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
ENST00000602212	[[47523076, 47523254], [47524262, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47549033]]	[[47524304, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47548909]]
ENST00000602189	[[47523105, 47523254], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542661, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47548985]]	[[47539227, 47539387], [47542293, 47542409], [47542661, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47548909]]
ENST00000449844	[[47524142, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47549017]]	[[47524304, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47548909]]
ENST00000439365	[[47538586, 47538616], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383], [47546067, 47546162], [47548448, 47549016]]	[[47539227, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383], [47546067, 47546130]]
ENST00000601169	[[47538589, 47538616], [47539117, 47539387], [47543701, 47544016]]	None
ENST00000594670	[[47538605, 47538616], [47539117, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383]]	[[47539227, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383]]
ENST00000594257	[[47538607, 47538616], [47539221, 47539387], [47543701, 47543808], [47544235, 47544383], [47546067, 47546135]]	[[47539227, 47539387], [47543701, 47543808], [47544235, 47544256]]
ENST00000600352	[[47539146, 47539387], [47542334, 47542409], [47542664, 47542822], [47543701, 47543991]]	None
NM_002517	[[47523100, 47523254], [47524262, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47549033]]	[[47524304, 47524426], [47524868, 47525104], [47535535, 47535609], [47535900, 47535990], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544235, 47544383], [47546067, 47546162], [47548448, 47548909]]
NM_001321086	[[47538586, 47538616], [47539221, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383], [47546067, 47546162], [47548448, 47549033]]	[[47539227, 47539387], [47542293, 47542409], [47542664, 47542822], [47543701, 47543808], [47544282, 47544383], [47546067, 47546130]]

Promoter

Chrom	Start	End	Description
chr19	47523040	47523049	CAGE_peak_3_at_NPAS1_5end
chr19	47523058	47523114	CAGE_peak_1_at_NPAS1_5end
chr19	47538560	47538591	CAGE_peak_2_at_NPAS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I047712	47712784	47714785	2.08	[{'connected_gene': 'EHD2', 'score': 550.77}, {'connected_gene': 'SELENOW', 'score': 6.51}, {'connected_gene': 'ZNF541', 'score': 5.29}, {'connected_gene': 'DHX34', 'score': 4.64}, {'connected_gene': 'NPAS1', 'score': 4.42}, {'connected_gene': 'PIR33748', 'score': 0.39}, {'connected_gene': 'GC19M047700', 'score': 0.31}, {'connected_gene': 'ENSG00000268746', 'score': 0.14}]
chr19	GH19I047748	47748164	47748558	0.2	[{'connected_gene': 'NOP53', 'score': 10.61}, {'connected_gene': 'NPAS1', 'score': 4.26}, {'connected_gene': 'PIR37560', 'score': 0.77}]
chr19	GH19I046979	46979144	46979875	0.69	[{'connected_gene': 'ARHGAP35', 'score': 11.54}, {'connected_gene': 'TMEM160', 'score': 11.1}, {'connected_gene': 'NPAS1', 'score': 5.69}, {'connected_gene': 'GC19P046965', 'score': 0.39}, {'connected_gene': 'PIR46184', 'score': 0.34}, {'connected_gene': 'GC19P047005', 'score': 0.34}]
chr19	GH19I046961	46961819	46964864	0.86	[{'connected_gene': 'ARHGAP35', 'score': 11.76}, {'connected_gene': 'AP2S1', 'score': 11.25}, {'connected_gene': 'TMEM160', 'score': 10.83}, {'connected_gene': 'FKRP', 'score': 10.25}, {'connected_gene': 'STRN4', 'score': 10.25}, {'connected_gene': 'NPAS1', 'score': 6.22}, {'connected_gene': 'GC19P046965', 'score': 0.77}, {'connected_gene': 'GC19M046915', 'score': 0.44}]
chr19	GH19I046974	46974238	46979141	1.25	[{'connected_gene': 'ZC3H4', 'score': 18.25}, {'connected_gene': 'CCDC61', 'score': 17.19}, {'connected_gene': 'BICRA', 'score': 12.14}, {'connected_gene': 'ARHGAP35', 'score': 11.58}, {'connected_gene': 'AP2S1', 'score': 11.15}, {'connected_gene': 'TMEM160', 'score': 11.09}, {'connected_gene': 'ENSG00000268810', 'score': 10.71}, {'connected_gene': 'SAE1', 'score': 10.47}, {'connected_gene': 'NPAS1', 'score': 6.38}, {'connected_gene': 'GC19P046965', 'score': 0.39}, {'connected_gene': 'PIR46184', 'score': 0.34}, {'connected_gene': 'GC19P047005', 'score': 0.34}]
chr19	GH19I047034	47034854	47036894	1.5	[{'connected_gene': 'ZC3H4', 'score': 26.18}, {'connected_gene': 'BICRA', 'score': 15.37}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'SAE1', 'score': 11.61}, {'connected_gene': 'PPP5D1', 'score': 11.13}, {'connected_gene': 'ENSG00000268810', 'score': 9.72}, {'connected_gene': 'PIR57310', 'score': 0.39}, {'connected_gene': 'TMEM160', 'score': 0.39}, {'connected_gene': 'NPAS1', 'score': 0.37}]
chr19	GH19I047012	47012669	47013560	1.29	[{'connected_gene': 'ZC3H4', 'score': 19.8}, {'connected_gene': 'BICRA', 'score': 17.09}, {'connected_gene': 'ENSG00000268810', 'score': 13.43}, {'connected_gene': 'NOP53-AS1', 'score': 12.06}, {'connected_gene': 'NPAS1', 'score': 4.68}, {'connected_gene': 'PIR58641', 'score': 0.44}]
chr19	GH19I046967	46967241	46968531	0.83	[{'connected_gene': 'AP2S1', 'score': 16.46}, {'connected_gene': 'ARHGAP35', 'score': 11.72}, {'connected_gene': 'TMEM160', 'score': 10.53}, {'connected_gene': 'NPAS1', 'score': 5.71}, {'connected_gene': 'GC19P046965', 'score': 0.77}, {'connected_gene': 'PIR46184', 'score': 0.29}, {'connected_gene': 'GC19P047005', 'score': 0.29}]
chr19	GH19I046969	46969106	46973098	0.83	[{'connected_gene': 'AP2S1', 'score': 17.11}, {'connected_gene': 'ARHGAP35', 'score': 11.59}, {'connected_gene': 'TMEM160', 'score': 10.95}, {'connected_gene': 'SAE1', 'score': 9.9}, {'connected_gene': 'NPAS1', 'score': 5.72}, {'connected_gene': 'GC19P046965', 'score': 0.44}, {'connected_gene': 'PIR46184', 'score': 0.29}, {'connected_gene': 'GC19P047005', 'score': 0.29}]
chr19	GH19I047752	47752021	47753101	0.2	[{'connected_gene': 'PIR37560', 'score': 550.77}, {'connected_gene': 'SELENOW', 'score': 29.48}, {'connected_gene': 'NOP53', 'score': 12.11}, {'connected_gene': 'CARD8', 'score': 4.58}, {'connected_gene': 'NPAS1', 'score': 4.27}, {'connected_gene': 'GC19P047756', 'score': 0.77}]
chr19	GH19I047019	47019189	47022729	1.33	[{'connected_gene': 'PIR57310', 'score': 550.77}, {'connected_gene': 'NPAS1', 'score': 550.77}, {'connected_gene': 'TMEM160', 'score': 11.73}, {'connected_gene': 'SAE1', 'score': 11.11}, {'connected_gene': 'ARHGAP35', 'score': 10.76}]
chr19	GH19I047032	47032303	47032452	0.67	[{'connected_gene': 'PIR57310', 'score': 0.39}, {'connected_gene': 'NPAS1', 'score': 0.39}, {'connected_gene': 'TMEM160', 'score': 0.37}]
chr19	GH19I047004	47003946	47004542	0.79	[{'connected_gene': 'PIR58641', 'score': 550.77}, {'connected_gene': 'PIR53242', 'score': 550.77}, {'connected_gene': 'NPAS1', 'score': 0.37}, {'connected_gene': 'ARHGAP35', 'score': 0.17}]
chr19	GH19I047005	47005984	47006133	0.63	[{'connected_gene': 'PIR58641', 'score': 0.77}, {'connected_gene': 'NPAS1', 'score': 0.39}]
chr19	GH19I046943	46943006	46948853	1.53	[{'connected_gene': 'ENSG00000279948', 'score': 550.77}, {'connected_gene': 'DACT3', 'score': 2.08}, {'connected_gene': 'MEIS3', 'score': 1.85}, {'connected_gene': 'ARHGAP35', 'score': 1.68}, {'connected_gene': 'NPAS1', 'score': 1.37}, {'connected_gene': 'PNMA8B', 'score': 1.33}, {'connected_gene': 'PNMA8A', 'score': 1.29}, {'connected_gene': 'GC19M046915', 'score': 0.44}, {'connected_gene': 'PIR40993', 'score': 0.31}]