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
ENST00000243997	[[57600521, 57603896], [57605357, 57605484], [57607274, 57607437]]	[[57605360, 57605484], [57607274, 57607306]]
ENST00000395663	[[57601027, 57601524], [57605357, 57605484], [57607274, 57607347]]	[[57605360, 57605484], [57607274, 57607306]]
ENST00000395659	[[57603732, 57605484], [57607274, 57607400]]	[[57605360, 57605484], [57607274, 57607306]]

Promoter

Chrom	Start	End	Description
chr20	57607351	57607418	CAGE_peak_1_at_ATP5E_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I058989	58989130	58992418	0.75	[{'connected_gene': 'NELFCD', 'score': 47.46}, {'connected_gene': 'ATP5F1E', 'score': 11.76}, {'connected_gene': 'PRELID3B', 'score': 11.72}, {'connected_gene': 'LOC101927932', 'score': 11.28}, {'connected_gene': 'GNAS', 'score': 11.23}, {'connected_gene': 'CTSZ', 'score': 9.41}, {'connected_gene': 'GC20M058985', 'score': 0.77}]
chr20	GH20I059027	59027462	59028002	0.54	[{'connected_gene': 'NELFCD', 'score': 5.86}, {'connected_gene': 'ATP5F1E', 'score': 0.77}, {'connected_gene': 'TUBB1', 'score': 0.44}]
chr20	GH20I058998	58998955	59000001	0.59	[{'connected_gene': 'NELFCD', 'score': 30.41}, {'connected_gene': 'ATP5F1E', 'score': 11.7}, {'connected_gene': 'CTSZ', 'score': 10.1}, {'connected_gene': 'GC20M058985', 'score': 0.39}]
chr20	GH20I059022	59022520	59024891	0.52	[{'connected_gene': 'NELFCD', 'score': 18.46}, {'connected_gene': 'TUBB1', 'score': 0.77}, {'connected_gene': 'ATP5F1E', 'score': 0.44}]
chr20	GH20I058995	58995453	58996786	1.06	[{'connected_gene': 'ATP5F1E', 'score': 11.68}, {'connected_gene': 'NELFCD', 'score': 10.6}, {'connected_gene': 'CTSZ', 'score': 9.55}, {'connected_gene': 'GC20M058985', 'score': 0.44}]
chr20	GH20I058993	58993666	58993795	0.77	[{'connected_gene': 'ATP5F1E', 'score': 11.68}, {'connected_gene': 'GC20M058985', 'score': 0.44}, {'connected_gene': 'NELFCD', 'score': 0.39}, {'connected_gene': 'CTSZ', 'score': 0.39}]
chr20	GH20I059002	59002726	59002875	0.58	[{'connected_gene': 'ATP5F1E', 'score': 11.72}, {'connected_gene': 'NELFCD', 'score': 5.3}, {'connected_gene': 'CTSZ', 'score': 0.77}, {'connected_gene': 'GC20M058985', 'score': 0.37}]
chr20	GH20I059030	59030918	59033457	2.09	[{'connected_gene': 'ATP5F1E', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 36.49}, {'connected_gene': 'LOC101927932', 'score': 24.01}, {'connected_gene': 'PPP4R1L', 'score': 12.81}, {'connected_gene': 'STX16', 'score': 11.8}, {'connected_gene': 'ENSG00000254419', 'score': 10.48}, {'connected_gene': 'PRELID3B', 'score': 10.43}, {'connected_gene': 'SLMO2-ATP5E', 'score': 0.39}, {'connected_gene': 'TUBB1', 'score': 0.39}]
chr20	GH20I059028	59028046	59028195	0.43	[{'connected_gene': 'ATP5F1E', 'score': 0.77}, {'connected_gene': 'TUBB1', 'score': 0.44}]
chr20	GH20I059039	59039791	59044579	2.24	[{'connected_gene': 'PRELID3B', 'score': 557.51}, {'connected_gene': 'SLMO2-ATP5E', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 34.56}, {'connected_gene': 'PPP4R1L', 'score': 12.69}, {'connected_gene': 'ZNF831', 'score': 11.19}, {'connected_gene': 'LOC101927932', 'score': 10.87}, {'connected_gene': 'GNAS', 'score': 10.84}, {'connected_gene': 'ENSG00000254419', 'score': 9.79}, {'connected_gene': 'ATP5F1E', 'score': 0.44}]
chr20	GH20I059020	59020631	59021692	1.57	[{'connected_gene': 'TUBB1', 'score': 550.77}, {'connected_gene': 'ATP5F1E', 'score': 0.39}]
chr20	GH20I059003	59003026	59009077	2.2	[{'connected_gene': 'CTSZ', 'score': 563.78}, {'connected_gene': 'NELFCD', 'score': 31.71}, {'connected_gene': 'ATP5F1E', 'score': 12.7}, {'connected_gene': 'LOC101927932', 'score': 11.6}, {'connected_gene': 'GNAS', 'score': 11.57}, {'connected_gene': 'GC20M058985', 'score': 0.37}]
chr20	GH20I058987	58987820	58989115	0.49	[{'connected_gene': 'GC20M058985', 'score': 550.77}, {'connected_gene': 'NELFCD', 'score': 30.28}, {'connected_gene': 'ATP5F1E', 'score': 11.76}, {'connected_gene': 'CTSZ', 'score': 0.37}]