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
ENST00000307128	[[120056938, 120057137], [120057666, 120057756], [120072026, 120072196], [120079176, 120079306], [120085365, 120085549], [120107120, 120108944]]	[[120057680, 120057756], [120072026, 120072196], [120079176, 120079306], [120085365, 120085549], [120107120, 120107355]]
NM_016599	[[120056938, 120057137], [120057666, 120057756], [120072026, 120072196], [120079176, 120079306], [120085365, 120085549], [120107120, 120108944]]	[[120057680, 120057756], [120072026, 120072196], [120079176, 120079306], [120085365, 120085549], [120107120, 120107355]]

Promoter

Chrom	Start	End	Description
chr4	120056959	120056973	CAGE_peak_3_at_MYOZ2_5end
chr4	120056975	120056978	CAGE_peak_4_at_MYOZ2_5end
chr4	120056981	120057014	CAGE_peak_1_at_MYOZ2_5end
chr4	120057058	120057072	CAGE_peak_2_at_MYOZ2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I119138	119138661	119140702	0.86	[{'connected_gene': 'LOC645513', 'score': 8.58}, {'connected_gene': 'MYOZ2', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.34}, {'connected_gene': 'MRPL42P1', 'score': 0.22}]
chr4	GH04I119237	119237739	119238473	0.77	[{'connected_gene': 'LOC645513', 'score': 42.02}, {'connected_gene': 'LOC101929762', 'score': 12.6}, {'connected_gene': 'USP53', 'score': 12.6}, {'connected_gene': 'MYOZ2', 'score': 10.39}, {'connected_gene': 'PIR34278', 'score': 0.21}, {'connected_gene': 'GC04P119302', 'score': 0.21}]
chr4	GH04I119102	119102053	119104806	1.54	[{'connected_gene': 'METTL14', 'score': 17.26}, {'connected_gene': 'CICP16', 'score': 15.46}, {'connected_gene': 'USP53', 'score': 15.35}, {'connected_gene': 'MYOZ2', 'score': 11.41}, {'connected_gene': 'SNHG8', 'score': 10.89}, {'connected_gene': 'FABP2', 'score': 6.89}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.39}]
chr4	GH04I119130	119130440	119133075	0.4	[{'connected_gene': 'USP53', 'score': 9.91}, {'connected_gene': 'KLHL2P1', 'score': 6.32}, {'connected_gene': 'LOC105377395', 'score': 0.77}, {'connected_gene': 'MYOZ2', 'score': 0.77}, {'connected_gene': 'GC04P119115', 'score': 0.37}, {'connected_gene': 'LOC102723967', 'score': 0.29}]
chr4	GH04I119134	119134810	119138533	1.22	[{'connected_gene': 'MYOZ2', 'score': 550.77}, {'connected_gene': 'LOC645513', 'score': 14.42}, {'connected_gene': 'GC04P119115', 'score': 0.34}, {'connected_gene': 'MRPL42P1', 'score': 0.22}]
chr4	GH04I119037	119037434	119042551	1.07	[{'connected_gene': 'MYOZ2', 'score': 10.29}, {'connected_gene': 'LOC645513', 'score': 6.9}, {'connected_gene': 'GC04P119036', 'score': 0.77}, {'connected_gene': 'ENSG00000280551', 'score': 0.77}, {'connected_gene': 'SYNPO2', 'score': 0.09}]
chr4	GH04I119096	119096282	119096952	0.2	[{'connected_gene': 'MYOZ2', 'score': 10.52}, {'connected_gene': 'USP53', 'score': 9.45}, {'connected_gene': 'FABP2', 'score': 5.8}, {'connected_gene': 'LOC102723967', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.31}]
chr4	GH04I119172	119172327	119172533	0.41	[{'connected_gene': 'MYOZ2', 'score': 11.04}, {'connected_gene': 'MRPL42P1', 'score': 0.34}]
chr4	GH04I119149	119149201	119149400	0.38	[{'connected_gene': 'MYOZ2', 'score': 0.39}, {'connected_gene': 'MRPL42P1', 'score': 0.25}]
chr4	GH04I119029	119029857	119032346	0.31	[{'connected_gene': 'MYOZ2', 'score': 4.92}, {'connected_gene': 'GC04P119036', 'score': 0.44}, {'connected_gene': 'ENSG00000249002', 'score': 0.31}, {'connected_gene': 'SYNPO2', 'score': 0.09}]
chr4	GH04I119227	119227746	119227895	0.38	[{'connected_gene': 'MYOZ2', 'score': 9.58}, {'connected_gene': 'LOC101929762', 'score': 0.37}, {'connected_gene': 'USP53', 'score': 0.37}, {'connected_gene': 'PIR34278', 'score': 0.19}, {'connected_gene': 'GC04P119302', 'score': 0.19}]
chr4	GH04I119189	119189786	119189875	0.31	[{'connected_gene': 'MRPL42P1', 'score': 0.44}, {'connected_gene': 'MYOZ2', 'score': 0.23}]
chr4	GH04I119044	119044502	119045597	0.2	[{'connected_gene': 'LOC101929762', 'score': 11.46}, {'connected_gene': 'USP53', 'score': 11.46}, {'connected_gene': 'MYOZ2', 'score': 10.63}, {'connected_gene': 'LOC645513', 'score': 4.06}, {'connected_gene': 'ENSG00000280551', 'score': 0.77}, {'connected_gene': 'GC04M119070', 'score': 0.31}, {'connected_gene': 'SYNPO2', 'score': 0.08}]
chr4	GH04I119042	119042601	119043303	0.46	[{'connected_gene': 'ENSG00000280551', 'score': 550.77}, {'connected_gene': 'LOC729218', 'score': 13.55}, {'connected_gene': 'MYOZ2', 'score': 10.29}, {'connected_gene': 'GC04M119070', 'score': 0.31}, {'connected_gene': 'SYNPO2', 'score': 0.08}]