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
ENST00000231887	[[184908411, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971736, 184971886]]	[[184910013, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971736, 184971810]]
ENST00000456310	[[184909757, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971613, 184971836]]	[[184910013, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953140]]
ENST00000483104	[[184922443, 184922545], [184953077, 184953250]]	None
ENST00000475987	[[184935981, 184936028], [184944615, 184944646], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971736, 184971837]]	None
ENST00000440662	[[184965732, 184966305], [184971736, 184971819]]	[[184966148, 184966305], [184971736, 184971810]]
ENST00000465178	[[184966220, 184966305], [184997966, 184998112], [184999697, 184999778]]	None
NM_001166415	[[184908411, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971613, 184971886]]	[[184910013, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953140]]
NM_001966	[[184908411, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971736, 184971886]]	[[184910013, 184911275], [184922203, 184922545], [184935923, 184936028], [184947219, 184947331], [184953077, 184953250], [184966201, 184966305], [184971736, 184971810]]

Promoter

Chrom	Start	End	Description
chr3	184971817	184971844	CAGE_peak_1_at_EHHADH_5end
chr3	184971853	184971871	CAGE_peak_2_at_EHHADH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I185325	185325649	185333278	1.63	[{'connected_gene': 'MAP3K13', 'score': 38.4}, {'connected_gene': 'EHHADH', 'score': 11.33}, {'connected_gene': 'RPL4P4', 'score': 0.17}]
chr3	GH03I185316	185316316	185318582	1.54	[{'connected_gene': 'MAP3K13', 'score': 38.96}, {'connected_gene': 'EHHADH', 'score': 11.91}, {'connected_gene': 'C3orf70', 'score': 9.96}, {'connected_gene': 'RPL4P4', 'score': 0.15}]
chr3	GH03I185351	185351216	185352089	0.59	[{'connected_gene': 'MAP3K13', 'score': 15.73}, {'connected_gene': 'EHHADH', 'score': 10.96}, {'connected_gene': 'C3orf70', 'score': 9.29}, {'connected_gene': 'RPL4P4', 'score': 0.2}]
chr3	GH03I185308	185308689	185310251	0.67	[{'connected_gene': 'MAP3K13', 'score': 38.74}, {'connected_gene': 'EHHADH', 'score': 11.7}, {'connected_gene': 'C3orf70', 'score': 9.4}, {'connected_gene': 'RPL4P4', 'score': 0.14}]
chr3	GH03I185282	185282191	185283904	1.99	[{'connected_gene': 'MAP3K13', 'score': 576.96}, {'connected_gene': 'EHHADH', 'score': 550.77}, {'connected_gene': 'C3orf70', 'score': 6.02}, {'connected_gene': 'RPL4P4', 'score': 0.12}]
chr3	GH03I185250	185250067	185251600	0.77	[{'connected_gene': 'VPS8', 'score': 16.78}, {'connected_gene': 'MAP3K13', 'score': 8.56}, {'connected_gene': 'MIR5588', 'score': 0.77}, {'connected_gene': 'EIF2S2P2', 'score': 0.77}, {'connected_gene': 'EHHADH', 'score': 0.29}]
chr3	GH03I185216	185216201	185217322	0.74	[{'connected_gene': 'VPS8', 'score': 12.62}, {'connected_gene': 'GC03M185246', 'score': 0.31}, {'connected_gene': 'EHHADH-AS1', 'score': 0.23}, {'connected_gene': 'EHHADH', 'score': 0.2}]
chr3	GH03I185207	185207454	185208482	0.77	[{'connected_gene': 'VPS8', 'score': 15.09}, {'connected_gene': 'C3orf70', 'score': 10.79}, {'connected_gene': 'MAP3K13', 'score': 8.52}, {'connected_gene': 'GC03M185246', 'score': 0.28}, {'connected_gene': 'EHHADH-AS1', 'score': 0.25}, {'connected_gene': 'EHHADH', 'score': 0.19}]
chr3	GH03I185199	185199859	185201363	0.38	[{'connected_gene': 'VPS8', 'score': 15.88}, {'connected_gene': 'C3orf70', 'score': 10.32}, {'connected_gene': 'EHHADH-AS1', 'score': 0.28}, {'connected_gene': 'GC03M185246', 'score': 0.25}, {'connected_gene': 'EHHADH', 'score': 0.18}]
chr3	GH03I185309	185308213	185308382	0.62	[{'connected_gene': 'EHHADH', 'score': 11.7}, {'connected_gene': 'MAP3K13', 'score': 11.7}, {'connected_gene': 'C3orf70', 'score': 9.4}, {'connected_gene': 'RPL4P4', 'score': 0.14}]
chr3	GH03I185319	185319136	185320144	0.2	[{'connected_gene': 'EHHADH', 'score': 11.9}, {'connected_gene': 'MAP3K13', 'score': 11.9}, {'connected_gene': 'C3orf70', 'score': 9.96}, {'connected_gene': 'RPL4P4', 'score': 0.15}]
chr3	GH03I185280	185280853	185281002	0.81	[{'connected_gene': 'EHHADH', 'score': 550.77}, {'connected_gene': 'MAGEF1', 'score': 9.88}, {'connected_gene': 'MIR5588', 'score': 0.31}]
chr3	GH03I185676	185676853	185677805	0.83	[{'connected_gene': 'IGF2BP2', 'score': 11.63}, {'connected_gene': 'IGF2BP2-AS1', 'score': 11.6}, {'connected_gene': 'EHHADH', 'score': 4.38}, {'connected_gene': 'PIR53085', 'score': 0.28}]
chr3	GH03I185253	185253273	185254662	1.97	[{'connected_gene': 'MIR5588', 'score': 550.77}, {'connected_gene': 'EHHADH', 'score': 550.31}, {'connected_gene': 'VPS8', 'score': 16.77}, {'connected_gene': 'MAP3K13', 'score': 7.13}]
chr3	GH03I185354	185354213	185354442	0.72	[{'connected_gene': 'ENSG00000272970', 'score': 17.69}, {'connected_gene': 'MAP3K13', 'score': 16.76}, {'connected_gene': 'THPO', 'score': 14.39}, {'connected_gene': 'MAGEF1', 'score': 14.27}, {'connected_gene': 'EHHADH', 'score': 10.95}, {'connected_gene': 'C3orf70', 'score': 9.29}, {'connected_gene': 'RPL4P4', 'score': 0.21}]
chr3	GH03I185246	185246548	185246607	0.68	[{'connected_gene': 'GC03M185246', 'score': 550.77}, {'connected_gene': 'EIF2S2P2', 'score': 550.77}, {'connected_gene': 'EHHADH', 'score': 550.28}, {'connected_gene': 'MIR5588', 'score': 0.44}]
chr3	GH03I185225	185225633	185225802	0.31	[{'connected_gene': 'GC03M185246', 'score': 0.34}, {'connected_gene': 'EHHADH', 'score': 0.22}, {'connected_gene': 'EHHADH-AS1', 'score': 0.21}]