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
ENST00000372587	[[41944445, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949874], [41950208, 41950342]]	[[41945079, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949874], [41950208, 41950272]]
ENST00000490783	[[41944797, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949783], [41950208, 41950344]]	None
ENST00000467872	[[41945124, 41945173], [41946765, 41946864], [41948136, 41948259], [41949420, 41949472], [41949717, 41949756]]	None
ENST00000467046	[[41945124, 41945173], [41948136, 41948259], [41948580, 41948749], [41949420, 41949472], [41949717, 41949756]]	None
ENST00000460255	[[41945124, 41945173], [41946371, 41946546], [41946765, 41946864], [41948136, 41948259], [41949717, 41949756]]	None
NM_001956	[[41944445, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949874], [41950208, 41950354]]	[[41945079, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949874], [41950208, 41950272]]
NM_001302269	[[41944445, 41945173], [41948136, 41948259], [41949717, 41949874], [41950208, 41950354]]	[[41945079, 41945173], [41948136, 41948259], [41949717, 41949874], [41950208, 41950272]]
NR_126098	[[41944445, 41945173], [41946765, 41946864], [41948136, 41948259], [41949717, 41949783], [41950208, 41950354]]	None

Promoter

Chrom	Start	End	Description
chr1	41950351	41950357	CAGE_peak_1_at_EDN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I041492	41492570	41504873	1.74	[{'connected_gene': 'EXO5', 'score': 35.08}, {'connected_gene': 'FOXJ3', 'score': 28.28}, {'connected_gene': 'EDN2', 'score': 13.81}, {'connected_gene': 'ENSG00000230881', 'score': 11.91}, {'connected_gene': 'LOC100418723', 'score': 11.9}, {'connected_gene': 'RIMS3', 'score': 10.21}, {'connected_gene': 'LOC101929901', 'score': 10.1}, {'connected_gene': 'GC01M041492', 'score': 0.44}, {'connected_gene': 'GC01M041516', 'score': 0.37}]
chr1	GH01I042333	42333201	42337730	2.14	[{'connected_gene': 'FOXJ3', 'score': 568.35}, {'connected_gene': 'GC01P042336', 'score': 550.77}, {'connected_gene': 'GC01P042337', 'score': 550.77}, {'connected_gene': 'CCDC30', 'score': 30.13}, {'connected_gene': 'P3H1', 'score': 20.52}, {'connected_gene': 'PPIH', 'score': 19.45}, {'connected_gene': 'CLDN19', 'score': 10.41}, {'connected_gene': 'GUCA2B', 'score': 10.34}, {'connected_gene': 'RNU6-536P', 'score': 9.85}, {'connected_gene': 'ENSG00000236180', 'score': 9.85}, {'connected_gene': 'LOC105378683', 'score': 9.73}, {'connected_gene': 'YBX1', 'score': 9.5}, {'connected_gene': 'EDN2', 'score': 4.3}, {'connected_gene': 'ENSG00000227527', 'score': 0.77}, {'connected_gene': 'GC01M042316', 'score': 0.31}, {'connected_gene': 'GC01M042279', 'score': 0.22}, {'connected_gene': 'PIR49391', 'score': 0.22}]
chr1	GH01I041417	41417001	41420372	1.53	[{'connected_gene': 'EDN2', 'score': 1.59}, {'connected_gene': 'LOC105378678', 'score': 0.39}, {'connected_gene': 'LOC101929901', 'score': 0.28}]
chr1	GH01I041448	41448435	41451749	1	[{'connected_gene': 'EDN2', 'score': 11.71}, {'connected_gene': 'LOC101929901', 'score': 10.79}, {'connected_gene': 'ENSG00000230881', 'score': 9.25}, {'connected_gene': 'LOC100418723', 'score': 9.24}, {'connected_gene': 'HIVEP3', 'score': 2.02}, {'connected_gene': 'SCMH1', 'score': 1.8}, {'connected_gene': 'GC01P041454', 'score': 0.77}, {'connected_gene': 'LOC105378678', 'score': 0.37}]
chr1	GH01I041452	41452293	41452529	0.2	[{'connected_gene': 'EDN2', 'score': 11.5}, {'connected_gene': 'LOC101929901', 'score': 10.25}, {'connected_gene': 'ENSG00000230881', 'score': 9.26}, {'connected_gene': 'LOC100418723', 'score': 9.25}, {'connected_gene': 'GC01P041454', 'score': 0.77}, {'connected_gene': 'LOC105378678', 'score': 0.37}]
chr1	GH01I041461	41461673	41463252	0.63	[{'connected_gene': 'EDN2', 'score': 12.13}, {'connected_gene': 'LOC101929901', 'score': 10.66}, {'connected_gene': 'ENSG00000230881', 'score': 10.55}, {'connected_gene': 'LOC100418723', 'score': 10.54}, {'connected_gene': 'FOXO6', 'score': 6.05}, {'connected_gene': 'RNA5SP45', 'score': 0.77}, {'connected_gene': 'GC01P041454', 'score': 0.44}, {'connected_gene': 'LOC105378678', 'score': 0.31}]
chr1	GH01I041483	41483869	41488137	2	[{'connected_gene': 'EDN2', 'score': 570.6}, {'connected_gene': 'GC01M041492', 'score': 0.44}]
chr1	GH01I041482	41482948	41483863	0.66	[{'connected_gene': 'EDN2', 'score': 550.77}, {'connected_gene': 'GC01M041472', 'score': 550.77}]
chr1	GH01I041432	41432028	41433600	1.37	[{'connected_gene': 'LOC105378678', 'score': 550.77}, {'connected_gene': 'LOC101929901', 'score': 11.24}, {'connected_gene': 'EDN2', 'score': 10.88}, {'connected_gene': 'ENSG00000230881', 'score': 10.11}, {'connected_gene': 'LOC100418723', 'score': 10.1}, {'connected_gene': 'FOXO6', 'score': 5.76}]
chr1	GH01I041344	41344046	41346016	0.63	[{'connected_gene': 'LOC101929901', 'score': 12.21}, {'connected_gene': 'EDN2', 'score': 10.59}, {'connected_gene': 'SLFNL1', 'score': 4.81}, {'connected_gene': 'FOXO6', 'score': 0.37}, {'connected_gene': 'RPL36AP9', 'score': 0.18}]
chr1	GH01I041442	41442265	41443546	0.43	[{'connected_gene': 'LOC101929901', 'score': 11.32}, {'connected_gene': 'EDN2', 'score': 10.98}, {'connected_gene': 'LOC105378678', 'score': 0.44}, {'connected_gene': 'GC01P041454', 'score': 0.39}]
chr1	GH01I041434	41434890	41437836	0.84	[{'connected_gene': 'LOC101929901', 'score': 11.23}, {'connected_gene': 'EDN2', 'score': 10.9}, {'connected_gene': 'ENSG00000230881', 'score': 10.12}, {'connected_gene': 'LOC100418723', 'score': 10.1}, {'connected_gene': 'LOC105378678', 'score': 0.77}, {'connected_gene': 'GC01P041454', 'score': 0.37}]
chr1	GH01I041438	41438771	41440456	0.6	[{'connected_gene': 'LOC101929901', 'score': 11.33}, {'connected_gene': 'EDN2', 'score': 10.96}, {'connected_gene': 'ENSG00000230881', 'score': 10.74}, {'connected_gene': 'LOC100418723', 'score': 10.73}, {'connected_gene': 'LOC105378678', 'score': 0.44}, {'connected_gene': 'GC01P041454', 'score': 0.39}]
chr1	GH01I041341	41341485	41342786	1.26	[{'connected_gene': 'LOC101929901', 'score': 12.21}, {'connected_gene': 'EDN2', 'score': 10.58}, {'connected_gene': 'FOXO6', 'score': 6.84}, {'connected_gene': 'SLFNL1', 'score': 5.01}, {'connected_gene': 'SCMH1', 'score': 4.62}, {'connected_gene': 'RPL36AP9', 'score': 0.18}]
chr1	GH01I041409	41409726	41410428	0.2	[{'connected_gene': 'LOC101929901', 'score': 17.37}, {'connected_gene': 'FOXO6', 'score': 11.98}, {'connected_gene': 'EDN2', 'score': 10.48}, {'connected_gene': 'LOC105378678', 'score': 0.34}]
chr1	GH01I041412	41412801	41413000	0.72	[{'connected_gene': 'LOC101929901', 'score': 12.2}, {'connected_gene': 'FOXO6', 'score': 11.96}, {'connected_gene': 'EDN2', 'score': 10.48}, {'connected_gene': 'LOC105378678', 'score': 0.34}]
chr1	GH01I041386	41386128	41388659	1.01	[{'connected_gene': 'FOXO6', 'score': 22.78}, {'connected_gene': 'ZFP69', 'score': 12.99}, {'connected_gene': 'EDN2', 'score': 9.87}, {'connected_gene': 'LOC101929901', 'score': 6.43}, {'connected_gene': 'LOC105378678', 'score': 0.25}]
chr1	GH01I041318	41318920	41321032	0.43	[{'connected_gene': 'FOXO6', 'score': 17.81}, {'connected_gene': 'LOC101929901', 'score': 11.87}, {'connected_gene': 'EDN2', 'score': 10.5}, {'connected_gene': 'SLFNL1', 'score': 5.01}, {'connected_gene': 'SCMH1', 'score': 4.55}, {'connected_gene': 'RPL36AP9', 'score': 0.22}, {'connected_gene': 'LOC102723924', 'score': 0.18}]
chr1	GH01I041415	41415133	41416568	0.82	[{'connected_gene': 'FOXO6', 'score': 17.36}, {'connected_gene': 'LOC101929901', 'score': 12.2}, {'connected_gene': 'EDN2', 'score': 11.5}, {'connected_gene': 'LOC105378678', 'score': 0.37}]
chr1	GH01I041331	41331136	41331725	0.65	[{'connected_gene': 'FOXO6', 'score': 17.19}, {'connected_gene': 'LOC101929901', 'score': 11.55}, {'connected_gene': 'EDN2', 'score': 10.31}, {'connected_gene': 'ENSG00000230881', 'score': 9.44}, {'connected_gene': 'LOC100418723', 'score': 9.43}, {'connected_gene': 'SLFNL1', 'score': 4.96}, {'connected_gene': 'RPL36AP9', 'score': 0.2}, {'connected_gene': 'LOC102723924', 'score': 0.17}]
chr1	GH01I041305	41305913	41306474	0.2	[{'connected_gene': 'FOXO6', 'score': 17.47}, {'connected_gene': 'LOC101929901', 'score': 11.31}, {'connected_gene': 'EDN2', 'score': 10.38}, {'connected_gene': 'RPL36AP9', 'score': 0.26}, {'connected_gene': 'LOC102723924', 'score': 0.21}]
chr1	GH01I041342	41341295	41341338	0.84	[{'connected_gene': 'FOXO6', 'score': 13.38}, {'connected_gene': 'LOC101929901', 'score': 12.21}, {'connected_gene': 'EDN2', 'score': 10.58}, {'connected_gene': 'RPL36AP9', 'score': 0.18}]
chr1	GH01I041481	41481908	41482627	0.64	[{'connected_gene': 'GC01M041472', 'score': 550.77}, {'connected_gene': 'EDN2', 'score': 0.77}]
chr1	GH01I041490	41490188	41491860	0.43	[{'connected_gene': 'ENSG00000230881', 'score': 11.17}, {'connected_gene': 'LOC100418723', 'score': 11.14}, {'connected_gene': 'RIMS3', 'score': 10.22}, {'connected_gene': 'LOC101929901', 'score': 10.1}, {'connected_gene': 'EDN2', 'score': 6.22}, {'connected_gene': 'GC01M041492', 'score': 0.77}]
chr1	GH01I041493	41492370	41492539	0.65	[{'connected_gene': 'GC01M041492', 'score': 550.77}, {'connected_gene': 'ENSG00000230881', 'score': 11.17}, {'connected_gene': 'LOC100418723', 'score': 11.15}, {'connected_gene': 'EDN2', 'score': 4.86}, {'connected_gene': 'NFYC', 'score': 4.85}]
chr1	GH01I041479	41478172	41478791	0.31	[{'connected_gene': 'ENSG00000230881', 'score': 9.7}, {'connected_gene': 'LOC100418723', 'score': 9.69}, {'connected_gene': 'GC01M041472', 'score': 0.77}, {'connected_gene': 'EDN2', 'score': 0.44}, {'connected_gene': 'RNA5SP45', 'score': 0.39}]
chr1	GH01I041478	41478871	41480041	0.43	[{'connected_gene': 'ENSG00000230881', 'score': 10.31}, {'connected_gene': 'LOC100418723', 'score': 10.3}, {'connected_gene': 'GC01M041472', 'score': 0.77}, {'connected_gene': 'EDN2', 'score': 0.44}, {'connected_gene': 'RNA5SP45', 'score': 0.39}]
chr1	GH01I041454	41454023	41455663	0.58	[{'connected_gene': 'GC01P041454', 'score': 550.77}, {'connected_gene': 'NFYC-AS1', 'score': 11.72}, {'connected_gene': 'EDN2', 'score': 11.51}, {'connected_gene': 'LOC101929901', 'score': 10.25}, {'connected_gene': 'ENSG00000230881', 'score': 9.26}, {'connected_gene': 'LOC100418723', 'score': 9.25}, {'connected_gene': 'RNA5SP45', 'score': 0.39}, {'connected_gene': 'LOC105378678', 'score': 0.34}]
chr1	GH01I041455	41455801	41456201	0.76	[{'connected_gene': 'GC01P041454', 'score': 550.77}, {'connected_gene': 'NFYC-AS1', 'score': 11.72}, {'connected_gene': 'EDN2', 'score': 11.51}, {'connected_gene': 'LOC101929901', 'score': 10.24}, {'connected_gene': 'ENSG00000230881', 'score': 9.27}, {'connected_gene': 'LOC100418723', 'score': 9.25}, {'connected_gene': 'RNA5SP45', 'score': 0.39}, {'connected_gene': 'LOC105378678', 'score': 0.34}]