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
ENST00000538155	[[27058113, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27068934, 27069113], [27070284, 27070374], [27070576, 27070667]]	[[27058429, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27068934, 27069113], [27070284, 27070374], [27070576, 27070667]]
ENST00000261191	[[27058113, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089747], [27090728, 27091254]]	[[27058429, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089736]]
ENST00000538016	[[27058117, 27058469], [27059234, 27059417]]	None
ENST00000539625	[[27058117, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27090728, 27090905]]	[[27058429, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081835]]
ENST00000542392	[[27066952, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27071973, 27072002]]	[[27066952, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27071973, 27072002]]
ENST00000536232	[[27066978, 27067061], [27067340, 27067465], [27070284, 27070374], [27075548, 27075633], [27077287, 27077364]]	[[27066978, 27067061], [27067340, 27067465], [27070284, 27070374], [27075548, 27075633], [27077287, 27077364]]
ENST00000538727	[[27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27090728, 27090905]]	[[27078693, 27078784], [27081137, 27081218], [27081635, 27081835]]
ENST00000544548	[[27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089747], [27090590, 27090742], [27091200, 27091237]]	[[27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089736]]
ENST00000538748	[[27081186, 27081218], [27081635, 27081989]]	None
ENST00000537336	[[27081648, 27081838], [27087488, 27087563], [27089511, 27089747], [27091200, 27091259]]	[[27081648, 27081838], [27087488, 27087563], [27089511, 27089736]]
NM_018164	[[27058111, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089747], [27090728, 27091254]]	[[27058429, 27058469], [27059234, 27059370], [27064110, 27064250], [27066389, 27066620], [27066906, 27067061], [27067340, 27067511], [27068934, 27069113], [27070284, 27070374], [27070576, 27070666], [27075548, 27075633], [27077287, 27077416], [27078693, 27078784], [27081137, 27081218], [27081635, 27081838], [27087488, 27087563], [27089511, 27089736]]

Promoter

Chrom	Start	End	Description
chr12	27090870	27090894	CAGE_peak_3_at_ASUN_5end
chr12	27090896	27090966	CAGE_peak_1_at_ASUN_5end
chr12	27091183	27091271	CAGE_peak_2_at_ASUN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I026935	26935129	26943460	2.25	[{'connected_gene': 'FGFR1OP2', 'score': 550.77}, {'connected_gene': 'INTS13', 'score': 550.77}, {'connected_gene': 'ENSG00000247903', 'score': 16.5}, {'connected_gene': 'TM7SF3', 'score': 11.8}, {'connected_gene': 'MED21', 'score': 7.32}, {'connected_gene': 'ITPR2', 'score': 6.13}, {'connected_gene': 'PIR61598', 'score': 0.29}]
chr12	GH12I026921	26918804	26918937	0.43	[{'connected_gene': 'ENSG00000247903', 'score': 10.91}, {'connected_gene': 'GC12M026907', 'score': 0.77}, {'connected_gene': 'INTS13', 'score': 0.37}]
chr12	GH12I026920	26919308	26919457	0.2	[{'connected_gene': 'ENSG00000247903', 'score': 10.91}, {'connected_gene': 'GC12M026907', 'score': 0.77}, {'connected_gene': 'INTS13', 'score': 0.37}]
chr12	GH12I026918	26918468	26918557	0.49	[{'connected_gene': 'ENSG00000247903', 'score': 10.03}, {'connected_gene': 'GC12M026907', 'score': 0.77}, {'connected_gene': 'INTS13', 'score': 0.37}]
chr12	GH12I026919	26919588	26919690	0.2	[{'connected_gene': 'ENSG00000247903', 'score': 10.91}, {'connected_gene': 'GC12M026907', 'score': 0.77}, {'connected_gene': 'INTS13', 'score': 0.37}]
chr12	GH12I026922	26918944	26919258	0.43	[{'connected_gene': 'ENSG00000247903', 'score': 10.91}, {'connected_gene': 'GC12M026907', 'score': 0.77}, {'connected_gene': 'INTS13', 'score': 0.37}]
chr12	GH12I026906	26906573	26907760	0.31	[{'connected_gene': 'ENSG00000247903', 'score': 11.62}, {'connected_gene': 'TM7SF3', 'score': 10.85}, {'connected_gene': 'GC12M026907', 'score': 0.44}, {'connected_gene': 'INTS13', 'score': 0.29}, {'connected_gene': 'ITPR2', 'score': 0.19}]
chr12	GH12I026931	26931899	26934709	0.43	[{'connected_gene': 'ENSG00000247903', 'score': 11.94}, {'connected_gene': 'TM7SF3', 'score': 11.79}, {'connected_gene': 'INTS13', 'score': 0.44}, {'connected_gene': 'GC12M026907', 'score': 0.37}]