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
ENST00000225371	[[56270097, 56270283], [56270398, 56270492], [56270731, 56270907], [56271074, 56271192], [56271323, 56271453], [56272324, 56272531], [56274299, 56274618], [56276400, 56276561], [56276899, 56277155], [56277585, 56277756], [56280441, 56280679], [56281582, 56281795], [56282096, 56282535]]	[[56270207, 56270283], [56270398, 56270492], [56270731, 56270907], [56271074, 56271192], [56271323, 56271453], [56272324, 56272531], [56274299, 56274618], [56276400, 56276561], [56276899, 56277155], [56277585, 56277756], [56280441, 56280679], [56281582, 56281784]]
NM_000502	[[56270084, 56270283], [56270398, 56270492], [56270731, 56270907], [56271074, 56271192], [56271323, 56271453], [56272324, 56272531], [56274299, 56274618], [56276400, 56276561], [56276899, 56277155], [56277585, 56277756], [56280441, 56280679], [56281582, 56281795], [56282096, 56282535]]	[[56270207, 56270283], [56270398, 56270492], [56270731, 56270907], [56271074, 56271192], [56271323, 56271453], [56272324, 56272531], [56274299, 56274618], [56276400, 56276561], [56276899, 56277155], [56277585, 56277756], [56280441, 56280679], [56281582, 56281784]]

Promoter

Chrom	Start	End	Description
chr17	56270084	56270090	CAGE_peak_1_at_EPX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I058232	58232152	58233904	1.29	[{'connected_gene': 'EPX', 'score': 5.36}, {'connected_gene': 'SUPT4H1', 'score': 1.36}, {'connected_gene': 'LPO', 'score': 0.39}, {'connected_gene': 'LOC105371841', 'score': 0.39}, {'connected_gene': 'MPO', 'score': 0.23}]
chr17	GH17I058172	58172560	58172709	0.71	[{'connected_gene': 'EPX', 'score': 11.77}, {'connected_gene': 'MKS1', 'score': 11.17}, {'connected_gene': 'OR4D2', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.39}]
chr17	GH17I058277	58277401	58280400	0.89	[{'connected_gene': 'EPX', 'score': 5.11}, {'connected_gene': 'MPO', 'score': 0.44}, {'connected_gene': 'LOC105371841', 'score': 0.22}]
chr17	GH17I057939	57939111	57944180	1.5	[{'connected_gene': 'EPX', 'score': 9.56}, {'connected_gene': 'CUEDC1', 'score': 0.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.31}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr7	GH07I100719	100719758	100719907	0.75	[{'connected_gene': 'EPO', 'score': 550.77}, {'connected_gene': 'POP7', 'score': 0.39}]
chr7	GH07I100720	100720723	100720782	0.61	[{'connected_gene': 'EPO', 'score': 550.77}, {'connected_gene': 'POP7', 'score': 0.39}]
chr17	GH17I058192	58192677	58192736	0.5	[{'connected_gene': 'EPX', 'score': 550.77}, {'connected_gene': 'GC17M057928', 'score': 0.39}]
chr7	GH07I100733	100733546	100733605	0.5	[{'connected_gene': 'ZAN', 'score': 550.77}, {'connected_gene': 'EPO', 'score': 0.39}]
chr7	GH07I100725	100725167	100727838	1.08	[{'connected_gene': 'MOSPD3', 'score': 6.0}, {'connected_gene': 'LOC102724094', 'score': 4.12}, {'connected_gene': 'ZAN', 'score': 0.44}, {'connected_gene': 'EPO', 'score': 0.44}]
chr17	GH17I057888	57888380	57896322	1.69	[{'connected_gene': 'SRSF1', 'score': 24.24}, {'connected_gene': 'CUEDC1', 'score': 18.88}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'SUPT4H1', 'score': 2.44}, {'connected_gene': 'VEZF1', 'score': 1.39}, {'connected_gene': 'ENSG00000264914', 'score': 0.37}, {'connected_gene': 'GC17P057856', 'score': 0.28}]
chr17	GH17I058249	58249335	58250310	1.43	[{'connected_gene': 'MKS1', 'score': 11.43}, {'connected_gene': 'EPX', 'score': 10.45}, {'connected_gene': 'LOC105371841', 'score': 0.31}, {'connected_gene': 'LPO', 'score': 0.29}, {'connected_gene': 'MPO', 'score': 0.29}]
chr17	GH17I057935	57934599	57938642	1.59	[{'connected_gene': 'MRPS23', 'score': 10.8}, {'connected_gene': 'EPX', 'score': 9.56}, {'connected_gene': 'MKS1', 'score': 4.89}, {'connected_gene': 'CUEDC1', 'score': 3.1}, {'connected_gene': 'ENSG00000264914', 'score': 0.34}, {'connected_gene': 'GC17M057928', 'score': 0.07}]
chr17	GH17I058374	58374782	58385131	1.42	[{'connected_gene': 'TRIM37', 'score': 28.87}, {'connected_gene': 'RAD51C', 'score': 25.88}, {'connected_gene': 'RNF43', 'score': 20.64}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'SUPT4H1', 'score': 11.9}, {'connected_gene': 'MKS1', 'score': 11.01}, {'connected_gene': 'HSF5', 'score': 10.98}, {'connected_gene': 'LPO', 'score': 10.39}, {'connected_gene': 'EPX', 'score': 10.24}, {'connected_gene': 'MSX2P1', 'score': 9.4}, {'connected_gene': 'OR4D1', 'score': 9.4}, {'connected_gene': 'MTMR4', 'score': 9.21}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.23}]
chr17	GH17I057897	57897797	57905999	2.19	[{'connected_gene': 'CUEDC1', 'score': 568.65}, {'connected_gene': 'SRSF1', 'score': 40.87}, {'connected_gene': 'ENSG00000262298', 'score': 26.13}, {'connected_gene': 'MKS1', 'score': 20.25}, {'connected_gene': 'EPX', 'score': 9.76}, {'connected_gene': 'VEZF1', 'score': 5.1}, {'connected_gene': 'ENSG00000263004', 'score': 4.98}, {'connected_gene': 'OR4D2', 'score': 3.18}, {'connected_gene': 'ENSG00000264914', 'score': 0.39}, {'connected_gene': 'GC17P057856', 'score': 0.25}]
chr17	GH17I058136	58136800	58136929	0.6	[{'connected_gene': 'OR4D2', 'score': 11.95}, {'connected_gene': 'EPX', 'score': 10.83}, {'connected_gene': 'SRSF1', 'score': 10.14}, {'connected_gene': 'LPO', 'score': 9.96}, {'connected_gene': 'OR4D1', 'score': 0.39}, {'connected_gene': 'GC17P058101', 'score': 0.28}, {'connected_gene': 'GC17M057928', 'score': 0.25}]
chr17	GH17I058060	58060717	58060896	0.49	[{'connected_gene': 'LOC105371840', 'score': 550.77}, {'connected_gene': 'OR4D1', 'score': 10.44}, {'connected_gene': 'MSX2P1', 'score': 10.43}, {'connected_gene': 'EPX', 'score': 10.1}, {'connected_gene': 'LOC101927666', 'score': 0.34}, {'connected_gene': 'GC17M057928', 'score': 0.13}]
chr7	GH07I100704	100704814	100707665	2.11	[{'connected_gene': 'POP7', 'score': 550.77}, {'connected_gene': 'ZSCAN21', 'score': 69.26}, {'connected_gene': 'SRRT', 'score': 58.03}, {'connected_gene': 'STAG3L5P', 'score': 54.83}, {'connected_gene': 'GIGYF1', 'score': 51.29}, {'connected_gene': 'ENSG00000242798', 'score': 47.73}, {'connected_gene': 'ZNF3', 'score': 46.25}, {'connected_gene': 'AP4M1', 'score': 43.62}, {'connected_gene': 'TRIM4', 'score': 33.64}, {'connected_gene': 'PILRB', 'score': 30.56}, {'connected_gene': 'PCOLCE-AS1', 'score': 29.24}, {'connected_gene': 'PPP1R35', 'score': 25.8}, {'connected_gene': 'MBLAC1', 'score': 23.1}, {'connected_gene': 'MEPCE', 'score': 20.28}, {'connected_gene': 'LRCH4', 'score': 20.22}, {'connected_gene': 'TAF6', 'score': 19.53}, {'connected_gene': 'CNPY4', 'score': 18.48}, {'connected_gene': 'COPS6', 'score': 11.7}, {'connected_gene': 'MUC3A', 'score': 5.16}, {'connected_gene': 'EPO', 'score': 0.39}]
chr17	GH17I058200	58200120	58200269	0.76	[{'connected_gene': 'ENSG00000278627', 'score': 0.77}, {'connected_gene': 'EPX', 'score': 0.44}]
chr17	GH17I058184	58184227	58184945	0.74	[{'connected_gene': 'GC17M057928', 'score': 550.77}, {'connected_gene': 'MSX2P1', 'score': 11.52}, {'connected_gene': 'OR4D1', 'score': 11.49}, {'connected_gene': 'MKS1', 'score': 10.98}, {'connected_gene': 'LPO', 'score': 10.58}, {'connected_gene': 'SUPT4H1', 'score': 4.88}, {'connected_gene': 'EPX', 'score': 0.44}]