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
ENST00000484110	[[48756521, 48756726], [48757018, 48759056]]	None
ENST00000404752	[[48757309, 48757355], [48807725, 48809702], [48818791, 48818994], [48822366, 48825651]]	[[48807772, 48809702], [48818791, 48818994], [48822366, 48822441]]
ENST00000406226	[[48757324, 48757355], [48757851, 48757968], [48807725, 48809702], [48818791, 48818994], [48822366, 48825652]]	[[48807772, 48809702], [48818791, 48818994], [48822366, 48822441]]
ENST00000309835	[[48807762, 48809702], [48818791, 48818994], [48822366, 48826025]]	[[48807772, 48809702], [48818791, 48818994], [48822366, 48822441]]
ENST00000444932	[[48809434, 48809702], [48818883, 48818994], [48822366, 48822993]]	[[48809434, 48809702], [48818883, 48818897]]
NM_006873	[[48757307, 48757355], [48807725, 48809702], [48818791, 48818994], [48822366, 48825654]]	[[48807772, 48809702], [48818791, 48818994], [48822366, 48822441]]
NM_001198595	[[48757307, 48757355], [48757851, 48757968], [48807725, 48809702], [48818791, 48818994], [48822366, 48825654]]	[[48807772, 48809702], [48818791, 48818994], [48822366, 48822441]]

Promoter

Chrom	Start	End	Description
chr2	48756510	48756530	CAGE_peak_6_at_STON1_5end
chr2	48757278	48757337	CAGE_peak_1_at_STON1_5end
chr2	48757351	48757364	CAGE_peak_2_at_STON1_5end
chr2	48807942	48807963	CAGE_peak_4_at_STON1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I048713	48713485	48716524	1.01	[{'connected_gene': 'LHCGR', 'score': 9.67}, {'connected_gene': 'STON1-GTF2A1L', 'score': 8.24}, {'connected_gene': 'STON1', 'score': 2.06}, {'connected_gene': 'ENSG00000279956', 'score': 0.26}, {'connected_gene': 'GC02P048647', 'score': 0.2}, {'connected_gene': 'GTF2A1L', 'score': 0.15}]
chr2	GH02I048568	48568939	48568998	0.5	[{'connected_gene': 'STON1-GTF2A1L', 'score': 561.76}, {'connected_gene': 'STON1', 'score': 11.76}, {'connected_gene': 'GC02M048558', 'score': 0.44}, {'connected_gene': 'GTF2A1L', 'score': 0.25}]
chr2	GH02I048572	48572707	48573317	0.75	[{'connected_gene': 'STON1-GTF2A1L', 'score': 26.02}, {'connected_gene': 'GTF2A1L', 'score': 17.5}, {'connected_gene': 'STON1', 'score': 11.17}, {'connected_gene': 'RNU6-282P', 'score': 10.25}, {'connected_gene': 'PPP1R21', 'score': 10.18}, {'connected_gene': 'GC02M048558', 'score': 0.44}]
chr2	GH02I048584	48584662	48586684	0.59	[{'connected_gene': 'STON1-GTF2A1L', 'score': 26.24}, {'connected_gene': 'GTF2A1L', 'score': 18.13}, {'connected_gene': 'STON1', 'score': 11.0}, {'connected_gene': 'RNU6-282P', 'score': 10.29}, {'connected_gene': 'PPP1R21', 'score': 10.22}, {'connected_gene': 'GC02M048558', 'score': 0.34}]
chr2	GH02I048580	48580583	48580642	0.5	[{'connected_gene': 'STON1-GTF2A1L', 'score': 550.23}, {'connected_gene': 'RNU6-282P', 'score': 10.3}, {'connected_gene': 'PPP1R21', 'score': 10.23}, {'connected_gene': 'GC02M048558', 'score': 0.37}, {'connected_gene': 'GTF2A1L', 'score': 0.28}, {'connected_gene': 'STON1', 'score': 0.23}]
chr2	GH02I048105	48105785	48108527	1.18	[{'connected_gene': 'STON1-GTF2A1L', 'score': 12.53}, {'connected_gene': 'LOC100506235', 'score': 12.22}, {'connected_gene': 'FBXO11', 'score': 12.22}, {'connected_gene': 'STON1', 'score': 11.84}, {'connected_gene': 'GTF2A1L', 'score': 11.51}, {'connected_gene': 'FOXN2', 'score': 11.47}, {'connected_gene': 'MSH6', 'score': 11.18}, {'connected_gene': 'PPP1R21', 'score': 11.1}, {'connected_gene': 'RNU6-282P', 'score': 9.44}, {'connected_gene': 'GC02P048073', 'score': 0.29}, {'connected_gene': 'GC02P048218', 'score': 0.14}, {'connected_gene': 'ENSG00000230773', 'score': 0.12}]
chr2	GH02I048324	48324122	48327684	0.43	[{'connected_gene': 'PPP1R21', 'score': 21.48}, {'connected_gene': 'FOXN2', 'score': 6.25}, {'connected_gene': 'GTF2A1L', 'score': 4.8}, {'connected_gene': 'STON1', 'score': 4.18}, {'connected_gene': 'GC02P048318', 'score': 0.44}, {'connected_gene': 'RNU4-49P', 'score': 0.39}, {'connected_gene': 'GC02M048341', 'score': 0.39}]
chr2	GH02I048478	48478901	48481487	0.52	[{'connected_gene': 'PPP1R21', 'score': 47.45}, {'connected_gene': 'FOXN2', 'score': 34.57}, {'connected_gene': 'RNU6-282P', 'score': 12.42}, {'connected_gene': 'STON1', 'score': 10.52}, {'connected_gene': 'STON1-GTF2A1L', 'score': 10.52}, {'connected_gene': 'GC02M048502', 'score': 0.34}, {'connected_gene': 'GC02M048450', 'score': 0.34}]
chr2	GH02I048469	48469645	48471923	0.92	[{'connected_gene': 'PPP1R21', 'score': 17.91}, {'connected_gene': 'FOXN2', 'score': 16.05}, {'connected_gene': 'RNU6-282P', 'score': 12.14}, {'connected_gene': 'STON1', 'score': 10.91}, {'connected_gene': 'STON1-GTF2A1L', 'score': 10.91}, {'connected_gene': 'GC02M048450', 'score': 0.39}, {'connected_gene': 'GC02M048502', 'score': 0.29}]
chr2	GH02I048507	48507808	48511096	1.64	[{'connected_gene': 'PPP1R21', 'score': 33.57}, {'connected_gene': 'STON1-GTF2A1L', 'score': 21.3}, {'connected_gene': 'MSH6', 'score': 13.44}, {'connected_gene': 'STON1', 'score': 12.23}, {'connected_gene': 'GC02M048502', 'score': 0.44}, {'connected_gene': 'RNU6-282P', 'score': 0.44}]
chr2	GH02I048543	48543634	48549989	0.72	[{'connected_gene': 'PPP1R21', 'score': 38.41}, {'connected_gene': 'STON1-GTF2A1L', 'score': 15.64}, {'connected_gene': 'RNU6-282P', 'score': 11.2}, {'connected_gene': 'GTF2A1L', 'score': 11.02}, {'connected_gene': 'STON1', 'score': 8.91}, {'connected_gene': 'GC02P048542', 'score': 0.44}, {'connected_gene': 'GC02M048558', 'score': 0.37}]
chr2	GH02I048519	48519162	48520009	0.51	[{'connected_gene': 'PPP1R21', 'score': 34.86}, {'connected_gene': 'STON1', 'score': 6.67}, {'connected_gene': 'GTF2A1L', 'score': 4.34}, {'connected_gene': 'GC02M048502', 'score': 0.37}, {'connected_gene': 'RNU6-282P', 'score': 0.37}]
chr2	GH02I048525	48525801	48526000	0.2	[{'connected_gene': 'PPP1R21', 'score': 5.59}, {'connected_gene': 'STON1', 'score': 0.77}, {'connected_gene': 'GC02M048502', 'score': 0.34}, {'connected_gene': 'RNU6-282P', 'score': 0.34}]
chr2	GH02I048474	48474079	48475397	0.43	[{'connected_gene': 'PPP1R21', 'score': 35.71}, {'connected_gene': 'RNU6-282P', 'score': 12.16}, {'connected_gene': 'STON1', 'score': 10.67}, {'connected_gene': 'STON1-GTF2A1L', 'score': 10.66}, {'connected_gene': 'GC02M048450', 'score': 0.37}, {'connected_gene': 'GC02M048502', 'score': 0.31}]
chr2	GH02I048515	48515536	48516084	0.4	[{'connected_gene': 'PPP1R21', 'score': 5.85}, {'connected_gene': 'GC02M048502', 'score': 0.39}, {'connected_gene': 'RNU6-282P', 'score': 0.39}, {'connected_gene': 'STON1', 'score': 0.39}]
chr2	GH02I048529	48529034	48532186	2.03	[{'connected_gene': 'STON1', 'score': 555.2}, {'connected_gene': 'STON1-GTF2A1L', 'score': 550.77}, {'connected_gene': 'PPP1R21', 'score': 32.08}, {'connected_gene': 'FOXN2', 'score': 6.1}, {'connected_gene': 'GTF2A1L', 'score': 4.62}, {'connected_gene': 'GC02P048542', 'score': 0.39}]
chr2	GH02I048566	48566702	48566851	0.38	[{'connected_gene': 'STON1', 'score': 11.76}, {'connected_gene': 'STON1-GTF2A1L', 'score': 11.76}, {'connected_gene': 'GC02M048558', 'score': 0.77}, {'connected_gene': 'GTF2A1L', 'score': 0.23}]
chr2	GH02I048527	48527177	48528577	0.51	[{'connected_gene': 'STON1', 'score': 557.3}, {'connected_gene': 'GTF2A1L', 'score': 14.54}, {'connected_gene': 'PPP1R21', 'score': 5.23}, {'connected_gene': 'GC02M048502', 'score': 0.31}, {'connected_gene': 'RNU6-282P', 'score': 0.31}]
chr2	GH02I048589	48589201	48589400	0.56	[{'connected_gene': 'GTF2A1L', 'score': 0.31}, {'connected_gene': 'GC02M048558', 'score': 0.31}, {'connected_gene': 'STON1', 'score': 0.22}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.22}]
chr2	GH02I048587	48587602	48587751	0.2	[{'connected_gene': 'RNU6-282P', 'score': 10.55}, {'connected_gene': 'PPP1R21', 'score': 10.49}, {'connected_gene': 'GC02M048558', 'score': 0.34}, {'connected_gene': 'GTF2A1L', 'score': 0.29}, {'connected_gene': 'STON1', 'score': 0.22}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.22}]
chr2	GH02I047654	47654863	47655741	0.77	[{'connected_gene': 'ENSG00000228925', 'score': 13.91}, {'connected_gene': 'MSH6', 'score': 13.68}, {'connected_gene': 'SOCS5', 'score': 12.24}, {'connected_gene': 'STON1', 'score': 11.7}, {'connected_gene': 'KCNK12', 'score': 8.73}, {'connected_gene': 'HCG2040054', 'score': 5.67}, {'connected_gene': 'GC02P047676', 'score': 0.34}]
chr2	GH02I048539	48539934	48540550	0.2	[{'connected_gene': 'GC02P048542', 'score': 550.77}, {'connected_gene': 'RNU6-282P', 'score': 11.06}, {'connected_gene': 'PPP1R21', 'score': 10.94}, {'connected_gene': 'GTF2A1L', 'score': 4.45}, {'connected_gene': 'STON1', 'score': 0.39}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.39}]
chr2	GH02I048447	48447987	48452391	1.32	[{'connected_gene': 'PIR50991', 'score': 550.77}, {'connected_gene': 'GC02M048449', 'score': 550.77}, {'connected_gene': 'RNU6-282P', 'score': 11.08}, {'connected_gene': 'STON1', 'score': 10.37}, {'connected_gene': 'STON1-GTF2A1L', 'score': 10.37}, {'connected_gene': 'LOC100506235', 'score': 9.59}, {'connected_gene': 'FBXO11', 'score': 9.59}, {'connected_gene': 'PPP1R21', 'score': 8.19}, {'connected_gene': 'GC02M048450', 'score': 0.44}, {'connected_gene': 'GC02P048370', 'score': 0.18}]
chr2	GH02I048514	48514446	48514918	0.4	[{'connected_gene': 'GC02M048502', 'score': 0.39}, {'connected_gene': 'RNU6-282P', 'score': 0.39}, {'connected_gene': 'STON1', 'score': 0.39}, {'connected_gene': 'PPP1R21', 'score': 0.19}]