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
ENST00000282728	[[94447944, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94455403]]	[[94449743, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94454525]]
ENST00000551454	[[94449711, 94450104], [94451326, 94452240]]	None
ENST00000472590	[[94450842, 94451856], [94452124, 94452303], [94452458, 94452509], [94454303, 94454845]]	[[94452279, 94452303], [94452458, 94452509], [94454303, 94454525]]
ENST00000492654	[[94451611, 94452303], [94452458, 94452509], [94454303, 94454545]]	[[94452279, 94452303], [94452458, 94452509], [94454303, 94454525]]
NM_002729	[[94449680, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94455408]]	[[94449743, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94454525]]

Promoter

Chrom	Start	End	Description
chr10	94449649	94449664	CAGE_peak_3_at_HHEX_5end
chr10	94449675	94449694	CAGE_peak_2_at_HHEX_5end
chr10	94449703	94449718	CAGE_peak_1_at_HHEX_5end
chr10	94451574	94451587	CAGE_peak_6_at_HHEX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I092754	92754239	92758466	1.94	[{'connected_gene': 'BTAF1', 'score': 43.86}, {'connected_gene': 'RPL17P34', 'score': 31.97}, {'connected_gene': 'PDE6C', 'score': 12.09}, {'connected_gene': 'TNKS2', 'score': 9.78}, {'connected_gene': 'MARK2P9', 'score': 6.0}, {'connected_gene': 'EXOC6', 'score': 2.84}, {'connected_gene': 'MARCH5', 'score': 2.78}, {'connected_gene': 'HHEX', 'score': 2.63}, {'connected_gene': 'GC10P092747', 'score': 0.44}, {'connected_gene': 'GC10M092781', 'score': 0.31}]
chr10	GH10I092845	92845601	92849947	2.18	[{'connected_gene': 'EXOC6', 'score': 550.39}, {'connected_gene': 'HHEX', 'score': 11.38}, {'connected_gene': 'PDE6C', 'score': 4.73}, {'connected_gene': 'ENSG00000225118', 'score': 0.29}]
chr10	GH10I093333	93333092	93335940	0.67	[{'connected_gene': 'CYP26C1', 'score': 10.44}, {'connected_gene': 'ENSG00000226425', 'score': 10.44}, {'connected_gene': 'MYOF', 'score': 7.56}, {'connected_gene': 'HHEX', 'score': 4.26}, {'connected_gene': 'GC10P093383', 'score': 0.25}, {'connected_gene': 'RPL17P34', 'score': 0.25}]
chr10	GH10I092688	92688560	92698661	2.48	[{'connected_gene': 'HHEX', 'score': 565.95}, {'connected_gene': 'BTAF1', 'score': 33.91}, {'connected_gene': 'RPL17P34', 'score': 27.24}, {'connected_gene': 'PDE6C', 'score': 25.3}, {'connected_gene': 'KIF11', 'score': 16.39}, {'connected_gene': 'IDE', 'score': 11.89}, {'connected_gene': 'TNKS2', 'score': 10.36}, {'connected_gene': 'EIF2S2P3', 'score': 4.68}, {'connected_gene': 'GC10M092666', 'score': 0.77}]
chr10	GH10I092640	92640244	92640393	0.57	[{'connected_gene': 'HHEX', 'score': 11.61}, {'connected_gene': 'KIF11', 'score': 11.04}, {'connected_gene': 'IDE', 'score': 11.0}, {'connected_gene': 'RN7SL644P', 'score': 0.37}, {'connected_gene': 'GC10P092612', 'score': 0.31}]
chr10	GH10I092644	92644110	92645118	0.97	[{'connected_gene': 'HHEX', 'score': 11.95}, {'connected_gene': 'KIF11', 'score': 11.55}, {'connected_gene': 'IDE', 'score': 11.51}, {'connected_gene': 'RN7SL644P', 'score': 0.39}, {'connected_gene': 'GC10P092612', 'score': 0.29}]
chr10	GH10I092699	92699201	92700600	1.54	[{'connected_gene': 'EIF2S2P3', 'score': 7.7}, {'connected_gene': 'HHEX', 'score': 7.0}, {'connected_gene': 'GC10M092666', 'score': 0.77}, {'connected_gene': 'ENSG00000201412', 'score': 0.39}, {'connected_gene': 'GC10M092712', 'score': 0.39}]
chr10	GH10I093389	93389339	93393793	0.2	[{'connected_gene': 'MYOF', 'score': 12.67}, {'connected_gene': 'HHEX', 'score': 5.02}, {'connected_gene': 'GC10P093383', 'score': 0.44}, {'connected_gene': 'GC10M093427', 'score': 0.28}]
chr10	GH10I093386	93386124	93387997	1.23	[{'connected_gene': 'MYOF', 'score': 14.3}, {'connected_gene': 'HHEX', 'score': 4.61}, {'connected_gene': 'GC10P093383', 'score': 0.77}, {'connected_gene': 'GC10M093427', 'score': 0.28}]
chr10	GH10I093375	93375530	93378468	1.48	[{'connected_gene': 'MYOF', 'score': 15.27}, {'connected_gene': 'CYP26A1', 'score': 10.4}, {'connected_gene': 'HHEX', 'score': 4.69}, {'connected_gene': 'GC10P093383', 'score': 0.44}, {'connected_gene': 'RPL17P34', 'score': 0.16}]