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
ENST00000360906	[[32449521, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32490655, 32490801]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
ENST00000402280	[[32449522, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32489806, 32489949]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
ENST00000342905	[[32449523, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32477487, 32477748], [32481843, 32481962], [32490655, 32490801]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32477487, 32477748], [32481843, 32481844]]
ENST00000404025	[[32449524, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32489806, 32489909], [32490655, 32490923]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
NM_001199138	[[32449517, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32489806, 32489949]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
NM_001199139	[[32449517, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32490663, 32490689]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
NM_021209	[[32449517, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481962], [32490655, 32490812]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32474675, 32476670], [32477487, 32477748], [32481843, 32481844]]
NM_001302504	[[32449517, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32477487, 32477748], [32481843, 32481962], [32490655, 32490812]]	[[32449541, 32449834], [32460469, 32460637], [32461315, 32461408], [32463200, 32463371], [32466101, 32466194], [32477487, 32477748], [32481843, 32481844]]

Promoter

Chrom	Start	End	Description
chr2	32489922	32489962	CAGE_peak_1_at_NLRC4_5end
chr2	32490713	32490729	CAGE_peak_5_at_NLRC4_5end
chr2	32490833	32490846	CAGE_peak_3_at_NLRC4_5end
chr2	32490859	32490889	CAGE_peak_2_at_NLRC4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I032038	32038743	32040924	2.03	[{'connected_gene': 'DPY30', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 32.11}, {'connected_gene': 'BIRC6', 'score': 12.53}, {'connected_gene': 'TTC27', 'score': 10.0}, {'connected_gene': 'NLRC4', 'score': 5.46}, {'connected_gene': 'ENSG00000271228', 'score': 0.31}]
chr2	GH02I032277	32277072	32279201	2.03	[{'connected_gene': 'YIPF4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 21.45}, {'connected_gene': 'BIRC6', 'score': 19.96}, {'connected_gene': 'TTC27', 'score': 15.14}, {'connected_gene': 'DDX50P1', 'score': 14.91}, {'connected_gene': 'RNU6-647P', 'score': 10.56}, {'connected_gene': 'NLRC4', 'score': 4.71}, {'connected_gene': 'ENSG00000272754', 'score': 0.26}]
chr2	GH02I032266	32266401	32266600	0.2	[{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'YIPF4', 'score': 0.39}]
chr2	GH02I032261	32261601	32266210	1.59	[{'connected_gene': 'NLRC4', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 20.97}, {'connected_gene': 'BIRC6', 'score': 16.91}, {'connected_gene': 'DDX50P1', 'score': 12.8}, {'connected_gene': 'TTC27', 'score': 11.55}, {'connected_gene': 'GC02M032177', 'score': 0.26}]
chr2	GH02I033059	33059202	33060774	0.89	[{'connected_gene': 'NLRC4', 'score': 5.83}, {'connected_gene': 'ENSG00000223951', 'score': 0.77}, {'connected_gene': 'GC02M033047', 'score': 0.39}, {'connected_gene': 'LTBP1', 'score': 0.14}]
chr2	GH02I033084	33084215	33085502	0.49	[{'connected_gene': 'NLRC4', 'score': 4.83}, {'connected_gene': 'GC02M033047', 'score': 0.39}, {'connected_gene': 'TYW1P1', 'score': 0.29}, {'connected_gene': 'LTBP1', 'score': 0.12}]
chr2	GH02I033088	33086714	33086883	0.63	[{'connected_gene': 'NLRC4', 'score': 4.87}, {'connected_gene': 'GC02M033047', 'score': 0.37}, {'connected_gene': 'TYW1P1', 'score': 0.29}, {'connected_gene': 'LTBP1', 'score': 0.12}]
chr2	GH02I032288	32288202	32290600	1.07	[{'connected_gene': 'BIRC6', 'score': 29.2}, {'connected_gene': 'NLRC4', 'score': 16.74}, {'connected_gene': 'DDX50P1', 'score': 16.55}, {'connected_gene': 'TTC27', 'score': 15.83}, {'connected_gene': 'SLC30A6', 'score': 11.91}, {'connected_gene': 'YIPF4', 'score': 11.18}, {'connected_gene': 'RNU6-647P', 'score': 10.87}, {'connected_gene': 'MIR558', 'score': 9.72}, {'connected_gene': 'ENSG00000272754', 'score': 0.29}]
chr2	GH02I031812	31811375	31813415	1.16	[{'connected_gene': 'SLC30A6', 'score': 5.87}, {'connected_gene': 'NLRC4', 'score': 5.55}, {'connected_gene': 'XDH', 'score': 4.42}, {'connected_gene': 'LINC01946', 'score': 0.44}, {'connected_gene': 'KRT18P52', 'score': 0.39}]
chr2	GH02I032164	32164460	32168155	2.11	[{'connected_gene': 'SLC30A6', 'score': 607.83}, {'connected_gene': 'ENSG00000272716', 'score': 559.1}, {'connected_gene': 'GC02M032166', 'score': 550.77}, {'connected_gene': 'BIRC6', 'score': 47.0}, {'connected_gene': 'DDX50P1', 'score': 32.71}, {'connected_gene': 'TTC27', 'score': 31.23}, {'connected_gene': 'RNU6-647P', 'score': 10.51}, {'connected_gene': 'NLRC4', 'score': 5.52}, {'connected_gene': 'GC02P032156', 'score': 0.39}]
chr2	GH02I032234	32234519	32236248	0.43	[{'connected_gene': 'RNU6-647P', 'score': 12.19}, {'connected_gene': 'NLRC4', 'score': 11.58}, {'connected_gene': 'SLC30A6', 'score': 9.55}, {'connected_gene': 'GC02M032177', 'score': 0.39}]
chr2	GH02I031405	31405762	31408040	0.62	[{'connected_gene': 'GC02M031395', 'score': 550.77}, {'connected_gene': 'XDH', 'score': 8.06}, {'connected_gene': 'NLRC4', 'score': 4.13}]
chr2	GH02I033068	33068374	33074032	1.48	[{'connected_gene': 'GC02M033047', 'score': 550.77}, {'connected_gene': 'NLRC4', 'score': 4.75}, {'connected_gene': 'TYW1P1', 'score': 0.25}, {'connected_gene': 'LTBP1', 'score': 0.13}]
chr2	GH02I033020	33020697	33025188	1.07	[{'connected_gene': 'ENSG00000206951', 'score': 11.77}, {'connected_gene': 'LTBP1', 'score': 11.77}, {'connected_gene': 'NLRC4', 'score': 5.69}, {'connected_gene': 'ENSG00000223951', 'score': 0.26}]