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
ENST00000322937	[[71457972, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467134, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71473005]]	[[71458075, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467134, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71472447]]
ENST00000449493	[[71458011, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467179, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71472596]]	[[71458075, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467179, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71472447]]
NM_016519	[[71457974, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467134, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71473005]]	[[71458075, 71458090], [71459043, 71459112], [71462715, 71462766], [71464072, 71464120], [71465252, 71465363], [71467134, 71467371], [71468340, 71468379], [71468514, 71468553], [71468688, 71468727], [71468976, 71469036], [71469132, 71469177], [71469593, 71469638], [71471901, 71472447]]

Promoter

Chrom	Start	End	Description
chr4	71457970	71457974	CAGE_peak_1_at_AMBN_5end
chr4	71458016	71458019	CAGE_peak_3_at_AMBN_5end
chr4	71458027	71458056	CAGE_peak_2_at_AMBN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I070518	70518520	70518579	0.5	[{'connected_gene': 'AMTN', 'score': 550.77}, {'connected_gene': 'AMBN', 'score': 0.19}]
chr4	GH04I070522	70522664	70522813	0.46	[{'connected_gene': 'AMTN', 'score': 23.12}, {'connected_gene': 'AMBN', 'score': 0.2}]
chr4	GH04I070613	70613601	70614200	0.59	[{'connected_gene': 'JCHAIN', 'score': 10.42}, {'connected_gene': 'UTP3', 'score': 10.29}, {'connected_gene': 'ENAM', 'score': 0.39}, {'connected_gene': 'AMBN', 'score': 0.34}]
chr4	GH04I070592	70592207	70592266	0.79	[{'connected_gene': 'AMBN', 'score': 550.77}, {'connected_gene': 'AMTN', 'score': 0.19}]
chr4	GH04I070584	70584684	70584793	0.78	[{'connected_gene': 'AMBN', 'score': 0.44}, {'connected_gene': 'AMTN', 'score': 0.2}]
chr4	GH04I070558	70558401	70558600	0.38	[{'connected_gene': 'AMBN', 'score': 0.29}, {'connected_gene': 'AMTN', 'score': 0.28}]
chr4	GH04I070601	70601544	70601693	0.66	[{'connected_gene': 'AMBN', 'score': 0.44}, {'connected_gene': 'ENAM', 'score': 0.31}]
chr4	GH04I070628	70628682	70628741	0.5	[{'connected_gene': 'ENAM', 'score': 550.77}, {'connected_gene': 'AMBN', 'score': 0.28}]