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
ENST00000510904	[[249132408, 249132569], [249138695, 249138835], [249139764, 249139861], [249141250, 249141407]]	None
ENST00000306562	[[249132478, 249132750], [249138681, 249138835], [249139764, 249139861], [249141250, 249143716]]	[[249141473, 249142832]]
ENST00000505503	[[249132529, 249132750], [249138681, 249138835], [249139764, 249139861], [249141373, 249141484]]	[[249141473, 249141484]]
ENST00000428515	[[249133026, 249133273], [249138681, 249138835], [249139764, 249139861], [249141250, 249141682]]	[[249141473, 249141682]]
ENST00000502697	[[249133204, 249133343], [249138681, 249138835], [249139764, 249139861], [249141250, 249141419]]	None
ENST00000515369	[[249133288, 249133429], [249136921, 249136979], [249138681, 249138835], [249139764, 249139861], [249141250, 249141300]]	None
ENST00000423362	[[249133352, 249133650], [249138681, 249138835], [249139764, 249139861], [249141250, 249141584]]	[[249141473, 249141584]]
NM_024836	[[249132376, 249132750], [249138681, 249138835], [249139764, 249139861], [249141250, 249143716]]	[[249141473, 249142832]]

Promoter

Chrom	Start	End	Description
chr1	249132410	249132456	CAGE_peak_1_at_ZNF672_5end
chr1	249132462	249132481	CAGE_peak_6_at_ZNF672_5end
chr1	249132484	249132505	CAGE_peak_4_at_ZNF672_5end
chr1	249132512	249132547	CAGE_peak_2_at_ZNF672_5end
chr1	249132556	249132573	CAGE_peak_3_at_ZNF672_5end
chr1	249132608	249132628	CAGE_peak_5_at_ZNF672_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I248840	248840401	248844064	1.14	[{'connected_gene': 'SH3BP5L', 'score': 7.1}, {'connected_gene': 'ZNF692', 'score': 6.85}, {'connected_gene': 'ZNF672', 'score': 0.77}, {'connected_gene': 'PIR53527', 'score': 0.44}]
chr1	GH01I248862	248862601	248864000	1.54	[{'connected_gene': 'SH3BP5L', 'score': 6.46}, {'connected_gene': 'ZNF692', 'score': 2.58}, {'connected_gene': 'OR14I1', 'score': 1.7}, {'connected_gene': 'ZNF672', 'score': 1.57}, {'connected_gene': 'ENSG00000227237', 'score': 0.77}, {'connected_gene': 'PGBD2', 'score': 0.44}]
chr1	GH01I248816	248816401	248817600	0.69	[{'connected_gene': 'ZNF672', 'score': 11.87}, {'connected_gene': 'ENSG00000227237', 'score': 10.96}, {'connected_gene': 'ZNF692', 'score': 10.96}, {'connected_gene': 'PGBD2', 'score': 10.26}, {'connected_gene': 'SH3BP5L', 'score': 9.54}, {'connected_gene': 'MIR3124', 'score': 0.44}, {'connected_gene': 'GC01P248810', 'score': 0.44}]
chr1	GH01I248924	248924689	248927201	1.07	[{'connected_gene': 'ZNF672', 'score': 11.48}, {'connected_gene': 'ENSG00000227237', 'score': 11.35}, {'connected_gene': 'ZNF692', 'score': 11.35}, {'connected_gene': 'PGBD2', 'score': 11.03}, {'connected_gene': 'SH3BP5L', 'score': 10.72}, {'connected_gene': 'PIR45582', 'score': 0.77}, {'connected_gene': 'PIR40629', 'score': 0.44}, {'connected_gene': 'GC01P248921', 'score': 0.44}]
chr1	GH01I248837	248837086	248839930	2.03	[{'connected_gene': 'ZNF672', 'score': 550.77}, {'connected_gene': 'PGBD2', 'score': 22.3}, {'connected_gene': 'PIR53527', 'score': 0.39}]
chr1	GH01I248886	248886600	248886801	0.66	[{'connected_gene': 'RNU6-1205P', 'score': 12.02}, {'connected_gene': 'ZNF672', 'score': 11.64}, {'connected_gene': 'ENSG00000227237', 'score': 11.54}, {'connected_gene': 'ZNF692', 'score': 11.54}, {'connected_gene': 'SH3BP5L', 'score': 10.9}, {'connected_gene': 'PIR34959', 'score': 0.44}, {'connected_gene': 'PGBD2', 'score': 0.39}, {'connected_gene': 'TRE-CTC2-1', 'score': 0.39}]
chr1	GH01I248883	248883530	248883654	0.2	[{'connected_gene': 'RNU6-1205P', 'score': 12.02}, {'connected_gene': 'ZNF672', 'score': 11.64}, {'connected_gene': 'ENSG00000227237', 'score': 11.57}, {'connected_gene': 'ZNF692', 'score': 11.57}, {'connected_gene': 'SH3BP5L', 'score': 10.91}, {'connected_gene': 'PIR34959', 'score': 0.44}, {'connected_gene': 'TRE-CTC2-1', 'score': 0.44}, {'connected_gene': 'PGBD2', 'score': 0.39}]