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
ENST00000486853	[[132129155, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172563]]	None
ENST00000360971	[[132129155, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711], [132186005, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198301], [132199681, 132199733], [132201019, 132201174], [132203484, 132203614], [132204833, 132204914], [132206070, 132206203], [132207701, 132207864], [132211480, 132216295]]	[[132129175, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711], [132186005, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198301], [132199681, 132199733], [132201019, 132201174], [132203484, 132203614], [132204833, 132204914], [132206070, 132206203], [132207701, 132207864], [132211480, 132211651]]
ENST00000513998	[[132129173, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711], [132186031, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198301], [132199681, 132199733], [132201019, 132201174], [132203484, 132203614], [132204833, 132204914], [132206070, 132206203], [132207701, 132207864], [132211480, 132212004]]	[[132129175, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711]]
ENST00000459624	[[132182749, 132182844], [132185645, 132185711], [132186031, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198997]]	None
NM_006208	[[132129155, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711], [132186005, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198301], [132199681, 132199733], [132201019, 132201174], [132203484, 132203614], [132204833, 132204914], [132206070, 132206203], [132207701, 132207864], [132211480, 132216295]]	[[132129175, 132129415], [132168915, 132168988], [132171129, 132171246], [132172281, 132172407], [132173314, 132173375], [132176065, 132176163], [132179807, 132179887], [132181526, 132181646], [132182734, 132182844], [132185645, 132185711], [132186005, 132186078], [132189157, 132189266], [132190497, 132190629], [132193209, 132193241], [132194062, 132194190], [132195407, 132195477], [132196915, 132197003], [132198131, 132198301], [132199681, 132199733], [132201019, 132201174], [132203484, 132203614], [132204833, 132204914], [132206070, 132206203], [132207701, 132207864], [132211480, 132211651]]

Promoter

Chrom	Start	End	Description
chr6	132129151	132129166	CAGE_peak_1_at_ENPP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I131753	131753848	131756721	1.1	[{'connected_gene': 'MED23', 'score': 17.39}, {'connected_gene': 'ENPP1', 'score': 5.4}, {'connected_gene': 'GC06M131781', 'score': 0.31}, {'connected_gene': 'CTAGE9', 'score': 0.26}]
chr6	GH06I132510	132510540	132514972	2.55	[{'connected_gene': 'STX7', 'score': 563.72}, {'connected_gene': 'MED23', 'score': 19.19}, {'connected_gene': 'SNORA33', 'score': 12.24}, {'connected_gene': 'LOC100421775', 'score': 10.25}, {'connected_gene': 'ENPP1', 'score': 9.86}, {'connected_gene': 'VNN2', 'score': 9.56}, {'connected_gene': 'VNN1', 'score': 2.74}, {'connected_gene': 'MOXD1', 'score': 0.14}]
chr6	GH06I131807	131807161	131808803	1.95	[{'connected_gene': 'ENPP1', 'score': 550.77}, {'connected_gene': 'MED23', 'score': 17.35}, {'connected_gene': 'LOC100421775', 'score': 6.73}, {'connected_gene': 'MIR548H5', 'score': 0.37}]
chr6	GH06I131772	131772990	131774092	0.2	[{'connected_gene': 'ENPP1', 'score': 8.68}, {'connected_gene': 'LOC100421775', 'score': 4.65}, {'connected_gene': 'GC06M131781', 'score': 0.44}, {'connected_gene': 'CTAGE9', 'score': 0.21}]
chr6	GH06I131892	131892445	131896185	0.92	[{'connected_gene': 'ENPP1', 'score': 8.51}, {'connected_gene': 'ENSG00000236673', 'score': 0.44}, {'connected_gene': 'LOC100421775', 'score': 0.2}]
chr6	GH06I132493	132493608	132501188	1.2	[{'connected_gene': 'MOXD1', 'score': 11.08}, {'connected_gene': 'STX7', 'score': 9.48}, {'connected_gene': 'ENPP1', 'score': 4.35}]
chr6	GH06I131823	131823401	131823550	0.63	[{'connected_gene': 'RN7SKP245', 'score': 0.77}, {'connected_gene': 'LOC100421775', 'score': 0.77}, {'connected_gene': 'ENPP1', 'score': 0.37}]
chr6	GH06I131862	131862181	131865362	0.98	[{'connected_gene': 'LOC100421775', 'score': 0.28}, {'connected_gene': 'ENSG00000236673', 'score': 0.28}, {'connected_gene': 'ENPP1', 'score': 0.22}]
chr6	GH06I131831	131831541	131831690	0.57	[{'connected_gene': 'LOC100421775', 'score': 0.77}, {'connected_gene': 'ENPP1', 'score': 0.34}, {'connected_gene': 'ENSG00000236673', 'score': 0.19}]
chr6	GH06I131858	131858643	131860216	0.49	[{'connected_gene': 'LOC100421775', 'score': 0.29}, {'connected_gene': 'ENSG00000236673', 'score': 0.26}, {'connected_gene': 'ENPP1', 'score': 0.23}]
chr6	GH06I131843	131843346	131845965	0.96	[{'connected_gene': 'LOC100421775', 'score': 6.0}, {'connected_gene': 'ENPP1', 'score': 4.49}, {'connected_gene': 'ENSG00000236673', 'score': 0.22}]
chr6	GH06I131836	131836601	131836750	0.86	[{'connected_gene': 'LOC100421775', 'score': 0.44}, {'connected_gene': 'ENPP1', 'score': 0.31}, {'connected_gene': 'ENSG00000236673', 'score': 0.2}]
chr6	GH06I131826	131826021	131826170	0.87	[{'connected_gene': 'LOC100421775', 'score': 0.77}, {'connected_gene': 'RN7SKP245', 'score': 0.44}, {'connected_gene': 'ENPP1', 'score': 0.37}]
chr6	GH06I131819	131819549	131820599	0.64	[{'connected_gene': 'SELENOKP2', 'score': 550.77}, {'connected_gene': 'RN7SKP245', 'score': 550.77}, {'connected_gene': 'GC06M131821', 'score': 550.77}, {'connected_gene': 'GC06P131821', 'score': 550.77}, {'connected_gene': 'LOC100421775', 'score': 9.39}, {'connected_gene': 'ENPP1', 'score': 0.39}]
chr6	GH06I131901	131901561	131901710	0.2	[{'connected_gene': 'ENSG00000236673', 'score': 550.77}, {'connected_gene': 'ENPP1', 'score': 4.78}, {'connected_gene': 'LOC100421775', 'score': 0.19}]