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
ENST00000401070	[[38076950, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097958, 38098025], [38100237, 38100337]]	[[38078426, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
ENST00000373059	[[38076950, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095560, 38095621], [38097958, 38098025], [38100237, 38100337]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095560, 38095573]]
ENST00000401071	[[38076950, 38077355], [38077427, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097958, 38098025], [38100237, 38100337]]	[[38078426, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
ENST00000356545	[[38076950, 38077349], [38077420, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097515, 38097694], [38097958, 38098025], [38100237, 38100491]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
ENST00000401069	[[38077239, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097958, 38098025], [38100237, 38100595]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
ENST00000401068	[[38077483, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097515, 38097694], [38097958, 38098025], [38100237, 38100288]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
NM_001038633	[[38076950, 38077349], [38077420, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097515, 38097694], [38097958, 38098025], [38100237, 38100595]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
NM_001242908	[[38076950, 38077349], [38077420, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097958, 38098025], [38100237, 38100595]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
NM_001242910	[[38076950, 38077349], [38077420, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095621], [38097958, 38098025], [38100237, 38100595]]	[[38078426, 38078593], [38079855, 38080005], [38082155, 38082347], [38095239, 38095333]]
NM_001242909	[[38076950, 38077349], [38077420, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095560, 38095621], [38097958, 38098025], [38100237, 38100595]]	[[38078426, 38078593], [38079375, 38079564], [38079855, 38080005], [38082155, 38082347], [38095560, 38095573]]

Promoter

Chrom	Start	End	Description
chr1	38100497	38100508	CAGE_peak_2_at_RSPO1_5end
chr1	38100539	38100582	CAGE_peak_1_at_RSPO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I037552	37552818	37554929	2.08	[{'connected_gene': 'SNIP1', 'score': 624.04}, {'connected_gene': 'C1orf109', 'score': 51.41}, {'connected_gene': 'SF3A3', 'score': 49.07}, {'connected_gene': 'GNL2', 'score': 42.15}, {'connected_gene': 'FTH1P1', 'score': 30.46}, {'connected_gene': 'YRDC', 'score': 19.59}, {'connected_gene': 'INPP5B', 'score': 15.78}, {'connected_gene': 'CDCA8', 'score': 10.18}, {'connected_gene': 'ZC3H12A', 'score': 10.16}, {'connected_gene': 'RSPO1', 'score': 5.68}, {'connected_gene': 'LINC01137', 'score': 4.49}, {'connected_gene': 'GC01P037546', 'score': 0.44}]
chr1	GH01I037574	37574213	37578162	0.56	[{'connected_gene': 'DNALI1', 'score': 16.38}, {'connected_gene': 'MEAF6', 'score': 13.76}, {'connected_gene': 'CDCA8', 'score': 10.25}, {'connected_gene': 'C1orf109', 'score': 10.25}, {'connected_gene': 'RSPO1', 'score': 5.78}, {'connected_gene': 'GNL2', 'score': 0.37}]
chr1	GH01I037605	37605715	37607000	0.38	[{'connected_gene': 'DNALI1', 'score': 24.06}, {'connected_gene': 'CDCA8', 'score': 10.69}, {'connected_gene': 'C1orf109', 'score': 10.69}, {'connected_gene': 'SNIP1', 'score': 10.4}, {'connected_gene': 'RPS27P9', 'score': 10.4}, {'connected_gene': 'ENSG00000233728', 'score': 9.3}, {'connected_gene': 'ENSG00000284748', 'score': 0.39}, {'connected_gene': 'RSPO1', 'score': 0.31}]
chr1	GH01I037448	37448154	37450413	0.82	[{'connected_gene': 'LINC01137', 'score': 24.46}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.66}, {'connected_gene': 'SNIP1', 'score': 10.66}, {'connected_gene': 'DNALI1', 'score': 10.66}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'MEAF6', 'score': 4.47}, {'connected_gene': 'GC01M037470', 'score': 0.34}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1	GH01I037451	37451804	37453531	0.74	[{'connected_gene': 'LINC01137', 'score': 33.94}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.67}, {'connected_gene': 'SNIP1', 'score': 10.67}, {'connected_gene': 'DNALI1', 'score': 10.67}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'GC01M037470', 'score': 0.37}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1	GH01I037688	37688686	37693558	2.11	[{'connected_gene': 'C1orf109', 'score': 581.46}, {'connected_gene': 'CDCA8', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 43.06}, {'connected_gene': 'EPHA10', 'score': 37.91}, {'connected_gene': 'GNL2', 'score': 29.67}, {'connected_gene': 'FTH1P1', 'score': 21.01}, {'connected_gene': 'RSPO1', 'score': 11.01}, {'connected_gene': 'YRDC', 'score': 10.5}, {'connected_gene': 'DNALI1', 'score': 6.4}, {'connected_gene': 'GC01P037645', 'score': 0.25}]
chr1	GH01I038008	38008280	38017539	2.53	[{'connected_gene': 'UTP11', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 48.63}, {'connected_gene': 'INPP5B', 'score': 47.92}, {'connected_gene': 'SNIP1', 'score': 37.34}, {'connected_gene': 'C1orf109', 'score': 35.84}, {'connected_gene': 'RNU6-510P', 'score': 12.1}, {'connected_gene': 'FTH1P1', 'score': 10.74}, {'connected_gene': 'RSPO1', 'score': 10.27}, {'connected_gene': 'MTF1', 'score': 10.23}, {'connected_gene': 'ENSG00000230955', 'score': 10.23}, {'connected_gene': 'YRDC', 'score': 10.18}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'GNL2', 'score': 9.78}, {'connected_gene': 'CDCA8', 'score': 8.69}, {'connected_gene': 'GC01P038029', 'score': 0.37}]
chr1	GH01I037635	37634633	37634692	0.93	[{'connected_gene': 'RSPO1', 'score': 550.77}, {'connected_gene': 'ENSG00000284748', 'score': 0.28}]
chr1	GH01I037634	37634880	37634939	0.96	[{'connected_gene': 'RSPO1', 'score': 550.77}, {'connected_gene': 'ENSG00000284748', 'score': 0.28}]
chr1	GH01I037988	37988587	37990987	2.16	[{'connected_gene': 'SF3A3', 'score': 676.08}, {'connected_gene': 'RNU6-510P', 'score': 550.77}, {'connected_gene': 'GC01P037993', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 87.66}, {'connected_gene': 'FTH1P1', 'score': 48.77}, {'connected_gene': 'INPP5B', 'score': 46.42}, {'connected_gene': 'GNL2', 'score': 46.21}, {'connected_gene': 'MYCBP', 'score': 44.52}, {'connected_gene': 'FHL3', 'score': 33.56}, {'connected_gene': 'RSPO1', 'score': 28.78}, {'connected_gene': 'RRAGC', 'score': 20.04}, {'connected_gene': 'YRDC', 'score': 19.0}, {'connected_gene': 'DNALI1', 'score': 12.27}, {'connected_gene': 'MEAF6', 'score': 12.08}, {'connected_gene': 'ENSG00000277168', 'score': 0.28}]