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
ENST00000539573	[[4758260, 4758341], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777704]]	None
ENST00000266544	[[4758272, 4758341], [4763457, 4763628], [4763990, 4764088], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777690], [4778906, 4778983], [4791370, 4791466], [4794424, 4794491], [4796103, 4798454]]	[[4758292, 4758341], [4763457, 4763628], [4763990, 4764088], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777690], [4778906, 4778983], [4791370, 4791466], [4794424, 4794491], [4796103, 4796274]]
ENST00000542369	[[4758280, 4758341], [4763457, 4763628], [4763990, 4764088], [4764898, 4765116]]	None
ENST00000396655	[[4758282, 4758341], [4763457, 4763628], [4763990, 4764088], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4776702, 4776820], [4777622, 4777876]]	None
ENST00000544679	[[4758284, 4758341], [4763457, 4763628], [4763990, 4764544]]	None
ENST00000535050	[[4762666, 4762844], [4763457, 4763628], [4763990, 4764088], [4766913, 4766978]]	[[4762729, 4762844], [4763457, 4763628], [4763990, 4764088], [4766913, 4766978]]
ENST00000535726	[[4766339, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777641]]	None
ENST00000544675	[[4766538, 4767005], [4768201, 4768343], [4777622, 4777690], [4778906, 4778983], [4791370, 4791473]]	None
ENST00000540688	[[4794145, 4794491], [4796103, 4796399]]	[[4794251, 4794491], [4796103, 4796274]]
NM_005002	[[4758263, 4758341], [4763457, 4763628], [4763990, 4764088], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777690], [4778906, 4778983], [4791370, 4791466], [4794424, 4794491], [4796103, 4796720]]	[[4758292, 4758341], [4763457, 4763628], [4763990, 4764088], [4766913, 4767005], [4768201, 4768343], [4771698, 4771801], [4777622, 4777690], [4778906, 4778983], [4791370, 4791466], [4794424, 4794491], [4796103, 4796274]]

Promoter

Chrom	Start	End	Description
chr12	4714050	4714139	CAGE_peak_1_at_DYRK4_5end,CAGE_peak_1_at_NDUFA9_5end
chr12	4758264	4758314	CAGE_peak_2_at_NDUFA9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I004663	4663451	4665042	0.54	[{'connected_gene': 'DYRK4', 'score': 13.66}, {'connected_gene': 'GALNT8', 'score': 10.73}, {'connected_gene': 'LOC101929549', 'score': 10.73}, {'connected_gene': 'LOC100420673', 'score': 4.85}, {'connected_gene': 'ENSG00000255639', 'score': 0.44}, {'connected_gene': 'GC12P005656', 'score': 0.37}, {'connected_gene': 'NDUFA9', 'score': 0.37}]
chr12	GH12I004587	4587255	4587404	0.31	[{'connected_gene': 'RAD51AP1', 'score': 11.06}, {'connected_gene': 'C12orf4', 'score': 11.06}, {'connected_gene': 'DYRK4', 'score': 10.92}, {'connected_gene': 'GALNT8', 'score': 10.83}, {'connected_gene': 'LOC101929549', 'score': 10.83}, {'connected_gene': 'AKAP3', 'score': 10.72}, {'connected_gene': 'NDUFA9', 'score': 10.72}, {'connected_gene': 'LOC103568124', 'score': 0.37}]
chr12	GH12I004568	4568801	4569400	0.2	[{'connected_gene': 'RAD51AP1', 'score': 11.78}, {'connected_gene': 'C12orf4', 'score': 11.78}, {'connected_gene': 'LOC103568124', 'score': 10.65}, {'connected_gene': 'NDUFA9', 'score': 10.54}, {'connected_gene': 'AKAP3', 'score': 10.12}, {'connected_gene': 'DYRK4', 'score': 0.44}]
chr12	GH12I004647	4647860	4650244	1.99	[{'connected_gene': 'AKAP3', 'score': 591.17}, {'connected_gene': 'GC12P005656', 'score': 550.77}, {'connected_gene': 'NDUFA9', 'score': 550.77}, {'connected_gene': 'LOC103568124', 'score': 10.85}, {'connected_gene': 'GALNT8', 'score': 10.82}, {'connected_gene': 'LOC101929549', 'score': 10.82}, {'connected_gene': 'DYRK4', 'score': 10.77}, {'connected_gene': 'LOC100420673', 'score': 10.73}, {'connected_gene': 'ENSG00000256381', 'score': 0.77}, {'connected_gene': 'ENSG00000272921', 'score': 0.26}]
chr12	GH12I004564	4564601	4568784	0.8	[{'connected_gene': 'AKAP3', 'score': 15.95}, {'connected_gene': 'RAD51AP1', 'score': 11.8}, {'connected_gene': 'C12orf4', 'score': 11.8}, {'connected_gene': 'LOC103568124', 'score': 10.97}, {'connected_gene': 'NDUFA9', 'score': 10.87}, {'connected_gene': 'TIGAR', 'score': 5.33}, {'connected_gene': 'DYRK4', 'score': 0.77}]
chr12	GH12I004661	4661006	4661247	0.38	[{'connected_gene': 'AKAP3', 'score': 17.07}, {'connected_gene': 'LOC103568124', 'score': 11.02}, {'connected_gene': 'DYRK4', 'score': 10.95}, {'connected_gene': 'GALNT8', 'score': 10.79}, {'connected_gene': 'LOC101929549', 'score': 10.79}, {'connected_gene': 'C12orf4', 'score': 10.24}, {'connected_gene': 'RAD51AP1', 'score': 10.24}, {'connected_gene': 'ENSG00000255639', 'score': 0.77}, {'connected_gene': 'GC12P005656', 'score': 0.39}, {'connected_gene': 'NDUFA9', 'score': 0.39}, {'connected_gene': 'ENSG00000272921', 'score': 0.22}]