}, {'connected_gene': 'RPS6KB1', 'score': 34.16}, {'connected_gene': 'HEATR6', 'score': 31.72}, {'connected_gene': 'SKA2', 'score': 27.31}, {'connected_gene': 'PPM1D', 'score': 24.62}, {'connected_gene': 'DHX40', 'score': 19.61}, {'connected_gene': 'RNFT1', 'score': 16.77}, {'connected_gene': 'NDUFB8P2', 'score': 14.13}, {'connected_gene': 'LOC100996660', 'score': 12.9}, {'connected_gene': 'APPBP2', 'score': 11.42}, {'connected_gene': 'PPM1E', 'score': 10.74}, {'connected_gene': 'TRIM37', 'score': 10.4}, {'connected_gene': 'SMG8', 'score': 10.18}, {'connected_gene': 'PRR11', 'score': 4.81}, {'connected_gene': 'YPEL2', 'score': 1.72}, {'connected_gene': 'VMP1', 'score': 1.7}, {'connected_gene': 'GC17P059616', 'score': 0.77}]
chr17	GH17I059633	59633843	59635787	1.12	[{'connected_gene': 'ENSG00000224738', 'score': 12.88}, {'connected_gene': 'RPS6KB1', 'score': 11.9}, {'connected_gene': 'DHX40', 'score': 5.33}, {'connected_gene': 'PRR11', 'score': 4.78}, {'connected_gene': 'CLTC', 'score': 0.37}, {'connected_gene': 'ENSG00000273702', 'score': 0.37}, {'connected_gene': 'GC17M059649', 'score': 0.26}]
chr17	GH17I059151	59151480	59161100	2.56	[{'connected_gene': 'GC17M059154', 'score': 550.77}, {'connected_gene': 'PRR11', 'score': 550.77}, {'connected_gene': 'SKA2', 'score': 550.77}, {'connected_gene': 'MKS1', 'score': 64.16}, {'connected_gene': 'NDUFB8P2', 'score': 49.3}, {'connected_gene': 'TUBD1', 'score': 46.31}, {'connected_gene': 'TRIM37', 'score': 28.38}, {'connected_gene': 'RPS6KB1', 'score': 24.51}, {'connected_gene': 'SMG8', 'score': 24.19}, {'connected_gene': 'RNFT1', 'score': 23.76}, {'connected_gene': 'HEATR6', 'score': 19.07}, {'connected_gene': 'RAD51C', 'score': 16.1}, {'connected_gene': 'RNU2-58P', 'score': 11.33}, {'connected_gene': 'DHX40', 'score': 10.01}, {'connected_gene': 'GC17M059158', 'score': 0.77}, {'connected_gene': 'GC17M059152', 'score': 0.77}]
chr17	GH17I059123	59123139	59123265	0.43	[{'connected_gene': 'GC17M059121', 'score': 550.77}, {'connected_gene': 'MIR301A', 'score': 12.19}, {'connected_gene': 'SKA2', 'score': 11.51}, {'connected_gene': 'PRR11', 'score': 11.51}, {'connected_gene': 'SMG8', 'score': 10.63}, {'connected_gene': 'GDPD1', 'score': 1.85}, {'connected_gene': 'RNU2-58P', 'score': 0.44}]
chr17	GH17I059121	59121836	59122450	0.31	[{'connected_gene': 'GC17M059121', 'score': 550.77}, {'connected_gene': 'MIR301A', 'score': 12.19}, {'connected_gene': 'SKA2', 'score': 11.51}, {'connected_gene': 'PRR11', 'score': 11.51}, {'connected_gene': 'SMG8', 'score': 10.63}, {'connected_gene': 'RNU2-58P', 'score': 0.44}]
chr17	GH17I059120	59120111	59120971	0.2	[{'connected_gene': 'GC17M059121', 'score': 550.77}, {'connected_gene': 'MIR301A', 'score': 12.17}, {'connected_gene': 'SKA2', 'score': 11.51}, {'connected_gene': 'PRR11', 'score': 11.51}, {'connected_gene': 'SMG8', 'score': 10.63}, {'connected_gene': 'GC17M059110', 'score': 0.44}]