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
ENST00000538782	[[74034323, 74034833], [74035981, 74036100], [74040091, 74040294], [74041611, 74042357]]	[[74036048, 74036100], [74040091, 74040294], [74041611, 74042217]]
ENST00000238651	[[74035762, 74036587], [74040091, 74040294], [74041611, 74042357]]	[[74035944, 74036587], [74040091, 74040294], [74041611, 74042217]]
ENST00000557857	[[74041007, 74041111], [74041611, 74041905]]	None
NR_046028	[[74034323, 74034833], [74035981, 74036100], [74040091, 74040294], [74041611, 74042362]]	None
NM_006821	[[74035762, 74036587], [74040091, 74040294], [74041611, 74042362]]	[[74035944, 74036587], [74040091, 74040294], [74041611, 74042217]]

Promoter

Chrom	Start	End	Description
chr14	74034310	74034345	CAGE_peak_4_at_ACOT2_5end
chr14	74035911	74035922	CAGE_peak_2_at_ACOT2_5end
chr14	74035970	74036005	CAGE_peak_1_at_ACOT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I072800	72800800	72803629	1.08	[{'connected_gene': 'RGS6', 'score': 4.73}, {'connected_gene': 'ACOT2', 'score': 4.55}, {'connected_gene': 'GC14M072730', 'score': 0.34}, {'connected_gene': 'ENSG00000206751', 'score': 0.23}, {'connected_gene': 'GC14M072854', 'score': 0.23}, {'connected_gene': 'DPF3', 'score': 0.16}]
chr14	GH14I072891	72891653	72895542	2.13	[{'connected_gene': 'DPF3', 'score': 556.3}, {'connected_gene': 'DCAF4', 'score': 17.47}, {'connected_gene': 'PSEN1', 'score': 11.97}, {'connected_gene': 'RBM25', 'score': 11.58}, {'connected_gene': 'ZNF410', 'score': 10.9}, {'connected_gene': 'ELMSAN1', 'score': 10.22}, {'connected_gene': 'ACOT2', 'score': 6.99}, {'connected_gene': 'LOC101928123', 'score': 5.79}, {'connected_gene': 'ENSG00000206751', 'score': 0.26}, {'connected_gene': 'GC14M072854', 'score': 0.26}]
chr14	GH14I072863	72863150	72865893	0.62	[{'connected_gene': 'DPF3', 'score': 16.23}, {'connected_gene': 'DCAF4', 'score': 7.85}, {'connected_gene': 'LOC100420966', 'score': 7.47}, {'connected_gene': 'ACOT2', 'score': 5.23}, {'connected_gene': 'LOC100506476', 'score': 4.15}, {'connected_gene': 'ENSG00000206751', 'score': 0.39}, {'connected_gene': 'GC14M072854', 'score': 0.39}]
chr14	GH14I072790	72790724	72792893	0.66	[{'connected_gene': 'DPF3', 'score': 9.92}, {'connected_gene': 'ACOT2', 'score': 4.55}, {'connected_gene': 'DCAF4', 'score': 4.29}, {'connected_gene': 'GC14M072730', 'score': 0.39}, {'connected_gene': 'ENSG00000206751', 'score': 0.21}, {'connected_gene': 'GC14M072854', 'score': 0.21}]
chr14	GH14I072830	72830781	72831807	0.83	[{'connected_gene': 'DPF3', 'score': 8.7}, {'connected_gene': 'ACOT2', 'score': 5.35}, {'connected_gene': 'LOC100420966', 'score': 4.74}, {'connected_gene': 'DCAF4', 'score': 4.52}, {'connected_gene': 'ENSG00000206751', 'score': 0.34}, {'connected_gene': 'GC14M072854', 'score': 0.34}, {'connected_gene': 'GC14M072730', 'score': 0.23}]
chr14	GH14I072786	72786696	72790023	0.63	[{'connected_gene': 'DPF3', 'score': 5.02}, {'connected_gene': 'ACOT2', 'score': 4.55}, {'connected_gene': 'GC14M072730', 'score': 0.39}, {'connected_gene': 'ENSG00000206751', 'score': 0.21}, {'connected_gene': 'GC14M072854', 'score': 0.21}]
chr14	GH14I072810	72810353	72810462	0.4	[{'connected_gene': 'DPF3', 'score': 5.43}, {'connected_gene': 'ACOT2', 'score': 5.36}, {'connected_gene': 'GC14M072730', 'score': 0.29}, {'connected_gene': 'ENSG00000206751', 'score': 0.26}, {'connected_gene': 'GC14M072854', 'score': 0.26}]
chr14	GH14I072792	72792993	72795192	0.2	[{'connected_gene': 'DPF3', 'score': 14.8}, {'connected_gene': 'ACOT2', 'score': 4.55}, {'connected_gene': 'GC14M072730', 'score': 0.37}, {'connected_gene': 'ENSG00000206751', 'score': 0.22}, {'connected_gene': 'GC14M072854', 'score': 0.22}]
chr14	GH14I072780	72780428	72782710	1.16	[{'connected_gene': 'DPF3', 'score': 15.59}, {'connected_gene': 'ACOT2', 'score': 4.72}, {'connected_gene': 'GC14M072730', 'score': 0.77}, {'connected_gene': 'ENSG00000206751', 'score': 0.19}, {'connected_gene': 'GC14M072854', 'score': 0.19}]
chr14	GH14I073525	73525504	73527306	0.74	[{'connected_gene': 'ACOT1', 'score': 15.51}, {'connected_gene': 'NT5CP2', 'score': 9.52}, {'connected_gene': 'PNMA1', 'score': 9.39}, {'connected_gene': 'HEATR4', 'score': 5.42}, {'connected_gene': 'ACOT2', 'score': 4.97}, {'connected_gene': 'ENSG00000258695', 'score': 0.77}, {'connected_gene': 'GC14M073540', 'score': 0.39}]
chr14	GH14I073536	73536360	73539837	2.1	[{'connected_gene': 'ACOT1', 'score': 558.57}, {'connected_gene': 'NT5CP2', 'score': 550.77}, {'connected_gene': 'GC14M073540', 'score': 550.77}, {'connected_gene': 'ACOT2', 'score': 7.12}, {'connected_gene': 'BBOF1', 'score': 5.57}, {'connected_gene': 'ENSG00000258695', 'score': 0.37}, {'connected_gene': 'HEATR4', 'score': 0.34}]
chr14	GH14I072865	72865912	72866621	0.2	[{'connected_gene': 'DCAF4', 'score': 6.02}, {'connected_gene': 'ACOT2', 'score': 5.24}, {'connected_gene': 'DPF3', 'score': 5.15}, {'connected_gene': 'ENSG00000206751', 'score': 0.39}, {'connected_gene': 'GC14M072854', 'score': 0.39}]
chr14	GH14I072832	72832855	72833715	0.2	[{'connected_gene': 'DCAF4', 'score': 5.98}, {'connected_gene': 'ACOT2', 'score': 4.93}, {'connected_gene': 'ENSG00000206751', 'score': 0.34}, {'connected_gene': 'GC14M072854', 'score': 0.34}, {'connected_gene': 'GC14M072730', 'score': 0.22}, {'connected_gene': 'DPF3', 'score': 0.21}]
chr14	GH14I072839	72839300	72840394	0.38	[{'connected_gene': 'DCAF4', 'score': 7.69}, {'connected_gene': 'LOC100420966', 'score': 4.83}, {'connected_gene': 'ACOT2', 'score': 4.48}, {'connected_gene': 'ENSG00000206751', 'score': 0.39}, {'connected_gene': 'GC14M072854', 'score': 0.39}, {'connected_gene': 'DPF3', 'score': 0.23}, {'connected_gene': 'GC14M072730', 'score': 0.21}]
chr14	GH14I073567	73567081	73570832	2	[{'connected_gene': 'ACOT2', 'score': 556.04}, {'connected_gene': 'GC14M073564', 'score': 550.77}, {'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'ACOT1', 'score': 16.19}, {'connected_gene': 'ENSG00000258695', 'score': 10.29}, {'connected_gene': 'DCAF4', 'score': 9.87}, {'connected_gene': 'LOC100506476', 'score': 9.59}, {'connected_gene': 'DNAL1', 'score': 5.07}]
chr14	GH14I072825	72825041	72826896	0.91	[{'connected_gene': 'ACOT2', 'score': 6.16}, {'connected_gene': 'DCAF4', 'score': 5.69}, {'connected_gene': 'ENSG00000206751', 'score': 0.31}, {'connected_gene': 'GC14M072854', 'score': 0.31}, {'connected_gene': 'GC14M072730', 'score': 0.25}, {'connected_gene': 'DPF3', 'score': 0.2}]
chr14	GH14I072822	72822703	72824671	0.83	[{'connected_gene': 'ACOT2', 'score': 5.78}, {'connected_gene': 'DCAF4', 'score': 5.69}, {'connected_gene': 'ENSG00000206751', 'score': 0.31}, {'connected_gene': 'GC14M072854', 'score': 0.31}, {'connected_gene': 'GC14M072730', 'score': 0.25}, {'connected_gene': 'DPF3', 'score': 0.19}]
chr14	GH14I073566	73566401	73567000	0.38	[{'connected_gene': 'ACOT2', 'score': 571.72}, {'connected_gene': 'GC14M073564', 'score': 550.77}, {'connected_gene': 'ENSG00000258695', 'score': 13.05}, {'connected_gene': 'LOC100506476', 'score': 10.53}, {'connected_gene': 'HEATR4', 'score': 0.44}]
chr14	GH14I073599	73599182	73600282	0.31	[{'connected_gene': 'RNU6-240P', 'score': 11.01}, {'connected_gene': 'ENSG00000223300', 'score': 9.81}, {'connected_gene': 'PTGR2', 'score': 9.81}, {'connected_gene': 'LOC100506476', 'score': 8.03}, {'connected_gene': 'ACOT2', 'score': 6.3}, {'connected_gene': 'ACOT4', 'score': 4.78}, {'connected_gene': 'ACOT6', 'score': 0.39}]
chr14	GH14I074217	74217564	74218428	1	[{'connected_gene': 'LOC105370564', 'score': 550.77}, {'connected_gene': 'LIN52', 'score': 10.69}, {'connected_gene': 'ALDH6A1', 'score': 10.69}, {'connected_gene': 'SYNDIG1L', 'score': 9.3}, {'connected_gene': 'PTGR2', 'score': 6.12}, {'connected_gene': 'FAM161B', 'score': 5.8}, {'connected_gene': 'ACOT2', 'score': 5.15}, {'connected_gene': 'VSX2', 'score': 0.34}, {'connected_gene': 'GC14M074212', 'score': 0.06}]
chr14	GH14I072798	72798241	72799363	0.2	[{'connected_gene': 'LOC100420966', 'score': 4.95}, {'connected_gene': 'ACOT2', 'score': 4.55}, {'connected_gene': 'GC14M072730', 'score': 0.34}, {'connected_gene': 'ENSG00000206751', 'score': 0.23}, {'connected_gene': 'GC14M072854', 'score': 0.23}, {'connected_gene': 'DPF3', 'score': 0.15}]
chr14	GH14I073570	73570857	73571046	0.68	[{'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'NT5CP1', 'score': 550.77}, {'connected_gene': 'ACOT1', 'score': 35.51}, {'connected_gene': 'ACOT2', 'score': 0.77}]
chr14	GH14I073571	73571077	73571286	0.68	[{'connected_gene': 'GC14M073568', 'score': 550.77}, {'connected_gene': 'NT5CP1', 'score': 550.77}, {'connected_gene': 'ACOT2', 'score': 0.77}]
chr14	GH14I073402	73402864	73403590	0.59	[{'connected_gene': 'ENSG00000258944', 'score': 11.71}, {'connected_gene': 'RNU6-419P', 'score': 10.96}, {'connected_gene': 'ACOT2', 'score': 5.74}, {'connected_gene': 'NUMB', 'score': 4.82}, {'connected_gene': 'GC14P073395', 'score': 0.44}, {'connected_gene': 'ENSG00000251393', 'score': 0.22}]