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
ENST00000269881	[[16589867, 16590085], [16591424, 16591517], [16593260, 16593392], [16593488, 16593596], [16594740, 16594926], [16595973, 16596068], [16601177, 16601381], [16606561, 16606663], [16606849, 16607003]]	[[16589941, 16590085], [16591424, 16591517], [16593260, 16593392], [16593488, 16593596], [16594740, 16594926], [16595973, 16596068], [16601177, 16601381], [16606561, 16606663], [16606849, 16606940]]
ENST00000602234	[[16593264, 16593392], [16593488, 16593596], [16594572, 16594924]]	None
ENST00000600762	[[16594779, 16594926], [16595973, 16596068], [16606561, 16606663], [16606849, 16606930]]	[[16594779, 16594926], [16595973, 16596068], [16606561, 16606663], [16606849, 16606930]]
NM_145046	[[16589867, 16590085], [16591424, 16591517], [16593260, 16593392], [16593488, 16593596], [16594740, 16594926], [16595973, 16596068], [16601177, 16601381], [16606561, 16606663], [16606849, 16607003]]	[[16589941, 16590085], [16591424, 16591517], [16593260, 16593392], [16593488, 16593596], [16594740, 16594926], [16595973, 16596068], [16601177, 16601381], [16606561, 16606663], [16606849, 16606940]]

Promoter

Chrom	Start	End	Description
chr19	16606944	16606963	CAGE_peak_3_at_CALR3_5end
chr19	16606967	16606987	CAGE_peak_4_at_CALR3_5end
chr19	16606988	16607003	CAGE_peak_5_at_CALR3_5end
chr19	16738998	16739024	CAGE_peak_1_at_CALR3_5end,CAGE_peak_1_at_MED26_5end
chr19	16739031	16739038	CAGE_peak_2_at_CALR3_5end,CAGE_peak_2_at_MED26_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I016607	16607509	16609200	1.21	[{'connected_gene': 'C19orf44', 'score': 21.27}, {'connected_gene': 'EPS15L1', 'score': 18.44}, {'connected_gene': 'MED26', 'score': 13.0}, {'connected_gene': 'CALR3', 'score': 12.8}, {'connected_gene': 'SLC35E1', 'score': 11.99}, {'connected_gene': 'TMEM38A', 'score': 11.97}, {'connected_gene': 'SMIM7', 'score': 11.97}, {'connected_gene': 'RN7SL146P', 'score': 11.82}, {'connected_gene': 'CHERP', 'score': 11.82}, {'connected_gene': 'CPAMD8', 'score': 10.15}, {'connected_gene': 'ENSG00000268087', 'score': 0.77}, {'connected_gene': 'ENSG00000141979', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.23}]
chr19	GH19I016495	16495549	16497352	2.05	[{'connected_gene': 'C19orf44', 'score': 593.22}, {'connected_gene': 'CALR3', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 10.53}, {'connected_gene': 'ENSG00000268743', 'score': 10.24}, {'connected_gene': 'RN7SL146P', 'score': 0.26}, {'connected_gene': 'GC19M016221', 'score': 0.15}, {'connected_gene': 'ENSG00000141979', 'score': 0.12}]
chr19	GH19I016489	16489090	16489219	0.87	[{'connected_gene': 'C19orf44', 'score': 25.12}, {'connected_gene': 'CHERP', 'score': 24.75}, {'connected_gene': 'RN7SL146P', 'score': 12.07}, {'connected_gene': 'ENSG00000269578', 'score': 11.92}, {'connected_gene': 'TPM4', 'score': 10.76}, {'connected_gene': 'ENSG00000268743', 'score': 10.41}, {'connected_gene': 'CPAMD8', 'score': 9.12}, {'connected_gene': 'CALR3', 'score': 0.44}, {'connected_gene': 'EPS15L1', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.15}, {'connected_gene': 'ENSG00000141979', 'score': 0.12}]
chr19	GH19I016492	16492530	16493312	0.9	[{'connected_gene': 'RN7SL146P', 'score': 12.08}, {'connected_gene': 'CHERP', 'score': 12.08}, {'connected_gene': 'CPAMD8', 'score': 9.12}, {'connected_gene': 'EPS15L1', 'score': 6.31}, {'connected_gene': 'CALR3', 'score': 0.77}, {'connected_gene': 'GC19M016221', 'score': 0.15}, {'connected_gene': 'ENSG00000141979', 'score': 0.12}]
chr19	GH19I016611	16611211	16612881	1.08	[{'connected_gene': 'ENSG00000279977', 'score': 550.77}, {'connected_gene': 'ENSG00000268087', 'score': 550.77}, {'connected_gene': 'C19orf44', 'score': 21.33}, {'connected_gene': 'CALR3', 'score': 12.79}, {'connected_gene': 'SLC35E1', 'score': 12.7}, {'connected_gene': 'CHERP', 'score': 11.82}, {'connected_gene': 'RN7SL146P', 'score': 11.81}, {'connected_gene': 'TMEM38A', 'score': 11.39}, {'connected_gene': 'SMIM7', 'score': 11.39}, {'connected_gene': 'EPS15L1', 'score': 10.99}, {'connected_gene': 'CPAMD8', 'score': 10.15}, {'connected_gene': 'ENSG00000269044', 'score': 7.53}, {'connected_gene': 'ENSG00000141979', 'score': 0.37}, {'connected_gene': 'MED26', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.25}]