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
ENST00000254480	[[47626761, 47629796], [47632150, 47632327], [47651555, 47651817], [47663696, 47663831], [47676679, 47676834], [47677511, 47677626], [47680214, 47680270], [47702783, 47702945], [47703823, 47704082], [47712147, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892], [47747898, 47748020], [47752172, 47752298], [47755904, 47755980], [47762155, 47762225], [47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47814306, 47814426], [47823092, 47823407]]	[[47629698, 47629796], [47632150, 47632327], [47651555, 47651817], [47663696, 47663831], [47676679, 47676834], [47677511, 47677626], [47680214, 47680270], [47702783, 47702945], [47703823, 47704082], [47712147, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892], [47747898, 47748020], [47752172, 47752298], [47755904, 47755980], [47762155, 47762225], [47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47814306, 47814426], [47823092, 47823287]]
ENST00000425518	[[47629079, 47629796], [47632150, 47632327], [47651555, 47651817], [47663696, 47663831], [47676679, 47676834], [47677511, 47677626], [47680214, 47680270], [47702783, 47702945], [47703823, 47704082], [47712147, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892], [47747898, 47748020], [47752172, 47752298], [47755904, 47755980], [47762155, 47762225], [47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47814306, 47814426], [47823511, 47823596]]	None
ENST00000492896	[[47632295, 47632327], [47651555, 47651817], [47652014, 47652288]]	None
ENST00000483847	[[47711839, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719855]]	None
ENST00000462198	[[47719685, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47743144]]	None
ENST00000485737	[[47721712, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892]]	None
ENST00000485833	[[47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47787814, 47787895]]	None
ENST00000454240	[[47770526, 47770584], [47777523, 47777616], [47787397, 47787483], [47814306, 47814426], [47823092, 47823371]]	[[47777615, 47777616], [47787397, 47787483], [47814306, 47814426], [47823092, 47823287]]
NM_003074	[[47627377, 47629796], [47632150, 47632327], [47651555, 47651817], [47663696, 47663831], [47676679, 47676834], [47677511, 47677626], [47680214, 47680270], [47702783, 47702945], [47703823, 47704082], [47712147, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892], [47747898, 47748020], [47752172, 47752298], [47755904, 47755980], [47762155, 47762225], [47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47814306, 47814426], [47823092, 47823405]]	[[47629698, 47629796], [47632150, 47632327], [47651555, 47651817], [47663696, 47663831], [47676679, 47676834], [47677511, 47677626], [47680214, 47680270], [47702783, 47702945], [47703823, 47704082], [47712147, 47712207], [47716964, 47717078], [47718118, 47718272], [47719687, 47719801], [47721926, 47721998], [47727538, 47727660], [47730876, 47730914], [47734730, 47734790], [47742767, 47742892], [47747898, 47748020], [47752172, 47752298], [47755904, 47755980], [47762155, 47762225], [47770514, 47770584], [47777523, 47777616], [47779518, 47779600], [47787397, 47787483], [47814306, 47814426], [47823092, 47823287]]

Promoter

Chrom	Start	End	Description
chr3	47823298	47823423	CAGE_peak_1_at_SMARCC1_5end
chr3	47823566	47823597	CAGE_peak_4_at_SMARCC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I047950	47950484	47950609	0.38	[{'connected_gene': 'CDC25A', 'score': 12.9}, {'connected_gene': 'RNU7-128P', 'score': 10.27}, {'connected_gene': 'NDUFB1P1', 'score': 10.27}, {'connected_gene': 'SMARCC1', 'score': 2.09}, {'connected_gene': 'ATRIP', 'score': 1.35}, {'connected_gene': 'CCDC51', 'score': 1.34}, {'connected_gene': 'VPS26BP1', 'score': 0.39}, {'connected_gene': 'ENSG00000199591', 'score': 0.37}, {'connected_gene': 'GC03M047931', 'score': 0.37}, {'connected_gene': 'MAP4', 'score': 0.12}]
chr3	GH03I047778	47778222	47783378	2.28	[{'connected_gene': 'SMARCC1', 'score': 550.77}, {'connected_gene': 'ZNF589', 'score': 14.36}, {'connected_gene': 'DHX30', 'score': 11.7}, {'connected_gene': 'MAP4', 'score': 11.61}, {'connected_gene': 'SCAP', 'score': 10.85}, {'connected_gene': 'SLC26A6', 'score': 4.78}, {'connected_gene': 'ENSG00000235695', 'score': 0.13}]
chr3	GH03I047515	47515322	47516455	0.88	[{'connected_gene': 'SMARCC1', 'score': 12.15}, {'connected_gene': 'NBEAL2', 'score': 9.71}, {'connected_gene': 'ELP6', 'score': 0.77}, {'connected_gene': 'LOC105377074', 'score': 0.37}]
chr3	GH03I047788	47788264	47789860	1.22	[{'connected_gene': 'ZNF589', 'score': 19.61}, {'connected_gene': 'ATRIP', 'score': 12.13}, {'connected_gene': 'CCDC12', 'score': 9.83}, {'connected_gene': 'SMARCC1', 'score': 0.44}, {'connected_gene': 'DHX30', 'score': 0.39}]
chr3	GH03I046856	46856932	46857543	0.59	[{'connected_gene': 'PRSS45', 'score': 15.11}, {'connected_gene': 'XCR1', 'score': 13.82}, {'connected_gene': 'SMARCC1', 'score': 11.33}, {'connected_gene': 'CCR2', 'score': 10.33}, {'connected_gene': 'CXCR6', 'score': 10.12}, {'connected_gene': 'SETD2', 'score': 10.03}, {'connected_gene': 'PRSS42', 'score': 0.34}, {'connected_gene': 'PTH1R', 'score': 0.34}]
chr3	GH03I047379	47379060	47382317	2.12	[{'connected_gene': 'PTPN23', 'score': 581.27}, {'connected_gene': 'ENSG00000260236', 'score': 550.77}, {'connected_gene': 'NME6', 'score': 45.06}, {'connected_gene': 'SETD2', 'score': 40.73}, {'connected_gene': 'MRPS18AP1', 'score': 35.85}, {'connected_gene': 'ZNF589', 'score': 33.82}, {'connected_gene': 'CCDC12', 'score': 29.51}, {'connected_gene': 'BOLA2P2', 'score': 22.84}, {'connected_gene': 'NBEAL2', 'score': 12.63}, {'connected_gene': 'SCAP', 'score': 12.46}, {'connected_gene': 'SMARCC1', 'score': 11.0}, {'connected_gene': 'DHX30', 'score': 9.97}, {'connected_gene': 'KLHL18', 'score': 9.19}, {'connected_gene': 'ENSG00000280173', 'score': 0.29}]
chr3	GH03I047794	47794671	47794820	0.74	[{'connected_gene': 'SCAP', 'score': 10.14}, {'connected_gene': 'RNU7-128P', 'score': 10.02}, {'connected_gene': 'NDUFB1P1', 'score': 10.02}, {'connected_gene': 'CDC25A', 'score': 10.02}, {'connected_gene': 'DHX30', 'score': 0.44}, {'connected_gene': 'SMARCC1', 'score': 0.39}]
chr3	GH03I047725	47725691	47725840	0.6	[{'connected_gene': 'DHX30', 'score': 11.3}, {'connected_gene': 'SMARCC1', 'score': 0.22}, {'connected_gene': 'GC03P047662', 'score': 0.21}, {'connected_gene': 'ENSG00000235695', 'score': 0.21}]
chr3	GH03I047594	47594871	47595080	0.31	[{'connected_gene': 'DHX30', 'score': 9.91}, {'connected_gene': 'PIR34614', 'score': 0.44}, {'connected_gene': 'GC03M047588', 'score': 0.44}, {'connected_gene': 'ENSG00000214773', 'score': 0.44}, {'connected_gene': 'SMARCC1', 'score': 0.09}]
chr3	GH03I047801	47801359	47804281	2.23	[{'connected_gene': 'DHX30', 'score': 563.66}, {'connected_gene': 'ZNF589', 'score': 13.03}, {'connected_gene': 'PTPN23', 'score': 10.37}, {'connected_gene': 'PTH1R', 'score': 5.17}, {'connected_gene': 'SMARCC1', 'score': 0.34}]
chr3	GH03I047613	47613557	47614008	0.2	[{'connected_gene': 'CSPG5', 'score': 11.48}, {'connected_gene': 'ENSG00000214773', 'score': 0.44}, {'connected_gene': 'GC03M047649', 'score': 0.28}, {'connected_gene': 'SMARCC1', 'score': 0.1}]
chr3	GH03I047314	47314396	47315839	1.14	[{'connected_gene': 'GC03P047316', 'score': 550.77}, {'connected_gene': 'SMARCC1', 'score': 12.13}, {'connected_gene': 'KLHL18', 'score': 11.2}, {'connected_gene': 'KIF9', 'score': 11.2}, {'connected_gene': 'KIF9-AS1', 'score': 10.3}, {'connected_gene': 'SETD2', 'score': 10.3}, {'connected_gene': 'PTH1R', 'score': 9.99}, {'connected_gene': 'MYL3', 'score': 9.99}, {'connected_gene': 'ZNF589', 'score': 9.98}]
chr3	GH03I047663	47663067	47663763	0.27	[{'connected_gene': 'GC03P047662', 'score': 550.77}, {'connected_gene': 'ENSG00000235695', 'score': 550.77}, {'connected_gene': 'ZNF589', 'score': 11.96}, {'connected_gene': 'SETD2', 'score': 1.33}, {'connected_gene': 'SMARCC1', 'score': 0.13}]