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
ENST00000296484	[[52109268, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188428]]	[[52109902, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188388]]
ENST00000394970	[[52109301, 52110001], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188706]]	[[52109902, 52110001], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188388]]
ENST00000474012	[[52109469, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185187], [52188370, 52188420]]	[[52109902, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52183992]]
NM_001161581	[[52109248, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185187], [52188370, 52188706]]	[[52109902, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52183992]]
NM_015426	[[52109248, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188706]]	[[52109902, 52110001], [52130584, 52130728], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188388]]
NM_001161580	[[52109248, 52110001], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188706]]	[[52109902, 52110001], [52156394, 52156493], [52159128, 52159197], [52172184, 52172318], [52179861, 52179977], [52181003, 52181111], [52183225, 52183405], [52183831, 52184003], [52185031, 52185116], [52188370, 52188388]]

Promoter

Chrom	Start	End	Description
chr3	52188397	52188450	CAGE_peak_1_at_POC1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I052136	52136196	52137141	0.58	[{'connected_gene': 'RPL29', 'score': 6.2}, {'connected_gene': 'POC1A', 'score': 0.37}, {'connected_gene': 'LINC00696', 'score': 0.19}]
chr3	GH03I052168	52167524	52167694	0.31	[{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3	GH03I052167	52167245	52167434	0.43	[{'connected_gene': 'TLR9', 'score': 10.71}, {'connected_gene': 'ENSG00000173366', 'score': 10.7}, {'connected_gene': 'LOC101929054', 'score': 10.68}, {'connected_gene': 'TWF2', 'score': 10.68}, {'connected_gene': 'WDR82', 'score': 10.54}, {'connected_gene': 'DUSP7', 'score': 10.22}, {'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'ALDOAP1', 'score': 0.31}]
chr3	GH03I052171	52171318	52172139	0.97	[{'connected_gene': 'TLR9', 'score': 10.46}, {'connected_gene': 'ENSG00000173366', 'score': 10.45}, {'connected_gene': 'LOC101929054', 'score': 10.43}, {'connected_gene': 'TWF2', 'score': 10.43}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.26}, {'connected_gene': 'MIR135A1', 'score': 10.25}, {'connected_gene': 'PCBP4', 'score': 10.15}, {'connected_gene': 'WDR82', 'score': 9.66}, {'connected_gene': 'GLYCTK', 'score': 9.66}, {'connected_gene': 'GPR62', 'score': 9.47}, {'connected_gene': 'POC1A', 'score': 0.37}, {'connected_gene': 'ALDOAP1', 'score': 0.34}]
chr3	GH03I052181	52181800	52182000	0.72	[{'connected_gene': 'ALDOAP1', 'score': 0.39}, {'connected_gene': 'POC1A', 'score': 0.31}]
chr3	GH03I052074	52074516	52074665	0.41	[{'connected_gene': 'IQCF2', 'score': 31.62}, {'connected_gene': 'PHF7', 'score': 31.6}, {'connected_gene': 'IQCF5', 'score': 31.19}, {'connected_gene': 'IQCF1', 'score': 29.68}, {'connected_gene': 'IQCF6', 'score': 28.73}, {'connected_gene': 'LINC00696', 'score': 0.44}, {'connected_gene': 'POC1A', 'score': 0.18}]
chr3	GH03I052153	52153156	52155774	2.06	[{'connected_gene': 'POC1A', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 14.13}, {'connected_gene': 'RRP9', 'score': 11.16}, {'connected_gene': 'DUSP7', 'score': 10.86}, {'connected_gene': 'ABHD14A-ACY1', 'score': 10.5}, {'connected_gene': 'ABHD14B', 'score': 10.5}, {'connected_gene': 'PCBP4', 'score': 10.49}, {'connected_gene': 'ACY1', 'score': 10.07}, {'connected_gene': 'WDR82', 'score': 9.96}, {'connected_gene': 'GPR62', 'score': 9.76}, {'connected_gene': 'LINC00696', 'score': 0.17}]
chr3	GH03I052182	52182106	52182509	0.98	[{'connected_gene': 'POC1A', 'score': 12.73}, {'connected_gene': 'ALAS1', 'score': 7.11}, {'connected_gene': 'ALDOAP1', 'score': 0.39}]
chr3	GH03I052187	52187709	52191347	1.27	[{'connected_gene': 'POC1A', 'score': 11.72}, {'connected_gene': 'DUSP7', 'score': 10.41}, {'connected_gene': 'WDR82', 'score': 10.4}, {'connected_gene': 'GLYCTK', 'score': 10.4}, {'connected_gene': 'MIR135A1', 'score': 10.39}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.38}, {'connected_gene': 'PCBP4', 'score': 9.99}, {'connected_gene': 'GPR62', 'score': 9.98}, {'connected_gene': 'PBRM1', 'score': 8.5}, {'connected_gene': 'RFT1', 'score': 4.77}, {'connected_gene': 'ALDOAP1', 'score': 0.77}]
chr3	GH03I052185	52185981	52186179	0.45	[{'connected_gene': 'POC1A', 'score': 11.72}, {'connected_gene': 'DUSP7', 'score': 10.42}, {'connected_gene': 'WDR82', 'score': 10.39}, {'connected_gene': 'GLYCTK', 'score': 10.39}, {'connected_gene': 'MIR135A1', 'score': 10.38}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.38}, {'connected_gene': 'PCBP4', 'score': 9.99}, {'connected_gene': 'GPR62', 'score': 9.98}, {'connected_gene': 'ALAS1', 'score': 1.71}, {'connected_gene': 'ALDOAP1', 'score': 0.44}]
chr3	GH03I052183	52183705	52185130	0.38	[{'connected_gene': 'POC1A', 'score': 12.51}, {'connected_gene': 'DUSP7', 'score': 10.42}, {'connected_gene': 'WDR82', 'score': 10.39}, {'connected_gene': 'GLYCTK', 'score': 10.39}, {'connected_gene': 'MIR135A1', 'score': 10.38}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.38}, {'connected_gene': 'PCBP4', 'score': 10.25}, {'connected_gene': 'GPR62', 'score': 9.99}, {'connected_gene': 'TWF2', 'score': 7.39}, {'connected_gene': 'ALDOAP1', 'score': 0.44}]
chr3	GH03I052176	52176718	52177945	1.08	[{'connected_gene': 'POC1A', 'score': 5.37}, {'connected_gene': 'GPR62', 'score': 4.66}, {'connected_gene': 'ALDOAP1', 'score': 0.37}]
chr3	GH03I052119	52119536	52120237	0.31	[{'connected_gene': 'POC1A', 'score': 0.29}, {'connected_gene': 'LINC00696', 'score': 0.23}]
chr3	GH03I052118	52118109	52118712	0.4	[{'connected_gene': 'POC1A', 'score': 0.28}, {'connected_gene': 'LINC00696', 'score': 0.23}]
chr3	GH03I052120	52120402	52123599	1.2	[{'connected_gene': 'POC1A', 'score': 0.29}, {'connected_gene': 'LINC00696', 'score': 0.22}]
chr3	GH03I052144	52144365	52144554	0.94	[{'connected_gene': 'POC1A', 'score': 0.39}, {'connected_gene': 'LINC00696', 'score': 0.18}]
chr3	GH03I052121	52118845	52118909	0.4	[{'connected_gene': 'POC1A', 'score': 0.28}, {'connected_gene': 'LINC00696', 'score': 0.23}]
chr3	GH03I052130	52130489	52132889	0.46	[{'connected_gene': 'POC1A', 'score': 5.18}, {'connected_gene': 'LINC00696', 'score': 0.2}]
chr3	GH03I052085	52085965	52086114	0.43	[{'connected_gene': 'ALAS1', 'score': 4.05}, {'connected_gene': 'LINC00696', 'score': 0.34}, {'connected_gene': 'POC1A', 'score': 0.2}]
chr3	GH03I052108	52108038	52110936	1.21	[{'connected_gene': 'DUSP7', 'score': 12.9}, {'connected_gene': 'ABHD14B', 'score': 11.11}, {'connected_gene': 'PCBP4', 'score': 11.1}, {'connected_gene': 'ABHD14A', 'score': 11.1}, {'connected_gene': 'ABHD14A-ACY1', 'score': 11.1}, {'connected_gene': 'GPR62', 'score': 10.44}, {'connected_gene': 'WDR82', 'score': 9.64}, {'connected_gene': 'GLYCTK', 'score': 9.64}, {'connected_gene': 'MIR135A1', 'score': 9.63}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.63}, {'connected_gene': 'POC1A', 'score': 5.0}, {'connected_gene': 'LINC00696', 'score': 0.26}]
chr3	GH03I052107	52107835	52107966	0.4	[{'connected_gene': 'DUSP7', 'score': 12.9}, {'connected_gene': 'WDR82', 'score': 9.39}, {'connected_gene': 'LINC00696', 'score': 0.26}, {'connected_gene': 'POC1A', 'score': 0.25}]
chr3	GH03I052104	52104430	52106172	0.31	[{'connected_gene': 'DUSP7', 'score': 12.91}, {'connected_gene': 'RPL29', 'score': 10.38}, {'connected_gene': 'WDR82', 'score': 9.39}, {'connected_gene': 'LINC00696', 'score': 0.26}, {'connected_gene': 'POC1A', 'score': 0.25}]
chr3	GH03I052178	52178288	52179485	0.54	[{'connected_gene': 'PPM1M', 'score': 4.82}, {'connected_gene': 'ALDOAP1', 'score': 0.39}, {'connected_gene': 'POC1A', 'score': 0.34}]
chr3	GH03I052175	52175005	52175248	0.65	[{'connected_gene': 'GLYCTK', 'score': 4.15}, {'connected_gene': 'PPM1M', 'score': 2.08}, {'connected_gene': 'WDR82', 'score': 1.77}, {'connected_gene': 'ALDOAP1', 'score': 0.37}, {'connected_gene': 'POC1A', 'score': 0.34}]
chr3	GH03I052072	52072173	52073191	0.2	[{'connected_gene': 'GLYCTK', 'score': 4.8}, {'connected_gene': 'LINC00696', 'score': 0.44}, {'connected_gene': 'POC1A', 'score': 0.18}]
chr3	GH03I052075	52075870	52078430	0.89	[{'connected_gene': 'GPR62', 'score': 4.56}, {'connected_gene': 'ABHD14B', 'score': 4.34}, {'connected_gene': 'LINC00696', 'score': 0.39}, {'connected_gene': 'POC1A', 'score': 0.18}]
chr3	GH03I052127	52127718	52129010	1.13	[{'connected_gene': 'GPR62', 'score': 4.48}, {'connected_gene': 'POC1A', 'score': 0.31}, {'connected_gene': 'LINC00696', 'score': 0.21}]
chr3	GH03I052086	52086485	52092641	1.42	[{'connected_gene': 'GPR62', 'score': 14.5}, {'connected_gene': 'DUSP7', 'score': 13.02}, {'connected_gene': 'PCBP4', 'score': 10.18}, {'connected_gene': 'ABHD14B', 'score': 4.31}, {'connected_gene': 'PPM1M', 'score': 1.66}, {'connected_gene': 'GLYCTK', 'score': 1.38}, {'connected_gene': 'LINC00696', 'score': 0.34}, {'connected_gene': 'POC1A', 'score': 0.2}]
chr3	GH03I052098	52098492	52099382	0.4	[{'connected_gene': 'LINC00696', 'score': 0.29}, {'connected_gene': 'POC1A', 'score': 0.22}]
chr3	GH03I052067	52067037	52071741	0.92	[{'connected_gene': 'LINC00696', 'score': 0.77}, {'connected_gene': 'POC1A', 'score': 0.17}]
chr3	GH03I052081	52081245	52081394	1.08	[{'connected_gene': 'LINC00696', 'score': 0.37}, {'connected_gene': 'POC1A', 'score': 0.19}]
chr3	GH03I052210	52210043	52212147	1.36	[{'connected_gene': 'ENSG00000173366', 'score': 13.08}, {'connected_gene': 'LOC101929054', 'score': 13.05}, {'connected_gene': 'TWF2', 'score': 13.05}, {'connected_gene': 'PPM1M', 'score': 11.57}, {'connected_gene': 'WDR82', 'score': 11.4}, {'connected_gene': 'MIR135A1', 'score': 11.34}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.33}, {'connected_gene': 'GLYCTK', 'score': 11.12}, {'connected_gene': 'POC1A', 'score': 11.09}, {'connected_gene': 'DUSP7', 'score': 11.05}, {'connected_gene': 'PIR51375', 'score': 0.44}, {'connected_gene': 'GC03P052204', 'score': 0.44}, {'connected_gene': 'ENSG00000280003', 'score': 0.44}, {'connected_gene': 'ALAS1', 'score': 0.39}]