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
ENST00000537591	[[24667262, 24667572], [24687632, 24687921], [24698110, 24698295], [24701686, 24705293]]	[[24687909, 24687921], [24698110, 24698295], [24701686, 24701843]]
ENST00000230048	[[24667298, 24667572], [24698110, 24698295], [24701686, 24705274]]	[[24667491, 24667572], [24698110, 24698295], [24701686, 24701843]]
ENST00000476436	[[24687629, 24687921], [24698110, 24698295], [24701686, 24701942]]	None
NM_018473	[[24667262, 24667572], [24698110, 24698295], [24701686, 24705297]]	[[24667491, 24667572], [24698110, 24698295], [24701686, 24701843]]
NM_001160094	[[24667262, 24667572], [24687632, 24687921], [24698110, 24698295], [24701686, 24705297]]	[[24687909, 24687921], [24698110, 24698295], [24701686, 24701843]]

Promoter

Chrom	Start	End	Description
chr6	24667137	24667168	CAGE_peak_3_at_ACOT13_5end
chr6	24667257	24667365	CAGE_peak_1_at_ACOT13_5end
chr6	24667368	24667379	CAGE_peak_4_at_ACOT13_5end
chr6	24667383	24667426	CAGE_peak_2_at_ACOT13_5end
chr6	24667464	24667475	CAGE_peak_5_at_ACOT13_5end
chr6	24667553	24667557	CAGE_peak_7_at_ACOT13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I024708	24708484	24710105	0.59	[{'connected_gene': 'KIAA0319', 'score': 9.75}, {'connected_gene': 'ACOT13', 'score': 4.87}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}, {'connected_gene': 'C6orf62', 'score': 0.39}]
chr6	GH06I024645	24645257	24647120	1.95	[{'connected_gene': 'KIAA0319', 'score': 566.59}, {'connected_gene': 'ACOT13', 'score': 17.89}, {'connected_gene': 'TDP2', 'score': 11.91}, {'connected_gene': 'C6orf62', 'score': 6.35}, {'connected_gene': 'KRT8P43', 'score': 5.12}]
chr6	GH06I024672	24672386	24673305	0.69	[{'connected_gene': 'C6orf62', 'score': 19.94}, {'connected_gene': 'ACOT13', 'score': 10.81}, {'connected_gene': 'ENSG00000272345', 'score': 0.31}]
chr6	GH06I024710	24710557	24712005	0.49	[{'connected_gene': 'C6orf62', 'score': 18.38}, {'connected_gene': 'TDP2', 'score': 13.35}, {'connected_gene': 'KIAA0319', 'score': 8.04}, {'connected_gene': 'ACOT13', 'score': 4.91}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]
chr6	GH06I024716	24716996	24722842	2.36	[{'connected_gene': 'C6orf62', 'score': 573.96}, {'connected_gene': 'TDP2', 'score': 21.54}, {'connected_gene': 'ENSG00000272402', 'score': 20.49}, {'connected_gene': 'ACOT13', 'score': 15.51}, {'connected_gene': 'KIAA0319', 'score': 5.22}]
chr6	GH06I024522	24522097	24522981	1.07	[{'connected_gene': 'ALDH5A1', 'score': 26.18}, {'connected_gene': 'GPLD1', 'score': 12.31}, {'connected_gene': 'TDP2', 'score': 10.68}, {'connected_gene': 'ACOT13', 'score': 10.68}, {'connected_gene': 'PIR52732', 'score': 0.44}]
chr6	GH06I024655	24655176	24656780	0.38	[{'connected_gene': 'ACOT13', 'score': 5.81}, {'connected_gene': 'ENSG00000282804', 'score': 5.25}, {'connected_gene': 'KIAA0319', 'score': 0.44}, {'connected_gene': 'TDP2', 'score': 0.39}]
chr6	GH06I024657	24657973	24669533	2.79	[{'connected_gene': 'ACOT13', 'score': 561.15}, {'connected_gene': 'C6orf62', 'score': 23.36}, {'connected_gene': 'TDP2', 'score': 19.94}, {'connected_gene': 'KIAA0319', 'score': 12.88}, {'connected_gene': 'NUP50P2', 'score': 12.27}, {'connected_gene': 'ENSG00000272402', 'score': 12.24}, {'connected_gene': 'ENSG00000282804', 'score': 5.96}]
chr6	GH06I025331	25331400	25331601	0.56	[{'connected_gene': 'ACOT13', 'score': 4.74}, {'connected_gene': 'GC06M025334', 'score': 0.77}, {'connected_gene': 'GC06M025316', 'score': 0.39}, {'connected_gene': 'CARMIL1', 'score': 0.23}]
chr6	GH06I024689	24689729	24695995	0.8	[{'connected_gene': 'TDP2', 'score': 26.31}, {'connected_gene': 'KIAA0319', 'score': 17.25}, {'connected_gene': 'C6orf62', 'score': 12.48}, {'connected_gene': 'ACOT13', 'score': 12.11}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272345', 'score': 0.44}]
chr6	GH06I024685	24685943	24686180	0.22	[{'connected_gene': 'TDP2', 'score': 12.66}, {'connected_gene': 'KIAA0319', 'score': 10.48}, {'connected_gene': 'DCDC2', 'score': 5.44}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6	GH06I024683	24683327	24685253	0.76	[{'connected_gene': 'TDP2', 'score': 14.41}, {'connected_gene': 'KIAA0319', 'score': 11.05}, {'connected_gene': 'GMNN', 'score': 10.79}, {'connected_gene': 'ENSG00000272345', 'score': 0.37}, {'connected_gene': 'ACOT13', 'score': 0.37}]
chr6	GH06I024524	24524933	24525082	0.59	[{'connected_gene': 'TDP2', 'score': 10.68}, {'connected_gene': 'ACOT13', 'score': 10.68}, {'connected_gene': 'PIR52732', 'score': 0.77}, {'connected_gene': 'GPLD1', 'score': 0.31}, {'connected_gene': 'ALDH5A1', 'score': 0.29}]
chr6	GH06I024583	24583254	24585302	1.17	[{'connected_gene': 'PIR39702', 'score': 550.77}, {'connected_gene': 'PIR60469', 'score': 550.77}, {'connected_gene': 'ACOT13', 'score': 23.25}, {'connected_gene': 'KIAA0319', 'score': 16.18}, {'connected_gene': 'TDP2', 'score': 11.95}, {'connected_gene': 'GPLD1', 'score': 10.45}, {'connected_gene': 'ALDH5A1', 'score': 10.45}]
chr6	GH06I024698	24698599	24705714	0.63	[{'connected_gene': 'ENSG00000272345', 'score': 550.77}, {'connected_gene': 'TDP2', 'score': 24.74}, {'connected_gene': 'KIAA0319', 'score': 18.17}, {'connected_gene': 'ACOT13', 'score': 17.81}, {'connected_gene': 'C6orf62', 'score': 17.75}, {'connected_gene': 'GPLD1', 'score': 10.68}, {'connected_gene': 'ALDH5A1', 'score': 10.68}, {'connected_gene': 'ENSG00000272402', 'score': 0.77}]
chr6	GH06I024581	24581193	24581322	0.69	[{'connected_gene': 'PIR60469', 'score': 550.77}, {'connected_gene': 'TDP2', 'score': 11.57}, {'connected_gene': 'ACOT13', 'score': 11.57}, {'connected_gene': 'KIAA0319', 'score': 11.1}, {'connected_gene': 'GPLD1', 'score': 10.45}, {'connected_gene': 'ALDH5A1', 'score': 10.45}, {'connected_gene': 'PIR52732', 'score': 0.23}]