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
ENST00000479309	[[169690641, 169690732], [169730094, 169730193], [169732581, 169732686], [169733747, 169733894], [169745735, 169745803]]	None
ENST00000282074	[[169727403, 169728065], [169730094, 169730193], [169732581, 169732686], [169733747, 169733894], [169745735, 169745801], [169745896, 169746043], [169746827, 169746955]]	[[169727940, 169728065], [169730094, 169730193], [169732581, 169732686], [169733747, 169733894], [169745735, 169745801], [169745896, 169746029]]
ENST00000451987	[[169733747, 169733894], [169745735, 169745801], [169745896, 169746043], [169747038, 169747196], [169769709, 169769787]]	[[169733747, 169733894], [169745735, 169745801], [169745896, 169746029]]
ENST00000472216	[[169733747, 169733894], [169741357, 169741417], [169745735, 169745801], [169745896, 169746043], [169747038, 169747196], [169769705, 169769881]]	None
NM_020675	[[169727400, 169728065], [169730094, 169730193], [169732581, 169732686], [169733747, 169733894], [169745735, 169745801], [169745896, 169746043], [169746827, 169746944]]	[[169727940, 169728065], [169730094, 169730193], [169732581, 169732686], [169733747, 169733894], [169745735, 169745801], [169745896, 169746029]]

Promoter

Chrom	Start	End	Description
chr2	169746878	169746970	CAGE_peak_1_at_SPC25_5end
chr2	169769806	169769861	CAGE_peak_2_at_SPC25_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I169010	169010629	169013562	1.44	[{'connected_gene': 'ABCB11', 'score': 12.31}, {'connected_gene': 'SSB', 'score': 11.01}, {'connected_gene': 'ENSG00000235321', 'score': 10.8}, {'connected_gene': 'SPC25', 'score': 0.15}]
chr2	GH02I169031	169031314	169031373	0.99	[{'connected_gene': 'ABCB11', 'score': 550.77}, {'connected_gene': 'SPC25', 'score': 0.13}]
chr2	GH02I168991	168991577	168993413	1.03	[{'connected_gene': 'ABCB11', 'score': 11.23}, {'connected_gene': 'SPC25', 'score': 0.18}]
chr2	GH02I168959	168959931	168960311	0.22	[{'connected_gene': 'ABCB11', 'score': 36.27}, {'connected_gene': 'ENSG00000235321', 'score': 11.54}, {'connected_gene': 'SPC25', 'score': 0.25}]
chr2	GH02I168849	168849691	168849840	0.69	[{'connected_gene': 'G6PC2', 'score': 11.68}, {'connected_gene': 'GC02P168847', 'score': 0.77}, {'connected_gene': 'SPC25', 'score': 0.21}, {'connected_gene': 'NOSTRIN', 'score': 0.21}]
chr2	GH02I168901	168901242	168901301	0.5	[{'connected_gene': 'G6PC2', 'score': 550.77}, {'connected_gene': 'SPC25', 'score': 0.39}]
chr2	GH02I168907	168907565	168908031	0.2	[{'connected_gene': 'G6PC2', 'score': 6.06}, {'connected_gene': 'SPC25', 'score': 0.44}]
chr2	GH02I168889	168889418	168891100	2.05	[{'connected_gene': 'SPC25', 'score': 550.34}, {'connected_gene': 'PPIG', 'score': 12.59}, {'connected_gene': 'PHOSPHO2', 'score': 10.38}, {'connected_gene': 'G6PC2', 'score': 0.39}, {'connected_gene': 'GC02P168847', 'score': 0.26}]
chr2	GH02I168935	168935649	168937187	1.2	[{'connected_gene': 'SPC25', 'score': 12.22}, {'connected_gene': 'G6PC2', 'score': 5.38}, {'connected_gene': 'NOSTRIN', 'score': 4.92}, {'connected_gene': 'ABCB11', 'score': 0.15}]
chr2	GH02I168913	168913201	168913400	0.73	[{'connected_gene': 'SPC25', 'score': 550.77}, {'connected_gene': 'G6PC2', 'score': 0.39}]
chr2	GH02I168908	168908391	168908560	0.69	[{'connected_gene': 'SPC25', 'score': 0.77}, {'connected_gene': 'G6PC2', 'score': 0.44}]
chr2	GH02I168781	168781291	168781440	0.49	[{'connected_gene': 'SPC25', 'score': 10.28}, {'connected_gene': 'CERS6-AS1', 'score': 0.44}, {'connected_gene': 'NOSTRIN', 'score': 0.44}, {'connected_gene': 'RNU6-766P', 'score': 0.09}, {'connected_gene': 'GC02M168607', 'score': 0.09}]
chr2	GH02I168964	168964030	168966087	0.52	[{'connected_gene': 'ENSG00000235321', 'score': 10.92}, {'connected_gene': 'ABCB11', 'score': 10.6}, {'connected_gene': 'SPC25', 'score': 0.23}]
chr2	GH02I168961	168961751	168961900	0.85	[{'connected_gene': 'ENSG00000235321', 'score': 11.55}, {'connected_gene': 'ABCB11', 'score': 10.44}, {'connected_gene': 'SPC25', 'score': 0.25}]
chr2	GH02I168851	168851911	168852060	0.96	[{'connected_gene': 'GC02P168847', 'score': 0.77}, {'connected_gene': 'G6PC2', 'score': 0.25}, {'connected_gene': 'SPC25', 'score': 0.21}, {'connected_gene': 'NOSTRIN', 'score': 0.2}]
chr2	GH02I168856	168856751	168856900	0.54	[{'connected_gene': 'GC02P168847', 'score': 0.44}, {'connected_gene': 'G6PC2', 'score': 0.26}, {'connected_gene': 'SPC25', 'score': 0.22}, {'connected_gene': 'NOSTRIN', 'score': 0.19}]