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
ENST00000345662	[[32288679, 32289315], [32312560, 32312647], [32314590, 32314674], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32382705]]	[[32288900, 32289315], [32312560, 32312647], [32314590, 32314674], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32379565]]
ENST00000315285	[[32288775, 32289315], [32312560, 32312647], [32314590, 32314674], [32323864, 32323960], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32382706]]	[[32288900, 32289315], [32312560, 32312647], [32314590, 32314674], [32323864, 32323960], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32379565]]
NM_199436	[[32288679, 32289315], [32312560, 32312647], [32314590, 32314674], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32382706]]	[[32288900, 32289315], [32312560, 32312647], [32314590, 32314674], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32379565]]
NM_014946	[[32288679, 32289315], [32312560, 32312647], [32314590, 32314674], [32323864, 32323960], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32382706]]	[[32288900, 32289315], [32312560, 32312647], [32314590, 32314674], [32323864, 32323960], [32339706, 32339894], [32340770, 32340904], [32341187, 32341281], [32352016, 32352091], [32353476, 32353548], [32361631, 32361707], [32361945, 32362037], [32362177, 32362257], [32366972, 32367015], [32368404, 32368484], [32370005, 32370076], [32372286, 32372327], [32379442, 32379565]]

Promoter

Chrom	Start	End	Description
chr2	32288593	32288654	CAGE_peak_1_at_SPAST_5end
chr2	32288657	32288688	CAGE_peak_3_at_SPAST_5end
chr2	32288725	32288774	CAGE_peak_2_at_SPAST_5end
chr2	32288789	32288801	CAGE_peak_4_at_SPAST_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I032072	32072795	32075214	0.54	[{'connected_gene': 'DPY30', 'score': 12.0}, {'connected_gene': 'MEMO1', 'score': 10.93}, {'connected_gene': 'SLC30A6', 'score': 10.09}, {'connected_gene': 'ENSG00000272716', 'score': 6.29}, {'connected_gene': 'XDH', 'score': 4.4}, {'connected_gene': 'SPAST', 'score': 0.39}, {'connected_gene': 'GC02M032061', 'score': 0.26}]
chr2	GH02I032061	32061987	32065186	2.08	[{'connected_gene': 'SPAST', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 9.55}, {'connected_gene': 'ENSG00000272716', 'score': 6.31}, {'connected_gene': 'GC02M032061', 'score': 0.23}]
chr2	GH02I032068	32068852	32070000	0.94	[{'connected_gene': 'SLC30A6', 'score': 9.64}, {'connected_gene': 'XDH', 'score': 4.45}, {'connected_gene': 'SPAST', 'score': 0.44}, {'connected_gene': 'GC02M032061', 'score': 0.25}]
chr2	GH02I032135	32135012	32136694	0.88	[{'connected_gene': 'SLC30A6', 'score': 18.96}, {'connected_gene': 'RNU6-647P', 'score': 10.71}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'GC02M032061', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.19}]
chr2	GH02I032133	32133200	32133401	0.38	[{'connected_gene': 'SLC30A6', 'score': 11.72}, {'connected_gene': 'RNU6-647P', 'score': 10.7}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02M032061', 'score': 0.37}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.2}]