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
ENST00000397457	[[8013799, 8016061], [8026599, 8026658], [8041371, 8041501], [8062766, 8062849], [8064497, 8064647]]	[[8015881, 8016061], [8026599, 8026658], [8041371, 8041501], [8062766, 8062849], [8064497, 8064609]]
ENST00000244777	[[8014210, 8016061], [8026599, 8026658], [8027439, 8027632], [8041371, 8041501], [8062766, 8062849], [8064497, 8064626]]	[[8027612, 8027632], [8041371, 8041501], [8062766, 8062849], [8064497, 8064609]]
ENST00000543936	[[8015295, 8016061], [8026599, 8026658], [8041371, 8041501], [8054502, 8054605], [8062766, 8062849], [8064497, 8064629]]	[[8015881, 8016061], [8026599, 8026658], [8041371, 8041501], [8054502, 8054505]]
ENST00000475998	[[8015317, 8016061], [8018019, 8018292]]	None
ENST00000486432	[[8015889, 8016061], [8026599, 8026658], [8041371, 8041501], [8042079, 8042141]]	None
NM_001199322	[[8013799, 8016061], [8026599, 8026658], [8041371, 8041501], [8054502, 8054605], [8062766, 8062849], [8064497, 8064647]]	[[8015881, 8016061], [8026599, 8026658], [8041371, 8041501], [8054502, 8054505]]
NM_201280	[[8013799, 8016061], [8026599, 8026658], [8041371, 8041501], [8062766, 8062849], [8064497, 8064647]]	[[8015881, 8016061], [8026599, 8026658], [8041371, 8041501], [8062766, 8062849], [8064497, 8064609]]
NM_001199323	[[8013799, 8016061], [8026599, 8026658], [8062766, 8062849], [8064497, 8064647]]	[[8016042, 8016061], [8026599, 8026658], [8062766, 8062849], [8064497, 8064609]]

Promoter

Chrom	Start	End	Description
chr6	8064567	8064652	CAGE_peak_1_at_MUTED-TXNDC5_5end,CAGE_peak_1_at_MUTED_5end,CAGE_peak_2_at_TXNDC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I008079	8079801	8087134	1.67	[{'connected_gene': 'RIOK1', 'score': 10.57}, {'connected_gene': 'SNRNP48', 'score': 10.47}, {'connected_gene': 'EEF1E1', 'score': 6.9}, {'connected_gene': 'BLOC1S5', 'score': 5.3}, {'connected_gene': 'SCARNA27', 'score': 0.77}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.37}]
chr6	GH06I007914	7914871	7916093	1.01	[{'connected_gene': 'TXNDC5', 'score': 10.81}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'EEF1E1', 'score': 4.23}, {'connected_gene': 'SNRNP48', 'score': 1.34}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I007912	7912208	7912357	0.95	[{'connected_gene': 'TXNDC5', 'score': 550.77}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.48}, {'connected_gene': 'GC06P007902', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6	GH06I007887	7887548	7888673	0.31	[{'connected_gene': 'TXNDC5', 'score': 14.86}, {'connected_gene': 'BMP6', 'score': 11.24}, {'connected_gene': 'BLOC1S5', 'score': 10.72}, {'connected_gene': 'PIR41509', 'score': 0.44}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6	GH06I007908	7908601	7912011	2.41	[{'connected_gene': 'TXNDC5', 'score': 566.79}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.48}, {'connected_gene': 'LOC100506207', 'score': 4.24}, {'connected_gene': 'GC06P007902', 'score': 0.44}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6	GH06I007978	7978868	7978997	0.46	[{'connected_gene': 'TXNDC5', 'score': 10.78}, {'connected_gene': 'BLOC1S5', 'score': 10.77}, {'connected_gene': 'PIP5K1P1', 'score': 0.44}, {'connected_gene': 'GC06M007967', 'score': 0.44}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.17}]
chr6	GH06I007899	7899190	7900237	1.1	[{'connected_gene': 'TXNDC5', 'score': 15.41}, {'connected_gene': 'BLOC1S5', 'score': 11.17}, {'connected_gene': 'GC06P007902', 'score': 0.77}, {'connected_gene': 'PIR41509', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.1}]
chr6	GH06I007888	7888923	7890890	0.31	[{'connected_gene': 'BMP6', 'score': 11.24}, {'connected_gene': 'BLOC1S5', 'score': 10.54}, {'connected_gene': 'TXNDC5', 'score': 5.93}, {'connected_gene': 'PIR41509', 'score': 0.44}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.09}]
chr6	GH06I007996	7996474	7997505	1.47	[{'connected_gene': 'BMP6', 'score': 13.85}, {'connected_gene': 'BLOC1S5', 'score': 11.31}, {'connected_gene': 'TXNDC5', 'score': 3.61}, {'connected_gene': 'GC06P007990', 'score': 0.44}, {'connected_gene': 'PIR38170', 'score': 0.44}, {'connected_gene': 'PIR57650', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.2}]
chr6	GH06I007916	7916692	7918355	0.95	[{'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'TXNDC5', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I007725	7725908	7732830	2.62	[{'connected_gene': 'BMP6', 'score': 555.28}, {'connected_gene': 'LOC105374907', 'score': 550.77}, {'connected_gene': 'BLOC1S5', 'score': 10.99}, {'connected_gene': 'TXNDC5', 'score': 1.36}, {'connected_gene': 'GC06M007768', 'score': 0.23}]
chr6	GH06I008107	8107627	8109569	1.08	[{'connected_gene': 'BLOC1S5', 'score': 10.99}, {'connected_gene': 'EEF1E1', 'score': 6.79}, {'connected_gene': 'LOC100506207', 'score': 4.52}, {'connected_gene': 'GC06P008104', 'score': 0.77}, {'connected_gene': 'GC06P008121', 'score': 0.39}, {'connected_gene': 'GC06M008098', 'score': 0.31}]
chr6	GH06I008110	8110527	8111271	0.75	[{'connected_gene': 'BLOC1S5', 'score': 10.98}, {'connected_gene': 'EEF1E1', 'score': 6.61}, {'connected_gene': 'GC06P008104', 'score': 0.44}, {'connected_gene': 'GC06P008121', 'score': 0.39}, {'connected_gene': 'GC06M008098', 'score': 0.31}]
chr6	GH06I007999	7999466	8001353	0.74	[{'connected_gene': 'BLOC1S5', 'score': 19.91}, {'connected_gene': 'TXNDC5', 'score': 12.42}, {'connected_gene': 'BMP6', 'score': 10.85}, {'connected_gene': 'ENSG00000238221', 'score': 9.4}, {'connected_gene': 'PIR57650', 'score': 0.39}, {'connected_gene': 'PIR38170', 'score': 0.39}, {'connected_gene': 'GC06P007990', 'score': 0.39}, {'connected_gene': 'GC06M007999', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.21}]
chr6	GH06I007991	7991602	7993385	1.18	[{'connected_gene': 'BLOC1S5', 'score': 18.39}, {'connected_gene': 'BMP6', 'score': 11.06}, {'connected_gene': 'PIP5K1P1', 'score': 5.67}, {'connected_gene': 'RIOK1', 'score': 4.82}, {'connected_gene': 'PIR38170', 'score': 0.77}, {'connected_gene': 'GC06P007990', 'score': 0.77}, {'connected_gene': 'PIR57650', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.19}]
chr6	GH06I008006	8006201	8006600	0.77	[{'connected_gene': 'BLOC1S5', 'score': 19.28}, {'connected_gene': 'BMP6', 'score': 10.99}, {'connected_gene': 'PIR57650', 'score': 0.44}, {'connected_gene': 'GC06M007999', 'score': 0.39}, {'connected_gene': 'GC06P007990', 'score': 0.37}, {'connected_gene': 'PIR38170', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.22}]
chr6	GH06I007997	7997961	7998785	0.72	[{'connected_gene': 'BLOC1S5', 'score': 18.31}, {'connected_gene': 'BMP6', 'score': 11.06}, {'connected_gene': 'GC06P007990', 'score': 0.44}, {'connected_gene': 'PIR38170', 'score': 0.44}, {'connected_gene': 'PIR57650', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.2}]
chr6	GH06I007723	7723148	7723297	0.69	[{'connected_gene': 'BLOC1S5', 'score': 10.2}, {'connected_gene': 'BMP6', 'score': 0.77}, {'connected_gene': 'GC06M007704', 'score': 0.44}]
chr6	GH06I008206	8206504	8207847	0.46	[{'connected_gene': 'BLOC1S5', 'score': 11.25}, {'connected_gene': 'GC06P008175', 'score': 0.29}, {'connected_gene': 'GC06P008240', 'score': 0.29}, {'connected_gene': 'LOC105374910', 'score': 0.25}]
chr6	GH06I007741	7741943	7744091	0.43	[{'connected_gene': 'BLOC1S5', 'score': 10.25}, {'connected_gene': 'LOC105374907', 'score': 0.37}, {'connected_gene': 'BMP6', 'score': 0.37}, {'connected_gene': 'GC06M007768', 'score': 0.28}]
chr6	GH06I007690	7690615	7693048	1.3	[{'connected_gene': 'BLOC1S5', 'score': 10.03}, {'connected_gene': 'GC06M007686', 'score': 0.77}, {'connected_gene': 'GC06P007694', 'score': 0.77}, {'connected_gene': 'LOC105374906', 'score': 0.37}]
chr6	GH06I008047	8047570	8048437	0.74	[{'connected_gene': 'BLOC1S5', 'score': 5.7}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.37}, {'connected_gene': 'GC06M007999', 'score': 0.31}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.23}]
chr6	GH06I008063	8063266	8066095	2.11	[{'connected_gene': 'BLOC1S5', 'score': 561.03}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 550.77}, {'connected_gene': 'SCARNA27', 'score': 0.34}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.28}]
chr6	GH06I007685	7685008	7685177	0.54	[{'connected_gene': 'SLC35B3', 'score': 11.92}, {'connected_gene': 'RIOK1', 'score': 10.07}, {'connected_gene': 'BLOC1S5', 'score': 9.54}, {'connected_gene': 'GC06M007686', 'score': 0.77}, {'connected_gene': 'LOC105374906', 'score': 0.39}, {'connected_gene': 'GC06P007663', 'score': 0.34}]
chr6	GH06I007919	7919988	7920117	1.03	[{'connected_gene': 'SNRNP48', 'score': 11.89}, {'connected_gene': 'BLOC1S5', 'score': 10.09}, {'connected_gene': 'SLC35B3', 'score': 9.88}, {'connected_gene': 'TXNDC5', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I007426	7426632	7427482	0.81	[{'connected_gene': 'LOC102724234', 'score': 550.77}, {'connected_gene': 'DSP', 'score': 28.18}, {'connected_gene': 'RIOK1', 'score': 16.33}, {'connected_gene': 'BLOC1S5', 'score': 10.24}, {'connected_gene': 'GC06M007431', 'score': 0.44}]
chr6	GH06I007882	7882346	7883344	0.87	[{'connected_gene': 'PIR41509', 'score': 550.77}, {'connected_gene': 'TXNDC5', 'score': 17.18}, {'connected_gene': 'BMP6', 'score': 11.04}, {'connected_gene': 'BLOC1S5', 'score': 10.71}, {'connected_gene': 'GC06P007902', 'score': 0.34}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.09}]
chr6	GH06I007431	7431201	7432587	0.77	[{'connected_gene': 'GC06M007431', 'score': 550.77}, {'connected_gene': 'BLOC1S5', 'score': 21.87}, {'connected_gene': 'RIOK1', 'score': 19.57}, {'connected_gene': 'DSP', 'score': 11.16}, {'connected_gene': 'LOC102724234', 'score': 0.44}]
chr6	GH06I008029	8029201	8029400	0.31	[{'connected_gene': 'GC06M007999', 'score': 0.44}, {'connected_gene': 'BLOC1S5', 'score': 0.28}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.28}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.19}]
chr6	GH06I008028	8028001	8028601	0.54	[{'connected_gene': 'GC06M007999', 'score': 0.44}, {'connected_gene': 'BLOC1S5', 'score': 0.28}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.28}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.19}]