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
ENST00000569576	[[31494322, 31494389], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497597]]	[[31495996, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497597]]
ENST00000419665	[[31494438, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31500443, 31500659], [31501424, 31501551], [31501629, 31501990]]	[[31494457, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31500443, 31500659], [31501424, 31501456]]
ENST00000330498	[[31494438, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31499942, 31500093], [31500200, 31500369], [31500443, 31500659], [31501424, 31501551], [31501629, 31502089]]	[[31494457, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31499942, 31500093], [31500200, 31500369], [31500443, 31500659], [31501424, 31501551], [31501629, 31501856]]
ENST00000562006	[[31494458, 31494583], [31495993, 31496065], [31496139, 31496937]]	None
ENST00000565446	[[31496067, 31496244], [31497049, 31497214], [31497490, 31497597]]	None
ENST00000568188	[[31499340, 31499494], [31499703, 31500369], [31500443, 31502090]]	None
ENST00000568891	[[31499530, 31499811], [31500443, 31500659], [31501424, 31501551], [31501629, 31501665]]	None
ENST00000567051	[[31500809, 31500995], [31502018, 31502166]]	None
ENST00000564197	[[31500809, 31501025], [31501899, 31502181]]	None
NR_130783	[[31494438, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31500443, 31500659], [31501424, 31501551], [31501629, 31502091]]	None
NM_003041	[[31494438, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31499942, 31500093], [31500200, 31500369], [31500443, 31500659], [31501424, 31501551], [31501629, 31502091]]	[[31494457, 31494583], [31495993, 31496065], [31496139, 31496244], [31497049, 31497214], [31497490, 31497596], [31498640, 31498721], [31498850, 31499080], [31499358, 31499494], [31499703, 31499811], [31499942, 31500093], [31500200, 31500369], [31500443, 31500659], [31501424, 31501551], [31501629, 31501856]]

Promoter

Chrom	Start	End	Description
chr16	31494441	31494445	CAGE_peak_1_at_SLC5A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I031470	31470569	31475333	1.9	[{'connected_gene': 'TGFB1I1', 'score': 550.77}, {'connected_gene': 'ENSG00000280132', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 18.9}, {'connected_gene': 'HERC2P4', 'score': 4.02}, {'connected_gene': 'SLC5A2', 'score': 0.44}]
chr16	GH16I031480	31480549	31481700	0.67	[{'connected_gene': 'SLC5A2', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 22.91}, {'connected_gene': 'ENSG00000280132', 'score': 0.44}]
chr16	GH16I031479	31479449	31480273	0.2	[{'connected_gene': 'SLC5A2', 'score': 0.77}, {'connected_gene': 'ENSG00000280132', 'score': 0.44}]
chr16	GH16I031483	31483074	31483133	0.5	[{'connected_gene': 'SLC5A2', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 0.44}]
chr16	GH16I031475	31475865	31478609	1.17	[{'connected_gene': 'ENSG00000260740', 'score': 22.85}, {'connected_gene': 'SLC5A2', 'score': 0.44}, {'connected_gene': 'TGFB1I1', 'score': 0.44}, {'connected_gene': 'ENSG00000280132', 'score': 0.44}]
chr16	GH16I031487	31487036	31488569	1.04	[{'connected_gene': 'ENSG00000260740', 'score': 564.29}, {'connected_gene': 'SLC5A2', 'score': 0.44}]
chr16	GH16I031486	31486220	31486369	0.31	[{'connected_gene': 'ENSG00000260740', 'score': 0.77}, {'connected_gene': 'SLC5A2', 'score': 0.77}]
chr16	GH16I031484	31483950	31485672	1.04	[{'connected_gene': 'ENSG00000260740', 'score': 23.35}, {'connected_gene': 'ZNF843', 'score': 6.31}, {'connected_gene': 'ITGAD', 'score': 4.21}, {'connected_gene': 'SLC5A2', 'score': 0.77}]