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
ENST00000331825	[[49468557, 49468866], [49469026, 49469173], [49469537, 49469663], [49469839, 49470135]]	[[49468764, 49468866], [49469026, 49469173], [49469537, 49469663], [49469839, 49469992]]
NM_000146	[[49468565, 49468866], [49469026, 49469173], [49469537, 49469663], [49469839, 49470136]]	[[49468764, 49468866], [49469026, 49469173], [49469537, 49469663], [49469839, 49469992]]

Promoter

Chrom	Start	End	Description
chr19	49468563	49468567	CAGE_peak_1_at_FTL_5end
chr19	49468991	49469047	CAGE_peak_2_at_FTL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048898	48898353	48902130	2.04	[{'connected_gene': 'NUCB1', 'score': 571.47}, {'connected_gene': 'TULP2', 'score': 567.62}, {'connected_gene': 'PPP1R15A', 'score': 12.25}, {'connected_gene': 'PLEKHA4', 'score': 12.24}, {'connected_gene': 'BAX', 'score': 11.83}, {'connected_gene': 'FTL', 'score': 11.33}, {'connected_gene': 'DBP', 'score': 9.43}, {'connected_gene': 'SEC1P', 'score': 9.43}, {'connected_gene': 'IRF3', 'score': 5.54}, {'connected_gene': 'NUCB1-AS1', 'score': 0.37}]
chr19	GH19I048958	48958905	48969153	2.91	[{'connected_gene': 'FTL', 'score': 552.4}, {'connected_gene': 'GC19P048967', 'score': 550.77}, {'connected_gene': 'ENSG00000267898', 'score': 550.77}, {'connected_gene': 'GC19P048966', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 82.3}, {'connected_gene': 'PTOV1-AS2', 'score': 59.3}, {'connected_gene': 'IRF3', 'score': 58.81}, {'connected_gene': 'PRR12', 'score': 55.41}, {'connected_gene': 'SNORD35A', 'score': 52.87}, {'connected_gene': 'SNORD35B', 'score': 52.19}, {'connected_gene': 'ALDH16A1', 'score': 47.83}, {'connected_gene': 'GRWD1', 'score': 46.86}, {'connected_gene': 'PIH1D1', 'score': 45.72}, {'connected_gene': 'PNKP', 'score': 43.31}, {'connected_gene': 'KDELR1', 'score': 31.64}, {'connected_gene': 'PPP1R15A', 'score': 26.55}, {'connected_gene': 'RUVBL2', 'score': 25.65}, {'connected_gene': 'RPS11', 'score': 23.61}, {'connected_gene': 'ENSG00000268047', 'score': 23.44}, {'connected_gene': 'RPL18', 'score': 22.56}, {'connected_gene': 'CPT1C', 'score': 21.16}, {'connected_gene': 'DKKL1', 'score': 20.95}, {'connected_gene': 'RPL13A', 'score': 20.8}, {'connected_gene': 'BAX', 'score': 20.63}, {'connected_gene': 'PTOV1', 'score': 18.63}, {'connected_gene': 'IZUMO1', 'score': 16.67}, {'connected_gene': 'ENSG00000268093', 'score': 15.43}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'SEC1P', 'score': 13.96}, {'connected_gene': 'ZSWIM9', 'score': 12.7}, {'connected_gene': 'NUCB1', 'score': 11.69}, {'connected_gene': 'TULP2', 'score': 11.69}, {'connected_gene': 'NUCB1-AS1', 'score': 11.55}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'BCAT2', 'score': 11.1}, {'connected_gene': 'GYS1', 'score': 11.08}, {'connected_gene': 'RASIP1', 'score': 10.66}, {'connected_gene': 'ADM5', 'score': 10.36}, {'connected_gene': 'HSD17B14', 'score': 10.33}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'FLT3LG', 'score': 9.93}, {'connected_gene': 'CYTH2', 'score': 9.76}, {'connected_gene': 'DHDH', 'score': 5.28}, {'connected_gene': 'CD37', 'score': 3.53}]
chr19	GH19I048988	48988467	48995639	2.38	[{'connected_gene': 'RUVBL2', 'score': 571.6}, {'connected_gene': 'GYS1', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 59.62}, {'connected_gene': 'GRWD1', 'score': 40.79}, {'connected_gene': 'PTOV1-AS2', 'score': 29.07}, {'connected_gene': 'SNORD35A', 'score': 27.92}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'IRF3', 'score': 26.74}, {'connected_gene': 'SNORD35B', 'score': 26.55}, {'connected_gene': 'SNRNP70', 'score': 25.85}, {'connected_gene': 'ALDH16A1', 'score': 24.27}, {'connected_gene': 'PIH1D1', 'score': 21.58}, {'connected_gene': 'KDELR1', 'score': 21.42}, {'connected_gene': 'PNKP', 'score': 21.29}, {'connected_gene': 'PRR12', 'score': 20.52}, {'connected_gene': 'AKT1S1', 'score': 19.29}, {'connected_gene': 'LOC101059948', 'score': 16.3}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'RPS11', 'score': 13.45}, {'connected_gene': 'TRPM4', 'score': 13.13}, {'connected_gene': 'RPL18', 'score': 12.88}, {'connected_gene': 'RPL13A', 'score': 12.86}, {'connected_gene': 'NUCB1', 'score': 12.41}, {'connected_gene': 'CYTH2', 'score': 12.11}, {'connected_gene': 'FTL', 'score': 11.97}, {'connected_gene': 'CGB7', 'score': 11.6}, {'connected_gene': 'NTF4', 'score': 11.59}, {'connected_gene': 'TULP2', 'score': 11.4}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'KCNA7', 'score': 11.33}, {'connected_gene': 'NUCB1-AS1', 'score': 10.99}, {'connected_gene': 'DKKL1', 'score': 10.86}, {'connected_gene': 'PRMT1', 'score': 10.45}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'BCAT2', 'score': 2.36}, {'connected_gene': 'SPHK2', 'score': 1.35}, {'connected_gene': 'GC19P048967', 'score': 0.31}, {'connected_gene': 'GC19P048966', 'score': 0.31}]
chr19	GH19I048924	48924610	48927999	1.25	[{'connected_gene': 'GC19M048923', 'score': 550.77}, {'connected_gene': 'ENSG00000260366', 'score': 550.77}, {'connected_gene': 'GC19P048927', 'score': 550.77}, {'connected_gene': 'NUCB1', 'score': 10.78}, {'connected_gene': 'PPP1R15A', 'score': 7.58}, {'connected_gene': 'IZUMO1', 'score': 2.83}, {'connected_gene': 'FTL', 'score': 2.52}]