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
ENST00000309042	[[57774074, 57774379], [57776795, 57777702], [57785952, 57786036], [57796006, 57802010]]	[[57776804, 57777702], [57785952, 57786036], [57796006, 57798318]]
ENST00000511065	[[57775078, 57775205], [57776795, 57777181]]	None
ENST00000503522	[[57775355, 57775753], [57776795, 57776854]]	None
ENST00000514063	[[57777377, 57777702], [57785952, 57786036], [57793780, 57793830], [57796006, 57796125]]	None
NM_005612	[[57774041, 57774379], [57776795, 57777702], [57785952, 57786036], [57796006, 57802010]]	[[57776804, 57777702], [57785952, 57786036], [57796006, 57798318]]
NM_001193508	[[57775078, 57775205], [57776795, 57777702], [57785952, 57786036], [57796006, 57802010]]	[[57776804, 57777702], [57785952, 57786036], [57796006, 57798318]]

Promoter

Chrom	Start	End	Description
chr4	57774018	57774040	CAGE_peak_3_at_REST_5end
chr4	57774042	57774114	CAGE_peak_1_at_REST_5end
chr4	57774274	57774299	CAGE_peak_8_at_REST_5end
chr4	57774884	57774924	CAGE_peak_4_at_REST_5end
chr4	57775059	57775139	CAGE_peak_2_at_REST_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I056975	56975800	56983285	2.28	[{'connected_gene': 'NOA1', 'score': 565.13}, {'connected_gene': 'POLR2B', 'score': 550.77}, {'connected_gene': 'ENSG00000269949', 'score': 21.36}, {'connected_gene': 'RNU6-998P', 'score': 10.66}, {'connected_gene': 'REST', 'score': 10.64}, {'connected_gene': 'AASDH', 'score': 10.61}]
chr4	GH04I056803	56803555	56803744	0.56	[{'connected_gene': 'SRP72', 'score': 10.29}, {'connected_gene': 'REST', 'score': 10.27}, {'connected_gene': 'HOPX', 'score': 9.77}, {'connected_gene': 'SPINK2', 'score': 6.97}, {'connected_gene': 'GC04P056807', 'score': 0.77}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056836	56836600	56837000	0.79	[{'connected_gene': 'SRP72', 'score': 10.46}, {'connected_gene': 'REST', 'score': 10.41}, {'connected_gene': 'HOPX', 'score': 10.36}, {'connected_gene': 'PAICS', 'score': 10.3}, {'connected_gene': 'PPAT', 'score': 10.3}, {'connected_gene': 'AASDH', 'score': 9.76}, {'connected_gene': 'SPINK2', 'score': 9.27}, {'connected_gene': 'GC04P056899', 'score': 0.21}]
chr4	GH04I056844	56844895	56845044	0.46	[{'connected_gene': 'SPINK2', 'score': 11.58}, {'connected_gene': 'ENSG00000251799', 'score': 11.55}, {'connected_gene': 'REST', 'score': 10.37}, {'connected_gene': 'GC04P056899', 'score': 0.23}]
chr4	GH04I056799	56799363	56800904	1.05	[{'connected_gene': 'SPINK2', 'score': 12.92}, {'connected_gene': 'PAICS', 'score': 10.6}, {'connected_gene': 'PPAT', 'score': 10.6}, {'connected_gene': 'NOA1', 'score': 10.11}, {'connected_gene': 'POLR2B', 'score': 10.11}, {'connected_gene': 'SRP72', 'score': 9.91}, {'connected_gene': 'REST', 'score': 9.41}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'GC04P056807', 'score': 0.44}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056906	56906678	56911262	1.99	[{'connected_gene': 'REST', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 24.01}, {'connected_gene': 'POLR2B', 'score': 23.59}, {'connected_gene': 'AASDH', 'score': 18.18}, {'connected_gene': 'SRP72', 'score': 15.4}, {'connected_gene': 'CEP135', 'score': 13.63}, {'connected_gene': 'ENSG00000269949', 'score': 11.71}, {'connected_gene': 'SPINK2', 'score': 10.65}, {'connected_gene': 'ENSG00000251799', 'score': 10.64}, {'connected_gene': 'RNU6-998P', 'score': 9.76}, {'connected_gene': 'GC04P056945', 'score': 0.28}]
chr4	GH04I056874	56874291	56874634	0.78	[{'connected_gene': 'REST', 'score': 13.45}, {'connected_gene': 'SPINK2', 'score': 11.35}, {'connected_gene': 'ENSG00000251799', 'score': 11.34}, {'connected_gene': 'NOA1', 'score': 10.57}, {'connected_gene': 'POLR2B', 'score': 10.57}, {'connected_gene': 'HOPX', 'score': 10.33}, {'connected_gene': 'ENSG00000269949', 'score': 4.86}, {'connected_gene': 'PPAT', 'score': 3.19}, {'connected_gene': 'GC04P056899', 'score': 0.34}]
chr4	GH04I056957	56957802	56959282	0.98	[{'connected_gene': 'GC04P056957', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 10.94}, {'connected_gene': 'ENSG00000269949', 'score': 6.41}, {'connected_gene': 'GC04P056960', 'score': 0.77}, {'connected_gene': 'REST', 'score': 0.23}]
chr4	GH04I056870	56870379	56872271	0.69	[{'connected_gene': 'ENSG00000269949', 'score': 13.7}, {'connected_gene': 'REST', 'score': 11.8}, {'connected_gene': 'SPINK2', 'score': 11.37}, {'connected_gene': 'ENSG00000251799', 'score': 11.35}, {'connected_gene': 'POLR2B', 'score': 10.49}, {'connected_gene': 'NOA1', 'score': 10.49}, {'connected_gene': 'GC04P056899', 'score': 0.31}]
chr4	GH04I056936	56936855	56938114	0.49	[{'connected_gene': 'ENSG00000269949', 'score': 25.45}, {'connected_gene': 'POLR2B', 'score': 11.85}, {'connected_gene': 'NOA1', 'score': 11.85}, {'connected_gene': 'REST', 'score': 10.97}, {'connected_gene': 'GC04P056945', 'score': 0.44}]