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
ENST00000556931	[[155036223, 155036412], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155059278]]	[[155036299, 155036412], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155059019]]
ENST00000368408	[[155051347, 155051545], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155060014]]	[[155051417, 155051545], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155059019]]
ENST00000418360	[[155051384, 155051545], [155057566, 155057880], [155058352, 155058418], [155058888, 155059382]]	[[155051417, 155051545], [155057566, 155057880], [155058352, 155058418], [155058888, 155059019]]
ENST00000470294	[[155057991, 155058118], [155058352, 155058418], [155058888, 155059458]]	None
ENST00000498667	[[155057997, 155058118], [155058352, 155058418], [155058603, 155058681], [155058888, 155059399]]	None
NM_004952	[[155051347, 155051545], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155060014]]	[[155051417, 155051545], [155057566, 155057880], [155058352, 155058418], [155058603, 155058681], [155058888, 155059019]]

Promoter

Chrom	Start	End	Description
chr1	155036204	155036238	CAGE_peak_1_at_EFNA3_5end,CAGE_peak_1_at_EFNA4_5end
chr1	155051305	155051367	CAGE_peak_2_at_EFNA3_5end
chr1	155051379	155051390	CAGE_peak_7_at_EFNA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I155075	155075520	155076048	0.72	[{'connected_gene': 'UBAP2L', 'score': 15.69}, {'connected_gene': 'GON4L', 'score': 14.4}, {'connected_gene': 'KHDC4', 'score': 13.29}, {'connected_gene': 'ENSG00000271267', 'score': 11.19}, {'connected_gene': 'THBS3', 'score': 9.87}, {'connected_gene': 'ADAM15', 'score': 4.88}, {'connected_gene': 'EFNA3', 'score': 0.77}, {'connected_gene': 'ENSG00000251246', 'score': 0.39}, {'connected_gene': 'DCST1-AS1', 'score': 0.39}]
chr1	GH01I154995	154995800	154996001	1.17	[{'connected_gene': 'PYGO2', 'score': 11.78}, {'connected_gene': 'ADAM15', 'score': 11.17}, {'connected_gene': 'DCST1-AS1', 'score': 11.14}, {'connected_gene': 'ENSG00000251246', 'score': 10.52}, {'connected_gene': 'EFNA4', 'score': 10.52}, {'connected_gene': 'EFNA3', 'score': 10.49}, {'connected_gene': 'UBE2Q1', 'score': 10.44}, {'connected_gene': 'CHRNB2', 'score': 10.44}, {'connected_gene': 'ADAR', 'score': 9.52}, {'connected_gene': 'GC01M154997', 'score': 0.77}, {'connected_gene': 'LENEP', 'score': 0.77}]
chr1	GH01I155069	155069438	155072213	1.37	[{'connected_gene': 'ADAM15', 'score': 18.43}, {'connected_gene': 'GBAP1', 'score': 14.79}, {'connected_gene': 'THBS3', 'score': 5.66}, {'connected_gene': 'POU5F1P4', 'score': 4.61}, {'connected_gene': 'EFNA3', 'score': 0.44}, {'connected_gene': 'ENSG00000251246', 'score': 0.44}, {'connected_gene': 'DCST1-AS1', 'score': 0.44}, {'connected_gene': 'EFNA4', 'score': 0.44}]
chr1	GH01I155116	155116094	155117304	0.31	[{'connected_gene': 'ADAM15', 'score': 14.96}, {'connected_gene': 'GBAP1', 'score': 14.74}, {'connected_gene': 'DCST1-AS1', 'score': 10.93}, {'connected_gene': 'GC01P155124', 'score': 0.77}, {'connected_gene': 'EFNA3', 'score': 0.28}]
chr1	GH01I155072	155072980	155074217	0.43	[{'connected_gene': 'ADAM15', 'score': 16.07}, {'connected_gene': 'EFNA3', 'score': 0.44}, {'connected_gene': 'DCST1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000251246', 'score': 0.44}]
chr1	GH01I155084	155084020	155086534	1.78	[{'connected_gene': 'THBS3', 'score': 20.77}, {'connected_gene': 'ADAM15', 'score': 17.47}, {'connected_gene': 'UBAP2L', 'score': 15.69}, {'connected_gene': 'GON4L', 'score': 14.4}, {'connected_gene': 'KHDC4', 'score': 13.29}, {'connected_gene': 'EFNA1', 'score': 12.82}, {'connected_gene': 'SLC50A1', 'score': 11.92}, {'connected_gene': 'ENSG00000271267', 'score': 11.19}, {'connected_gene': 'KRTCAP2', 'score': 11.06}, {'connected_gene': 'MUC1', 'score': 11.03}, {'connected_gene': 'ENSG00000231064', 'score': 11.03}, {'connected_gene': 'MTX1', 'score': 11.02}, {'connected_gene': 'DCST1-AS1', 'score': 11.0}, {'connected_gene': 'GBAP1', 'score': 9.95}, {'connected_gene': 'DAP3', 'score': 4.72}, {'connected_gene': 'PBXIP1', 'score': 4.34}, {'connected_gene': 'EFNA3', 'score': 0.44}, {'connected_gene': 'ENSG00000251246', 'score': 0.34}, {'connected_gene': 'GC01P155124', 'score': 0.28}]
chr1	GH01I155021	155021377	155021949	0.31	[{'connected_gene': 'ZBTB7B', 'score': 15.63}, {'connected_gene': 'ADAM15', 'score': 12.25}, {'connected_gene': 'DCST1-AS1', 'score': 12.2}, {'connected_gene': 'LENEP', 'score': 11.04}, {'connected_gene': 'FLAD1', 'score': 11.0}, {'connected_gene': 'ENSG00000251246', 'score': 10.93}, {'connected_gene': 'EFNA4', 'score': 10.93}, {'connected_gene': 'EFNA3', 'score': 10.89}, {'connected_gene': 'PYGO2', 'score': 10.57}, {'connected_gene': 'CHRNB2', 'score': 10.23}, {'connected_gene': 'UBE2Q1', 'score': 10.23}, {'connected_gene': 'DCST2', 'score': 10.07}]
chr1	GH01I155026	155026705	155026854	0.67	[{'connected_gene': 'ZBTB7B', 'score': 11.15}, {'connected_gene': 'FLAD1', 'score': 11.08}, {'connected_gene': 'PYGO2', 'score': 11.06}, {'connected_gene': 'ENSG00000251246', 'score': 10.9}, {'connected_gene': 'EFNA4', 'score': 10.9}, {'connected_gene': 'EFNA3', 'score': 10.86}, {'connected_gene': 'CHRNB2', 'score': 9.83}, {'connected_gene': 'UBE2Q1', 'score': 9.83}, {'connected_gene': 'UBE2Q1-AS1', 'score': 9.29}, {'connected_gene': 'DCST2', 'score': 0.44}]
chr1	GH01I155025	155025246	155025644	0.79	[{'connected_gene': 'ZBTB7B', 'score': 11.15}, {'connected_gene': 'FLAD1', 'score': 11.08}, {'connected_gene': 'PYGO2', 'score': 11.06}, {'connected_gene': 'ENSG00000251246', 'score': 10.9}, {'connected_gene': 'EFNA4', 'score': 10.9}, {'connected_gene': 'EFNA3', 'score': 10.86}, {'connected_gene': 'CHRNB2', 'score': 9.83}, {'connected_gene': 'UBE2Q1', 'score': 9.83}, {'connected_gene': 'UBE2Q1-AS1', 'score': 9.29}, {'connected_gene': 'DCST2', 'score': 0.44}]
chr1	GH01I155010	155010167	155014454	1.1	[{'connected_gene': 'ZBTB7B', 'score': 15.0}, {'connected_gene': 'FLAD1', 'score': 11.71}, {'connected_gene': 'ADAM15', 'score': 11.68}, {'connected_gene': 'DCST1-AS1', 'score': 11.63}, {'connected_gene': 'PYGO2', 'score': 11.23}, {'connected_gene': 'ENSG00000251246', 'score': 10.74}, {'connected_gene': 'EFNA4', 'score': 10.74}, {'connected_gene': 'EFNA3', 'score': 10.71}, {'connected_gene': 'DCST2', 'score': 7.98}, {'connected_gene': 'SHC1', 'score': 6.21}]
chr1	GH01I154940	154940001	154946025	1.7	[{'connected_gene': 'KCNN3', 'score': 20.78}, {'connected_gene': 'EFNA3', 'score': 5.39}, {'connected_gene': 'MSTO2P', 'score': 4.34}, {'connected_gene': 'RUSC1', 'score': 3.76}, {'connected_gene': 'PMVK', 'score': 2.71}, {'connected_gene': 'ADAR', 'score': 2.68}, {'connected_gene': 'CLK2', 'score': 1.72}, {'connected_gene': 'RUSC1-AS1', 'score': 1.31}, {'connected_gene': 'GC01M154946', 'score': 0.77}, {'connected_gene': 'ENSG00000270361', 'score': 0.44}, {'connected_gene': 'PBXIP1', 'score': 0.39}]
chr1	GH01I155081	155081656	155083846	1.25	[{'connected_gene': 'GBAP1', 'score': 12.6}, {'connected_gene': 'ADAM15', 'score': 8.46}, {'connected_gene': 'THBS3', 'score': 4.62}, {'connected_gene': 'EFNA3', 'score': 0.77}, {'connected_gene': 'ENSG00000251246', 'score': 0.37}, {'connected_gene': 'GC01P155124', 'score': 0.28}]
chr1	GH01I155106	155106713	155109131	1.04	[{'connected_gene': 'GBAP1', 'score': 14.44}, {'connected_gene': 'SLC50A1', 'score': 11.93}, {'connected_gene': 'POU5F1P4', 'score': 4.66}, {'connected_gene': 'GC01P155124', 'score': 0.39}, {'connected_gene': 'EFNA3', 'score': 0.31}]
chr1	GH01I155105	155105486	155106033	0.9	[{'connected_gene': 'GBAP1', 'score': 14.2}, {'connected_gene': 'SLC50A1', 'score': 11.93}, {'connected_gene': 'GC01P155124', 'score': 0.39}, {'connected_gene': 'EFNA3', 'score': 0.31}]
chr1	GH01I155101	155101921	155102979	1.07	[{'connected_gene': 'GBAP1', 'score': 14.05}, {'connected_gene': 'GC01P155124', 'score': 0.37}, {'connected_gene': 'EFNA3', 'score': 0.34}]
chr1	GH01I155114	155114952	155116026	0.2	[{'connected_gene': 'GBAP1', 'score': 15.02}, {'connected_gene': 'DCST1-AS1', 'score': 10.93}, {'connected_gene': 'ADAM15', 'score': 10.9}, {'connected_gene': 'GC01P155124', 'score': 0.44}, {'connected_gene': 'EFNA3', 'score': 0.28}]
chr1	GH01I155078	155078271	155079001	2.06	[{'connected_gene': 'EFNA3', 'score': 550.77}, {'connected_gene': 'DCST1-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000251246', 'score': 0.39}]
chr1	GH01I155091	155091167	155092062	1.19	[{'connected_gene': 'EFNA1', 'score': 12.83}, {'connected_gene': 'SLC50A1', 'score': 11.95}, {'connected_gene': 'KRTCAP2', 'score': 11.07}, {'connected_gene': 'MUC1', 'score': 11.04}, {'connected_gene': 'ENSG00000231064', 'score': 11.04}, {'connected_gene': 'MTX1', 'score': 11.02}, {'connected_gene': 'THBS3', 'score': 11.02}, {'connected_gene': 'DCST1-AS1', 'score': 10.97}, {'connected_gene': 'ADAM15', 'score': 10.92}, {'connected_gene': 'EFNA3', 'score': 0.39}, {'connected_gene': 'GC01P155124', 'score': 0.31}]
chr1	GH01I155094	155094201	155094654	1.22	[{'connected_gene': 'EFNA1', 'score': 12.87}, {'connected_gene': 'ENSG00000251246', 'score': 11.8}, {'connected_gene': 'EFNA4', 'score': 11.8}, {'connected_gene': 'SLC50A1', 'score': 11.73}, {'connected_gene': 'KRTCAP2', 'score': 11.58}, {'connected_gene': 'MUC1', 'score': 11.55}, {'connected_gene': 'ENSG00000231064', 'score': 11.54}, {'connected_gene': 'MTX1', 'score': 11.53}, {'connected_gene': 'THBS3', 'score': 11.53}, {'connected_gene': 'TRIM46', 'score': 11.33}, {'connected_gene': 'DCST1-AS1', 'score': 11.07}, {'connected_gene': 'ADAM15', 'score': 11.04}, {'connected_gene': 'EFNA3', 'score': 0.37}, {'connected_gene': 'GC01P155124', 'score': 0.31}]
chr1	GH01I155080	155080593	155081372	1.16	[{'connected_gene': 'LOC101928120', 'score': 20.89}, {'connected_gene': 'PYGO2', 'score': 15.3}, {'connected_gene': 'UBAP2L', 'score': 12.91}, {'connected_gene': 'GBAP1', 'score': 12.66}, {'connected_gene': 'ASH1L', 'score': 10.9}, {'connected_gene': 'MSTO2P', 'score': 10.29}, {'connected_gene': 'FAM189B', 'score': 10.0}, {'connected_gene': 'EFNA3', 'score': 0.77}, {'connected_gene': 'ENSG00000251246', 'score': 0.37}, {'connected_gene': 'GC01P155124', 'score': 0.28}]
chr1	GH01I155104	155104676	155105225	0.8	[{'connected_gene': 'GC01P155124', 'score': 0.37}, {'connected_gene': 'EFNA3', 'score': 0.31}]
chr1	GH01I155119	155119844	155120837	0.9	[{'connected_gene': 'GC01P155124', 'score': 550.77}, {'connected_gene': 'ENSG00000202027', 'score': 550.77}, {'connected_gene': 'DCST1-AS1', 'score': 10.92}, {'connected_gene': 'ADAM15', 'score': 10.9}, {'connected_gene': 'EFNA3', 'score': 0.26}]