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
ENST00000342506	[[197669725, 197670132], [197672147, 197672346], [197673937, 197675000]]	[[197672166, 197672346], [197673937, 197674111]]
NM_213608	[[197669138, 197670132], [197672147, 197672346], [197673937, 197675000]]	[[197672166, 197672346], [197673937, 197674111]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I196266	196266748	196270510	1.43	[{'connected_gene': 'STK17B', 'score': 14.93}, {'connected_gene': 'LOC101927482', 'score': 14.34}, {'connected_gene': 'C2orf66', 'score': 4.02}, {'connected_gene': 'GC02P196292', 'score': 0.34}, {'connected_gene': 'HECW2', 'score': 0.05}]
chr2	GH02I197150	197150541	197155056	1.08	[{'connected_gene': 'ANKRD44', 'score': 18.34}, {'connected_gene': 'ANKRD44-IT1', 'score': 11.64}, {'connected_gene': 'LOC105373824', 'score': 11.64}, {'connected_gene': 'LOC101927596', 'score': 11.04}, {'connected_gene': 'ENSG00000202434', 'score': 9.23}, {'connected_gene': 'SF3B1', 'score': 9.22}, {'connected_gene': 'C2orf66', 'score': 4.18}, {'connected_gene': 'GC02P197128', 'score': 0.34}]
chr2	GH02I196924	196924554	196928399	2.05	[{'connected_gene': 'PGAP1', 'score': 550.77}, {'connected_gene': 'GTF3C3', 'score': 23.5}, {'connected_gene': 'SF3B1', 'score': 18.98}, {'connected_gene': 'NPM1P46', 'score': 14.84}, {'connected_gene': 'LOC101927482', 'score': 11.76}, {'connected_gene': 'C2orf66', 'score': 6.35}, {'connected_gene': 'GC02P196852', 'score': 0.19}]
chr2	GH02I196800	196800991	196802665	0.57	[{'connected_gene': 'PGAP1', 'score': 9.81}, {'connected_gene': 'C2orf66', 'score': 6.63}, {'connected_gene': 'GTF3C3', 'score': 0.77}]
chr2	GH02I196758	196758295	196758521	0.24	[{'connected_gene': 'C2orf66', 'score': 5.37}, {'connected_gene': 'GTF3C3', 'score': 0.26}, {'connected_gene': 'LOC100130452', 'score': 0.25}, {'connected_gene': 'CCDC150', 'score': 0.13}]
chr2	GH02I196810	196810234	196810293	0.5	[{'connected_gene': 'C2orf66', 'score': 550.77}, {'connected_gene': 'GTF3C3', 'score': 0.39}]
chr2	GH02I196821	196821727	196821963	0.22	[{'connected_gene': 'C2orf66', 'score': 10.41}, {'connected_gene': 'PGAP1', 'score': 6.77}, {'connected_gene': 'GC02P196828', 'score': 0.44}]
chr2	GH02I196914	196914910	196916055	0.2	[{'connected_gene': 'C2orf66', 'score': 4.9}, {'connected_gene': 'PGAP1', 'score': 0.39}, {'connected_gene': 'GC02P196852', 'score': 0.21}]
chr2	GH02I196639	196639037	196641077	2.04	[{'connected_gene': 'CCDC150', 'score': 556.19}, {'connected_gene': 'LOC105373823', 'score': 550.77}, {'connected_gene': 'SF3B1', 'score': 17.79}, {'connected_gene': 'NPM1P46', 'score': 12.02}, {'connected_gene': 'GTF3C3', 'score': 11.54}, {'connected_gene': 'LOC101927482', 'score': 11.35}, {'connected_gene': 'C2orf66', 'score': 7.2}, {'connected_gene': 'ANKRD44', 'score': 6.18}, {'connected_gene': 'ENSG00000252923', 'score': 0.25}, {'connected_gene': 'GC02M196687', 'score': 0.25}]
chr2	GH02I196258	196258858	196264600	1.34	[{'connected_gene': 'LOC101927482', 'score': 570.2}, {'connected_gene': 'STK17B', 'score': 16.84}, {'connected_gene': 'C2orf66', 'score': 4.05}, {'connected_gene': 'GC02P196292', 'score': 0.31}, {'connected_gene': 'HECW2', 'score': 0.06}]
chr2	GH02I196823	196823377	196824556	0.56	[{'connected_gene': 'GC02P196828', 'score': 0.77}, {'connected_gene': 'C2orf66', 'score': 0.39}]