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
ENST00000380376	[[19408924, 19409190], [19423859, 19423974], [19424697, 19424839], [19434944, 19435082], [19446181, 19446248]]	[[19423898, 19423974], [19424697, 19424839], [19434944, 19435082], [19446181, 19446248]]
ENST00000340967	[[19409056, 19409190], [19423859, 19423974], [19424697, 19424839], [19434944, 19435082], [19446278, 19446416], [19450447, 19452018]]	[[19409082, 19409190], [19423859, 19423974], [19424697, 19424839], [19434944, 19435082], [19446278, 19446416], [19450447, 19450634]]
NM_001010887	[[19408924, 19409190], [19423859, 19423974], [19424697, 19424839], [19434944, 19435082], [19446278, 19446416], [19450447, 19452500]]	[[19409082, 19409190], [19423859, 19423974], [19424697, 19424839], [19434944, 19435082], [19446278, 19446416], [19450447, 19450634]]

Promoter

Chrom	Start	End	Description
chr9	19408919	19408931	CAGE_peak_4_at_ACER2_5end
chr9	19408999	19409016	CAGE_peak_1_at_ACER2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I019441	19441167	19442406	0.66	[{'connected_gene': 'RPS6', 'score': 18.51}, {'connected_gene': 'NDUFA5P3', 'score': 11.64}, {'connected_gene': 'HAUS6', 'score': 10.14}, {'connected_gene': 'ENSG00000260912', 'score': 0.39}, {'connected_gene': 'PIR51132', 'score': 0.31}, {'connected_gene': 'ACER2', 'score': 0.28}]
chr9	GH09I019445	19445063	19447280	0.43	[{'connected_gene': 'HAUS6', 'score': 10.88}, {'connected_gene': 'RPS6', 'score': 6.32}, {'connected_gene': 'RRAGA', 'score': 5.1}, {'connected_gene': 'ENSG00000260912', 'score': 0.44}, {'connected_gene': 'PIR51132', 'score': 0.31}, {'connected_gene': 'ACER2', 'score': 0.26}]
chr9	GH09I019431	19431071	19432514	0.49	[{'connected_gene': 'HAUS6', 'score': 9.67}, {'connected_gene': 'ENSG00000273226', 'score': 5.46}, {'connected_gene': 'PIR51132', 'score': 0.37}, {'connected_gene': 'ENSG00000260912', 'score': 0.34}, {'connected_gene': 'ACER2', 'score': 0.31}]
chr9	GH09I019407	19407698	19410503	1.99	[{'connected_gene': 'ACER2', 'score': 550.77}, {'connected_gene': 'ENSG00000273226', 'score': 5.75}, {'connected_gene': 'PIR51132', 'score': 0.44}]
chr9	GH09I019403	19403316	19406106	0.64	[{'connected_gene': 'ACER2', 'score': 550.77}, {'connected_gene': 'GC09P019404', 'score': 550.77}, {'connected_gene': 'ENSG00000273226', 'score': 7.85}]
chr9	GH09I019411	19411483	19411509	0.68	[{'connected_gene': 'ACER2', 'score': 0.44}, {'connected_gene': 'PIR51132', 'score': 0.44}]
chr9	GH09I019633	19633872	19634264	0.26	[{'connected_gene': 'SLC24A2', 'score': 4.52}, {'connected_gene': 'ACER2', 'score': 1.21}, {'connected_gene': 'GC09P019599', 'score': 0.28}, {'connected_gene': 'C11orf98P1', 'score': 0.19}]
chr9	GH09I019557	19557642	19557721	0.39	[{'connected_gene': 'SLC24A2', 'score': 1.58}, {'connected_gene': 'ACER2', 'score': 1.49}, {'connected_gene': 'GC09P019599', 'score': 0.26}, {'connected_gene': 'LOC105375988', 'score': 0.17}]
chr9	GH09I019589	19589854	19589877	0.42	[{'connected_gene': 'SLC24A2', 'score': 12.34}, {'connected_gene': 'ACER2', 'score': 1.95}, {'connected_gene': 'GC09P019599', 'score': 0.44}, {'connected_gene': 'LOC105375988', 'score': 0.13}]
chr9	GH09I019123	19123956	19130858	2.45	[{'connected_gene': 'PLIN2', 'score': 569.26}, {'connected_gene': 'HAUS6', 'score': 19.66}, {'connected_gene': 'ACER2', 'score': 3.26}, {'connected_gene': 'GC09M019109', 'score': 0.34}]
chr9	GH09I019158	19158835	19164429	1.72	[{'connected_gene': 'PLIN2', 'score': 5.6}, {'connected_gene': 'ACER2', 'score': 2.78}, {'connected_gene': 'RPS6P10', 'score': 0.28}]
chr9	GH09I019451	19451247	19452202	0.7	[{'connected_gene': 'ENSG00000260912', 'score': 550.77}, {'connected_gene': 'HAUS6', 'score': 10.88}, {'connected_gene': 'ACER2', 'score': 5.7}, {'connected_gene': 'PIR51132', 'score': 0.29}]
chr9	GH09I019424	19424057	19424790	0.51	[{'connected_gene': 'ENSG00000272842', 'score': 5.37}, {'connected_gene': 'PIR51132', 'score': 0.44}, {'connected_gene': 'ACER2', 'score': 0.37}, {'connected_gene': 'ENSG00000260912', 'score': 0.31}]