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
ENST00000339012	[[55746739, 55747052], [55747540, 55747615], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772215]]	[[55746937, 55747052], [55747540, 55747615], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772144]]
ENST00000406691	[[55746781, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55765900, 55766679]]	[[55746937, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55765900, 55765917]]
ENST00000349456	[[55746789, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55773015]]	[[55746937, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772144]]
ENST00000407816	[[55746825, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771160, 55771210], [55771355, 55771505], [55772042, 55772215]]	[[55746937, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771160, 55771210], [55771355, 55771505], [55772042, 55772144]]
ENST00000403007	[[55746866, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55763047]]	[[55746937, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55763034]]
ENST00000490934	[[55758146, 55758403], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771430]]	None
ENST00000481791	[[55771155, 55771505], [55772042, 55772211]]	None
NM_080667	[[55746730, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772216]]	[[55746937, 55747052], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772144]]
NM_001282761	[[55746730, 55747052], [55747540, 55747615], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772216]]	[[55746937, 55747052], [55747540, 55747615], [55749237, 55749302], [55750856, 55750958], [55756013, 55756128], [55761008, 55761096], [55762847, 55762899], [55764618, 55764721], [55771073, 55771210], [55771355, 55771505], [55772042, 55772144]]

Promoter

Chrom	Start	End	Description
chr2	55746722	55746739	CAGE_peak_2_at_CCDC104_5end
chr2	55746746	55746872	CAGE_peak_1_at_CCDC104_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I055548	55548379	55548592	0.4	[{'connected_gene': 'PPP4R3B', 'score': 4.86}, {'connected_gene': 'ENSG00000212175', 'score': 0.37}, {'connected_gene': 'CFAP36', 'score': 0.31}]
chr2	GH02I055416	55416601	55421001	2.32	[{'connected_gene': 'CCDC88A', 'score': 574.49}, {'connected_gene': 'PIR31107', 'score': 550.77}, {'connected_gene': 'GC02P055419', 'score': 550.77}, {'connected_gene': 'GC02M055419', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 18.71}, {'connected_gene': 'CFAP36', 'score': 10.06}, {'connected_gene': 'GC02P055385', 'score': 0.29}]
chr2	GH02I055511	55511600	55511801	0.59	[{'connected_gene': 'CCDC88A', 'score': 10.74}, {'connected_gene': 'RNU6-221P', 'score': 10.61}, {'connected_gene': 'ENSG00000212175', 'score': 10.59}, {'connected_gene': 'ENSG00000240401', 'score': 9.26}, {'connected_gene': 'CFAP36', 'score': 0.44}, {'connected_gene': 'RNU6-634P', 'score': 0.39}]
chr2	GH02I055555	55555340	55557077	0.46	[{'connected_gene': 'PRORSD1P', 'score': 18.76}, {'connected_gene': 'CFAP36', 'score': 10.96}, {'connected_gene': 'CCDC88A', 'score': 10.03}, {'connected_gene': 'RNU6-634P', 'score': 9.77}, {'connected_gene': 'ENSG00000212175', 'score': 0.44}, {'connected_gene': 'PPP4R3B', 'score': 0.21}]
chr2	GH02I055518	55518601	55521067	2.06	[{'connected_gene': 'CFAP36', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 17.55}, {'connected_gene': 'LOC100128027', 'score': 11.08}, {'connected_gene': 'PNPT1', 'score': 5.62}, {'connected_gene': 'ENSG00000212175', 'score': 0.25}]
chr2	GH02I055550	55550023	55551048	0.56	[{'connected_gene': 'ENSG00000212175', 'score': 0.37}, {'connected_gene': 'CFAP36', 'score': 0.29}, {'connected_gene': 'PPP4R3B', 'score': 0.2}]
chr2	GH02I055530	55530274	55531374	0.2	[{'connected_gene': 'ENSG00000212175', 'score': 11.45}, {'connected_gene': 'RNU6-634P', 'score': 10.88}, {'connected_gene': 'RNU6-221P', 'score': 10.07}, {'connected_gene': 'PRORSD1P', 'score': 9.37}, {'connected_gene': 'PNPT1', 'score': 9.32}, {'connected_gene': 'CFAP36', 'score': 0.39}]