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
ENST00000264230	[[57829535, 57829827], [57830571, 57830692], [57832785, 57832902], [57834549, 57834681], [57839313, 57839519], [57840023, 57840188], [57842607, 57844989]]	[[57829615, 57829827], [57830571, 57830692], [57832785, 57832902], [57834549, 57834681], [57839313, 57839519], [57840023, 57840188], [57842607, 57843751]]
NM_032313	[[57829509, 57829827], [57830571, 57830692], [57832785, 57832902], [57834549, 57834681], [57839313, 57839519], [57840023, 57840188], [57842607, 57843826]]	[[57829615, 57829827], [57830571, 57830692], [57832785, 57832902], [57834549, 57834681], [57839313, 57839519], [57840023, 57840188], [57842607, 57843751]]

Promoter

Chrom	Start	End	Description
chr4	57843703	57843720	CAGE_peak_2_at_NOA1_5end
chr4	57843721	57843736	CAGE_peak_3_at_NOA1_5end
chr4	57843743	57843780	CAGE_peak_1_at_NOA1_5end
chr4	57843785	57843796	CAGE_peak_4_at_NOA1_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	GH04I057022	57022107	57024183	0.63	[{'connected_gene': 'NOA1', 'score': 8.64}, {'connected_gene': 'ENSG00000269949', 'score': 6.43}, {'connected_gene': 'RNU6-998P', 'score': 0.34}, {'connected_gene': 'POLR2B', 'score': 0.25}, {'connected_gene': 'UBE2CP3', 'score': 0.25}]
chr4	GH04I056995	56995065	56996199	0.38	[{'connected_gene': 'NOA1', 'score': 11.19}, {'connected_gene': 'RNU6-998P', 'score': 0.44}, {'connected_gene': 'POLR2B', 'score': 0.37}]
chr4	GH04I057048	57048735	57049001	0.6	[{'connected_gene': 'NOA1', 'score': 4.73}, {'connected_gene': 'UBE2CP3', 'score': 0.34}, {'connected_gene': 'RNU6-998P', 'score': 0.25}, {'connected_gene': 'IGFBP7', 'score': 0.21}]
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	GH04I057100	57100721	57100826	0.4	[{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.44}, {'connected_gene': 'IGFBP7', 'score': 0.44}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4	GH04I057101	57101132	57105850	1.2	[{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 9.48}, {'connected_gene': 'IGFBP7', 'score': 7.27}, {'connected_gene': 'UBE2CP3', 'score': 0.29}]
chr4	GH04I057090	57090001	57090844	0.78	[{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7', 'score': 5.11}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4	GH04I057093	57093986	57096846	0.94	[{'connected_gene': 'RNU6-998P', 'score': 10.34}, {'connected_gene': 'POLR2B', 'score': 9.6}, {'connected_gene': 'NOA1', 'score': 9.6}, {'connected_gene': 'IGFBP7-AS1', 'score': 7.41}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.34}]
chr4	GH04I057091	57091072	57092087	0.2	[{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'IGFBP7', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4	GH04I057097	57097799	57100431	0.94	[{'connected_gene': 'RNU6-998P', 'score': 10.33}, {'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.39}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
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	GH04I057019	57019937	57021942	0.69	[{'connected_gene': 'ENSG00000269949', 'score': 21.92}, {'connected_gene': 'NOA1', 'score': 11.18}, {'connected_gene': 'RNU6-998P', 'score': 0.37}, {'connected_gene': 'POLR2B', 'score': 0.26}, {'connected_gene': 'UBE2CP3', '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}]
chr4	GH04I057037	57037249	57038836	0.63	[{'connected_gene': 'ENSG00000269949', 'score': 21.76}, {'connected_gene': 'RNU6-998P', 'score': 11.65}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'POLR2B', 'score': 11.56}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.19}]
chr4	GH04I057038	57038914	57041140	0.46	[{'connected_gene': 'ENSG00000269949', 'score': 14.64}, {'connected_gene': 'RNU6-998P', 'score': 10.79}, {'connected_gene': 'NOA1', 'score': 7.93}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.19}]
chr4	GH04I057034	57034271	57036133	0.38	[{'connected_gene': 'ENSG00000269949', 'score': 22.25}, {'connected_gene': 'RNU6-998P', 'score': 11.66}, {'connected_gene': 'POLR2B', 'score': 11.58}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'UBE2CP3', 'score': 0.28}, {'connected_gene': 'IGFBP7', 'score': 0.18}]