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
ENST00000232461	[[50229044, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087], [50232197, 50232389], [50232700, 50233949]]	[[50229158, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087]]
ENST00000433068	[[50229102, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087], [50232197, 50232389], [50233834, 50233948]]	[[50229158, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087]]
ENST00000440836	[[50230104, 50230155], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231270]]	[[50230603, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231270]]
ENST00000467787	[[50230130, 50230417], [50230565, 50230606]]	None
ENST00000481246	[[50231004, 50231096], [50231185, 50231314], [50231500, 50231615]]	None
NM_000172	[[50229042, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087], [50232197, 50232389], [50233834, 50235129]]	[[50229158, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087]]
NM_144499	[[50229042, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087], [50232197, 50232389], [50232700, 50235129]]	[[50229158, 50229264], [50230565, 50230608], [50230697, 50230839], [50230938, 50231096], [50231185, 50231314], [50231524, 50231654], [50231933, 50232087]]

Promoter

Chrom	Start	End	Description
chr3	50229037	50229052	CAGE_peak_1_at_GNAT1_5end
chr3	50230108	50230114	CAGE_peak_5_at_GNAT1_5end
chr3	50230129	50230138	CAGE_peak_3_at_GNAT1_5end
chr3	50230183	50230193	CAGE_peak_4_at_GNAT1_5end
chr3	50230292	50230317	CAGE_peak_2_at_GNAT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050192	50192274	50196569	1.21	[{'connected_gene': 'HYAL3', 'score': 21.62}, {'connected_gene': 'RBM6', 'score': 20.73}, {'connected_gene': 'GNAI2', 'score': 13.03}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.11}, {'connected_gene': 'SEMA3F', 'score': 12.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.06}, {'connected_gene': 'SEMA3B', 'score': 12.06}, {'connected_gene': 'LSMEM2', 'score': 12.05}, {'connected_gene': 'HYAL1', 'score': 11.69}, {'connected_gene': 'IFRD2', 'score': 11.21}, {'connected_gene': 'RBM5', 'score': 10.65}, {'connected_gene': 'IP6K1', 'score': 9.88}, {'connected_gene': 'PHF5EP', 'score': 9.88}, {'connected_gene': 'MON1A', 'score': 9.45}, {'connected_gene': 'GNAT1', 'score': 0.77}, {'connected_gene': 'SLC38A3', 'score': 0.39}]
chr3	GH03I050134	50134285	50134317	0.33	[{'connected_gene': 'GNAT1', 'score': 4.34}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.34}, {'connected_gene': 'SEMA3F', 'score': 0.34}, {'connected_gene': 'RBM5-AS1', 'score': 0.29}]
chr3	GH03I050191	50191561	50191620	0.5	[{'connected_gene': 'GNAT1', 'score': 550.77}, {'connected_gene': 'GC03P050192', 'score': 550.77}, {'connected_gene': 'GC03P050191', 'score': 550.77}]
chr3	GH03I050201	50201679	50206501	2.06	[{'connected_gene': 'SLC38A3', 'score': 557.57}, {'connected_gene': 'RBM6', 'score': 15.59}, {'connected_gene': 'GNAI2', 'score': 13.11}, {'connected_gene': 'SEMA3B-AS1', 'score': 12.15}, {'connected_gene': 'SEMA3B', 'score': 12.15}, {'connected_gene': 'LSMEM2', 'score': 12.13}, {'connected_gene': 'CYB561D2', 'score': 11.97}, {'connected_gene': 'HYAL3', 'score': 11.95}, {'connected_gene': 'SEMA3F', 'score': 11.71}, {'connected_gene': 'SEMA3F-AS1', 'score': 11.4}, {'connected_gene': 'RBM5', 'score': 10.47}, {'connected_gene': 'HYAL1', 'score': 5.96}, {'connected_gene': 'MST1', 'score': 4.75}, {'connected_gene': 'MAPKAPK3', 'score': 4.08}, {'connected_gene': 'GNAT1', 'score': 0.39}]