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
ENST00000546278	[[24495079, 24495130], [24495472, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24534474]]	[[24495488, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]
ENST00000357578	[[24495079, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24537435]]	[[24495224, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]
ENST00000491546	[[24495094, 24495578], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533985]]	[[24495224, 24495578], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]
ENST00000348925	[[24495196, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24512057, 24512096], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24534531]]	[[24495224, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24512057, 24512096], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]
ENST00000479394	[[24522865, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24534285]]	None
ENST00000492697	[[24532237, 24532405], [24533734, 24534036]]	None
NM_001080	[[24495196, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24537435]]	[[24495224, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]
NM_170740	[[24495196, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24512057, 24512096], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24537435]]	[[24495224, 24495578], [24502750, 24502834], [24503490, 24503661], [24505096, 24505213], [24512057, 24512096], [24515394, 24515538], [24520628, 24520772], [24522994, 24523153], [24528224, 24528394], [24532346, 24532405], [24533734, 24533940]]

Promoter

Chrom	Start	End	Description
chr6	24495020	24495033	CAGE_peak_5_at_ALDH5A1_5end
chr6	24495034	24495054	CAGE_peak_7_at_ALDH5A1_5end
chr6	24495067	24495096	CAGE_peak_2_at_ALDH5A1_5end
chr6	24495098	24495109	CAGE_peak_6_at_ALDH5A1_5end
chr6	24495168	24495184	CAGE_peak_3_at_ALDH5A1_5end
chr6	24495185	24495209	CAGE_peak_1_at_ALDH5A1_5end
chr6	24522825	24522828	CAGE_peak_29_at_ALDH5A1_5end
chr6	24522856	24522861	CAGE_peak_21_at_ALDH5A1_5end
chr6	24522868	24522871	CAGE_peak_28_at_ALDH5A1_5end
chr6	24522893	24522949	CAGE_peak_4_at_ALDH5A1_5end
chr6	24522955	24522965	CAGE_peak_14_at_ALDH5A1_5end
chr6	24522979	24522984	CAGE_peak_25_at_ALDH5A1_5end
chr6	24522988	24522997	CAGE_peak_17_at_ALDH5A1_5end
chr6	24523002	24523015	CAGE_peak_11_at_ALDH5A1_5end
chr6	24523018	24523029	CAGE_peak_16_at_ALDH5A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I024925	24925753	24942162	2.58	[{'connected_gene': 'RIPOR2', 'score': 557.12}, {'connected_gene': 'LOC105374981', 'score': 550.77}, {'connected_gene': 'NUP50P2', 'score': 13.04}, {'connected_gene': 'ENSG00000272053', 'score': 5.21}, {'connected_gene': 'TDP2', 'score': 4.22}, {'connected_gene': 'ALDH5A1', 'score': 2.64}, {'connected_gene': 'C6orf62', 'score': 1.36}, {'connected_gene': 'MTCO2P33', 'score': 0.39}]
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	GH06I024494	24494400	24496004	2.02	[{'connected_gene': 'ALDH5A1', 'score': 570.38}, {'connected_gene': 'GPLD1', 'score': 550.77}]
chr6	GH06I024504	24504490	24505768	0.9	[{'connected_gene': 'ALDH5A1', 'score': 16.13}, {'connected_gene': 'GPLD1', 'score': 0.44}, {'connected_gene': 'PIR52732', 'score': 0.34}]
chr6	GH06I024451	24451703	24452545	0.62	[{'connected_gene': 'ALDH5A1', 'score': 15.03}, {'connected_gene': 'PIR53932', 'score': 0.31}, {'connected_gene': 'GPLD1', 'score': 0.26}]
chr6	GH06I024399	24399304	24404562	2.26	[{'connected_gene': 'MRS2', 'score': 588.36}, {'connected_gene': 'PIR56278', 'score': 550.77}, {'connected_gene': 'ALDH5A1', 'score': 13.95}, {'connected_gene': 'DCDC2', 'score': 0.37}]
chr6	GH06I024431	24431133	24431262	0.65	[{'connected_gene': 'MRS2', 'score': 33.46}, {'connected_gene': 'PIR53932', 'score': 0.44}, {'connected_gene': 'GPLD1', 'score': 0.21}, {'connected_gene': 'ALDH5A1', 'score': 0.21}]
chr6	GH06I024427	24427936	24429354	0.84	[{'connected_gene': 'MRS2', 'score': 47.61}, {'connected_gene': 'RNU6-391P', 'score': 10.08}, {'connected_gene': 'PIR53932', 'score': 0.44}, {'connected_gene': 'GPLD1', 'score': 0.2}, {'connected_gene': 'ALDH5A1', 'score': 0.2}]
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	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	GH06I024946	24946831	24955815	1.48	[{'connected_gene': 'TDP2', 'score': 10.99}, {'connected_gene': 'PPIAP29', 'score': 6.02}, {'connected_gene': 'C6orf62', 'score': 2.17}, {'connected_gene': 'KIAA0319', 'score': 1.43}, {'connected_gene': 'ALDH5A1', 'score': 1.27}, {'connected_gene': 'MTCO2P33', 'score': 0.77}, {'connected_gene': 'LOC105374981', 'score': 0.37}, {'connected_gene': 'RIPOR2', 'score': 0.16}]
chr6	GH06I024489	24489561	24489620	0.86	[{'connected_gene': 'GPLD1', 'score': 550.44}, {'connected_gene': 'ALDH5A1', 'score': 0.44}, {'connected_gene': 'PIR53932', 'score': 0.2}]
chr6	GH06I024498	24498370	24498494	0.22	[{'connected_gene': 'GPLD1', 'score': 0.77}, {'connected_gene': 'ALDH5A1', 'score': 0.77}, {'connected_gene': 'PIR52732', 'score': 0.31}]
chr6	GH06I024799	24799585	24799976	0.7	[{'connected_gene': 'C6orf229', 'score': 550.77}, {'connected_gene': 'GMNN', 'score': 5.72}, {'connected_gene': 'ALDH5A1', 'score': 3.28}, {'connected_gene': 'DCDC2', 'score': 3.18}, {'connected_gene': 'GPLD1', 'score': 1.58}, {'connected_gene': 'ENSG00000282804', 'score': 0.39}]
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}]
chr6	GH06I024517	24517286	24518554	0.56	[{'connected_gene': 'PIR52732', 'score': 0.39}, {'connected_gene': 'GPLD1', 'score': 0.34}, {'connected_gene': 'ALDH5A1', 'score': 0.34}]