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
ENST00000371244	[[57110994, 57111154], [57140053, 57140195], [57157066, 57157160], [57158030, 57158175], [57159437, 57159525], [57161607, 57161832], [57169643, 57170148], [57171764, 57171891], [57173147, 57181008]]	[[57111060, 57111154], [57140053, 57140195], [57157066, 57157160], [57158030, 57158175], [57159437, 57159525], [57161607, 57161832], [57169643, 57170148], [57171764, 57171891], [57173147, 57173386]]
NM_006252	[[57110989, 57111154], [57140053, 57140195], [57157066, 57157160], [57158030, 57158175], [57159437, 57159525], [57161607, 57161832], [57169643, 57170148], [57171764, 57171891], [57173147, 57181008]]	[[57111060, 57111154], [57140053, 57140195], [57157066, 57157160], [57158030, 57158175], [57159437, 57159525], [57161607, 57161832], [57169643, 57170148], [57171764, 57171891], [57173147, 57173386]]

Promoter

Chrom	Start	End	Description
chr1	57110778	57110789	CAGE_peak_3_at_PRKAA2_5end
chr1	57110812	57110823	CAGE_peak_4_at_PRKAA2_5end
chr1	57110857	57110886	CAGE_peak_2_at_PRKAA2_5end
chr1	57110972	57111062	CAGE_peak_1_at_PRKAA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I056574	56574800	56582386	2.5	[{'connected_gene': 'PLPP3', 'score': 554.69}, {'connected_gene': 'C8A', 'score': 8.33}, {'connected_gene': 'FYB2', 'score': 7.87}, {'connected_gene': 'C8B', 'score': 6.59}, {'connected_gene': 'PRKAA2', 'score': 4.96}, {'connected_gene': 'RPL23AP85', 'score': 0.44}, {'connected_gene': 'GC01P056539', 'score': 0.26}]
chr1	GH01I056676	56676027	56678076	0.84	[{'connected_gene': 'PLPP3', 'score': 11.24}, {'connected_gene': 'PRKAA2', 'score': 11.24}, {'connected_gene': 'GC01M056666', 'score': 0.77}, {'connected_gene': 'GC01P056713', 'score': 0.28}]
chr1	GH01I056644	56644011	56646533	1.87	[{'connected_gene': 'PLPP3', 'score': 550.77}, {'connected_gene': 'LOC101929935', 'score': 550.77}, {'connected_gene': 'PRKAA2', 'score': 550.77}, {'connected_gene': 'GC01M056607', 'score': 0.39}]
chr1	GH01I056687	56687596	56689396	1.15	[{'connected_gene': 'GC01M056666', 'score': 0.39}, {'connected_gene': 'GC01P056713', 'score': 0.31}, {'connected_gene': 'PRKAA2', 'score': 0.26}]