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
ENST00000264258	[[101618176, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101623729]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101622843]]
ENST00000409000	[[101618690, 101618777], [101619163, 101619270], [101620619, 101621066]]	[[101619163, 101619270], [101620619, 101620752]]
ENST00000409028	[[101618744, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101635459, 101636190]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101635459, 101635500]]
ENST00000409320	[[101618754, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622880]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622553]]
ENST00000409733	[[101618754, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101622881]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101622843]]
ENST00000409650	[[101618754, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101634350, 101634751]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101634350, 101634367]]
ENST00000409038	[[101618754, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101634320, 101634768]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101634320, 101634367]]
ENST00000419276	[[101618772, 101618777], [101619163, 101619270], [101620619, 101620823], [101622420, 101622885]]	[[101619163, 101619270], [101620619, 101620752]]
ENST00000456292	[[101619152, 101619270], [101620619, 101620745], [101622420, 101622533]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533]]
ENST00000409711	[[101619152, 101619270], [101620619, 101622829]]	[[101619163, 101619270], [101620619, 101620752]]
ENST00000441435	[[101619200, 101619270], [101620619, 101620745], [101622420, 101622533], [101640086, 101640494]]	[[101619200, 101619270], [101620619, 101620745], [101622420, 101622533], [101640086, 101640103]]
NM_000993	[[101618690, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101622885]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101622811, 101622843]]
NM_001099693	[[101618690, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622885]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622553]]
NM_001098577	[[101618690, 101618777], [101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101635459, 101636155]]	[[101619163, 101619270], [101620619, 101620745], [101622420, 101622533], [101635459, 101635500]]

Promoter

Chrom	Start	End	Description
chr2	101618729	101618761	CAGE_peak_1_at_RPL31_5end
chr2	101618965	101619066	CAGE_peak_2_at_RPL31_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I100588	100588001	100588600	1.38	[{'connected_gene': 'PDCL3', 'score': 13.19}, {'connected_gene': 'CHST10', 'score': 10.3}, {'connected_gene': 'RPL31', 'score': 1.44}, {'connected_gene': 'HMGN2P22', 'score': 0.77}]
chr2	GH02I100579	100579981	100582189	1.14	[{'connected_gene': 'PDCL3', 'score': 11.08}, {'connected_gene': 'RPL31', 'score': 2.15}, {'connected_gene': 'HMGN2P22', 'score': 0.39}]
chr2	GH02I101047	101047019	101048239	0.58	[{'connected_gene': 'RPL31', 'score': 10.86}, {'connected_gene': 'ENSG00000223947', 'score': 10.86}, {'connected_gene': 'NPAS2', 'score': 9.95}, {'connected_gene': 'ENSG00000232034', 'score': 9.95}, {'connected_gene': 'LOC101927142', 'score': 9.79}, {'connected_gene': 'SNORD89', 'score': 4.79}, {'connected_gene': 'LOC105373510', 'score': 0.34}, {'connected_gene': 'BBIP1P1', 'score': 0.34}, {'connected_gene': 'TBC1D8', 'score': 0.08}]
chr2	GH02I101160	101160619	101160768	0.31	[{'connected_gene': 'RPL31', 'score': 10.73}, {'connected_gene': 'ENSG00000223947', 'score': 10.73}, {'connected_gene': 'LOC101927142', 'score': 10.11}, {'connected_gene': 'NPAS2', 'score': 10.08}, {'connected_gene': 'ENSG00000232034', 'score': 9.0}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.44}, {'connected_gene': 'TBC1D8', 'score': 0.16}, {'connected_gene': 'CNOT11', 'score': 0.16}]
chr2	GH02I101163	101163019	101163248	0.54	[{'connected_gene': 'RPL31', 'score': 11.08}, {'connected_gene': 'ENSG00000223947', 'score': 11.08}, {'connected_gene': 'LOC101927142', 'score': 10.11}, {'connected_gene': 'NPAS2', 'score': 10.08}, {'connected_gene': 'ENSG00000232034', 'score': 9.0}, {'connected_gene': 'TBC1D8-AS1', 'score': 8.97}, {'connected_gene': 'TBC1D8', 'score': 0.17}, {'connected_gene': 'CNOT11', 'score': 0.17}]
chr2	GH02I101190	101190801	101192000	0.46	[{'connected_gene': 'RPL31', 'score': 10.61}, {'connected_gene': 'ENSG00000223947', 'score': 10.61}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.28}, {'connected_gene': 'TBC1D8', 'score': 0.21}, {'connected_gene': 'CNOT11', 'score': 0.21}]
chr2	GH02I101185	101185839	101185968	0.2	[{'connected_gene': 'RPL31', 'score': 10.62}, {'connected_gene': 'ENSG00000223947', 'score': 10.62}, {'connected_gene': 'TBC1D8-AS1', 'score': 0.29}, {'connected_gene': 'TBC1D8', 'score': 0.2}, {'connected_gene': 'CNOT11', 'score': 0.2}]
chr2	GH02I100880	100880739	100884831	1.36	[{'connected_gene': 'NPAS2', 'score': 11.29}, {'connected_gene': 'ENSG00000232034', 'score': 11.29}, {'connected_gene': 'RPL31', 'score': 6.03}, {'connected_gene': 'GC02M100833', 'score': 0.26}, {'connected_gene': 'LOC101927142', 'score': 0.16}]
chr2	GH02I100653	100653279	100654354	0.42	[{'connected_gene': 'NPAS2', 'score': 10.22}, {'connected_gene': 'LOC101927142', 'score': 10.17}, {'connected_gene': 'RPL31', 'score': 1.37}, {'connected_gene': 'NANOGNBP1', 'score': 0.77}, {'connected_gene': 'LINC01849', 'score': 0.23}]
chr2	GH02I101305	101305030	101312247	2.61	[{'connected_gene': 'RNF149', 'score': 581.7}, {'connected_gene': 'LOC105373512', 'score': 550.77}, {'connected_gene': 'MIR5696', 'score': 550.77}, {'connected_gene': 'SNORD89', 'score': 39.09}, {'connected_gene': 'IL1R1', 'score': 10.75}, {'connected_gene': 'MAP4K4', 'score': 5.26}, {'connected_gene': 'RPL31', 'score': 1.32}, {'connected_gene': 'GC02M101274', 'score': 0.28}]
chr2	GH02I100603	100603623	100603736	0.53	[{'connected_gene': 'LINC01849', 'score': 550.77}, {'connected_gene': 'PDCL3', 'score': 11.18}, {'connected_gene': 'RPL31', 'score': 11.18}, {'connected_gene': 'ENSG00000223947', 'score': 11.18}, {'connected_gene': 'GC02P100600', 'score': 0.77}]
chr2	GH02I101077	101077566	101079301	0.31	[{'connected_gene': 'LOC101927142', 'score': 18.35}, {'connected_gene': 'RPL31', 'score': 10.14}, {'connected_gene': 'ENSG00000223947', 'score': 10.14}, {'connected_gene': 'NPAS2', 'score': 9.64}, {'connected_gene': 'TBC1D8', 'score': 4.83}, {'connected_gene': 'GC02P101087', 'score': 0.44}, {'connected_gene': 'GC02P101072', 'score': 0.39}]
chr2	GH02I101026	101026345	101026711	0.43	[{'connected_gene': 'LOC101927142', 'score': 19.48}, {'connected_gene': 'RPL31', 'score': 11.31}, {'connected_gene': 'ENSG00000223947', 'score': 11.31}, {'connected_gene': 'NPAS2', 'score': 9.68}, {'connected_gene': 'LOC105373510', 'score': 0.77}, {'connected_gene': 'BBIP1P1', 'score': 0.26}, {'connected_gene': 'TBC1D8', 'score': 0.07}]
chr2	GH02I101080	101080577	101082286	0.79	[{'connected_gene': 'LOC101927142', 'score': 20.5}, {'connected_gene': 'RPL31', 'score': 10.14}, {'connected_gene': 'ENSG00000223947', 'score': 10.14}, {'connected_gene': 'NPAS2', 'score': 9.64}, {'connected_gene': 'TBC1D8-AS1', 'score': 6.54}, {'connected_gene': 'TBC1D8', 'score': 5.36}, {'connected_gene': 'GC02P101087', 'score': 0.44}, {'connected_gene': 'GC02P101072', 'score': 0.39}]
chr2	GH02I101075	101075344	101077036	0.2	[{'connected_gene': 'LOC101927142', 'score': 16.7}, {'connected_gene': 'RPL31', 'score': 10.15}, {'connected_gene': 'ENSG00000223947', 'score': 10.15}, {'connected_gene': 'NPAS2', 'score': 9.64}, {'connected_gene': 'TBC1D8-AS1', 'score': 4.98}, {'connected_gene': 'GC02P101072', 'score': 0.44}, {'connected_gene': 'GC02P101087', 'score': 0.39}, {'connected_gene': 'TBC1D8', 'score': 0.1}]
chr2	GH02I101007	101007559	101009059	0.62	[{'connected_gene': 'LOC101927142', 'score': 24.56}, {'connected_gene': 'NPAS2', 'score': 10.78}, {'connected_gene': 'GC02P101011', 'score': 0.77}, {'connected_gene': 'RPL31', 'score': 0.44}, {'connected_gene': 'ENSG00000223947', 'score': 0.44}, {'connected_gene': 'TBC1D8', 'score': 0.07}]
chr2	GH02I100945	100945231	100946850	0.2	[{'connected_gene': 'LOC101927142', 'score': 11.68}, {'connected_gene': 'NPAS2', 'score': 11.51}, {'connected_gene': 'ENSG00000232034', 'score': 10.54}, {'connected_gene': 'RPL31', 'score': 4.29}, {'connected_gene': 'GC02M100833', 'score': 0.15}]
chr2	GH02I101001	101001435	101005354	2.1	[{'connected_gene': 'ENSG00000223947', 'score': 558.8}, {'connected_gene': 'RPL31', 'score': 550.77}, {'connected_gene': 'LOC101927142', 'score': 23.84}, {'connected_gene': 'NPAS2', 'score': 11.36}, {'connected_gene': 'GC02P101011', 'score': 0.44}]
chr2	GH02I101066	101066571	101068775	0.2	[{'connected_gene': 'GC02P101072', 'score': 550.77}, {'connected_gene': 'BBIP1P1', 'score': 550.77}, {'connected_gene': 'LOC101927142', 'score': 10.75}, {'connected_gene': 'TBC1D8', 'score': 5.95}, {'connected_gene': 'TBC1D8-AS1', 'score': 5.14}, {'connected_gene': 'RPL31', 'score': 4.3}, {'connected_gene': 'LOC105373510', 'score': 0.26}]
chr2	GH02I101011	101011159	101011308	0.38	[{'connected_gene': 'GC02P101011', 'score': 550.77}, {'connected_gene': 'LOC101927142', 'score': 10.83}, {'connected_gene': 'NPAS2', 'score': 10.62}, {'connected_gene': 'RPL31', 'score': 0.44}, {'connected_gene': 'ENSG00000223947', 'score': 0.44}, {'connected_gene': 'TBC1D8', 'score': 0.07}]
chr2	GH02I101012	101012739	101012908	0.59	[{'connected_gene': 'GC02P101011', 'score': 550.77}, {'connected_gene': 'LOC101927142', 'score': 10.81}, {'connected_gene': 'NPAS2', 'score': 10.62}, {'connected_gene': 'ENSG00000223947', 'score': 7.07}, {'connected_gene': 'LOC100420429', 'score': 0.77}, {'connected_gene': 'RPL31', 'score': 0.39}, {'connected_gene': 'TBC1D8', 'score': 0.07}]