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
ENST00000378572	[[13628926, 13629152], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656086], [13658397, 13658553], [13672259, 13672868]]	[[13629086, 13629152], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656086], [13658397, 13658553], [13672259, 13672340]]
ENST00000417658	[[13628938, 13629152], [13633767, 13633888], [13639457, 13639535], [13639644, 13639671], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656060]]	[[13633867, 13633888], [13639457, 13639535], [13639644, 13639671], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656060]]
ENST00000320054	[[13628967, 13629152], [13633767, 13633888], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653652]]	[[13633867, 13633888], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653652]]
NM_003675	[[13628938, 13629152], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656086], [13658397, 13658553], [13672259, 13672868]]	[[13629086, 13629152], [13639457, 13639535], [13642243, 13642348], [13647630, 13647744], [13652038, 13652185], [13653614, 13653683], [13655740, 13655881], [13656014, 13656086], [13658397, 13658553], [13672259, 13672340]]

Promoter

Chrom	Start	End	Description
chr10	13628921	13628928	CAGE_peak_2_at_PRPF18_5end
chr10	13628933	13629012	CAGE_peak_1_at_PRPF18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I013586	13586321	13588175	2.06	[{'connected_gene': 'PRPF18', 'score': 575.82}, {'connected_gene': 'BTBD7P1', 'score': 11.43}, {'connected_gene': 'GC10M013591', 'score': 0.44}, {'connected_gene': 'GC10M013518', 'score': 0.28}]
chr10	GH10I013536	13536821	13537010	0.76	[{'connected_gene': 'PRPF18', 'score': 11.42}, {'connected_gene': 'ENSG00000239665', 'score': 11.34}, {'connected_gene': 'BEND7', 'score': 7.03}, {'connected_gene': 'LOC105376422', 'score': 0.39}, {'connected_gene': 'GC10M013518', 'score': 0.17}]
chr10	GH10I013786	13786290	13790737	1.29	[{'connected_gene': 'PRPF18', 'score': 3.32}, {'connected_gene': 'ENSG00000234091', 'score': 0.22}, {'connected_gene': 'NUTF2P5', 'score': 0.18}, {'connected_gene': 'GC10M013770', 'score': 0.12}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10	GH10I013058	13058173	13058232	0.5	[{'connected_gene': 'CCDC3', 'score': 560.78}, {'connected_gene': 'RPL5P25', 'score': 550.77}, {'connected_gene': 'OPTN', 'score': 10.78}, {'connected_gene': 'PRPF18', 'score': 5.34}, {'connected_gene': 'RNA5SP300', 'score': 0.12}]
chr10	GH10I013160	13160603	13162668	2.04	[{'connected_gene': 'RPL36AP36', 'score': 550.77}, {'connected_gene': 'MCM10', 'score': 550.77}, {'connected_gene': 'GC10M013159', 'score': 550.77}, {'connected_gene': 'BTBD7P1', 'score': 13.97}, {'connected_gene': 'ENSG00000228302', 'score': 11.9}, {'connected_gene': 'CCDC3', 'score': 9.91}, {'connected_gene': 'OPTN', 'score': 9.91}, {'connected_gene': 'PRPF18', 'score': 9.74}, {'connected_gene': 'GC10P013202', 'score': 0.26}]
chr10	GH10I014184	14184413	14186761	1.23	[{'connected_gene': 'DCLRE1C', 'score': 41.31}, {'connected_gene': 'PRPF18', 'score': 35.8}, {'connected_gene': 'ENSG00000239665', 'score': 32.31}, {'connected_gene': 'ENSG00000273474', 'score': 31.22}, {'connected_gene': 'HSPA14', 'score': 23.28}, {'connected_gene': 'SEPHS1', 'score': 22.77}, {'connected_gene': 'RPP38', 'score': 20.46}, {'connected_gene': 'GC10P014189', 'score': 0.77}, {'connected_gene': 'LOC101928453', 'score': 0.14}, {'connected_gene': 'FRMD4A', 'score': 0.06}]
chr10	GH10I013345	13345521	13352810	2.74	[{'connected_gene': 'SEPHS1', 'score': 556.79}, {'connected_gene': 'PHYH', 'score': 25.28}, {'connected_gene': 'BTBD7P1', 'score': 22.9}, {'connected_gene': 'PRPF18', 'score': 19.52}, {'connected_gene': 'GC10P013355', 'score': 0.77}, {'connected_gene': 'PIR45625', 'score': 0.77}]
chr10	GH10I013537	13537692	13538448	0.65	[{'connected_gene': 'BEND7', 'score': 14.61}, {'connected_gene': 'ENSG00000273474', 'score': 11.27}, {'connected_gene': 'SEPHS1', 'score': 10.97}, {'connected_gene': 'PRPF18', 'score': 10.37}, {'connected_gene': 'LOC105376422', 'score': 0.39}, {'connected_gene': 'GC10M013518', 'score': 0.17}]
chr10	GH10I013550	13550932	13551014	0.33	[{'connected_gene': 'BEND7', 'score': 22.78}, {'connected_gene': 'LOC105376422', 'score': 0.77}, {'connected_gene': 'PRPF18', 'score': 0.28}, {'connected_gene': 'GC10M013518', 'score': 0.19}]
chr10	GH10I013557	13557081	13557230	0.78	[{'connected_gene': 'LOC105376421', 'score': 12.17}, {'connected_gene': 'BEND7', 'score': 12.17}, {'connected_gene': 'PRPF18', 'score': 12.09}, {'connected_gene': 'ENSG00000239665', 'score': 11.97}, {'connected_gene': 'LOC105376422', 'score': 0.44}, {'connected_gene': 'GC10M013518', 'score': 0.2}]
chr10	GH10I013647	13647438	13650099	0.2	[{'connected_gene': 'RNA5SP301', 'score': 10.86}, {'connected_gene': 'ENSG00000234091', 'score': 10.85}, {'connected_gene': 'ENSG00000239665', 'score': 9.91}, {'connected_gene': 'PRPF18', 'score': 5.5}, {'connected_gene': 'GC10M013636', 'score': 0.44}, {'connected_gene': 'LOC101928524', 'score': 0.37}, {'connected_gene': 'ENSG00000273474', 'score': 0.31}, {'connected_gene': 'ENSG00000282246', 'score': 0.28}, {'connected_gene': 'GC10P013601', 'score': 0.25}, {'connected_gene': 'GC10P013600', 'score': 0.25}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10	GH10I013270	13270469	13273140	1.1	[{'connected_gene': 'ENSG00000273474', 'score': 13.61}, {'connected_gene': 'PRPF18', 'score': 10.77}, {'connected_gene': 'PHYH', 'score': 8.48}, {'connected_gene': 'GC10P013279', 'score': 0.44}, {'connected_gene': 'UCMA', 'score': 0.28}]
chr10	GH10I013756	13756602	13760122	1.56	[{'connected_gene': 'ENSG00000234091', 'score': 12.22}, {'connected_gene': 'PRPF18', 'score': 12.21}, {'connected_gene': 'RNA5SP301', 'score': 12.2}, {'connected_gene': 'ENSG00000225112', 'score': 11.43}, {'connected_gene': 'ENSG00000273474', 'score': 9.84}, {'connected_gene': 'NUTF2P5', 'score': 0.14}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10	GH10I013607	13607767	13609809	0.2	[{'connected_gene': 'ENSG00000282246', 'score': 550.77}, {'connected_gene': 'ENSG00000239665', 'score': 26.55}, {'connected_gene': 'PRPF18', 'score': 11.38}, {'connected_gene': 'RNA5SP301', 'score': 10.04}, {'connected_gene': 'ENSG00000234091', 'score': 10.04}, {'connected_gene': 'ENSG00000225112', 'score': 9.93}, {'connected_gene': 'GC10P013601', 'score': 0.44}, {'connected_gene': 'GC10P013600', 'score': 0.44}, {'connected_gene': 'GC10M013518', 'score': 0.39}]
chr10	GH10I013614	13614446	13616792	0.95	[{'connected_gene': 'ENSG00000239665', 'score': 15.85}, {'connected_gene': 'GC10M013518', 'score': 0.44}, {'connected_gene': 'ENSG00000282246', 'score': 0.44}, {'connected_gene': 'GC10P013601', 'score': 0.39}, {'connected_gene': 'GC10P013600', 'score': 0.39}, {'connected_gene': 'PRPF18', 'score': 0.31}]
chr10	GH10I013613	13613661	13613790	0.49	[{'connected_gene': 'ENSG00000282246', 'score': 0.77}, {'connected_gene': 'GC10M013518', 'score': 0.44}, {'connected_gene': 'GC10P013601', 'score': 0.39}, {'connected_gene': 'GC10P013600', 'score': 0.39}, {'connected_gene': 'PRPF18', 'score': 0.31}]
chr10	GH10I013741	13741103	13744199	1.32	[{'connected_gene': 'ENSG00000225112', 'score': 11.66}, {'connected_gene': 'LOC105376425', 'score': 9.44}, {'connected_gene': 'PRPF18', 'score': 5.38}, {'connected_gene': 'ENSG00000234091', 'score': 0.39}, {'connected_gene': 'NUTF2P5', 'score': 0.13}, {'connected_gene': 'FRMD4A', 'score': 0.03}]
chr10	GH10I014006	14006859	14011429	1.71	[{'connected_gene': 'ENSG00000272853', 'score': 11.36}, {'connected_gene': 'LOC101928453', 'score': 10.43}, {'connected_gene': 'ENSG00000239665', 'score': 10.33}, {'connected_gene': 'ENSG00000228330', 'score': 9.82}, {'connected_gene': 'LOC105376425', 'score': 4.91}, {'connected_gene': 'PRPF18', 'score': 1.75}, {'connected_gene': 'PIR39920', 'score': 0.22}, {'connected_gene': 'FRMD4A', 'score': 0.05}]
chr10	GH10I013651	13651118	13654882	0.2	[{'connected_gene': 'ENSG00000239665', 'score': 14.26}, {'connected_gene': 'RNA5SP301', 'score': 10.87}, {'connected_gene': 'ENSG00000234091', 'score': 10.86}, {'connected_gene': 'PRPF18', 'score': 6.06}, {'connected_gene': 'PHYH', 'score': 5.83}, {'connected_gene': 'GC10M013636', 'score': 0.39}, {'connected_gene': 'ENSG00000273474', 'score': 0.34}, {'connected_gene': 'LOC101928524', 'score': 0.34}, {'connected_gene': 'ENSG00000282246', 'score': 0.26}, {'connected_gene': 'GC10P013601', 'score': 0.23}, {'connected_gene': 'GC10P013600', 'score': 0.23}, {'connected_gene': 'FRMD4A', 'score': 0.03}]