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
ENST00000250113	[[7494547, 7495243], [7495571, 7495672], [7495821, 7495917], [7496011, 7496212], [7496301, 7496499], [7496720, 7496943], [7497235, 7497322], [7497555, 7497665], [7497996, 7498075], [7499141, 7499312], [7504726, 7504843], [7506226, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509414, 7509467], [7517769, 7518185]]	[[7495147, 7495243], [7495571, 7495672], [7495821, 7495917], [7496011, 7496212], [7496301, 7496499], [7496720, 7496943], [7497235, 7497322], [7497555, 7497665], [7497996, 7498075], [7499141, 7499312], [7504726, 7504843], [7506226, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509414, 7509467], [7517769, 7517850]]
ENST00000573057	[[7494759, 7495243], [7495388, 7495475], [7495571, 7495675]]	None
ENST00000571079	[[7496896, 7496943], [7497235, 7497650]]	None
ENST00000573957	[[7497692, 7498075], [7499141, 7499312], [7504726, 7504754]]	None
ENST00000574490	[[7497989, 7498075], [7499141, 7499798]]	None
ENST00000576693	[[7506050, 7506320], [7507074, 7507223], [7507326, 7507384]]	None
ENST00000571597	[[7506285, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509333, 7509467], [7518108, 7518189]]	[[7506285, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509333, 7509338]]
NM_004860	[[7494547, 7495243], [7495571, 7495672], [7495821, 7495917], [7496011, 7496212], [7496301, 7496499], [7496720, 7496943], [7497235, 7497322], [7497555, 7497665], [7497996, 7498075], [7499141, 7499312], [7504726, 7504843], [7506226, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509414, 7509467], [7517769, 7518215]]	[[7495147, 7495243], [7495571, 7495672], [7495821, 7495917], [7496011, 7496212], [7496301, 7496499], [7496720, 7496943], [7497235, 7497322], [7497555, 7497665], [7497996, 7498075], [7499141, 7499312], [7504726, 7504843], [7506226, 7506320], [7507074, 7507223], [7507326, 7507398], [7508962, 7509056], [7509414, 7509467], [7517769, 7517850]]

Promoter

Chrom	Start	End	Description
chr17	7517889	7517911	CAGE_peak_2_at_FXR2_5end
chr17	7518066	7518089	CAGE_peak_3_at_FXR2_5end
chr17	7518145	7518234	CAGE_peak_1_at_FXR2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I007613	7613113	7616010	1.99	[{'connected_gene': 'SHBG', 'score': 550.77}, {'connected_gene': 'FXR2', 'score': 550.77}, {'connected_gene': 'TNFSF12', 'score': 18.76}, {'connected_gene': 'SNORD10', 'score': 14.27}, {'connected_gene': 'SOX15', 'score': 12.97}, {'connected_gene': 'LOC100996842', 'score': 12.95}, {'connected_gene': 'MPDU1', 'score': 12.93}, {'connected_gene': 'DVL2', 'score': 12.79}, {'connected_gene': 'ATP1B2', 'score': 12.01}, {'connected_gene': 'SNORA48', 'score': 11.94}, {'connected_gene': 'PFAS', 'score': 11.88}, {'connected_gene': 'WRAP53', 'score': 11.65}, {'connected_gene': 'TP53', 'score': 11.65}, {'connected_gene': 'CTC1', 'score': 11.27}, {'connected_gene': 'EFNB3', 'score': 10.98}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.83}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'PER1', 'score': 10.19}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.87}]
chr17	GH17I007676	7676489	7678200	0.49	[{'connected_gene': 'EFNB3', 'score': 21.21}, {'connected_gene': 'ATP1B2', 'score': 12.06}, {'connected_gene': 'DNAH2', 'score': 11.34}, {'connected_gene': 'FXR2', 'score': 11.34}, {'connected_gene': 'WRAP53', 'score': 0.44}, {'connected_gene': 'TP53', 'score': 0.39}, {'connected_gene': 'GC17P007727', 'score': 0.34}]
chr17	GH17I007586	7586460	7592159	1.72	[{'connected_gene': 'GC17M007593', 'score': 550.77}, {'connected_gene': 'SOX15', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 25.47}, {'connected_gene': 'TNFSF12', 'score': 10.04}, {'connected_gene': 'CHRNB1', 'score': 6.05}, {'connected_gene': 'ATP1B2', 'score': 5.26}, {'connected_gene': 'LOC100996842', 'score': 0.77}, {'connected_gene': 'MPDU1', 'score': 0.44}, {'connected_gene': 'FXR2', 'score': 0.31}]