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
ENST00000370589	[[85483764, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511045], [85514078, 85514129]]	[[85484805, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511043]]
ENST00000474447	[[85483765, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85489203]]	None
ENST00000341115	[[85484590, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85510815, 85511045], [85514078, 85514129]]	[[85484805, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85510815, 85511043]]
ENST00000370587	[[85490223, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511045], [85512992, 85513292], [85514078, 85514153]]	[[85491833, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511043]]
ENST00000490600	[[85490239, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85502392, 85502551], [85506692, 85506860], [85510815, 85511045], [85513257, 85513292], [85514078, 85514182]]	[[85502521, 85502551], [85506692, 85506860], [85510815, 85511043]]
ENST00000475312	[[85490506, 85491771], [85491854, 85491967], [85494788, 85495642]]	None
NM_018298	[[85483764, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511045], [85514078, 85514223]]	[[85484805, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85506692, 85506860], [85510815, 85511043]]
NM_001253693	[[85483764, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85510815, 85511045], [85514078, 85514223]]	[[85484805, 85484940], [85486752, 85486959], [85487752, 85487875], [85487981, 85488083], [85491621, 85491771], [85491854, 85491967], [85494788, 85494888], [85498378, 85498475], [85498554, 85498639], [85499780, 85499934], [85510815, 85511043]]

Promoter

Chrom	Start	End	Description
chr1	85514120	85514202	CAGE_peak_1_at_MCOLN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I085091	85091601	85092200	0.46	[{'connected_gene': 'MCOLN3', 'score': 11.61}, {'connected_gene': 'SYDE2', 'score': 10.91}, {'connected_gene': 'WDR63', 'score': 4.94}, {'connected_gene': 'MIR4423', 'score': 0.26}]
chr1	GH01I085047	85047382	85050515	1.97	[{'connected_gene': 'MCOLN3', 'score': 570.02}, {'connected_gene': 'ENSG00000271576', 'score': 16.2}, {'connected_gene': 'MCOLN2', 'score': 13.64}, {'connected_gene': 'ZNHIT6', 'score': 11.95}, {'connected_gene': 'WDR63', 'score': 4.38}, {'connected_gene': 'MIR4423', 'score': 0.18}]
chr1	GH01I084959	84959845	84960982	0.74	[{'connected_gene': 'MCOLN2', 'score': 49.86}, {'connected_gene': 'MCOLN3', 'score': 28.98}, {'connected_gene': 'LPAR3', 'score': 10.25}]
chr1	GH01I084994	84994094	84997601	1.88	[{'connected_gene': 'MCOLN2', 'score': 619.82}, {'connected_gene': 'MCOLN3', 'score': 11.39}, {'connected_gene': 'LPAR3', 'score': 10.06}]
chr1	GH01I084968	84968801	84970607	0.74	[{'connected_gene': 'MCOLN2', 'score': 61.02}, {'connected_gene': 'MCOLN3', 'score': 17.24}, {'connected_gene': 'WDR63', 'score': 12.15}, {'connected_gene': 'LPAR3', 'score': 9.91}]
chr1	GH01I084991	84991466	84991960	0.67	[{'connected_gene': 'MCOLN2', 'score': 15.41}, {'connected_gene': 'LPAR3', 'score': 12.54}, {'connected_gene': 'MCOLN3', 'score': 11.38}, {'connected_gene': 'BCL10', 'score': 2.77}, {'connected_gene': 'GNG5', 'score': 1.86}]
chr1	GH01I084913	84913304	84914290	0.79	[{'connected_gene': 'LPAR3', 'score': 12.4}, {'connected_gene': 'MCOLN3', 'score': 10.13}, {'connected_gene': 'MCOLN2', 'score': 0.18}]
chr1	GH01I085027	85027003	85028002	0.59	[{'connected_gene': 'LPAR3', 'score': 9.47}, {'connected_gene': 'GC01M085017', 'score': 0.44}, {'connected_gene': 'MCOLN3', 'score': 0.34}, {'connected_gene': 'WDR63', 'score': 0.31}]
chr1	GH01I085061	85061478	85063025	1.88	[{'connected_gene': 'WDR63', 'score': 558.0}, {'connected_gene': 'MCOLN2', 'score': 37.94}, {'connected_gene': 'MCOLN3', 'score': 0.39}, {'connected_gene': 'MIR4423', 'score': 0.19}]
chr1	GH01I084618	84618725	84621647	1.46	[{'connected_gene': 'LINC01461', 'score': 550.77}, {'connected_gene': 'ENSG00000271576', 'score': 49.82}, {'connected_gene': 'SPATA1', 'score': 27.01}, {'connected_gene': 'CTBS', 'score': 17.51}, {'connected_gene': 'GNG5', 'score': 15.46}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'RPF1', 'score': 10.88}, {'connected_gene': 'SAMD13', 'score': 9.92}, {'connected_gene': 'MCOLN3', 'score': 4.68}, {'connected_gene': 'GC01M084581', 'score': 0.28}]
chr1	GH01I085019	85019518	85020767	0.2	[{'connected_gene': 'GC01M085017', 'score': 550.77}, {'connected_gene': 'MCOLN3', 'score': 16.8}, {'connected_gene': 'MCOLN2', 'score': 9.36}, {'connected_gene': 'WDR63', 'score': 0.34}]