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
ENST00000338134	[[47978400, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987525]]	[[47978672, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987417]]
ENST00000600551	[[47978406, 47978801], [47979371, 47979444]]	None
ENST00000536339	[[47978449, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984020, 47984090], [47984214, 47984290], [47984835, 47984891], [47986382, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987419]]	[[47978672, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983186]]
ENST00000594208	[[47978449, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984020, 47984090], [47984214, 47984290], [47984835, 47984891], [47986382, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987419]]	[[47986413, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987417]]
ENST00000595554	[[47980100, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47987191, 47987433]]	[[47980100, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47987191, 47987417]]
ENST00000600271	[[47980977, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987270], [47987434, 47987476]]	[[47980977, 47981038], [47983119, 47983186]]
ENST00000594139	[[47983813, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986835]]	None
ENST00000595484	[[47983948, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987342], [47987476, 47987522]]	None
ENST00000602193	[[47983979, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987342], [47987491, 47987518]]	None
ENST00000598699	[[47984083, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987085, 47987151]]	None
NR_111923	[[47978397, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984020, 47984090], [47984214, 47984290], [47984835, 47984891], [47986382, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987521]]	None
NM_007059	[[47978397, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987521]]	[[47978672, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47986551, 47986636], [47986758, 47986841], [47987191, 47987417]]
NM_001291296	[[47978397, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47987191, 47987521]]	[[47978672, 47978801], [47979788, 47979971], [47980059, 47980195], [47980962, 47981038], [47983119, 47983197], [47983554, 47983664], [47984016, 47984090], [47984214, 47984290], [47986417, 47986472], [47987191, 47987417]]

Promoter

Chrom	Start	End	Description
chr19	47987459	47987513	CAGE_peak_1_at_KPTN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I047492	47492482	47494037	0.56	[{'connected_gene': 'NAPA', 'score': 12.61}, {'connected_gene': 'MEIS3', 'score': 11.9}, {'connected_gene': 'ZNF541', 'score': 11.6}, {'connected_gene': 'BICRA', 'score': 11.37}, {'connected_gene': 'KPTN', 'score': 6.44}, {'connected_gene': 'ENSG00000279861', 'score': 0.77}, {'connected_gene': 'NAPA-AS1', 'score': 0.44}]
chr19	GH19I047509	47509390	47516495	2.62	[{'connected_gene': 'NAPA', 'score': 555.64}, {'connected_gene': 'ZC3H4', 'score': 18.24}, {'connected_gene': 'BICRA', 'score': 15.84}, {'connected_gene': 'GRWD1', 'score': 13.67}, {'connected_gene': 'NOP53-AS1', 'score': 13.21}, {'connected_gene': 'KDELR1', 'score': 10.0}, {'connected_gene': 'KPTN', 'score': 7.3}, {'connected_gene': 'CCDC9', 'score': 5.13}, {'connected_gene': 'C5AR1', 'score': 5.09}, {'connected_gene': 'DHX34', 'score': 5.01}, {'connected_gene': 'LIG1', 'score': 4.79}, {'connected_gene': 'SULT2A1', 'score': 4.51}, {'connected_gene': 'C5AR2', 'score': 3.59}, {'connected_gene': 'NOP53', 'score': 1.17}, {'connected_gene': 'ENSG00000279861', 'score': 0.34}, {'connected_gene': 'GC19M047497', 'score': 0.26}]
chr19	GH19I047721	47721909	47724779	1.27	[{'connected_gene': 'SELENOW', 'score': 11.57}, {'connected_gene': 'KPTN', 'score': 6.62}, {'connected_gene': 'PIR33748', 'score': 0.77}, {'connected_gene': 'EHD2', 'score': 0.39}, {'connected_gene': 'GC19M047700', 'score': 0.37}, {'connected_gene': 'ENSG00000268746', 'score': 0.13}]
chr19	GH19I047607	47607600	47614538	2.46	[{'connected_gene': 'BICRA', 'score': 550.77}, {'connected_gene': 'ZNF541', 'score': 16.2}, {'connected_gene': 'ZC3H4', 'score': 12.46}, {'connected_gene': 'MEIS3', 'score': 10.91}, {'connected_gene': 'PRKD2', 'score': 10.55}, {'connected_gene': 'CCDC9', 'score': 10.51}, {'connected_gene': 'LIG1', 'score': 10.11}, {'connected_gene': 'KPTN', 'score': 5.8}, {'connected_gene': 'ENSG00000268746', 'score': 0.77}, {'connected_gene': 'ENSG00000277383', 'score': 0.77}, {'connected_gene': 'BICRA-AS1', 'score': 0.37}]
chr19	GH19I047503	47503075	47504049	0.2	[{'connected_gene': 'BICRA', 'score': 11.05}, {'connected_gene': 'ZNF541', 'score': 10.98}, {'connected_gene': 'KPTN', 'score': 7.36}, {'connected_gene': 'NAPA', 'score': 0.39}, {'connected_gene': 'ENSG00000279861', 'score': 0.39}, {'connected_gene': 'GC19M047497', 'score': 0.23}]
chr19	GH19I047506	47506144	47508453	1	[{'connected_gene': 'BICRA', 'score': 11.05}, {'connected_gene': 'ZNF541', 'score': 10.98}, {'connected_gene': 'KPTN', 'score': 7.33}, {'connected_gene': 'TMEM143', 'score': 4.78}, {'connected_gene': 'NAPA', 'score': 0.44}, {'connected_gene': 'ENSG00000279861', 'score': 0.37}, {'connected_gene': 'GC19M047497', 'score': 0.25}]
chr19	GH19I047728	47728119	47731198	1.73	[{'connected_gene': 'ZC3H4', 'score': 28.83}, {'connected_gene': 'NOP53-AS1', 'score': 26.23}, {'connected_gene': 'CYTH2', 'score': 18.72}, {'connected_gene': 'GRWD1', 'score': 14.62}, {'connected_gene': 'SELENOW', 'score': 11.2}, {'connected_gene': 'BICRA', 'score': 10.17}, {'connected_gene': 'LIG1', 'score': 10.13}, {'connected_gene': 'CCDC9', 'score': 10.01}, {'connected_gene': 'NOP53', 'score': 8.46}, {'connected_gene': 'KPTN', 'score': 8.14}, {'connected_gene': 'PIR33748', 'score': 0.77}, {'connected_gene': 'GC19M047700', 'score': 0.44}, {'connected_gene': 'EHD2', 'score': 0.37}, {'connected_gene': 'ENSG00000268746', 'score': 0.13}]
chr19	GH19I047486	47486650	47488450	0.96	[{'connected_gene': 'KPTN', 'score': 557.76}, {'connected_gene': 'ENSG00000279861', 'score': 550.77}, {'connected_gene': 'NAPA-AS1', 'score': 0.77}, {'connected_gene': 'NAPA', 'score': 0.31}]
chr19	GH19I047483	47483401	47485891	2.27	[{'connected_gene': 'KPTN', 'score': 556.34}, {'connected_gene': 'NAPA-AS1', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 20.73}, {'connected_gene': 'BICRA', 'score': 15.17}, {'connected_gene': 'GRWD1', 'score': 13.83}, {'connected_gene': 'ENSG00000268746', 'score': 12.35}, {'connected_gene': 'NOP53', 'score': 12.25}, {'connected_gene': 'NOP53-AS1', 'score': 11.07}, {'connected_gene': 'EHD2', 'score': 11.01}, {'connected_gene': 'CYTH2', 'score': 10.9}, {'connected_gene': 'KDELR1', 'score': 10.74}, {'connected_gene': 'INAFM1', 'score': 10.4}]
chr19	GH19I047487	47486344	47486493	0.51	[{'connected_gene': 'KPTN', 'score': 550.77}, {'connected_gene': 'NAPA-AS1', 'score': 0.77}]
chr19	GH19I047479	47479401	47481106	0.87	[{'connected_gene': 'NAPA-AS1', 'score': 0.77}, {'connected_gene': 'KPTN', 'score': 0.44}, {'connected_gene': 'SLC8A2', 'score': 0.44}]