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
ENST00000447092	[[50355220, 50355970], [50356386, 50356476], [50356999, 50360213]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]
ENST00000357750	[[50355226, 50355970], [50356386, 50356476], [50356999, 50357966], [50360083, 50360337]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]
ENST00000395139	[[50355239, 50355970], [50356386, 50356476], [50356999, 50357966], [50358796, 50359144]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]
ENST00000442581	[[50355242, 50355970], [50356386, 50356476], [50356999, 50357966], [50358796, 50359204], [50360083, 50360208]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]
ENST00000481597	[[50356019, 50356476], [50356999, 50357966], [50360083, 50360172]]	None
ENST00000458018	[[50357557, 50357966], [50358312, 50358648]]	[[50357557, 50357920]]
ENST00000424190	[[50357567, 50357966], [50358267, 50358418]]	[[50357567, 50357920]]
ENST00000426286	[[50357676, 50357966], [50358312, 50358379]]	[[50357676, 50357920]]
ENST00000428028	[[50357690, 50357966], [50358998, 50359204], [50360083, 50360172]]	[[50357690, 50357920]]
ENST00000415028	[[50357777, 50357966], [50358468, 50358580]]	[[50357777, 50357920]]
NM_033158	[[50355220, 50355970], [50356386, 50356476], [50356999, 50357966], [50358796, 50359204], [50360083, 50360281]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]
NM_003773	[[50355220, 50355970], [50356386, 50356476], [50356999, 50357966], [50360083, 50360281]]	[[50355559, 50355970], [50356386, 50356476], [50356999, 50357920]]

Promoter

Chrom	Start	End	Description
chr3	50358858	50358869	CAGE_peak_4_at_HYAL2_5end
chr3	50358886	50358915	CAGE_peak_1_at_HYAL2_5end
chr3	50360165	50360183	CAGE_peak_2_at_HYAL2_5end
chr3	50360192	50360204	CAGE_peak_3_at_HYAL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I050319	50319945	50325161	2.26	[{'connected_gene': 'HYAL2', 'score': 550.77}, {'connected_gene': 'RBM6', 'score': 50.38}, {'connected_gene': 'RBM5', 'score': 34.56}, {'connected_gene': 'AMT', 'score': 33.95}, {'connected_gene': 'SEMA3F-AS1', 'score': 25.23}, {'connected_gene': 'TMEM115', 'score': 24.59}, {'connected_gene': 'HYAL3', 'score': 20.46}, {'connected_gene': 'RHOA-IT1', 'score': 14.58}, {'connected_gene': 'RASSF1', 'score': 10.2}, {'connected_gene': 'HEMK1', 'score': 9.78}, {'connected_gene': 'HYAL1', 'score': 8.33}, {'connected_gene': 'CYB561D2', 'score': 6.55}, {'connected_gene': 'GC03M050319', 'score': 0.77}, {'connected_gene': 'GC03M050318', 'score': 0.77}, {'connected_gene': 'TUSC2', 'score': 0.44}]
chr3	GH03I050154	50154448	50173170	2.73	[{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
chr3	GH03I050327	50327044	50329029	2.17	[{'connected_gene': 'TUSC2', 'score': 550.77}, {'connected_gene': 'NAT6', 'score': 23.25}, {'connected_gene': 'HYAL3', 'score': 13.44}, {'connected_gene': 'HYAL1', 'score': 5.06}, {'connected_gene': 'MST1', 'score': 4.44}, {'connected_gene': 'HYAL2', 'score': 0.44}]
chr3	GH03I050316	50316058	50319291	1.56	[{'connected_gene': 'GC03M050319', 'score': 550.77}, {'connected_gene': 'GC03M050318', 'score': 550.77}, {'connected_gene': 'HYAL1', 'score': 8.71}, {'connected_gene': 'CYB561D2', 'score': 7.29}, {'connected_gene': 'MST1R', 'score': 1.31}, {'connected_gene': 'HYAL2', 'score': 0.44}]