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
ENST00000509093	[[83955599, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83996449, 83996942]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83996449, 83996506]]
ENST00000264389	[[83956242, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996971]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996583]]
ENST00000511891	[[83956323, 83956451], [83966778, 83966858], [83970318, 83970668]]	None
ENST00000509317	[[83956325, 83956451], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996524]]	[[83956377, 83956451], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996524]]
ENST00000510801	[[83956326, 83956451], [83970318, 83970470], [83971033, 83971137]]	None
ENST00000506443	[[83956351, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971142], [83978078, 83978215]]	None
ENST00000507376	[[83956353, 83956451], [83966749, 83966858], [83970318, 83970470], [83971033, 83971112]]	[[83956377, 83956451], [83966749, 83966831]]
ENST00000503682	[[83956359, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83986212, 83986308], [83987590, 83987706], [83989590, 83989675], [83996449, 83996950]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83986212, 83986308], [83987590, 83987706], [83989590, 83989675], [83996449, 83996583]]
ENST00000511653	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83994358, 83994506], [83996449, 83996909]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83994358, 83994506], [83996449, 83996477]]
ENST00000511708	[[83956582, 83957184], [83966778, 83966858], [83970318, 83970460]]	None
ENST00000504274	[[83984127, 83984399], [83987590, 83987706], [83989590, 83989659]]	None
NM_001258006	[[83956238, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83996449, 83996971]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83996449, 83996506]]
NM_016129	[[83956238, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996971]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83996449, 83996583]]
NM_001330727	[[83956238, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83994358, 83994506], [83996449, 83996971]]	[[83956377, 83956451], [83966778, 83966858], [83970318, 83970470], [83971033, 83971137], [83978078, 83978232], [83978410, 83978561], [83984228, 83984399], [83987590, 83987706], [83989590, 83989675], [83994358, 83994506], [83996449, 83996477]]

Promoter

Chrom	Start	End	Description
chr4	83956237	83956248	CAGE_peak_3_at_COPS4_5end
chr4	83956260	83956278	CAGE_peak_2_at_COPS4_5end
chr4	83956312	83956376	CAGE_peak_1_at_COPS4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I083033	83033922	83036652	2.11	[{'connected_gene': 'COPS4', 'score': 550.77}, {'connected_gene': 'GC04P083035', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 39.25}, {'connected_gene': 'HELQ', 'score': 25.8}, {'connected_gene': 'THAP9-AS1', 'score': 20.74}, {'connected_gene': 'ABRAXAS1', 'score': 19.05}, {'connected_gene': 'HNRNPDL', 'score': 12.77}, {'connected_gene': 'SEC31A', 'score': 10.63}]
chr4	GH04I083037	83037094	83037606	0.49	[{'connected_gene': 'COPS4', 'score': 0.77}, {'connected_gene': 'GC04P083035', 'score': 0.77}, {'connected_gene': 'PIR55066', 'score': 0.37}]
chr4	GH04I083022	83022401	83023401	0.45	[{'connected_gene': 'THAP9-AS1', 'score': 46.31}, {'connected_gene': 'THAP9', 'score': 11.9}, {'connected_gene': 'HPSE', 'score': 4.63}, {'connected_gene': 'PLAC8', 'score': 2.97}, {'connected_gene': 'COQ2', 'score': 1.72}, {'connected_gene': 'HELQ', 'score': 1.34}, {'connected_gene': 'LIN54', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.39}]
chr4	GH04I083069	83069697	83071797	0.31	[{'connected_gene': 'THAP9-AS1', 'score': 24.99}, {'connected_gene': 'GC04P083063', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.2}]
chr4	GH04I083019	83019901	83020638	0.78	[{'connected_gene': 'THAP9-AS1', 'score': 7.3}, {'connected_gene': 'LIN54', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.39}]
chr4	GH04I083074	83074002	83074426	0.89	[{'connected_gene': 'GC04P083063', 'score': 0.39}, {'connected_gene': 'COPS4', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.21}]
chr4	GH04I083065	83065610	83065721	0.22	[{'connected_gene': 'GC04P083063', 'score': 550.77}, {'connected_gene': 'COPS4', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.19}]
chr4	GH04I083075	83075255	83076334	0.92	[{'connected_gene': 'GC04P083063', 'score': 0.39}, {'connected_gene': 'COPS4', 'score': 0.26}, {'connected_gene': 'PLAC8', 'score': 0.21}]
chr4	GH04I083067	83067368	83067477	0.43	[{'connected_gene': 'GC04P083063', 'score': 0.77}, {'connected_gene': 'COPS4', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.2}]