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
ENST00000276420	[[21766383, 21767442], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771371]]	[[21766821, 21767442], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771112]]
ENST00000544659	[[21766384, 21767442], [21768183, 21768368], [21769739, 21770021], [21771049, 21771201]]	[[21766821, 21767442], [21768183, 21768339]]
ENST00000524001	[[21766974, 21767442], [21768183, 21768368], [21769739, 21770078]]	None
ENST00000517422	[[21767125, 21767442], [21768183, 21768368], [21769739, 21770021], [21771049, 21771201]]	[[21768341, 21768368], [21769739, 21770021], [21771049, 21771112]]
ENST00000518197	[[21767145, 21767442], [21768183, 21768368], [21771049, 21771174]]	[[21767145, 21767442], [21768183, 21768339]]
ENST00000523932	[[21767339, 21767420], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771187]]	[[21767339, 21767420], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771112]]
ENST00000522011	[[21767344, 21767442], [21768183, 21768586]]	None
NM_003974	[[21766383, 21767442], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771219]]	[[21766821, 21767442], [21768183, 21768368], [21769411, 21769499], [21769739, 21770021], [21771049, 21771112]]
NM_201349	[[21766383, 21767442], [21768183, 21768368], [21769739, 21770021], [21771049, 21771219]]	[[21766821, 21767442], [21768183, 21768339]]
NM_001317800	[[21766383, 21767442], [21768183, 21768368], [21771049, 21771219]]	[[21766821, 21767442], [21768183, 21768339]]

Promoter

Chrom	Start	End	Description
chr8	21770018	21770055	CAGE_peak_3_at_DOK2_5end
chr8	21771173	21771178	CAGE_peak_2_at_DOK2_5end
chr8	21771182	21771208	CAGE_peak_1_at_DOK2_5end
chr8	21771214	21771223	CAGE_peak_4_at_DOK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I021907	21907528	21915376	2.11	[{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'FGF17', 'score': 17.44}, {'connected_gene': 'NPM2', 'score': 11.35}, {'connected_gene': 'HR', 'score': 11.35}, {'connected_gene': 'GFRA2', 'score': 7.15}, {'connected_gene': 'GC08M021903', 'score': 0.44}]
chr8	GH08I021915	21915390	21915400	0.92	[{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.07}, {'connected_gene': 'FGF17', 'score': 11.05}, {'connected_gene': 'XPO7', 'score': 0.77}]
chr8	GH08I021916	21915410	21915579	0.92	[{'connected_gene': 'DOK2', 'score': 550.77}, {'connected_gene': 'NPM2', 'score': 11.07}, {'connected_gene': 'FGF17', 'score': 11.05}, {'connected_gene': 'XPO7', 'score': 0.77}]
chr8	GH08I021683	21683529	21685183	1.25	[{'connected_gene': 'DOK2', 'score': 1.28}, {'connected_gene': 'GC08P021598', 'score': 0.17}, {'connected_gene': 'PIR47014', 'score': 0.14}]
chr8	GH08I021917	21917950	21922279	2.36	[{'connected_gene': 'XPO7', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 26.09}, {'connected_gene': 'BIN3', 'score': 24.94}, {'connected_gene': 'FGF17', 'score': 16.85}, {'connected_gene': 'FAM160B2', 'score': 13.78}, {'connected_gene': 'NPM2', 'score': 13.25}, {'connected_gene': 'C8orf58', 'score': 10.53}, {'connected_gene': 'POLR3D', 'score': 9.95}, {'connected_gene': 'GFRA2', 'score': 8.38}, {'connected_gene': 'DMTN', 'score': 5.33}, {'connected_gene': 'DOK2', 'score': 1.55}, {'connected_gene': 'PHYHIP', 'score': 1.29}, {'connected_gene': 'GC08P021924', 'score': 0.77}]
chr8	GH08I022190	22190500	22195137	1.42	[{'connected_gene': 'LOC105379319', 'score': 550.77}, {'connected_gene': 'BMP1', 'score': 17.31}, {'connected_gene': 'PPP3CC', 'score': 5.91}, {'connected_gene': 'XPO7', 'score': 5.19}, {'connected_gene': 'DOK2', 'score': 1.47}, {'connected_gene': 'PHYHIP', 'score': 0.28}]
chr8	GH08I021905	21905250	21906599	0.84	[{'connected_gene': 'GC08M021903', 'score': 550.77}, {'connected_gene': 'GFRA2', 'score': 7.86}, {'connected_gene': 'DOK2', 'score': 0.44}]