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
ENST00000259392	[[115913221, 115913360], [115920006, 115920073], [115923788, 115923978], [115925028, 115926417]]	[[115913354, 115913360], [115920006, 115920073], [115923788, 115923978], [115925028, 115925197]]
ENST00000490809	[[115913255, 115913360], [115913930, 115914596]]	None
ENST00000374220	[[115913309, 115913360], [115920006, 115920073], [115920323, 115920376], [115923788, 115923978], [115925028, 115926417]]	[[115913354, 115913360], [115920006, 115920073], [115920323, 115920376], [115923788, 115923884]]
NM_001860	[[115913237, 115913360], [115920006, 115920073], [115923788, 115923978], [115925028, 115926422]]	[[115913354, 115913360], [115920006, 115920073], [115923788, 115923978], [115925028, 115925197]]

Promoter

Chrom	Start	End	Description
chr9	115913230	115913266	CAGE_peak_2_at_SLC31A2_5end
chr9	115913271	115913298	CAGE_peak_1_at_SLC31A2_5end
chr9	115913314	115913325	CAGE_peak_3_at_SLC31A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I113274	113274305	113276814	2.32	[{'connected_gene': 'PRPF4', 'score': 610.94}, {'connected_gene': 'CDC26', 'score': 587.44}, {'connected_gene': 'PIR61584', 'score': 550.77}, {'connected_gene': 'GC09P114623', 'score': 550.77}, {'connected_gene': 'WDR31', 'score': 13.71}, {'connected_gene': 'FKBP15', 'score': 11.24}, {'connected_gene': 'PTBP3', 'score': 9.99}, {'connected_gene': 'SLC31A2', 'score': 6.67}, {'connected_gene': 'RGS3', 'score': 2.62}]
chr9	GH09I113232	113232340	113233800	0.91	[{'connected_gene': 'PRPF4', 'score': 18.09}, {'connected_gene': 'SLC31A2', 'score': 8.13}, {'connected_gene': 'BSPRY', 'score': 6.06}, {'connected_gene': 'SLC46A2', 'score': 4.56}, {'connected_gene': 'SNX30', 'score': 2.24}, {'connected_gene': 'FKBP15', 'score': 1.95}, {'connected_gene': 'RGS3', 'score': 1.66}, {'connected_gene': 'SLC31A1', 'score': 0.39}, {'connected_gene': 'PIR39900', 'score': 0.31}]
chr9	GH09I112866	112866175	112870670	1.3	[{'connected_gene': 'SLC46A2', 'score': 22.85}, {'connected_gene': 'ENSG00000226609', 'score': 15.51}, {'connected_gene': 'SNX30', 'score': 9.8}, {'connected_gene': 'SLC31A2', 'score': 9.71}, {'connected_gene': 'INIP', 'score': 4.99}, {'connected_gene': 'PIR49803', 'score': 0.77}]
chr9	GH09I112860	112860431	112864800	1.29	[{'connected_gene': 'SLC46A2', 'score': 22.99}, {'connected_gene': 'SNX30', 'score': 18.61}, {'connected_gene': 'ENSG00000226609', 'score': 15.54}, {'connected_gene': 'SLC31A2', 'score': 13.72}, {'connected_gene': 'ENSG00000271631', 'score': 6.56}, {'connected_gene': 'FKBP15', 'score': 2.07}, {'connected_gene': 'PIR49803', 'score': 0.44}]
chr9	GH09I112865	112865001	112865200	0.63	[{'connected_gene': 'SLC46A2', 'score': 12.92}, {'connected_gene': 'ENSG00000226609', 'score': 9.8}, {'connected_gene': 'SNX30', 'score': 9.8}, {'connected_gene': 'SLC31A2', 'score': 9.71}, {'connected_gene': 'PIR49803', 'score': 0.44}]
chr9	GH09I112893	112893767	112895533	1.06	[{'connected_gene': 'SNX30', 'score': 9.52}, {'connected_gene': 'SLC46A2', 'score': 7.88}, {'connected_gene': 'SLC31A2', 'score': 5.6}, {'connected_gene': 'FKBP15', 'score': 2.74}, {'connected_gene': 'MUPP', 'score': 0.2}]
chr9	GH09I113488	113488048	113488965	0.51	[{'connected_gene': 'C9orf43', 'score': 42.96}, {'connected_gene': 'RGS3', 'score': 15.16}, {'connected_gene': 'POLE3', 'score': 10.53}, {'connected_gene': 'RNF183', 'score': 10.2}, {'connected_gene': 'ALAD', 'score': 10.08}, {'connected_gene': 'SLC31A2', 'score': 9.09}, {'connected_gene': 'GC09P114125', 'score': 0.23}]
chr9	GH09I113489	113489775	113490239	0.2	[{'connected_gene': 'C9orf43', 'score': 19.38}, {'connected_gene': 'RGS3', 'score': 15.15}, {'connected_gene': 'POLE3', 'score': 10.53}, {'connected_gene': 'RNF183', 'score': 10.2}, {'connected_gene': 'ALAD', 'score': 10.08}, {'connected_gene': 'SLC31A2', 'score': 9.09}, {'connected_gene': 'GC09P114125', 'score': 0.23}]
chr9	GH09I113483	113483697	113486038	1.02	[{'connected_gene': 'C9orf43', 'score': 53.43}, {'connected_gene': 'RGS3', 'score': 26.8}, {'connected_gene': 'ALAD', 'score': 10.78}, {'connected_gene': 'POLE3', 'score': 10.59}, {'connected_gene': 'RNF183', 'score': 10.2}, {'connected_gene': 'SLC31A2', 'score': 9.09}, {'connected_gene': 'GC09P114125', 'score': 0.22}]
chr9	GH09I113516	113516651	113527759	1.59	[{'connected_gene': 'C9orf43', 'score': 42.98}, {'connected_gene': 'RGS3', 'score': 26.36}, {'connected_gene': 'ALAD', 'score': 15.41}, {'connected_gene': 'RNF183', 'score': 10.67}, {'connected_gene': 'CDC26', 'score': 9.9}, {'connected_gene': 'PRPF4', 'score': 9.9}, {'connected_gene': 'SLC31A2', 'score': 1.36}, {'connected_gene': 'GC09P114125', 'score': 0.34}]
chr9	GH09I113227	113227686	113228888	0.88	[{'connected_gene': 'CDC26', 'score': 30.02}, {'connected_gene': 'PRPF4', 'score': 10.37}, {'connected_gene': 'SLC31A2', 'score': 9.98}, {'connected_gene': 'RNF183', 'score': 9.89}, {'connected_gene': 'SLC31A1', 'score': 0.44}, {'connected_gene': 'PIR39900', 'score': 0.29}]
chr9	GH09I113218	113218551	113223600	2.36	[{'connected_gene': 'FKBP15', 'score': 553.29}, {'connected_gene': 'SLC31A1', 'score': 550.77}, {'connected_gene': 'CDC26', 'score': 20.95}, {'connected_gene': 'PRPF4', 'score': 19.79}, {'connected_gene': 'WDR31', 'score': 12.27}, {'connected_gene': 'SLC31A2', 'score': 5.83}, {'connected_gene': 'SNX30', 'score': 4.64}, {'connected_gene': 'SLC46A2', 'score': 3.01}, {'connected_gene': 'RGS3', 'score': 1.57}, {'connected_gene': 'PIR31842', 'score': 0.22}]
chr9	GH09I113224	113224121	113224270	0.56	[{'connected_gene': 'SLC31A2', 'score': 17.26}, {'connected_gene': 'PRPF4', 'score': 10.36}, {'connected_gene': 'CDC26', 'score': 10.36}, {'connected_gene': 'RNF183', 'score': 9.62}, {'connected_gene': 'SLC31A1', 'score': 0.77}, {'connected_gene': 'PIR39900', 'score': 0.28}]
chr9	GH09I113150	113150361	113156607	2.49	[{'connected_gene': 'SLC31A2', 'score': 565.56}, {'connected_gene': 'PIR43385', 'score': 550.77}, {'connected_gene': 'PRPF4', 'score': 20.19}, {'connected_gene': 'ZNF618', 'score': 13.24}, {'connected_gene': 'COL27A1', 'score': 10.62}, {'connected_gene': 'FKBP15', 'score': 7.34}, {'connected_gene': 'BSPRY', 'score': 7.28}, {'connected_gene': 'LOC105376223', 'score': 5.81}, {'connected_gene': 'WDR31', 'score': 5.72}, {'connected_gene': 'SNX30', 'score': 5.48}, {'connected_gene': 'RGS3', 'score': 2.45}, {'connected_gene': 'SLC46A2', 'score': 1.6}, {'connected_gene': 'GC09M113167', 'score': 0.44}]
chr9	GH09I113129	113129983	113130227	0.29	[{'connected_gene': 'SLC31A2', 'score': 15.61}, {'connected_gene': 'RGS3', 'score': 3.01}, {'connected_gene': 'SNX30', 'score': 2.63}, {'connected_gene': 'PIR44474', 'score': 0.39}]
chr9	GH09I113125	113125486	113125827	0.39	[{'connected_gene': 'SLC31A2', 'score': 20.43}, {'connected_gene': 'SLC46A2', 'score': 9.61}, {'connected_gene': 'FAM225B', 'score': 7.19}, {'connected_gene': 'SNX30', 'score': 1.71}, {'connected_gene': 'RGS3', 'score': 1.44}, {'connected_gene': 'PIR44474', 'score': 0.44}, {'connected_gene': 'PIRC47', 'score': 0.31}]
chr9	GH09I113149	113149021	113150000	0.86	[{'connected_gene': 'SLC31A2', 'score': 550.77}, {'connected_gene': 'FKBP15', 'score': 5.55}, {'connected_gene': 'PIR44474', 'score': 0.31}]
chr9	GH09I113131	113131644	113132006	1.02	[{'connected_gene': 'SLC31A2', 'score': 12.66}, {'connected_gene': 'SLC31A1', 'score': 9.38}, {'connected_gene': 'FKBP15', 'score': 9.38}, {'connected_gene': 'CDC26', 'score': 9.24}, {'connected_gene': 'PRPF4', 'score': 9.24}, {'connected_gene': 'FAM225B', 'score': 8.78}, {'connected_gene': 'HDHD3', 'score': 5.67}, {'connected_gene': 'RGS3', 'score': 2.26}, {'connected_gene': 'SNX30', 'score': 2.18}, {'connected_gene': 'PIR44474', 'score': 0.39}]
chr9	GH09I113142	113142179	113142528	0.2	[{'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR44474', 'score': 0.34}]
chr9	GH09I113144	113144665	113145772	0.31	[{'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR44474', 'score': 0.31}]
chr9	GH09I113143	113143761	113143850	0.66	[{'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR44474', 'score': 0.34}]
chr9	GH09I113141	113141578	113141980	0.2	[{'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR44474', 'score': 0.34}]
chr9	GH09I113186	113186649	113189800	0.8	[{'connected_gene': 'SLC31A1', 'score': 17.63}, {'connected_gene': 'PRPF4', 'score': 14.56}, {'connected_gene': 'SLC31A2', 'score': 11.19}, {'connected_gene': 'FKBP15', 'score': 11.15}, {'connected_gene': 'RNF183', 'score': 10.46}, {'connected_gene': 'BSPRY', 'score': 8.77}, {'connected_gene': 'HDHD3', 'score': 6.06}, {'connected_gene': 'PIR31842', 'score': 0.34}]
chr9	GH09I113137	113137414	113138381	0.85	[{'connected_gene': 'SLC31A1', 'score': 10.58}, {'connected_gene': 'FKBP15', 'score': 10.58}, {'connected_gene': 'PRPF4', 'score': 9.82}, {'connected_gene': 'CDC26', 'score': 9.82}, {'connected_gene': 'HDHD3', 'score': 4.46}, {'connected_gene': 'SLC31A2', 'score': 0.39}, {'connected_gene': 'PIR44474', 'score': 0.37}]
chr9	GH09I113183	113183989	113185555	0.38	[{'connected_gene': 'SLC31A1', 'score': 17.64}, {'connected_gene': 'SLC31A2', 'score': 11.21}, {'connected_gene': 'FKBP15', 'score': 11.13}, {'connected_gene': 'PIR31842', 'score': 0.37}]
chr9	GH09I113138	113138668	113140399	1.26	[{'connected_gene': 'FAM225B', 'score': 5.63}, {'connected_gene': 'ALAD', 'score': 2.35}, {'connected_gene': 'ZNF883', 'score': 2.13}, {'connected_gene': 'SLC31A2', 'score': 0.39}, {'connected_gene': 'PIR44474', 'score': 0.37}]
chr9	GH09I113160	113160721	113160830	0.63	[{'connected_gene': 'GC09M113167', 'score': 550.77}, {'connected_gene': 'RNF183', 'score': 9.66}, {'connected_gene': 'SLC31A1', 'score': 7.01}, {'connected_gene': 'SLC31A2', 'score': 0.44}, {'connected_gene': 'PIR43385', 'score': 0.44}]
chr9	GH09I113164	113164120	113164707	0.31	[{'connected_gene': 'PIR31842', 'score': 550.77}, {'connected_gene': 'GC09M113164', 'score': 550.77}, {'connected_gene': 'PIR58423', 'score': 550.77}, {'connected_gene': 'SLC31A1', 'score': 7.11}, {'connected_gene': 'SLC31A2', 'score': 0.39}, {'connected_gene': 'FKBP15', 'score': 0.22}]