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
ENST00000252825	[[49654454, 49654589], [49654773, 49654810], [49655260, 49655315], [49655566, 49655635], [49656517, 49656588], [49656663, 49658681]]	[[49654552, 49654589], [49654773, 49654810], [49655260, 49655315], [49655566, 49655635], [49656517, 49656588], [49656663, 49658494]]
ENST00000598858	[[49654455, 49654589], [49655566, 49655635], [49656517, 49656588], [49656663, 49656692]]	[[49654469, 49654589], [49655566, 49655635], [49656517, 49656588], [49656663, 49656692]]
ENST00000595625	[[49654545, 49654589], [49654773, 49654810], [49655260, 49655315], [49656517, 49656588], [49656663, 49658500]]	[[49654552, 49654589], [49654773, 49654810], [49655260, 49655315], [49656517, 49656588], [49656663, 49658494]]
ENST00000595167	[[49655211, 49655635], [49656517, 49656564]]	None
NM_002152	[[49654454, 49654589], [49654773, 49654810], [49655260, 49655315], [49655566, 49655635], [49656517, 49656588], [49656663, 49658681]]	[[49654552, 49654589], [49654773, 49654810], [49655260, 49655315], [49655566, 49655635], [49656517, 49656588], [49656663, 49658494]]

Promoter

Chrom	Start	End	Description
chr19	49658387	49658397	CAGE_peak_6_at_HRC_5end
chr19	49658641	49658676	CAGE_peak_1_at_HRC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049142	49142251	49143383	1.52	[{'connected_gene': 'PPFIA3', 'score': 22.52}, {'connected_gene': 'C19orf73', 'score': 13.22}, {'connected_gene': 'LIN7B', 'score': 13.19}, {'connected_gene': 'SNRNP70', 'score': 12.04}, {'connected_gene': 'NTF4', 'score': 11.55}, {'connected_gene': 'CGB7', 'score': 11.54}, {'connected_gene': 'KCNA7', 'score': 11.5}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'CD37', 'score': 10.5}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.63}, {'connected_gene': 'TULP2', 'score': 9.6}, {'connected_gene': 'NUCB1-AS1', 'score': 4.48}, {'connected_gene': 'HRC', 'score': 0.39}]
chr19	GH19I049153	49153001	49153200	0.58	[{'connected_gene': 'PPFIA3', 'score': 8.86}, {'connected_gene': 'HRC', 'score': 0.77}]
chr19	GH19I049132	49132776	49134453	1	[{'connected_gene': 'PPFIA3', 'score': 0.39}, {'connected_gene': 'HRC', 'score': 0.34}]
chr19	GH19I049148	49148030	49152428	1.78	[{'connected_gene': 'SNRNP70', 'score': 30.63}, {'connected_gene': 'PPFIA3', 'score': 24.85}, {'connected_gene': 'PRR12', 'score': 23.59}, {'connected_gene': 'GRWD1', 'score': 22.81}, {'connected_gene': 'PIH1D1', 'score': 18.71}, {'connected_gene': 'SNORD35A', 'score': 14.85}, {'connected_gene': 'ALDH16A1', 'score': 14.82}, {'connected_gene': 'RPL13A', 'score': 14.69}, {'connected_gene': 'PTOV1-AS2', 'score': 14.5}, {'connected_gene': 'KDELR1', 'score': 13.99}, {'connected_gene': 'RPL18', 'score': 13.72}, {'connected_gene': 'IRF3', 'score': 13.54}, {'connected_gene': 'SNORD35B', 'score': 13.49}, {'connected_gene': 'RPS11', 'score': 13.14}, {'connected_gene': 'C19orf73', 'score': 12.45}, {'connected_gene': 'LIN7B', 'score': 12.43}, {'connected_gene': 'NUP62', 'score': 12.31}, {'connected_gene': 'PNKP', 'score': 11.73}, {'connected_gene': 'BCAT2', 'score': 10.98}, {'connected_gene': 'PTOV1', 'score': 10.57}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049145	49145590	49147173	1.38	[{'connected_gene': 'SNRNP70', 'score': 32.24}, {'connected_gene': 'PPFIA3', 'score': 29.55}, {'connected_gene': 'PRR12', 'score': 24.14}, {'connected_gene': 'C19orf73', 'score': 12.66}, {'connected_gene': 'LIN7B', 'score': 12.64}, {'connected_gene': 'KCNA7', 'score': 11.57}, {'connected_gene': 'NTF4', 'score': 11.5}, {'connected_gene': 'CGB7', 'score': 11.49}, {'connected_gene': 'CD37', 'score': 10.51}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.77}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'CARD8', 'score': 4.89}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049124	49124670	49126093	1.15	[{'connected_gene': 'LIN7B', 'score': 6.51}, {'connected_gene': 'PPFIA3', 'score': 0.44}, {'connected_gene': 'HRC', 'score': 0.29}]
chr19	GH19I049135	49135719	49137277	1.16	[{'connected_gene': 'LIN7B', 'score': 13.22}, {'connected_gene': 'SNRNP70', 'score': 12.05}, {'connected_gene': 'PPFIA3', 'score': 11.99}, {'connected_gene': 'NTF4', 'score': 11.56}, {'connected_gene': 'CGB7', 'score': 11.55}, {'connected_gene': 'KCNA7', 'score': 11.51}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.57}, {'connected_gene': 'TULP2', 'score': 9.25}, {'connected_gene': 'HRC', 'score': 0.37}]
chr19	GH19I048612	48612880	48620644	2.54	[{'connected_gene': 'RPL18', 'score': 581.93}, {'connected_gene': 'FAM83E', 'score': 550.77}, {'connected_gene': 'SPHK2', 'score': 550.77}, {'connected_gene': 'PIR55128', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 62.9}, {'connected_gene': 'PIH1D1', 'score': 50.83}, {'connected_gene': 'SNORD35A', 'score': 49.34}, {'connected_gene': 'SNORD35B', 'score': 46.26}, {'connected_gene': 'ALDH16A1', 'score': 43.9}, {'connected_gene': 'KDELR1', 'score': 40.71}, {'connected_gene': 'NOP53-AS1', 'score': 40.61}, {'connected_gene': 'RPS11', 'score': 35.53}, {'connected_gene': 'NOP53', 'score': 34.4}, {'connected_gene': 'RPL13A', 'score': 29.8}, {'connected_gene': 'SNORD23', 'score': 29.51}, {'connected_gene': 'GRWD1', 'score': 22.23}, {'connected_gene': 'FLT3LG', 'score': 19.93}, {'connected_gene': 'FUT2', 'score': 17.68}, {'connected_gene': 'ENSG00000268093', 'score': 15.81}, {'connected_gene': 'SEC1P', 'score': 15.14}, {'connected_gene': 'CYTH2', 'score': 12.19}, {'connected_gene': 'BAX', 'score': 11.34}, {'connected_gene': 'EMP3', 'score': 10.25}, {'connected_gene': 'HRC', 'score': 4.62}, {'connected_gene': 'PRRG2', 'score': 4.57}]
chr19	GH19I049147	49147864	49148013	0.58	[{'connected_gene': 'C19orf73', 'score': 12.46}, {'connected_gene': 'PPFIA3', 'score': 12.46}, {'connected_gene': 'LIN7B', 'score': 12.45}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19	GH19I049154	49154201	49159325	2.44	[{'connected_gene': 'TRPM4', 'score': 564.2}, {'connected_gene': 'HRC', 'score': 558.18}, {'connected_gene': 'PRR12', 'score': 14.09}, {'connected_gene': 'SEC1P', 'score': 13.94}, {'connected_gene': 'GRWD1', 'score': 13.83}, {'connected_gene': 'RPS11', 'score': 13.02}, {'connected_gene': 'SNORD35A', 'score': 12.36}, {'connected_gene': 'RPL13A', 'score': 12.28}, {'connected_gene': 'PIH1D1', 'score': 11.95}, {'connected_gene': 'RPL18', 'score': 11.54}, {'connected_gene': 'NUP62', 'score': 11.33}, {'connected_gene': 'KDELR1', 'score': 10.74}, {'connected_gene': 'SNORD35B', 'score': 10.19}, {'connected_gene': 'ALDH16A1', 'score': 10.14}, {'connected_gene': 'MED25', 'score': 10.08}, {'connected_gene': 'SNRNP70', 'score': 9.95}, {'connected_gene': 'IRF3', 'score': 9.94}, {'connected_gene': 'PPFIA3', 'score': 6.75}]
chr19	GH19I049155	49153801	49154000	0.51	[{'connected_gene': 'HRC', 'score': 550.77}, {'connected_gene': 'PPFIA3', 'score': 0.29}]
chr19	GH19I049127	49127578	49129888	1.75	[{'connected_gene': 'SNORD35A', 'score': 36.62}, {'connected_gene': 'SNORD35B', 'score': 34.07}, {'connected_gene': 'ALDH16A1', 'score': 33.39}, {'connected_gene': 'NUP62', 'score': 27.89}, {'connected_gene': 'PTOV1-AS2', 'score': 27.49}, {'connected_gene': 'GRWD1', 'score': 22.88}, {'connected_gene': 'SNRNP70', 'score': 21.86}, {'connected_gene': 'IRF3', 'score': 21.37}, {'connected_gene': 'PIH1D1', 'score': 13.54}, {'connected_gene': 'PRR12', 'score': 12.97}, {'connected_gene': 'DKKL1', 'score': 11.88}, {'connected_gene': 'BCL2L12', 'score': 11.84}, {'connected_gene': 'BAX', 'score': 11.1}, {'connected_gene': 'CARD8', 'score': 10.89}, {'connected_gene': 'RPS11', 'score': 10.48}, {'connected_gene': 'ADM5', 'score': 10.37}, {'connected_gene': 'PNKP', 'score': 10.33}, {'connected_gene': 'RPL13A', 'score': 10.3}, {'connected_gene': 'PPFIA3', 'score': 6.66}, {'connected_gene': 'LIN7B', 'score': 5.68}, {'connected_gene': 'FCGRT', 'score': 5.47}, {'connected_gene': 'NTF4', 'score': 5.44}, {'connected_gene': 'HRC', 'score': 0.31}]