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

Promoter

Chrom	Start	End	Description
chr3	47554791	47554860	CAGE_peak_2_at_C3orf75_5end
chr3	47555167	47555208	CAGE_peak_1_at_C3orf75_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH03I047481	47481268	47482928	0.85	[{'connected_gene': 'ELP6', 'score': 12.15}, {'connected_gene': 'CDC25A', 'score': 9.0}, {'connected_gene': 'SCAP', 'score': 8.6}, {'connected_gene': 'GC03P047477', 'score': 0.77}, {'connected_gene': 'LOC105377073', 'score': 0.44}, {'connected_gene': 'GC03P047492', 'score': 0.39}]
chr3	GH03I047511	47511506	47514201	2.08	[{'connected_gene': 'ELP6', 'score': 550.77}, {'connected_gene': 'SETD2', 'score': 40.79}, {'connected_gene': 'NME6', 'score': 36.21}, {'connected_gene': 'MRPS18AP1', 'score': 30.71}, {'connected_gene': 'ZNF589', 'score': 28.64}, {'connected_gene': 'PTPN23', 'score': 23.28}, {'connected_gene': 'ATRIP', 'score': 23.0}, {'connected_gene': 'CCDC12', 'score': 21.85}, {'connected_gene': 'FCF1P2', 'score': 18.76}, {'connected_gene': 'BOLA2P2', 'score': 13.34}, {'connected_gene': 'NBEAL2', 'score': 12.75}, {'connected_gene': 'SCAP', 'score': 7.1}, {'connected_gene': 'PRSS45', 'score': 5.76}, {'connected_gene': 'CSPG5', 'score': 4.13}, {'connected_gene': 'GC03M047501', 'score': 0.39}, {'connected_gene': 'GC03M047502', 'score': 0.39}]
chr3	GH03I047429	47429072	47430700	0.66	[{'connected_gene': 'ELP6', 'score': 11.67}, {'connected_gene': 'SCAP', 'score': 11.49}, {'connected_gene': 'PTPN23', 'score': 11.11}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'NBEAL2', 'score': 9.36}, {'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.39}, {'connected_gene': 'GC03M047419', 'score': 0.39}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3	GH03I048085	48085261	48090540	2.61	[{'connected_gene': 'MAP4', 'score': 550.77}, {'connected_gene': 'ATRIP', 'score': 67.27}, {'connected_gene': 'DHX30', 'score': 53.05}, {'connected_gene': 'ZNF589', 'score': 35.25}, {'connected_gene': 'ENSG00000235236', 'score': 30.27}, {'connected_gene': 'SETD2', 'score': 27.79}, {'connected_gene': 'PTPN23', 'score': 20.42}, {'connected_gene': 'TMEM89', 'score': 19.29}, {'connected_gene': 'KLHL18', 'score': 17.09}, {'connected_gene': 'ENSG00000260236', 'score': 13.92}, {'connected_gene': 'BOLA2P2', 'score': 13.1}, {'connected_gene': 'PRKAR2A', 'score': 12.53}, {'connected_gene': 'SCAP', 'score': 12.34}, {'connected_gene': 'ELP6', 'score': 12.28}, {'connected_gene': 'NME6', 'score': 11.86}, {'connected_gene': 'MRPS18AP1', 'score': 11.69}, {'connected_gene': 'ENSG00000223343', 'score': 11.4}, {'connected_gene': 'P4HTM', 'score': 10.42}, {'connected_gene': 'DALRD3', 'score': 9.76}, {'connected_gene': 'ENSG00000270285', 'score': 0.25}]
chr3	GH03I047522	47522002	47522601	1.2	[{'connected_gene': 'PRSS50', 'score': 5.57}, {'connected_gene': 'ZNF589', 'score': 4.98}, {'connected_gene': 'KLHL18', 'score': 4.88}, {'connected_gene': 'ELP6', 'score': 0.44}, {'connected_gene': 'LOC105377074', 'score': 0.39}]
chr3	GH03I047404	47404520	47406374	0.88	[{'connected_gene': 'PTPN23', 'score': 12.19}, {'connected_gene': 'SCAP', 'score': 11.87}, {'connected_gene': 'ELP6', 'score': 11.38}, {'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.39}, {'connected_gene': 'GC03M047419', 'score': 0.39}, {'connected_gene': 'ENSG00000260236', 'score': 0.34}]
chr3	GH03I047432	47432931	47436143	0.56	[{'connected_gene': 'NBEAL2', 'score': 12.07}, {'connected_gene': 'SCAP', 'score': 12.03}, {'connected_gene': 'ELP6', 'score': 11.68}, {'connected_gene': 'PTPN23', 'score': 11.09}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'PTH1R', 'score': 6.52}, {'connected_gene': 'PIR43961', 'score': 0.37}, {'connected_gene': 'GC03M047419', 'score': 0.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3	GH03I047439	47439771	47440907	0.84	[{'connected_gene': 'SCAP', 'score': 18.32}, {'connected_gene': 'ELP6', 'score': 11.2}, {'connected_gene': 'PIR43961', 'score': 0.34}, {'connected_gene': 'GC03M047419', 'score': 0.34}, {'connected_gene': 'ENSG00000276925', 'score': 0.31}]
chr3	GH03I047824	47824147	47826411	1.52	[{'connected_gene': 'DHX30', 'score': 25.84}, {'connected_gene': 'ZNF589', 'score': 13.31}, {'connected_gene': 'MIR1226', 'score': 13.15}, {'connected_gene': 'MAP4', 'score': 12.88}, {'connected_gene': 'FCF1P2', 'score': 12.09}, {'connected_gene': 'ELP6', 'score': 11.8}, {'connected_gene': 'ENSG00000260236', 'score': 11.09}, {'connected_gene': 'CDC25A', 'score': 11.07}, {'connected_gene': 'ENSG00000274420', 'score': 0.44}, {'connected_gene': 'PIR41733', 'score': 0.37}, {'connected_gene': 'GC03P047843', 'score': 0.37}, {'connected_gene': 'GC03P047842', 'score': 0.37}, {'connected_gene': 'GC03P047845', 'score': 0.37}]
chr3	GH03I047441	47441116	47445080	1.51	[{'connected_gene': 'NME6', 'score': 18.89}, {'connected_gene': 'SETD2', 'score': 16.66}, {'connected_gene': 'PTPN23', 'score': 16.25}, {'connected_gene': 'NBEAL2', 'score': 12.71}, {'connected_gene': 'SCAP', 'score': 12.45}, {'connected_gene': 'ZNF589', 'score': 12.3}, {'connected_gene': 'MRPS18AP1', 'score': 11.93}, {'connected_gene': 'CCDC12', 'score': 11.34}, {'connected_gene': 'ELP6', 'score': 11.08}, {'connected_gene': 'BOLA2P2', 'score': 10.65}, {'connected_gene': 'FCF1P2', 'score': 9.95}, {'connected_gene': 'KLHL18', 'score': 9.02}, {'connected_gene': 'PTH1R', 'score': 6.48}, {'connected_gene': 'PIR43961', 'score': 0.34}, {'connected_gene': 'GC03M047419', 'score': 0.34}, {'connected_gene': 'ENSG00000276925', 'score': 0.31}]
chr3	GH03I047501	47501696	47503620	0.85	[{'connected_gene': 'GC03P047502', 'score': 550.77}, {'connected_gene': 'GC03M047501', 'score': 550.77}, {'connected_gene': 'GC03M047502', 'score': 550.77}, {'connected_gene': 'NBEAL2', 'score': 12.09}, {'connected_gene': 'ELP6', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000296149	[[47537129, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47555026, 47555251]]	[[47537558, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47555026, 47555080]]
ENST00000442215	[[47537130, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47552637, 47552716], [47555026, 47555199]]	[[47545888, 47545938], [47552637, 47552716], [47555026, 47555080]]
ENST00000446787	[[47537435, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551638, 47551744], [47552637, 47552705]]	[[47537558, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545923]]
ENST00000439305	[[47537518, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47554810, 47554903]]	[[47537558, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545923]]
ENST00000412761	[[47539755, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47552801, 47552868]]	[[47539755, 47539922], [47543139, 47543341], [47545819, 47545923]]
ENST00000444760	[[47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47554481, 47554871]]	[[47539775, 47539922], [47543139, 47543341], [47545819, 47545923]]
ENST00000445044	[[47539777, 47539922], [47543139, 47543341], [47544614, 47544939], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47554810, 47554880]]	[[47544836, 47544939], [47545819, 47545923]]
ENST00000461208	[[47543016, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716]]	None
ENST00000425291	[[47543105, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552805]]	[[47543105, 47543341], [47545819, 47545923]]
ENST00000494161	[[47543139, 47543341], [47545819, 47545938], [47555026, 47555192]]	None
ENST00000449409	[[47543148, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47554712, 47554829]]	[[47543148, 47543341], [47545819, 47545923]]
ENST00000414236	[[47543205, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47554680, 47554832]]	[[47543205, 47543341], [47545819, 47545923]]
ENST00000485029	[[47545683, 47545938], [47551673, 47551744], [47552637, 47552716], [47555026, 47555199]]	None
ENST00000483205	[[47551445, 47551744], [47552637, 47552716], [47555026, 47555201]]	None
ENST00000460502	[[47553258, 47553764], [47554808, 47554851]]	None
NM_001031703	[[47537129, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47555026, 47555199]]	[[47537558, 47537687], [47539775, 47539922], [47543139, 47543341], [47545819, 47545938], [47551673, 47551744], [47552637, 47552716], [47555026, 47555080]]