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
ENST00000234453	[[179345194, 179345636], [179350367, 179350484], [179355385, 179355541], [179358579, 179358716], [179360222, 179360387], [179363937, 179363981], [179365787, 179365903], [179368486, 179381189]]	[[179345596, 179345636], [179350367, 179350484], [179355385, 179355541], [179358579, 179358716], [179360222, 179360387], [179363937, 179363981], [179365787, 179365903], [179368486, 179368614]]
ENST00000453653	[[179345459, 179345636], [179350367, 179350484], [179353694, 179353741], [179355385, 179355541], [179358579, 179358716], [179360222, 179360337]]	[[179345596, 179345636], [179350367, 179350484], [179353694, 179353723]]
ENST00000461474	[[179346587, 179346705], [179350367, 179350484], [179355385, 179355541], [179358579, 179358716]]	None
ENST00000421187	[[179360345, 179360387], [179363937, 179363981], [179365787, 179365903], [179367062, 179367210], [179368486, 179368688]]	[[179360345, 179360387], [179363937, 179363981], [179365787, 179365903], [179367062, 179367205]]
NM_019091	[[179345198, 179345636], [179350367, 179350484], [179355385, 179355541], [179358579, 179358716], [179360222, 179360387], [179363937, 179363981], [179365787, 179365903], [179368486, 179369783]]	[[179345596, 179345636], [179350367, 179350484], [179355385, 179355541], [179358579, 179358716], [179360222, 179360387], [179363937, 179363981], [179365787, 179365903], [179368486, 179368614]]

Promoter

Chrom	Start	End	Description
chr2	179345073	179345097	CAGE_peak_2_at_PLEKHA3_5end
chr2	179345173	179345221	CAGE_peak_1_at_PLEKHA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I178477	178477400	178481695	2.08	[{'connected_gene': 'FKBP7', 'score': 569.51}, {'connected_gene': 'PLEKHA3', 'score': 550.77}, {'connected_gene': 'PJVK', 'score': 11.7}, {'connected_gene': 'PRKRA', 'score': 11.7}, {'connected_gene': 'LOC101927027', 'score': 6.51}, {'connected_gene': 'NUDCP2', 'score': 0.34}]
chr2	GH02I178438	178438395	178439548	0.38	[{'connected_gene': 'FKBP7', 'score': 29.25}, {'connected_gene': 'PLEKHA3', 'score': 11.12}, {'connected_gene': 'ENSG00000237477', 'score': 4.58}, {'connected_gene': 'PJVK', 'score': 0.39}, {'connected_gene': 'PRKRA', 'score': 0.39}, {'connected_gene': 'LOC101927027', 'score': 0.31}]
chr2	GH02I178448	178448986	178452658	2.28	[{'connected_gene': 'PJVK', 'score': 550.77}, {'connected_gene': 'PRKRA', 'score': 550.77}, {'connected_gene': 'FKBP7', 'score': 32.19}, {'connected_gene': 'PLEKHA3', 'score': 13.16}, {'connected_gene': 'ENSG00000270574', 'score': 11.34}, {'connected_gene': 'ENSG00000237477', 'score': 4.74}, {'connected_gene': 'LOC101927027', 'score': 4.24}]
chr2	GH02I178412	178412905	178415582	1.61	[{'connected_gene': 'LOC101927027', 'score': 565.27}, {'connected_gene': 'FKBP7', 'score': 31.99}, {'connected_gene': 'PLEKHA3', 'score': 23.9}, {'connected_gene': 'PJVK', 'score': 11.46}, {'connected_gene': 'PRKRA', 'score': 11.46}, {'connected_gene': 'RBM45', 'score': 9.97}]
chr2	GH02I178484	178484401	178485011	0.86	[{'connected_gene': 'LOC101927027', 'score': 68.07}, {'connected_gene': 'RBM45', 'score': 56.28}, {'connected_gene': 'NUDCP2', 'score': 33.44}, {'connected_gene': 'ENSG00000271401', 'score': 24.53}, {'connected_gene': 'PJVK', 'score': 23.32}, {'connected_gene': 'PLEKHA3', 'score': 22.56}, {'connected_gene': 'FKBP7', 'score': 16.84}, {'connected_gene': 'TTC30A', 'score': 13.44}, {'connected_gene': 'PRKRA', 'score': 11.68}, {'connected_gene': 'TTN-AS1', 'score': 0.28}]