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
ENST00000287139	[[72192070, 72192844], [72195041, 72195739], [72201230, 72201423]]	[[72192691, 72192844], [72195041, 72195739], [72201230, 72201423]]
ENST00000414871	[[72192504, 72192844], [72195041, 72195739], [72207679, 72207707]]	[[72192691, 72192844], [72195041, 72195739], [72207679, 72207707]]
NM_018055	[[72191691, 72192844], [72195041, 72195739], [72201230, 72201465]]	[[72192691, 72192844], [72195041, 72195739], [72201230, 72201423]]
NM_001329906	[[72191691, 72192844], [72195041, 72195739], [72207679, 72207704]]	[[72192691, 72192844], [72195041, 72195533]]

Promoter

Chrom	Start	End	Description
chr10	72201370	72201379	CAGE_peak_2_at_NODAL_5end
chr10	72201429	72201443	CAGE_peak_1_at_NODAL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I070342	70342489	70344392	0.52	[{'connected_gene': 'NPFFR1', 'score': 11.49}, {'connected_gene': 'PPA1', 'score': 11.41}, {'connected_gene': 'CALM2P2', 'score': 10.32}, {'connected_gene': 'SAR1A', 'score': 10.32}, {'connected_gene': 'TYSND1', 'score': 10.11}, {'connected_gene': 'NODAL', 'score': 9.35}, {'connected_gene': 'LRRC20', 'score': 6.35}]
chr10	GH10I070456	70456285	70456434	0.46	[{'connected_gene': 'NPFFR1', 'score': 9.42}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'NODAL', 'score': 0.44}]
chr10	GH10I070455	70455147	70455856	0.56	[{'connected_gene': 'NPFFR1', 'score': 9.42}, {'connected_gene': 'EIF4EBP2', 'score': 6.17}, {'connected_gene': 'PALD1', 'score': 0.77}, {'connected_gene': 'NODAL', 'score': 0.44}]
chr10	GH10I070349	70349885	70351027	0.31	[{'connected_gene': 'LRRC20', 'score': 11.68}, {'connected_gene': 'CEP57L1P1', 'score': 11.66}, {'connected_gene': 'NPFFR1', 'score': 11.35}, {'connected_gene': 'SAR1A', 'score': 10.18}, {'connected_gene': 'CALM2P2', 'score': 10.17}, {'connected_gene': 'TYSND1', 'score': 10.16}, {'connected_gene': 'NODAL', 'score': 9.43}]
chr10	GH10I070357	70357345	70359006	1.08	[{'connected_gene': 'LRRC20', 'score': 15.71}, {'connected_gene': 'EIF4EBP2', 'score': 12.03}, {'connected_gene': 'NPFFR1', 'score': 11.15}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 6.86}, {'connected_gene': 'UNC5B-AS1', 'score': 6.17}]
chr10	GH10I070274	70274577	70275147	0.2	[{'connected_gene': 'PPA1', 'score': 11.84}, {'connected_gene': 'AIFM2', 'score': 9.8}, {'connected_gene': 'NODAL', 'score': 9.43}, {'connected_gene': 'NPFFR1', 'score': 0.44}]
chr10	GH10I070322	70322554	70326627	1.57	[{'connected_gene': 'PPA1', 'score': 16.49}, {'connected_gene': 'NPFFR1', 'score': 12.47}, {'connected_gene': 'NODAL', 'score': 9.83}, {'connected_gene': 'LRRC20', 'score': 6.48}]
chr10	GH10I070594	70594745	70594894	0.77	[{'connected_gene': 'NODAL', 'score': 9.54}, {'connected_gene': 'PRF1', 'score': 0.44}, {'connected_gene': 'YY1P1', 'score': 0.14}]
chr10	GH10I070440	70440098	70443417	1.69	[{'connected_gene': 'NODAL', 'score': 592.34}, {'connected_gene': 'EIF4EBP2', 'score': 9.84}, {'connected_gene': 'ENSG00000280401', 'score': 6.77}, {'connected_gene': 'LRRC20', 'score': 4.93}, {'connected_gene': 'PIR41963', 'score': 0.77}]
chr10	GH10I070595	70595125	70598672	1.08	[{'connected_gene': 'NODAL', 'score': 9.54}, {'connected_gene': 'ADAMTS14', 'score': 8.96}, {'connected_gene': 'PCBD1', 'score': 5.12}, {'connected_gene': 'PRF1', 'score': 0.44}, {'connected_gene': 'YY1P1', 'score': 0.14}]
chr10	GH10I070445	70445410	70446510	0.59	[{'connected_gene': 'NODAL', 'score': 559.27}, {'connected_gene': 'PIR41963', 'score': 0.44}]
chr10	GH10I070477	70477530	70480926	2.48	[{'connected_gene': 'PALD1', 'score': 578.31}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.44}]
chr10	GH10I070481	70481661	70483823	1	[{'connected_gene': 'PALD1', 'score': 14.7}, {'connected_gene': 'NODAL', 'score': 10.9}, {'connected_gene': 'PCBD1', 'score': 9.86}, {'connected_gene': 'YY1P1', 'score': 0.77}]
chr10	GH10I070352	70352061	70353298	1.05	[{'connected_gene': 'EIF4EBP2', 'score': 12.01}, {'connected_gene': 'NPFFR1', 'score': 11.16}, {'connected_gene': 'PPA1', 'score': 11.05}, {'connected_gene': 'NODAL', 'score': 5.6}, {'connected_gene': 'LRRC20', 'score': 0.31}]
chr10	GH10I070403	70403448	70406957	2.25	[{'connected_gene': 'EIF4EBP2', 'score': 560.46}, {'connected_gene': 'GC10M070403', 'score': 550.77}, {'connected_gene': 'PIR57459', 'score': 550.77}, {'connected_gene': 'LRRC20', 'score': 12.62}, {'connected_gene': 'PALD1', 'score': 11.21}, {'connected_gene': 'NODAL', 'score': 10.46}]
chr10	GH10I070429	70429950	70433056	1.02	[{'connected_gene': 'EIF4EBP2', 'score': 10.06}, {'connected_gene': 'NODAL', 'score': 8.84}, {'connected_gene': 'PIR35809', 'score': 0.77}, {'connected_gene': 'ENSG00000280401', 'score': 0.77}]
chr10	GH10I070655	70655279	70658260	1.51	[{'connected_gene': 'ADAMTS14', 'score': 28.7}, {'connected_gene': 'PRF1', 'score': 11.88}, {'connected_gene': 'PCBD1', 'score': 10.01}, {'connected_gene': 'NODAL', 'score': 9.54}, {'connected_gene': 'GC10M070611', 'score': 0.26}]
chr10	GH10I070437	70437865	70438014	0.43	[{'connected_gene': 'PIR41963', 'score': 550.77}, {'connected_gene': 'ENSG00000280401', 'score': 0.77}, {'connected_gene': 'NODAL', 'score': 0.39}]