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
ENST00000476110	[[41347350, 41347480], [41349558, 41349637], [41360050, 41360415]]	None
ENST00000216225	[[41347362, 41347480], [41349558, 41349637], [41360050, 41360121], [41363802, 41363888], [41368479, 41369313]]	[[41347402, 41347480], [41349558, 41349637], [41360050, 41360121], [41363802, 41363888], [41368479, 41368492]]
ENST00000467617	[[41362204, 41363888], [41368479, 41368666]]	None
NM_014248	[[41347350, 41347480], [41349558, 41349637], [41360050, 41360121], [41363802, 41363888], [41368479, 41369019]]	[[41347402, 41347480], [41349558, 41349637], [41360050, 41360121], [41363802, 41363888], [41368479, 41368492]]

Promoter

Chrom	Start	End	Description
chr22	41347274	41347309	CAGE_peak_2_at_RBX1_5end
chr22	41347368	41347399	CAGE_peak_1_at_RBX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I040950	40950009	40953124	2.33	[{'connected_gene': 'RBX1', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 27.79}, {'connected_gene': 'XRCC6', 'score': 15.99}, {'connected_gene': 'EP300-AS1', 'score': 14.08}, {'connected_gene': 'ADSL', 'score': 13.05}, {'connected_gene': 'DNAJB7', 'score': 12.52}, {'connected_gene': 'XPNPEP3', 'score': 10.37}, {'connected_gene': 'ST13', 'score': 10.37}, {'connected_gene': 'GC22P040976', 'score': 0.31}]
chr22	GH22I040941	40941859	40942547	0.4	[{'connected_gene': 'RBX1', 'score': 0.44}, {'connected_gene': 'PIR37442', 'score': 0.39}]
chr22	GH22I040954	40954525	40956534	0.57	[{'connected_gene': 'XPNPEP3', 'score': 14.43}, {'connected_gene': 'EP300', 'score': 12.31}, {'connected_gene': 'ST13', 'score': 10.37}, {'connected_gene': 'RBX1', 'score': 0.77}, {'connected_gene': 'GC22P040976', 'score': 0.34}]
chr22	GH22I041503	41503669	41505070	0.69	[{'connected_gene': 'CSDC2', 'score': 11.37}, {'connected_gene': 'MEI1', 'score': 9.78}, {'connected_gene': 'RBX1', 'score': 4.81}, {'connected_gene': 'PIR38077', 'score': 0.77}, {'connected_gene': 'PIR44656', 'score': 0.77}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22	GH22I040965	40965510	40967400	0.93	[{'connected_gene': 'EP300', 'score': 11.76}, {'connected_gene': 'RNU6-375P', 'score': 10.36}, {'connected_gene': 'XPNPEP3', 'score': 9.57}, {'connected_gene': 'ST13', 'score': 9.57}, {'connected_gene': 'MKL1', 'score': 5.16}, {'connected_gene': 'GC22P040976', 'score': 0.39}, {'connected_gene': 'RBX1', 'score': 0.37}]