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
ENST00000244458	[[34433915, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503006]]	[[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000374043	[[34433915, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503006]]	[[34495171, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000493633	[[34452846, 34452921], [34494019, 34494145], [34495108, 34495491]]	None
ENST00000538621	[[34482663, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34502998]]	[[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
ENST00000486120	[[34482665, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329]]	None
ENST00000487760	[[34482666, 34482845], [34494019, 34494145], [34495108, 34495471]]	None
NM_020804	[[34433837, 34434047], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503000]]	[[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]
NM_001199583	[[34482648, 34482845], [34494019, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34503000]]	[[34494082, 34494145], [34495108, 34495265], [34496418, 34496654], [34497173, 34497329], [34497442, 34497618], [34498019, 34498140], [34498236, 34498364], [34499376, 34499564], [34500197, 34500307]]

Promoter

Chrom	Start	End	Description
chr6	34433844	34433921	CAGE_peak_1_at_PACSIN1_5end
chr6	34482603	34482614	CAGE_peak_3_at_PACSIN1_5end
chr6	34482630	34482655	CAGE_peak_2_at_PACSIN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I034551	34551916	34553429	0.57	[{'connected_gene': 'ZNF76', 'score': 15.59}, {'connected_gene': 'TAF11', 'score': 15.26}, {'connected_gene': 'LEMD2', 'score': 14.56}, {'connected_gene': 'ENSG00000272374', 'score': 11.08}, {'connected_gene': 'SPDEF', 'score': 0.77}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034546	34546493	34548286	0.82	[{'connected_gene': 'TAF11', 'score': 15.02}, {'connected_gene': 'RPS10', 'score': 13.07}, {'connected_gene': 'FANCE', 'score': 12.97}, {'connected_gene': 'RPL35P2', 'score': 12.39}, {'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6	GH06I034436	34436914	34437101	0.39	[{'connected_gene': 'RPS10', 'score': 9.85}, {'connected_gene': 'ANKS1A', 'score': 1.23}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.39}, {'connected_gene': 'PACSIN1', 'score': 0.31}]
chr6	GH06I034484	34484559	34486766	0.73	[{'connected_gene': 'UHRF1BP1', 'score': 5.09}, {'connected_gene': 'PACSIN1', 'score': 0.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6	GH06I034468	34468504	34468653	0.66	[{'connected_gene': 'UHRF1BP1', 'score': 5.42}, {'connected_gene': 'PACSIN1', 'score': 0.77}, {'connected_gene': 'SPDEF', 'score': 0.17}]
chr6	GH06I034544	34544666	34545573	1.27	[{'connected_gene': 'UHRF1BP1', 'score': 4.6}, {'connected_gene': 'SPDEF', 'score': 2.16}, {'connected_gene': 'PACSIN1', 'score': 0.18}]
chr6	GH06I034526	34526382	34527975	1.36	[{'connected_gene': 'DEF6', 'score': 4.17}, {'connected_gene': 'SPDEF', 'score': 0.31}, {'connected_gene': 'PACSIN1', 'score': 0.21}]
chr6	GH06I034102	34102433	34104792	0.54	[{'connected_gene': 'PACSIN1', 'score': 5.46}, {'connected_gene': 'UHRF1BP1', 'score': 5.1}, {'connected_gene': 'GRM4', 'score': 0.23}, {'connected_gene': 'PIR53321', 'score': 0.17}]
chr6	GH06I034465	34465800	34466201	1.74	[{'connected_gene': 'PACSIN1', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 4.44}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.28}, {'connected_gene': 'RPS10', 'score': 0.28}]
chr6	GH06I034514	34514823	34514882	0.95	[{'connected_gene': 'PACSIN1', 'score': 550.25}, {'connected_gene': 'SPDEF', 'score': 0.26}]
chr6	GH06I034490	34490251	34491544	0.97	[{'connected_gene': 'PACSIN1', 'score': 0.34}, {'connected_gene': 'SPDEF', 'score': 0.2}]
chr6	GH06I034483	34483399	34483458	0.5	[{'connected_gene': 'PACSIN1', 'score': 550.37}, {'connected_gene': 'SPDEF', 'score': 0.19}]
chr6	GH06I034460	34460004	34460133	0.76	[{'connected_gene': 'PACSIN1', 'score': 0.44}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.29}, {'connected_gene': 'RPS10', 'score': 0.29}]
chr6	GH06I034462	34462387	34463075	1.05	[{'connected_gene': 'PACSIN1', 'score': 0.77}, {'connected_gene': 'RPS10-NUDT3', 'score': 0.28}, {'connected_gene': 'RPS10', 'score': 0.28}]
chr6	GH06I034142	34142594	34142939	0.79	[{'connected_gene': 'GRM4', 'score': 25.59}, {'connected_gene': 'IP6K3', 'score': 11.04}, {'connected_gene': 'MLN', 'score': 10.47}, {'connected_gene': 'PACSIN1', 'score': 1.45}, {'connected_gene': 'PIR53321', 'score': 0.13}]
chr6	GH06I034143	34143673	34144016	0.95	[{'connected_gene': 'GRM4', 'score': 52.31}, {'connected_gene': 'MLN', 'score': 10.93}, {'connected_gene': 'LEMD2', 'score': 10.72}, {'connected_gene': 'PACSIN1', 'score': 1.64}, {'connected_gene': 'PIR53321', 'score': 0.13}]
chr6	GH06I034554	34554842	34555140	0.89	[{'connected_gene': 'SPDEF', 'score': 552.5}, {'connected_gene': 'UHRF1BP1', 'score': 4.41}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034555	34555244	34556896	1.44	[{'connected_gene': 'SPDEF', 'score': 550.77}, {'connected_gene': 'UHRF1BP1', 'score': 5.62}, {'connected_gene': 'PACSIN1', 'score': 0.16}]
chr6	GH06I034536	34536744	34536893	0.9	[{'connected_gene': 'SPDEF', 'score': 0.37}, {'connected_gene': 'PACSIN1', 'score': 0.19}]
chr6	GH06I034531	34531377	34532740	0.86	[{'connected_gene': 'SPDEF', 'score': 13.3}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6	GH06I034550	34550705	34551876	0.31	[{'connected_gene': 'SPDEF', 'score': 0.44}, {'connected_gene': 'PACSIN1', 'score': 0.17}]
chr6	GH06I034533	34533909	34535126	0.2	[{'connected_gene': 'SPDEF', 'score': 12.91}, {'connected_gene': 'PACSIN1', 'score': 0.2}]
chr6	GH06I034144	34144462	34144811	0.96	[{'connected_gene': 'LEMD2', 'score': 21.31}, {'connected_gene': 'HCG25', 'score': 15.61}, {'connected_gene': 'PHF1', 'score': 12.92}, {'connected_gene': 'GRM4', 'score': 12.69}, {'connected_gene': 'RXRB', 'score': 10.93}, {'connected_gene': 'MLN', 'score': 10.92}, {'connected_gene': 'VPS52', 'score': 10.4}, {'connected_gene': 'CUTA', 'score': 10.02}, {'connected_gene': 'PACSIN1', 'score': 1.26}, {'connected_gene': 'PIR53321', 'score': 0.13}]