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
ENST00000394631	[[110736665, 110736701], [110737308, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745893]]	[[110737320, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745587]]
ENST00000226796	[[110736708, 110736960], [110737308, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745893]]	[[110737320, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745587]]
ENST00000506840	[[110736790, 110736960], [110737308, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743722]]	None
ENST00000503671	[[110736983, 110737161], [110737308, 110737534], [110739091, 110739246], [110740156, 110740743]]	None
NM_032993	[[110736665, 110736701], [110737308, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745893]]	[[110737320, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745587]]
NM_018983	[[110736665, 110736960], [110737308, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745893]]	[[110737320, 110737534], [110739091, 110739246], [110740156, 110740216], [110743502, 110743644], [110745120, 110745189], [110745573, 110745587]]

Promoter

Chrom	Start	End	Description
chr4	110736659	110736694	CAGE_peak_1_at_GAR1_5end
chr4	110736896	110736941	CAGE_peak_2_at_GAR1_5end
chr4	110736945	110736958	CAGE_peak_3_at_GAR1_5end
chr4	110736965	110736976	CAGE_peak_4_at_GAR1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I109734	109734887	109737633	1.07	[{'connected_gene': 'PLA2G12A', 'score': 18.82}, {'connected_gene': 'CFI', 'score': 11.09}, {'connected_gene': 'GAR1', 'score': 9.84}]
chr4	GH04I109727	109727647	109731859	2.18	[{'connected_gene': 'PLA2G12A', 'score': 572.42}, {'connected_gene': 'SEC24B-AS1', 'score': 12.96}, {'connected_gene': 'CFI', 'score': 10.66}, {'connected_gene': 'GAR1', 'score': 10.19}, {'connected_gene': 'CASP6', 'score': 4.48}]
chr4	GH04I110192	110192876	110199852	2.62	[{'connected_gene': 'ELOVL6', 'score': 554.87}, {'connected_gene': 'SEC24B', 'score': 22.52}, {'connected_gene': 'GAR1', 'score': 20.72}, {'connected_gene': 'SETP20', 'score': 18.76}, {'connected_gene': 'CDC42P4', 'score': 13.01}, {'connected_gene': 'CASP6', 'score': 10.05}, {'connected_gene': 'ENSG00000250511', 'score': 9.83}, {'connected_gene': 'ENSG00000248200', 'score': 0.25}]
chr4	GH04I109184	109184001	109185828	0.96	[{'connected_gene': 'GAR1', 'score': 11.16}, {'connected_gene': 'GC04P109270', 'score': 0.18}, {'connected_gene': 'GC04P109269', 'score': 0.18}, {'connected_gene': 'COL25A1', 'score': 0.13}, {'connected_gene': 'GC04M108908', 'score': 0.07}]
chr4	GH04I109424	109424525	109424674	0.63	[{'connected_gene': 'GAR1', 'score': 10.11}, {'connected_gene': 'PLA2G12A', 'score': 9.66}, {'connected_gene': 'LRIT3', 'score': 9.26}, {'connected_gene': 'RBMXP4', 'score': 4.36}, {'connected_gene': 'SEC24B-AS1', 'score': 0.44}, {'connected_gene': 'SEC24B', 'score': 0.44}, {'connected_gene': 'PIR37678', 'score': 0.31}]
chr4	GH04I109814	109814555	109817692	2.05	[{'connected_gene': 'GAR1', 'score': 558.08}, {'connected_gene': 'ENSG00000272795', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 18.79}, {'connected_gene': 'SEC24B', 'score': 14.02}, {'connected_gene': 'CDC42P4', 'score': 13.04}, {'connected_gene': 'CASP6', 'score': 10.16}, {'connected_gene': 'LRIT3', 'score': 7.71}, {'connected_gene': 'GC04M109825', 'score': 0.44}]
chr4	GH04I109801	109801062	109803123	1.3	[{'connected_gene': 'CFI', 'score': 550.77}, {'connected_gene': 'LRIT3', 'score': 5.18}, {'connected_gene': 'GAR1', 'score': 5.1}, {'connected_gene': 'PLA2G12A', 'score': 0.19}]
chr4	GH04I109980	109980018	109981030	0.31	[{'connected_gene': 'EGF', 'score': 15.9}, {'connected_gene': 'ENSG00000250511', 'score': 10.89}, {'connected_gene': 'LRIT3', 'score': 10.18}, {'connected_gene': 'GAR1', 'score': 10.1}, {'connected_gene': 'GC04P109993', 'score': 0.39}]
chr4	GH04I109422	109422382	109423000	0.99	[{'connected_gene': 'SEC24B', 'score': 16.29}, {'connected_gene': 'CDC42P4', 'score': 13.45}, {'connected_gene': 'SETP20', 'score': 11.83}, {'connected_gene': 'CASP6', 'score': 10.2}, {'connected_gene': 'GAR1', 'score': 10.11}, {'connected_gene': 'OSTC', 'score': 9.9}, {'connected_gene': 'PLA2G12A', 'score': 9.66}, {'connected_gene': 'LRIT3', 'score': 9.25}, {'connected_gene': 'SEC24B-AS1', 'score': 0.39}, {'connected_gene': 'PIR37678', 'score': 0.31}]
chr4	GH04I109698	109698935	109700457	0.63	[{'connected_gene': 'GC04M109692', 'score': 550.77}, {'connected_gene': 'PLA2G12A', 'score': 12.33}, {'connected_gene': 'GAR1', 'score': 11.33}, {'connected_gene': 'CASP6', 'score': 0.39}, {'connected_gene': 'GC04M109713', 'score': 0.39}]
chr4	GH04I109813	109813601	109814000	0.49	[{'connected_gene': 'GC04P109812', 'score': 550.77}, {'connected_gene': 'GAR1', 'score': 550.77}, {'connected_gene': 'ENSG00000272795', 'score': 550.77}, {'connected_gene': 'PLA2G12A', 'score': 11.04}]