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
ENST00000566786	[[56899118, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]	[[56899147, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
ENST00000438926	[[56899118, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56949762]]	[[56899147, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
ENST00000563236	[[56899122, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56948434]]	[[56899147, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
ENST00000262502	[[56899122, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56948437]]	[[56899147, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
ENST00000569002	[[56936133, 56936420], [56938306, 56938764]]	None
ENST00000563352	[[56940937, 56941009], [56947175, 56947890]]	None
NM_001126107	[[56899118, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56949762]]	[[56899147, 56899429], [56900984, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
NM_001126108	[[56899118, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56949762]]	[[56899147, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926045], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]
NM_000339	[[56899118, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56949762]]	[[56899147, 56899429], [56900981, 56901128], [56902208, 56902284], [56903640, 56903736], [56904007, 56904147], [56904537, 56904648], [56906262, 56906374], [56906567, 56906698], [56911988, 56912073], [56912984, 56913139], [56913453, 56913561], [56914041, 56914165], [56916307, 56916409], [56917960, 56918116], [56919176, 56919276], [56920275, 56920387], [56920864, 56921005], [56921836, 56921943], [56924185, 56924268], [56925994, 56926072], [56926864, 56926966], [56928442, 56928554], [56933441, 56933528], [56936284, 56936420], [56938306, 56938374], [56947175, 56947317]]

Promoter

Chrom	Start	End	Description
chr16	56898878	56898882	CAGE_peak_2_at_SLC12A3_5end
chr16	56899114	56899127	CAGE_peak_1_at_SLC12A3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I056930	56930491	56940546	2.32	[{'connected_gene': 'HERPUD1', 'score': 559.75}, {'connected_gene': 'RSPRY1', 'score': 58.79}, {'connected_gene': 'NUDT21', 'score': 40.3}, {'connected_gene': 'NUP93', 'score': 36.46}, {'connected_gene': 'POLR2C', 'score': 21.24}, {'connected_gene': 'CETP', 'score': 11.83}, {'connected_gene': 'SLC12A3', 'score': 11.45}, {'connected_gene': 'LOC105371286', 'score': 11.14}, {'connected_gene': 'ENSG00000261270', 'score': 11.1}, {'connected_gene': 'NLRC5', 'score': 10.96}, {'connected_gene': 'ENSG00000272372', 'score': 10.75}, {'connected_gene': 'ARL2BP', 'score': 10.1}, {'connected_gene': 'FAM192A', 'score': 9.51}]
chr16	GH16I056871	56871200	56871601	0.96	[{'connected_gene': 'HERPUD1', 'score': 11.68}, {'connected_gene': 'SLC12A3', 'score': 0.44}, {'connected_gene': 'MIR6863', 'score': 0.29}]
chr16	GH16I056874	56874298	56875737	0.56	[{'connected_gene': 'HERPUD1', 'score': 11.69}, {'connected_gene': 'MT1X', 'score': 10.14}, {'connected_gene': 'MT1G', 'score': 9.8}, {'connected_gene': 'MT1H', 'score': 9.8}, {'connected_gene': 'MT1F', 'score': 9.46}, {'connected_gene': 'SLC12A3', 'score': 0.44}, {'connected_gene': 'MIR6863', 'score': 0.31}]
chr16	GH16I056869	56869600	56870285	1.04	[{'connected_gene': 'HERPUD1', 'score': 11.68}, {'connected_gene': 'MT1G', 'score': 9.8}, {'connected_gene': 'MT1H', 'score': 9.8}, {'connected_gene': 'SLC12A3', 'score': 0.77}, {'connected_gene': 'MIR6863', 'score': 0.29}]
chr16	GH16I056914	56914512	56920080	1.67	[{'connected_gene': 'HERPUD1', 'score': 11.72}, {'connected_gene': 'MIR138-2', 'score': 11.44}, {'connected_gene': 'ENSG00000261270', 'score': 9.41}, {'connected_gene': 'MT1X', 'score': 4.66}, {'connected_gene': 'NLRC5', 'score': 1.74}, {'connected_gene': 'RPS24P17', 'score': 0.39}, {'connected_gene': 'SLC12A3', 'score': 0.23}]
chr16	GH16I056899	56899009	56899158	0.69	[{'connected_gene': 'HERPUD1', 'score': 12.06}, {'connected_gene': 'MIR138-2', 'score': 10.82}, {'connected_gene': 'MT1H', 'score': 9.72}, {'connected_gene': 'MT1G', 'score': 9.72}, {'connected_gene': 'MIR6863', 'score': 0.44}, {'connected_gene': 'SLC12A3', 'score': 0.29}]
chr16	GH16I056908	56908642	56914098	1.54	[{'connected_gene': 'HERPUD1', 'score': 23.57}, {'connected_gene': 'MIR138-2', 'score': 10.47}, {'connected_gene': 'MT1G', 'score': 10.1}, {'connected_gene': 'MT1H', 'score': 10.1}, {'connected_gene': 'ENSG00000261270', 'score': 6.09}, {'connected_gene': 'NLRC5', 'score': 1.75}, {'connected_gene': 'RPS24P17', 'score': 0.77}, {'connected_gene': 'SLC12A3', 'score': 0.25}]
chr16	GH16I056859	56859594	56863797	1.13	[{'connected_gene': 'NUP93', 'score': 15.36}, {'connected_gene': 'ADGRG5', 'score': 9.85}, {'connected_gene': 'SLC12A3', 'score': 6.18}, {'connected_gene': 'MIR138-2', 'score': 0.77}, {'connected_gene': 'GC16P056865', 'score': 0.77}]
chr16	GH16I056805	56805836	56808030	0.68	[{'connected_gene': 'SLC12A3', 'score': 16.11}, {'connected_gene': 'MT1G', 'score': 11.54}, {'connected_gene': 'MT1H', 'score': 11.54}, {'connected_gene': 'MIR138-2', 'score': 11.36}, {'connected_gene': 'NUP93', 'score': 10.81}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.01}, {'connected_gene': 'MT1X', 'score': 9.98}, {'connected_gene': 'MT1F', 'score': 9.68}, {'connected_gene': 'GC16P056858', 'score': 0.23}]
chr16	GH16I056865	56865158	56865217	0.68	[{'connected_gene': 'SLC12A3', 'score': 550.77}, {'connected_gene': 'GC16P056865', 'score': 550.77}]
chr16	GH16I056867	56867329	56867800	0.82	[{'connected_gene': 'MT1CP', 'score': 5.14}, {'connected_gene': 'SLC12A3', 'score': 0.77}, {'connected_gene': 'MIR6863', 'score': 0.28}]
chr16	GH16I056800	56800344	56800953	0.69	[{'connected_gene': 'MIR138-2', 'score': 11.42}, {'connected_gene': 'SLC12A3', 'score': 11.0}, {'connected_gene': 'NUP93', 'score': 10.82}, {'connected_gene': 'MT1G', 'score': 10.64}, {'connected_gene': 'MT1H', 'score': 10.64}, {'connected_gene': 'MT1X', 'score': 10.26}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.0}, {'connected_gene': 'BBS2', 'score': 9.98}, {'connected_gene': 'HERPUD1', 'score': 9.88}, {'connected_gene': 'MT1F', 'score': 9.34}, {'connected_gene': 'GC16P056858', 'score': 0.22}]
chr16	GH16I056888	56888929	56889078	0.63	[{'connected_gene': 'MIR6863', 'score': 0.37}, {'connected_gene': 'SLC12A3', 'score': 0.34}]