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
ENST00000310054	[[41698953, 41699346], [41700448, 41700614], [41703683, 41703833], [41704366, 41704527], [41704613, 41704793], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41713444]]	[[41699169, 41699346], [41700448, 41700614], [41703683, 41703833], [41704366, 41704527], [41704613, 41704793], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712393]]
ENST00000597754	[[41699114, 41699346], [41707135, 41707277], [41709354, 41709542], [41711862, 41711880]]	[[41699169, 41699346], [41707135, 41707277], [41709354, 41709542], [41711862, 41711880]]
ENST00000593545	[[41699143, 41699346], [41700448, 41700614], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712822]]	[[41699169, 41699346], [41700448, 41700614], [41707135, 41707277], [41709354, 41709367]]
ENST00000542619	[[41699143, 41699346], [41700448, 41700614], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712822]]	[[41700605, 41700614], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712393]]
ENST00000600561	[[41699151, 41699346], [41700448, 41700614], [41703683, 41703833], [41707135, 41707204]]	[[41699169, 41699346], [41700448, 41700614], [41703683, 41703833], [41707135, 41707204]]
ENST00000595590	[[41699626, 41699718], [41700448, 41700614], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712213]]	[[41700586, 41700614], [41707135, 41707277], [41709354, 41709367]]
ENST00000593890	[[41707197, 41707277], [41711862, 41712004], [41712184, 41712472]]	[[41707197, 41707277], [41711862, 41712004]]
NM_030622	[[41699111, 41699346], [41700448, 41700614], [41703683, 41703833], [41704366, 41704527], [41704613, 41704793], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41713444]]	[[41699169, 41699346], [41700448, 41700614], [41703683, 41703833], [41704366, 41704527], [41704613, 41704793], [41707135, 41707277], [41709354, 41709542], [41711862, 41712004], [41712184, 41712393]]

Promoter

Chrom	Start	End	Description
chr19	41698927	41698955	CAGE_peak_4_at_CYP2S1_5end
chr19	41699103	41699129	CAGE_peak_2_at_CYP2S1_5end
chr19	41699135	41699159	CAGE_peak_1_at_CYP2S1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I041172	41172008	41177485	1.22	[{'connected_gene': 'CYP2S1', 'score': 13.43}, {'connected_gene': 'AXL', 'score': 12.02}, {'connected_gene': 'CYP2F1', 'score': 11.42}, {'connected_gene': 'NUMBL', 'score': 10.32}, {'connected_gene': 'DMAC2', 'score': 9.5}, {'connected_gene': 'PCAT19', 'score': 5.73}, {'connected_gene': 'RPL36P16', 'score': 0.77}, {'connected_gene': 'GC19P041185', 'score': 0.39}]
chr19	GH19I041206	41206352	41207978	0.89	[{'connected_gene': 'CYP2S1', 'score': 0.39}, {'connected_gene': 'AXL', 'score': 0.39}]
chr19	GH19I041192	41192196	41194761	2.04	[{'connected_gene': 'CYP2S1', 'score': 554.94}, {'connected_gene': 'GC19P041185', 'score': 0.44}, {'connected_gene': 'AXL', 'score': 0.31}]
chr19	GH19I041204	41204203	41205005	0.84	[{'connected_gene': 'CYP2S1', 'score': 0.39}, {'connected_gene': 'AXL', 'score': 0.39}]
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	GH19I041188	41188931	41190973	0.9	[{'connected_gene': 'RN7SL718P', 'score': 550.77}, {'connected_gene': 'CYP2S1', 'score': 10.06}, {'connected_gene': 'GC19P041185', 'score': 0.77}]
chr19	GH19I041186	41186199	41188153	0.51	[{'connected_gene': 'GC19P041185', 'score': 550.77}, {'connected_gene': 'CYP2S1', 'score': 11.38}, {'connected_gene': 'RN7SL718P', 'score': 0.77}]