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
ENST00000598057	[[42460832, 42461494]]	None
ENST00000600292	[[42460832, 42461042], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463418]]	[[42461037, 42461042], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463418]]
ENST00000601891	[[42460832, 42461086], [42462437, 42462535], [42462887, 42463100], [42463388, 42463451]]	[[42460997, 42461086], [42462437, 42462535], [42462887, 42463100], [42463388, 42463444]]
ENST00000222008	[[42460832, 42461086], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463542]]	[[42460997, 42461086], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463444]]
ENST00000601028	[[42460837, 42461086], [42461169, 42461271], [42462887, 42463066]]	[[42461037, 42461086], [42461169, 42461271], [42462887, 42463066]]
ENST00000595226	[[42460843, 42461086], [42461169, 42461651]]	None
ENST00000601078	[[42460932, 42461086], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463266, 42463427]]	[[42460997, 42461086], [42461169, 42461271], [42462437, 42462522]]
ENST00000596171	[[42461185, 42461271], [42462437, 42462535], [42462887, 42463462]]	None
ENST00000601476	[[42462010, 42462535], [42462887, 42463100], [42463388, 42463421]]	None
ENST00000599219	[[42462303, 42462535], [42462887, 42463454]]	None
NM_006423	[[42460832, 42461086], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463528]]	[[42460997, 42461086], [42461169, 42461271], [42462437, 42462535], [42462887, 42463100], [42463388, 42463444]]

Promoter

Chrom	Start	End	Description
chr19	42463447	42463513	CAGE_peak_1_at_RABAC1_5end
chr19	42463667	42463676	CAGE_peak_3_at_RABAC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I041867	41867766	41880062	2.18	[{'connected_gene': 'CD79A', 'score': 567.72}, {'connected_gene': 'ARHGEF1', 'score': 24.51}, {'connected_gene': 'ZNF526', 'score': 22.27}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'CCDC97', 'score': 14.25}, {'connected_gene': 'RABAC1', 'score': 13.3}, {'connected_gene': 'ZNF574', 'score': 10.73}, {'connected_gene': 'POU2F2', 'score': 5.49}, {'connected_gene': 'DEDD2', 'score': 3.47}, {'connected_gene': 'CEACAM4', 'score': 2.44}, {'connected_gene': 'CEACAM21', 'score': 1.72}, {'connected_gene': 'CEACAM3', 'score': 1.54}, {'connected_gene': 'MIR6797', 'score': 0.77}, {'connected_gene': 'RPS19', 'score': 0.39}]
chr19	GH19I041943	41943854	41947358	1.15	[{'connected_gene': 'ARHGEF1', 'score': 18.58}, {'connected_gene': 'CIC', 'score': 11.14}, {'connected_gene': 'RABAC1', 'score': 9.05}, {'connected_gene': 'DEDD2', 'score': 1.94}, {'connected_gene': 'ZNF574', 'score': 1.87}, {'connected_gene': 'LOC100505585', 'score': 0.37}]
chr19	GH19I041882	41882073	41891244	2.34	[{'connected_gene': 'ARHGEF1', 'score': 555.26}, {'connected_gene': 'ZNF526', 'score': 93.74}, {'connected_gene': 'HNRNPUL1', 'score': 84.25}, {'connected_gene': 'CCDC97', 'score': 78.97}, {'connected_gene': 'ZNF574', 'score': 59.53}, {'connected_gene': 'RPS19', 'score': 23.3}, {'connected_gene': 'RABAC1', 'score': 16.1}, {'connected_gene': 'CYP2G1P', 'score': 15.86}, {'connected_gene': 'MEGF8', 'score': 14.39}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'CIC', 'score': 10.94}, {'connected_gene': 'TMEM145', 'score': 9.9}, {'connected_gene': 'LOC390937', 'score': 6.13}, {'connected_gene': 'PCAT19', 'score': 5.1}, {'connected_gene': 'PLEKHA3P1', 'score': 5.02}]
chr19	GH19I041859	41859074	41864943	2.12	[{'connected_gene': 'RPS19', 'score': 570.32}, {'connected_gene': 'PIR51753', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 50.73}, {'connected_gene': 'CCDC97', 'score': 45.88}, {'connected_gene': 'HNRNPUL1', 'score': 41.41}, {'connected_gene': 'ZNF574', 'score': 38.18}, {'connected_gene': 'RABAC1', 'score': 19.08}, {'connected_gene': 'CIC', 'score': 10.62}, {'connected_gene': 'ARHGEF1', 'score': 10.33}, {'connected_gene': 'MIR6797', 'score': 0.44}]
chr19	GH19I041993	41993649	41994601	1.81	[{'connected_gene': 'ATP1A3', 'score': 550.77}, {'connected_gene': 'ZNF574', 'score': 14.62}, {'connected_gene': 'RABAC1', 'score': 0.29}]
chr19	GH19I041996	41996009	41996293	0.83	[{'connected_gene': 'ATP1A3', 'score': 552.08}, {'connected_gene': 'GRIK5', 'score': 18.75}, {'connected_gene': 'DMRTC2', 'score': 4.2}, {'connected_gene': 'LYPD4', 'score': 4.08}, {'connected_gene': 'LIPE', 'score': 3.25}, {'connected_gene': 'TMEM145', 'score': 2.22}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I041989	41989762	41990078	0.59	[{'connected_gene': 'ATP1A3', 'score': 12.3}, {'connected_gene': 'TMEM145', 'score': 10.6}, {'connected_gene': 'GRIK5', 'score': 3.08}, {'connected_gene': 'MEGF8', 'score': 1.64}, {'connected_gene': 'RABAC1', 'score': 0.29}]
chr19	GH19I041997	41996749	41997504	1.06	[{'connected_gene': 'ATP1A3', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 14.17}, {'connected_gene': 'HNRNPUL1', 'score': 11.82}, {'connected_gene': 'MEGF8', 'score': 10.32}, {'connected_gene': 'CCDC97', 'score': 10.25}, {'connected_gene': 'TMEM145', 'score': 1.86}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I041928	41928239	41929698	1.53	[{'connected_gene': 'LOC390937', 'score': 550.77}, {'connected_gene': 'LOC100505585', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 58.48}, {'connected_gene': 'ZNF574', 'score': 48.92}, {'connected_gene': 'HNRNPUL1', 'score': 42.53}, {'connected_gene': 'CCDC97', 'score': 38.6}, {'connected_gene': 'RABAC1', 'score': 31.4}, {'connected_gene': 'ARHGEF1', 'score': 0.25}]
chr19	GH19I041929	41929949	41930098	0.65	[{'connected_gene': 'LOC390937', 'score': 550.77}, {'connected_gene': 'LOC100505585', 'score': 550.77}, {'connected_gene': 'RABAC1', 'score': 0.31}, {'connected_gene': 'ARHGEF1', 'score': 0.25}]
chr19	GH19I041930	41930329	41930478	0.76	[{'connected_gene': 'LOC390937', 'score': 550.77}, {'connected_gene': 'LOC100505585', 'score': 550.77}, {'connected_gene': 'RABAC1', 'score': 0.31}]
chr19	GH19I041195	41195263	41196866	1.02	[{'connected_gene': 'AKT2', 'score': 15.04}, {'connected_gene': 'ENSG00000269843', 'score': 12.16}, {'connected_gene': 'SNRPA', 'score': 11.86}, {'connected_gene': 'HNRNPUL1', 'score': 11.6}, {'connected_gene': 'CCDC97', 'score': 10.31}, {'connected_gene': 'ZNF574', 'score': 9.85}, {'connected_gene': 'ITPKC', 'score': 7.84}, {'connected_gene': 'CYP2F1', 'score': 6.32}, {'connected_gene': 'RABAC1', 'score': 4.42}, {'connected_gene': 'TGFB1', 'score': 3.49}, {'connected_gene': 'CYP2A13', 'score': 1.53}, {'connected_gene': 'COQ8B', 'score': 1.44}, {'connected_gene': 'CYP2S1', 'score': 0.77}, {'connected_gene': 'GC19P041185', 'score': 0.39}, {'connected_gene': 'AXL', 'score': 0.34}]
chr19	GH19I041934	41934332	41936975	1.41	[{'connected_gene': 'MEGF8', 'score': 20.81}, {'connected_gene': 'ZNF526', 'score': 17.35}, {'connected_gene': 'GRIK5', 'score': 11.89}, {'connected_gene': 'HNRNPUL1', 'score': 11.42}, {'connected_gene': 'CCDC97', 'score': 10.52}, {'connected_gene': 'ZNF574', 'score': 10.05}, {'connected_gene': 'RABAC1', 'score': 9.24}, {'connected_gene': 'ARHGEF1', 'score': 6.3}, {'connected_gene': 'DEDD2', 'score': 1.62}, {'connected_gene': 'LOC100505585', 'score': 0.44}]
chr19	GH19I041951	41951600	41952001	1.15	[{'connected_gene': 'ZNF526', 'score': 12.82}, {'connected_gene': 'HNRNPUL1', 'score': 12.79}, {'connected_gene': 'CD79A', 'score': 12.23}, {'connected_gene': 'RPS19', 'score': 11.98}, {'connected_gene': 'ATP1A3', 'score': 11.26}, {'connected_gene': 'RABAC1', 'score': 9.76}, {'connected_gene': 'LOC100505585', 'score': 0.34}]
chr19	GH19I041772	41772122	41776509	0.93	[{'connected_gene': 'HNRNPUL1', 'score': 17.55}, {'connected_gene': 'ZNF526', 'score': 15.61}, {'connected_gene': 'CCDC97', 'score': 15.09}, {'connected_gene': 'ENSG00000269843', 'score': 12.96}, {'connected_gene': 'CEACAM5', 'score': 11.08}, {'connected_gene': 'CEACAM7', 'score': 10.78}, {'connected_gene': 'ERF', 'score': 10.32}, {'connected_gene': 'RPS19', 'score': 9.84}, {'connected_gene': 'HNRNPA1P52', 'score': 9.17}, {'connected_gene': 'RABAC1', 'score': 8.22}, {'connected_gene': 'ENSG00000268833', 'score': 0.39}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19	GH19I041726	41726323	41728219	0.38	[{'connected_gene': 'CEACAM7', 'score': 10.97}, {'connected_gene': 'CEACAM4', 'score': 10.31}, {'connected_gene': 'DMAC2', 'score': 9.78}, {'connected_gene': 'ERICH4', 'score': 9.57}, {'connected_gene': 'RABAC1', 'score': 4.65}, {'connected_gene': 'ENSG00000267881', 'score': 0.37}, {'connected_gene': 'CEACAM5', 'score': 0.37}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19	GH19I041937	41937573	41941866	1.4	[{'connected_gene': 'RABAC1', 'score': 31.76}, {'connected_gene': 'CD79A', 'score': 13.6}, {'connected_gene': 'ARHGEF1', 'score': 3.87}, {'connected_gene': 'POU2F2', 'score': 2.99}, {'connected_gene': 'LOC100505585', 'score': 0.39}]
chr19	GH19I041966	41966601	41967800	0.66	[{'connected_gene': 'RABAC1', 'score': 8.42}, {'connected_gene': 'ATP1A3', 'score': 0.29}]
chr19	GH19I041968	41968969	41969118	0.2	[{'connected_gene': 'RABAC1', 'score': 0.44}, {'connected_gene': 'ATP1A3', 'score': 0.31}]
chr19	GH19I041957	41957194	41960075	2.27	[{'connected_gene': 'RABAC1', 'score': 581.59}, {'connected_gene': 'ZNF526', 'score': 76.06}, {'connected_gene': 'HNRNPUL1', 'score': 54.68}, {'connected_gene': 'CCDC97', 'score': 35.89}, {'connected_gene': 'ZNF574', 'score': 32.05}, {'connected_gene': 'RPS19', 'score': 21.65}, {'connected_gene': 'MEGF8', 'score': 14.39}, {'connected_gene': 'CD79A', 'score': 12.22}, {'connected_gene': 'ATP1A3', 'score': 11.29}, {'connected_gene': 'ERF', 'score': 10.34}, {'connected_gene': 'TMEM145', 'score': 9.91}, {'connected_gene': 'LOC100505585', 'score': 0.31}]
chr19	GH19I041730	41730594	41731246	0.2	[{'connected_gene': 'CEACAM5', 'score': 12.01}, {'connected_gene': 'CEACAM7', 'score': 10.97}, {'connected_gene': 'CEACAM4', 'score': 10.31}, {'connected_gene': 'DMAC2', 'score': 9.78}, {'connected_gene': 'ERICH4', 'score': 9.57}, {'connected_gene': 'RABAC1', 'score': 5.06}, {'connected_gene': 'ENSG00000267881', 'score': 0.34}, {'connected_gene': 'CEACAM6', 'score': 0.34}]
chr19	GH19I041932	41930609	41930758	0.73	[{'connected_gene': 'LOC100505585', 'score': 550.77}, {'connected_gene': 'RABAC1', 'score': 0.31}]
chr19	GH19I041931	41931369	41931518	0.71	[{'connected_gene': 'LOC100505585', 'score': 0.77}, {'connected_gene': 'RABAC1', 'score': 0.31}]
chr19	GH19I041784	41784547	41786262	1.32	[{'connected_gene': 'ENSG00000268833', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 12.82}, {'connected_gene': 'HNRNPA1P52', 'score': 12.22}, {'connected_gene': 'CEACAM5', 'score': 11.13}, {'connected_gene': 'RABAC1', 'score': 10.74}, {'connected_gene': 'CEACAM4', 'score': 9.7}, {'connected_gene': 'DMAC2', 'score': 9.39}]