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
ENST00000493152	[[48510621, 48510908], [48517479, 48517580], [48523074, 48523163], [48523617, 48523696]]	None
ENST00000484941	[[48510633, 48510908], [48513401, 48513498]]	None
ENST00000481279	[[48510752, 48510908], [48517479, 48517580], [48519865, 48520074]]	None
ENST00000378654	[[48516790, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48575315, 48575462]]	[[48517505, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48575315, 48575405]]
ENST00000544100	[[48517123, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48568934, 48569031], [48570977, 48571158], [48575315, 48575424]]	[[48517505, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562807]]
ENST00000534875	[[48517422, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48575024, 48575110]]	[[48517505, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571074]]
ENST00000543413	[[48517468, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48589306, 48589384], [48611741, 48612125]]	[[48517505, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571074]]
ENST00000467222	[[48517495, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528689]]	None
ENST00000434484	[[48528277, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48575315, 48575376]]	[[48528277, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48575315, 48575376]]
ENST00000433022	[[48528587, 48528692], [48542729, 48542868], [48547398, 48547527], [48575315, 48575409]]	[[48528587, 48528692], [48542729, 48542868], [48547398, 48547527], [48575315, 48575405]]
ENST00000497202	[[48542762, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48568934, 48569031], [48570977, 48571158], [48575315, 48575402]]	None
ENST00000470760	[[48562404, 48562838], [48563016, 48563116], [48570977, 48571158], [48575315, 48575409]]	None
NM_003850	[[48516790, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48575315, 48575462]]	[[48517505, 48517580], [48523074, 48523163], [48523617, 48523738], [48528274, 48528417], [48528530, 48528692], [48542729, 48542868], [48547398, 48547527], [48562675, 48562838], [48563016, 48563116], [48570977, 48571158], [48575315, 48575405]]

Promoter

Chrom	Start	End	Description
chr13	48575377	48575384	CAGE_peak_5_at_SUCLA2_5end
chr13	48575401	48575438	CAGE_peak_1_at_SUCLA2_5end
chr13	48575443	48575464	CAGE_peak_3_at_SUCLA2_5end
chr13	48612067	48612134	CAGE_peak_2_at_SUCLA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I048143	48143880	48145409	1.2	[{'connected_gene': 'ITM2B', 'score': 25.29}, {'connected_gene': 'MED4-AS1', 'score': 10.37}, {'connected_gene': 'SUCLA2', 'score': 9.85}, {'connected_gene': 'RCBTB2', 'score': 4.28}, {'connected_gene': 'RB1', 'score': 1.73}, {'connected_gene': 'MED4', 'score': 1.35}, {'connected_gene': 'POLR2KP2', 'score': 0.39}, {'connected_gene': 'LOC105370198', 'score': 0.34}]
chr13	GH13I047903	47903801	47904670	1.12	[{'connected_gene': 'SUCLA2', 'score': 9.33}, {'connected_gene': 'RB1', 'score': 1.93}, {'connected_gene': 'LINC00444', 'score': 0.77}, {'connected_gene': 'ENSG00000228573', 'score': 0.2}]
chr13	GH13I047951	47951986	47952000	0.24	[{'connected_gene': 'SUCLA2', 'score': 3.14}, {'connected_gene': 'MED4', 'score': 1.57}, {'connected_gene': 'LINC00562', 'score': 0.37}]
chr13	GH13I047999	47999971	48003128	1.98	[{'connected_gene': 'SUCLA2', 'score': 570.91}, {'connected_gene': 'SUCLA2-AS1', 'score': 560.02}, {'connected_gene': 'MED4', 'score': 12.4}, {'connected_gene': 'MED4-AS1', 'score': 11.18}, {'connected_gene': 'GC13P048033', 'score': 0.29}, {'connected_gene': 'GC13P048032', 'score': 0.29}, {'connected_gene': 'PIR59035', 'score': 0.29}]
chr13	GH13I048004	48004277	48004552	0.2	[{'connected_gene': 'SUCLA2', 'score': 9.0}, {'connected_gene': 'SUCLA2-AS1', 'score': 0.77}, {'connected_gene': 'GC13P048033', 'score': 0.31}, {'connected_gene': 'GC13P048032', 'score': 0.31}, {'connected_gene': 'PIR59035', 'score': 0.31}]
chr13	GH13I048008	48008502	48010325	0.68	[{'connected_gene': 'SUCLA2', 'score': 20.57}, {'connected_gene': 'SUCLA2-AS1', 'score': 0.44}, {'connected_gene': 'GC13P048033', 'score': 0.34}, {'connected_gene': 'GC13P048032', 'score': 0.34}, {'connected_gene': 'PIR59035', 'score': 0.34}]
chr13	GH13I048151	48151066	48152587	0.6	[{'connected_gene': 'SUCLA2', 'score': 7.81}, {'connected_gene': 'MED4-AS1', 'score': 7.77}, {'connected_gene': 'LOC105370198', 'score': 0.39}, {'connected_gene': 'POLR2KP2', 'score': 0.37}]
chr13	GH13I047816	47816857	47817345	0.43	[{'connected_gene': 'SUCLA2', 'score': 5.14}, {'connected_gene': 'ENSG00000228573', 'score': 0.37}, {'connected_gene': 'RPL27AP8', 'score': 0.23}]
chr13	GH13I048036	48036242	48040718	2.09	[{'connected_gene': 'NUDT15', 'score': 556.3}, {'connected_gene': 'PPP1R26P1', 'score': 26.36}, {'connected_gene': 'MED4', 'score': 23.53}, {'connected_gene': 'SUCLA2', 'score': 10.19}, {'connected_gene': 'SUCLA2-AS1', 'score': 10.06}, {'connected_gene': 'ENSG00000276968', 'score': 0.77}]
chr13	GH13I048096	48096148	48097203	0.77	[{'connected_gene': 'MED4', 'score': 550.77}, {'connected_gene': 'ITM2B', 'score': 11.04}, {'connected_gene': 'SUCLA2', 'score': 9.98}, {'connected_gene': 'MED4-AS1', 'score': 6.58}, {'connected_gene': 'POLR2KP2', 'score': 0.28}]
chr13	GH13I048123	48123852	48127934	1.06	[{'connected_gene': 'MED4', 'score': 23.55}, {'connected_gene': 'ITM2B', 'score': 13.04}, {'connected_gene': 'MED4-AS1', 'score': 13.02}, {'connected_gene': 'SUCLA2', 'score': 9.86}, {'connected_gene': 'POLR2KP2', 'score': 0.44}, {'connected_gene': 'LOC105370198', 'score': 0.26}]
chr13	GH13I047933	47933157	47934971	0.86	[{'connected_gene': 'LINC00562', 'score': 550.77}, {'connected_gene': 'MED4', 'score': 12.42}, {'connected_gene': 'SUCLA2', 'score': 0.2}]
chr13	GH13I048043	48043601	48044001	0.43	[{'connected_gene': 'ENSG00000276968', 'score': 550.77}, {'connected_gene': 'SUCLA2', 'score': 20.4}, {'connected_gene': 'MED4-AS1', 'score': 12.03}, {'connected_gene': 'MED4', 'score': 11.97}, {'connected_gene': 'NUDT15', 'score': 0.44}]