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
ENST00000503024	[[174446119, 174446179], [174446423, 174446528], [174448163, 174448526], [174449885, 174450063]]	[[174448427, 174448526], [174449885, 174450063]]
ENST00000359562	[[174447241, 174448526], [174449885, 174451380]]	[[174448427, 174448526], [174449885, 174450440]]
ENST00000505300	[[174449229, 174450494], [174450695, 174450776], [174451330, 174451357]]	None
NM_021973	[[174447651, 174448526], [174449885, 174451378]]	[[174448427, 174448526], [174449885, 174450440]]

Promoter

Chrom	Start	End	Description
chr4	174450089	174450153	CAGE_peak_2_at_HAND2_5end
chr4	174451350	174451363	CAGE_peak_3_at_HAND2_5end
chr4	174451370	174451387	CAGE_peak_1_at_HAND2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I173556	173556310	173559770	0.38	[{'connected_gene': 'HAND2', 'score': 0.31}, {'connected_gene': 'HAND2-AS1', 'score': 0.29}, {'connected_gene': 'ENSG00000261672', 'score': 0.28}, {'connected_gene': 'GC04M173250', 'score': 0.13}]
chr4	GH04I173547	173547801	173548200	0.86	[{'connected_gene': 'HAND2', 'score': 0.37}, {'connected_gene': 'HAND2-AS1', 'score': 0.34}, {'connected_gene': 'ENSG00000261672', 'score': 0.25}, {'connected_gene': 'GC04M173250', 'score': 0.12}]
chr4	GH04I174023	174023939	174023969	0.41	[{'connected_gene': 'HAND2', 'score': 2.13}, {'connected_gene': 'LOC105377546', 'score': 0.37}, {'connected_gene': 'GC04P174109', 'score': 0.17}]
chr4	GH04I173746	173746519	173746667	0.4	[{'connected_gene': 'HAND2', 'score': 4.5}, {'connected_gene': 'LINC02269', 'score': 0.23}, {'connected_gene': 'ENSG00000250043', 'score': 0.1}]
chr4	GH04I173907	173907099	173907329	0.4	[{'connected_gene': 'HAND2', 'score': 5.01}, {'connected_gene': 'ENSG00000250043', 'score': 0.44}, {'connected_gene': 'LINC02269', 'score': 0.08}]
chr4	GH04I173538	173538401	173538800	0.92	[{'connected_gene': 'CEP44', 'score': 15.53}, {'connected_gene': 'ENSG00000261646', 'score': 10.1}, {'connected_gene': 'HAND2', 'score': 0.44}, {'connected_gene': 'HAND2-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000261672', 'score': 0.22}, {'connected_gene': 'GC04M173250', 'score': 0.11}]
chr4	GH04I173520	173520933	173533441	2.56	[{'connected_gene': 'HAND2-AS1', 'score': 559.98}, {'connected_gene': 'HAND2', 'score': 557.0}, {'connected_gene': 'LOC101928409', 'score': 0.37}, {'connected_gene': 'GC04M173250', 'score': 0.1}]
chr4	GH04I173540	173540939	173541547	0.31	[{'connected_gene': 'HAND2-AS1', 'score': 6.45}, {'connected_gene': 'HAND2', 'score': 0.39}, {'connected_gene': 'ENSG00000261672', 'score': 0.23}, {'connected_gene': 'GC04M173250', 'score': 0.12}]
chr4	GH04I173543	173543096	173544885	0.38	[{'connected_gene': 'HAND2-AS1', 'score': 6.84}, {'connected_gene': 'HAND2', 'score': 0.39}, {'connected_gene': 'ENSG00000261672', 'score': 0.25}, {'connected_gene': 'GC04M173250', 'score': 0.12}]
chr4	GH04I173536	173536950	173537099	0.66	[{'connected_gene': 'HAND2-AS1', 'score': 10.12}, {'connected_gene': 'HAND2', 'score': 0.44}, {'connected_gene': 'ENSG00000261672', 'score': 0.22}, {'connected_gene': 'GC04M173250', 'score': 0.11}]
chr4	GH04I173539	173539541	173539777	0.38	[{'connected_gene': 'HAND2-AS1', 'score': 5.65}, {'connected_gene': 'HAND2', 'score': 0.44}, {'connected_gene': 'ENSG00000261672', 'score': 0.23}, {'connected_gene': 'GC04M173250', 'score': 0.11}]
chr4	GH04I173548	173548891	173549613	0.2	[{'connected_gene': 'HAND2-AS1', 'score': 12.44}, {'connected_gene': 'HAND2', 'score': 0.37}, {'connected_gene': 'ENSG00000261672', 'score': 0.26}, {'connected_gene': 'GC04M173250', 'score': 0.12}]
chr4	GH04I173533	173533794	173534424	0.31	[{'connected_gene': 'HAND2-AS1', 'score': 9.58}, {'connected_gene': 'HAND2', 'score': 0.77}, {'connected_gene': 'ENSG00000261672', 'score': 0.22}, {'connected_gene': 'GC04M173250', 'score': 0.11}]
chr4	GH04I173514	173514316	173514579	0.53	[{'connected_gene': 'RNU6-1096P', 'score': 10.91}, {'connected_gene': 'HAND2', 'score': 5.43}, {'connected_gene': 'LOC101928409', 'score': 0.44}, {'connected_gene': 'HAND2-AS1', 'score': 0.39}, {'connected_gene': 'GC04M173250', 'score': 0.1}]
chr4	GH04I173935	173935742	173936107	0.47	[{'connected_gene': 'LOC105377543', 'score': 550.77}, {'connected_gene': 'HAND2', 'score': 1.31}, {'connected_gene': 'ENSG00000250043', 'score': 0.34}, {'connected_gene': 'ENSG00000251216', 'score': 0.23}]
chr4	GH04I173572	173572618	173574939	0.46	[{'connected_gene': 'LOC105377540', 'score': 5.86}, {'connected_gene': 'ENSG00000261672', 'score': 0.37}, {'connected_gene': 'HAND2', 'score': 0.26}, {'connected_gene': 'HAND2-AS1', 'score': 0.25}, {'connected_gene': 'GC04M173250', 'score': 0.14}]
chr4	GH04I173577	173577449	173579939	0.49	[{'connected_gene': 'ENSG00000261672', 'score': 0.39}, {'connected_gene': 'HAND2', 'score': 0.25}, {'connected_gene': 'HAND2-AS1', 'score': 0.23}, {'connected_gene': 'GC04M173250', 'score': 0.15}]
chr4	GH04I173563	173563988	173564703	0.2	[{'connected_gene': 'ENSG00000261672', 'score': 0.31}, {'connected_gene': 'HAND2', 'score': 0.29}, {'connected_gene': 'HAND2-AS1', 'score': 0.28}, {'connected_gene': 'GC04M173250', 'score': 0.13}]
chr4	GH04I173575	173575627	173577256	0.31	[{'connected_gene': 'ENSG00000261672', 'score': 0.37}, {'connected_gene': 'HAND2-AS1', 'score': 0.25}, {'connected_gene': 'HAND2', 'score': 0.25}, {'connected_gene': 'GC04M173250', 'score': 0.15}]
chr4	GH04I173570	173570185	173572297	0.2	[{'connected_gene': 'ENSG00000261672', 'score': 0.34}, {'connected_gene': 'HAND2-AS1', 'score': 0.26}, {'connected_gene': 'HAND2', 'score': 0.26}, {'connected_gene': 'GC04M173250', 'score': 0.14}]