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
ENST00000307971	[[43738092, 43738654], [43739014, 43739181], [43739275, 43739416], [43743639, 43743803]]	[[43738372, 43738654], [43739014, 43739181], [43739275, 43739416], [43743639, 43743724]]
ENST00000372789	[[43738092, 43738654], [43739040, 43739181], [43739275, 43739416], [43743639, 43743813]]	[[43738649, 43738654], [43739040, 43739181], [43739275, 43739416], [43743639, 43743724]]
NM_145652	[[43738092, 43738654], [43739040, 43739181], [43739275, 43739416], [43743639, 43743813]]	[[43738649, 43738654], [43739040, 43739181], [43739275, 43739416], [43743639, 43743724]]

Promoter

Chrom	Start	End	Description
chr20	43743762	43743770	CAGE_peak_3_at_WFDC5_5end
chr20	43743790	43743820	CAGE_peak_1_at_WFDC5_5end
chr20	43743845	43743858	CAGE_peak_2_at_WFDC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I045024	45024090	45027186	0.38	[{'connected_gene': 'PABPC1L', 'score': 10.44}, {'connected_gene': 'WFDC5', 'score': 10.09}, {'connected_gene': 'STK4', 'score': 8.8}, {'connected_gene': 'TOMM34', 'score': 5.78}, {'connected_gene': 'ENSG00000252021', 'score': 0.34}, {'connected_gene': 'PIR48188', 'score': 0.23}]
chr20	GH20I044884	44884575	44887661	2.07	[{'connected_gene': 'YWHAB', 'score': 572.55}, {'connected_gene': 'SYS1', 'score': 9.8}, {'connected_gene': 'PABPC1L', 'score': 6.28}, {'connected_gene': 'WFDC5', 'score': 5.43}, {'connected_gene': 'WFDC12', 'score': 4.35}]
chr20	GH20I044965	44965174	44972677	2.58	[{'connected_gene': 'STK4', 'score': 575.1}, {'connected_gene': 'PCIF1', 'score': 24.39}, {'connected_gene': 'SYS1', 'score': 14.48}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'PABPC1L', 'score': 10.77}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'WFDC5', 'score': 7.35}, {'connected_gene': 'TOMM34', 'score': 6.2}, {'connected_gene': 'SERINC3', 'score': 4.71}, {'connected_gene': 'YWHAB', 'score': 1.84}, {'connected_gene': 'ADA', 'score': 1.18}, {'connected_gene': 'STK4-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I045293	45293001	45294450	1.09	[{'connected_gene': 'SLPI', 'score': 14.63}, {'connected_gene': 'WFDC5', 'score': 9.8}, {'connected_gene': 'RNU6ATAC38P', 'score': 9.54}, {'connected_gene': 'WFDC12', 'score': 4.42}, {'connected_gene': 'RBPJL', 'score': 0.39}, {'connected_gene': 'MATN4', 'score': 0.39}]
chr20	GH20I045110	45110742	45112336	0.59	[{'connected_gene': 'SLPI', 'score': 10.29}, {'connected_gene': 'WFDC12', 'score': 7.67}, {'connected_gene': 'KCNS1', 'score': 5.25}, {'connected_gene': 'WFDC5', 'score': 0.77}]
chr20	GH20I045107	45107491	45108574	0.2	[{'connected_gene': 'SLPI', 'score': 10.53}, {'connected_gene': 'RNU6ATAC38P', 'score': 8.47}, {'connected_gene': 'WFDC12', 'score': 5.87}, {'connected_gene': 'KCNS1', 'score': 5.29}, {'connected_gene': 'WFDC5', 'score': 0.44}]
chr20	GH20I045078	45078046	45082256	0.62	[{'connected_gene': 'KCNS1', 'score': 12.12}, {'connected_gene': 'PABPC1L', 'score': 10.97}, {'connected_gene': 'WFDC5', 'score': 10.92}, {'connected_gene': 'STK4', 'score': 8.12}, {'connected_gene': 'PIR51876', 'score': 0.77}, {'connected_gene': 'GC20M045100', 'score': 0.37}]
chr20	GH20I045068	45068911	45072572	1.36	[{'connected_gene': 'KCNS1', 'score': 15.75}, {'connected_gene': 'ZNF335', 'score': 15.48}, {'connected_gene': 'PCIF1', 'score': 14.33}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'WFDC5', 'score': 10.98}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'STK4', 'score': 8.88}, {'connected_gene': 'PIR48188', 'score': 0.44}, {'connected_gene': 'ENSG00000252021', 'score': 0.2}]
chr20	GH20I045043	45043700	45044908	1.09	[{'connected_gene': 'KCNS1', 'score': 11.51}, {'connected_gene': 'WFDC5', 'score': 10.98}, {'connected_gene': 'STK4', 'score': 7.54}, {'connected_gene': 'WFDC12', 'score': 5.31}, {'connected_gene': 'PIR48188', 'score': 0.29}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I045049	45049565	45050499	0.89	[{'connected_gene': 'KCNS1', 'score': 11.47}, {'connected_gene': 'WFDC5', 'score': 10.29}, {'connected_gene': 'STK4', 'score': 8.09}, {'connected_gene': 'PIR48188', 'score': 0.31}, {'connected_gene': 'ENSG00000252021', 'score': 0.25}]
chr20	GH20I045059	45059045	45062535	1.1	[{'connected_gene': 'KCNS1', 'score': 15.57}, {'connected_gene': 'WFDC5', 'score': 10.96}, {'connected_gene': 'STK4', 'score': 7.68}, {'connected_gene': 'PIR48188', 'score': 0.37}, {'connected_gene': 'ENSG00000252021', 'score': 0.22}]
chr20	GH20I045052	45052513	45054002	1.07	[{'connected_gene': 'KCNS1', 'score': 17.46}, {'connected_gene': 'WFDC5', 'score': 10.58}, {'connected_gene': 'STK4', 'score': 8.14}, {'connected_gene': 'PIR48188', 'score': 0.34}, {'connected_gene': 'ENSG00000252021', 'score': 0.25}]
chr20	GH20I045040	45040779	45043050	1.15	[{'connected_gene': 'KCNS1', 'score': 17.67}, {'connected_gene': 'WFDC5', 'score': 10.98}, {'connected_gene': 'STK4', 'score': 8.04}, {'connected_gene': 'PIR48188', 'score': 0.29}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I045066	45066848	45068640	0.63	[{'connected_gene': 'KCNS1', 'score': 11.35}, {'connected_gene': 'WFDC5', 'score': 10.98}, {'connected_gene': 'STK4', 'score': 8.88}, {'connected_gene': 'PIR48188', 'score': 0.44}, {'connected_gene': 'ENSG00000252021', 'score': 0.21}]
chr20	GH20I045046	45046859	45048313	0.2	[{'connected_gene': 'KCNS1', 'score': 11.47}, {'connected_gene': 'WFDC5', 'score': 10.29}, {'connected_gene': 'PIR48188', 'score': 0.31}, {'connected_gene': 'ENSG00000252021', 'score': 0.26}, {'connected_gene': 'STK4', 'score': 0.18}]
chr20	GH20I045039	45039000	45040172	0.92	[{'connected_gene': 'KCNS1', 'score': 11.49}, {'connected_gene': 'WFDC5', 'score': 10.97}, {'connected_gene': 'PIR48188', 'score': 0.28}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}, {'connected_gene': 'STK4', 'score': 0.19}]
chr20	GH20I045153	45153899	45153996	0.41	[{'connected_gene': 'WFDC5', 'score': 11.28}, {'connected_gene': 'SYS1', 'score': 1.99}, {'connected_gene': 'LOC101929863', 'score': 0.39}, {'connected_gene': 'PI3', 'score': 0.34}]
chr20	GH20I045035	45035585	45037401	1.32	[{'connected_gene': 'WFDC5', 'score': 10.69}, {'connected_gene': 'PABPC1L', 'score': 10.27}, {'connected_gene': 'YWHAB', 'score': 4.3}, {'connected_gene': 'ENSG00000252021', 'score': 0.29}, {'connected_gene': 'PIR48188', 'score': 0.28}, {'connected_gene': 'STK4', 'score': 0.19}]
chr20	GH20I045027	45027977	45032036	0.43	[{'connected_gene': 'WFDC5', 'score': 10.68}, {'connected_gene': 'PABPC1L', 'score': 10.44}, {'connected_gene': 'STK4', 'score': 8.85}, {'connected_gene': 'TOMM34', 'score': 5.78}, {'connected_gene': 'YWHAB', 'score': 4.57}, {'connected_gene': 'ENSG00000252021', 'score': 0.31}, {'connected_gene': 'PIR48188', 'score': 0.25}]
chr20	GH20I045086	45086093	45089534	1.15	[{'connected_gene': 'WFDC5', 'score': 10.92}, {'connected_gene': 'PABPC1L', 'score': 10.37}, {'connected_gene': 'STK4', 'score': 8.07}, {'connected_gene': 'GC20M045100', 'score': 0.44}, {'connected_gene': 'PIR51876', 'score': 0.39}]
chr20	GH20I045083	45083194	45084557	0.38	[{'connected_gene': 'WFDC5', 'score': 10.57}, {'connected_gene': 'PABPC1L', 'score': 10.36}, {'connected_gene': 'PIR51876', 'score': 0.44}, {'connected_gene': 'GC20M045100', 'score': 0.39}]
chr20	GH20I045050	45050945	45052157	0.9	[{'connected_gene': 'WFDC5', 'score': 10.35}, {'connected_gene': 'PIR48188', 'score': 0.34}, {'connected_gene': 'ENSG00000252021', 'score': 0.25}, {'connected_gene': 'STK4', 'score': 0.17}]
chr20	GH20I045115	45115996	45116177	0.34	[{'connected_gene': 'WFDC5', 'score': 552.44}, {'connected_gene': 'SLPI', 'score': 9.0}, {'connected_gene': 'KCNS1', 'score': 0.39}]
chr20	GH20I045116	45115146	45115205	0.73	[{'connected_gene': 'WFDC5', 'score': 550.77}, {'connected_gene': 'KCNS1', 'score': 4.57}]
chr20	GH20I045104	45104440	45105854	0.79	[{'connected_gene': 'RNU6ATAC38P', 'score': 8.47}, {'connected_gene': 'SLPI', 'score': 7.83}, {'connected_gene': 'KCNS1', 'score': 5.62}, {'connected_gene': 'WFDC5', 'score': 0.39}]
chr20	GH20I045180	45180201	45180400	0.2	[{'connected_gene': 'LOC101929866', 'score': 550.77}, {'connected_gene': 'WFDC5', 'score': 10.81}, {'connected_gene': 'SEMG1', 'score': 0.31}]
chr20	GH20I045138	45138040	45139360	0.79	[{'connected_gene': 'LOC101929863', 'score': 550.77}, {'connected_gene': 'SLPI', 'score': 13.15}, {'connected_gene': 'WFDC5', 'score': 11.2}, {'connected_gene': 'WFDC12', 'score': 0.39}]
chr20	GH20I045005	45005801	45007620	0.31	[{'connected_gene': 'STK4-AS1', 'score': 11.94}, {'connected_gene': 'STK4', 'score': 11.94}, {'connected_gene': 'TOMM34', 'score': 11.93}, {'connected_gene': 'PABPC1L', 'score': 10.79}, {'connected_gene': 'WFDC5', 'score': 10.1}, {'connected_gene': 'ENSG00000252021', 'score': 0.77}, {'connected_gene': 'PIR48188', 'score': 0.2}]