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
ENST00000375120	[[20209005, 20209227], [20216877, 20217026], [20220860, 20220973], [20224032, 20224155], [20230759, 20230891], [20231383, 20231480], [20232924, 20233109], [20234062, 20239438]]	[[20209006, 20209227], [20216877, 20217026], [20220860, 20220973], [20224032, 20224155], [20230759, 20230891], [20231383, 20231480], [20232924, 20233109], [20234062, 20234239]]
ENST00000466697	[[20216950, 20217026], [20220860, 20220973], [20224032, 20224308]]	None
ENST00000481686	[[20233057, 20233109], [20233220, 20233437]]	None
NM_015207	[[20208887, 20209227], [20216877, 20217026], [20220860, 20220973], [20224032, 20224155], [20230759, 20230891], [20231383, 20231480], [20232924, 20233109], [20234062, 20239438]]	[[20209006, 20209227], [20216877, 20217026], [20220860, 20220973], [20224032, 20224155], [20230759, 20230891], [20231383, 20231480], [20232924, 20233109], [20234062, 20234239]]

Promoter

Chrom	Start	End	Description
chr1	20208870	20208938	CAGE_peak_1_at_OTUD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I019310	19310151	19316830	2.28	[{'connected_gene': 'AKR7A2', 'score': 560.41}, {'connected_gene': 'PQLC2', 'score': 559.28}, {'connected_gene': 'UBR4', 'score': 26.55}, {'connected_gene': 'OTUD3', 'score': 22.31}, {'connected_gene': 'AKR7L', 'score': 12.08}, {'connected_gene': 'EMC1', 'score': 11.1}, {'connected_gene': 'ENSG00000272084', 'score': 9.86}, {'connected_gene': 'GC01M019319', 'score': 0.44}, {'connected_gene': 'GC01M019320', 'score': 0.44}]
chr1	GH01I019432	19432136	19471546	2.26	[{'connected_gene': 'CAPZB', 'score': 574.27}, {'connected_gene': 'EMC1', 'score': 14.45}, {'connected_gene': 'NBL1', 'score': 13.26}, {'connected_gene': 'RNU4-28P', 'score': 11.33}, {'connected_gene': 'HTR6', 'score': 10.82}, {'connected_gene': 'AKR7A2', 'score': 10.29}, {'connected_gene': 'OTUD3', 'score': 10.1}, {'connected_gene': 'AKR7A3', 'score': 8.85}, {'connected_gene': 'PQLC2', 'score': 6.11}, {'connected_gene': 'UBR4', 'score': 2.55}, {'connected_gene': 'PLA2G2E', 'score': 2.36}, {'connected_gene': 'PIR41915', 'score': 0.39}, {'connected_gene': 'RN7SL277P', 'score': 0.31}]
chr1	GH01I020610	20610902	20615067	1.32	[{'connected_gene': 'PINK1', 'score': 37.46}, {'connected_gene': 'CDA', 'score': 34.21}, {'connected_gene': 'OTUD3', 'score': 13.3}, {'connected_gene': 'FAM43B', 'score': 11.41}, {'connected_gene': 'DDOST', 'score': 5.15}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1	GH01I020474	20474162	20488000	2.76	[{'connected_gene': 'CAMK2N1', 'score': 558.12}, {'connected_gene': 'ENSG00000284743', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 43.66}, {'connected_gene': 'DDOST', 'score': 30.09}, {'connected_gene': 'OTUD3', 'score': 20.66}, {'connected_gene': 'MUL1', 'score': 19.41}, {'connected_gene': 'FAM43B', 'score': 16.74}, {'connected_gene': 'NBPF2P', 'score': 9.72}, {'connected_gene': 'ENSG00000284641', 'score': 0.77}]
chr1	GH01I019918	19918128	19919336	0.95	[{'connected_gene': 'CAMK2N1', 'score': 10.07}, {'connected_gene': 'OTUD3', 'score': 6.28}, {'connected_gene': 'PLA2G2E', 'score': 0.77}, {'connected_gene': 'PIR55587', 'score': 0.44}]
chr1	GH01I019866	19866288	19867665	0.69	[{'connected_gene': 'RNF186', 'score': 11.09}, {'connected_gene': 'ENSG00000235434', 'score': 11.09}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'OTUD3', 'score': 5.99}, {'connected_gene': 'PIR53184', 'score': 0.39}, {'connected_gene': 'LOC105376823', 'score': 0.34}, {'connected_gene': 'GC01M019829', 'score': 0.28}]
chr1	GH01I019812	19812396	19817724	1.75	[{'connected_gene': 'RNF186', 'score': 550.77}, {'connected_gene': 'ENSG00000235434', 'score': 550.77}, {'connected_gene': 'OTUD3', 'score': 18.43}, {'connected_gene': 'EMC1', 'score': 10.88}, {'connected_gene': 'TMCO4', 'score': 7.93}]
chr1	GH01I019859	19859613	19862522	0.83	[{'connected_gene': 'HP1BP3', 'score': 18.1}, {'connected_gene': 'OTUD3', 'score': 12.06}, {'connected_gene': 'RNF186', 'score': 11.11}, {'connected_gene': 'ENSG00000235434', 'score': 11.11}, {'connected_gene': 'EMC1', 'score': 10.92}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'PIR53184', 'score': 0.37}, {'connected_gene': 'LOC105376823', 'score': 0.31}, {'connected_gene': 'GC01M019829', 'score': 0.29}]
chr1	GH01I020454	20454334	20454477	0.53	[{'connected_gene': 'HP1BP3', 'score': 14.03}, {'connected_gene': 'OTUD3', 'score': 11.48}, {'connected_gene': 'PLA2G2A', 'score': 6.94}, {'connected_gene': 'ENSG00000284641', 'score': 0.34}, {'connected_gene': 'LINC01141', 'score': 0.34}]
chr1	GH01I020180	20179613	20181101	0.74	[{'connected_gene': 'HP1BP3', 'score': 28.36}, {'connected_gene': 'EMC1', 'score': 11.75}, {'connected_gene': 'OTUD3', 'score': 11.28}, {'connected_gene': 'UBXN10', 'score': 0.77}, {'connected_gene': 'PLA2G2C', 'score': 0.77}]
chr1	GH01I020493	20493408	20498202	1.33	[{'connected_gene': 'OTUD3', 'score': 12.92}, {'connected_gene': 'NBPF3', 'score': 10.83}, {'connected_gene': 'NBPF2P', 'score': 10.81}, {'connected_gene': 'FAM43B', 'score': 8.1}, {'connected_gene': 'MUL1', 'score': 7.08}, {'connected_gene': 'PIR53014', 'score': 0.77}, {'connected_gene': 'GC01M020501', 'score': 0.77}, {'connected_gene': 'CAMK2N1', 'score': 0.44}]
chr1	GH01I019903	19903279	19904693	0.49	[{'connected_gene': 'OTUD3', 'score': 22.03}, {'connected_gene': 'MUL1', 'score': 9.57}, {'connected_gene': 'PIR55587', 'score': 0.44}, {'connected_gene': 'LOC105376823', 'score': 0.39}]
chr1	GH01I019825	19825328	19825537	0.74	[{'connected_gene': 'OTUD3', 'score': 11.51}, {'connected_gene': 'GC01M019829', 'score': 0.77}, {'connected_gene': 'RNF186', 'score': 0.39}]
chr1	GH01I019881	19881691	19884380	2.04	[{'connected_gene': 'OTUD3', 'score': 562.49}, {'connected_gene': 'HP1BP3', 'score': 25.93}, {'connected_gene': 'UBR4', 'score': 13.56}, {'connected_gene': 'EMC1', 'score': 10.92}, {'connected_gene': 'ENSG00000226664', 'score': 9.45}, {'connected_gene': 'LOC105376823', 'score': 0.44}]
chr1	GH01I019892	19892136	19893404	0.46	[{'connected_gene': 'OTUD3', 'score': 12.11}, {'connected_gene': 'PLA2G2E', 'score': 11.25}, {'connected_gene': 'CAMK2N1', 'score': 9.73}, {'connected_gene': 'LOC105376823', 'score': 0.77}, {'connected_gene': 'PIR55587', 'score': 0.37}]
chr1	GH01I019974	19974350	19976174	1.12	[{'connected_gene': 'OTUD3', 'score': 11.56}, {'connected_gene': 'PLA2G2E', 'score': 11.36}, {'connected_gene': 'EMC1', 'score': 9.99}, {'connected_gene': 'PLA2G2A', 'score': 7.21}, {'connected_gene': 'NBL1', 'score': 5.67}, {'connected_gene': 'RN7SL304P', 'score': 0.77}]
chr1	GH01I019926	19926728	19926877	0.96	[{'connected_gene': 'OTUD3', 'score': 7.03}, {'connected_gene': 'PLA2G2E', 'score': 0.77}, {'connected_gene': 'RN7SL304P', 'score': 0.26}]
chr1	GH01I019863	19863029	19864750	0.75	[{'connected_gene': 'OTUD3', 'score': 23.59}, {'connected_gene': 'EMC1', 'score': 11.35}, {'connected_gene': 'RNF186', 'score': 11.11}, {'connected_gene': 'ENSG00000235434', 'score': 11.11}, {'connected_gene': 'TMCO4', 'score': 10.56}, {'connected_gene': 'PIR53184', 'score': 0.39}, {'connected_gene': 'LOC105376823', 'score': 0.31}, {'connected_gene': 'GC01M019829', 'score': 0.29}]
chr1	GH01I020278	20278654	20280415	0.72	[{'connected_gene': 'OTUD3', 'score': 10.1}, {'connected_gene': 'LOC105376828', 'score': 0.44}, {'connected_gene': 'VWA5B1', 'score': 0.39}]
chr1	GH01I019871	19871863	19873206	0.66	[{'connected_gene': 'OTUD3', 'score': 21.6}, {'connected_gene': 'PIR53184', 'score': 0.44}, {'connected_gene': 'LOC105376823', 'score': 0.37}, {'connected_gene': 'GC01M019829', 'score': 0.26}]
chr1	GH01I019869	19869404	19870791	0.95	[{'connected_gene': 'OTUD3', 'score': 12.38}, {'connected_gene': 'PIR53184', 'score': 0.44}, {'connected_gene': 'LOC105376823', 'score': 0.37}, {'connected_gene': 'GC01M019829', 'score': 0.28}]
chr1	GH01I019844	19844236	19846447	0.56	[{'connected_gene': 'OTUD3', 'score': 9.75}, {'connected_gene': 'GC01M019829', 'score': 0.37}, {'connected_gene': 'PIR53184', 'score': 0.29}]
chr1	GH01I019837	19837988	19838236	0.33	[{'connected_gene': 'OTUD3', 'score': 11.41}, {'connected_gene': 'GC01M019829', 'score': 0.44}, {'connected_gene': 'PIR53184', 'score': 0.26}]
chr1	GH01I020179	20179465	20179589	0.57	[{'connected_gene': 'EMC1', 'score': 11.75}, {'connected_gene': 'OTUD3', 'score': 11.28}, {'connected_gene': 'HP1BP3', 'score': 10.41}, {'connected_gene': 'UBXN10', 'score': 1.94}, {'connected_gene': 'RNF186', 'score': 1.55}, {'connected_gene': 'PLA2G2A', 'score': 1.32}, {'connected_gene': 'PLA2G2C', 'score': 0.77}]
chr1	GH01I019877	19877908	19879243	1.17	[{'connected_gene': 'PIR53184', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 9.92}, {'connected_gene': 'OTUD3', 'score': 6.63}, {'connected_gene': 'LOC105376823', 'score': 0.39}]