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
ENST00000361271	[[17631957, 17632445], [17636203, 17636382], [17641288, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659376]]	[[17632362, 17632445], [17636203, 17636382], [17641288, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659338]]
ENST00000498812	[[17632273, 17632445], [17636203, 17636382], [17645558, 17645647], [17645724, 17645743]]	[[17636376, 17636382], [17645558, 17645647], [17645724, 17645743]]
ENST00000471481	[[17636207, 17636382], [17641288, 17641410], [17645558, 17645827]]	None
ENST00000466335	[[17641072, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659234]]	[[17641266, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659234]]
ENST00000326961	[[17657475, 17657963], [17659081, 17659366]]	[[17657743, 17657963], [17659081, 17659338]]
NM_014241	[[17631957, 17632445], [17636203, 17636382], [17641288, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659373]]	[[17632362, 17632445], [17636203, 17636382], [17641288, 17641410], [17645558, 17645647], [17645724, 17645743], [17645928, 17646046], [17659081, 17659338]]

Promoter

Chrom	Start	End	Description
chr10	17659306	17659317	CAGE_peak_3_at_PTPLA_5end
chr10	17659325	17659355	CAGE_peak_1_at_PTPLA_5end
chr10	17659357	17659401	CAGE_peak_2_at_PTPLA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I017735	17735109	17735734	0.31	[{'connected_gene': 'HACD1', 'score': 12.0}, {'connected_gene': 'STAM', 'score': 10.74}, {'connected_gene': 'TMEM236', 'score': 0.37}, {'connected_gene': 'LOC105376438', 'score': 0.28}]
chr10	GH10I017703	17703619	17704270	0.2	[{'connected_gene': 'HACD1', 'score': 11.63}, {'connected_gene': 'STAM', 'score': 11.62}, {'connected_gene': 'LOC105376438', 'score': 0.77}, {'connected_gene': 'TMEM236', 'score': 0.25}]
chr10	GH10I018239	18239946	18241279	0.2	[{'connected_gene': 'HACD1', 'score': 10.89}, {'connected_gene': 'ENSG00000235020', 'score': 0.34}, {'connected_gene': 'CACNB2', 'score': 0.15}]
chr10	GH10I018215	18215072	18215241	0.56	[{'connected_gene': 'HACD1', 'score': 10.98}, {'connected_gene': 'ENSG00000235020', 'score': 0.25}, {'connected_gene': 'CACNB2', 'score': 0.19}]
chr10	GH10I018216	18216632	18216741	0.46	[{'connected_gene': 'HACD1', 'score': 10.98}, {'connected_gene': 'ENSG00000235020', 'score': 0.26}, {'connected_gene': 'CACNB2', 'score': 0.18}]
chr10	GH10I018245	18245089	18245099	0.24	[{'connected_gene': 'HACD1', 'score': 10.89}, {'connected_gene': 'CACNB2', 'score': 1.3}, {'connected_gene': 'ENSG00000235020', 'score': 0.37}]
chr10	GH10I017616	17616201	17618360	1.97	[{'connected_gene': 'HACD1', 'score': 550.77}, {'connected_gene': 'TMEM236', 'score': 6.81}, {'connected_gene': 'VIM', 'score': 5.07}, {'connected_gene': 'ENSG00000280126', 'score': 0.39}]
chr10	GH10I017497	17497801	17498000	0.2	[{'connected_gene': 'HACD1', 'score': 10.96}, {'connected_gene': 'ST8SIA6', 'score': 10.73}, {'connected_gene': 'STAM', 'score': 10.13}, {'connected_gene': 'GC10M017482', 'score': 0.37}, {'connected_gene': 'PRPF38AP2', 'score': 0.18}]
chr10	GH10I017586	17586801	17587400	0.54	[{'connected_gene': 'HACD1', 'score': 17.01}, {'connected_gene': 'ST8SIA6', 'score': 11.38}, {'connected_gene': 'TMEM236', 'score': 5.24}, {'connected_gene': 'PRPF38AP2', 'score': 0.44}, {'connected_gene': 'ENSG00000280126', 'score': 0.37}]
chr10	GH10I017460	17460182	17461439	0.52	[{'connected_gene': 'HACD1', 'score': 10.81}, {'connected_gene': 'ST8SIA6', 'score': 9.12}, {'connected_gene': 'LOC105376437', 'score': 0.39}]
chr10	GH10I017438	17438789	17439976	0.49	[{'connected_gene': 'HACD1', 'score': 10.95}, {'connected_gene': 'LOC105376436', 'score': 0.77}, {'connected_gene': 'ST8SIA6', 'score': 0.37}]
chr10	GH10I017585	17585001	17585200	0.46	[{'connected_gene': 'HACD1', 'score': 16.81}, {'connected_gene': 'PRPF38AP2', 'score': 0.44}, {'connected_gene': 'ENSG00000280126', 'score': 0.37}]
chr10	GH10I017335	17335202	17335331	0.38	[{'connected_gene': 'HACD1', 'score': 10.53}, {'connected_gene': 'ST8SIA6-AS1', 'score': 0.23}, {'connected_gene': 'GC10P017237', 'score': 0.15}, {'connected_gene': 'ST8SIA6', 'score': 0.13}]
chr10	GH10I017607	17607642	17607791	0.66	[{'connected_gene': 'HACD1', 'score': 5.08}, {'connected_gene': 'ENSG00000280126', 'score': 0.77}]
chr10	GH10I017712	17712994	17713413	0.61	[{'connected_gene': 'STAM', 'score': 23.51}, {'connected_gene': 'HACD1', 'score': 11.8}, {'connected_gene': 'VIM', 'score': 5.23}, {'connected_gene': 'SLC39A12', 'score': 4.23}, {'connected_gene': 'LOC105376438', 'score': 0.39}, {'connected_gene': 'TMEM236', 'score': 0.28}]
chr10	GH10I017654	17654958	17657506	1.55	[{'connected_gene': 'STAM', 'score': 22.9}, {'connected_gene': 'HACD1', 'score': 11.19}, {'connected_gene': 'ST8SIA6', 'score': 3.14}, {'connected_gene': 'LOC105376438', 'score': 0.26}]
chr10	GH10I017671	17671462	17671611	0.68	[{'connected_gene': 'STAM', 'score': 22.68}, {'connected_gene': 'HACD1', 'score': 10.34}, {'connected_gene': 'LOC105376438', 'score': 0.31}]
chr10	GH10I017672	17672450	17674841	1.26	[{'connected_gene': 'STAM', 'score': 25.01}, {'connected_gene': 'HACD1', 'score': 10.33}, {'connected_gene': 'LOC105376438', 'score': 0.31}]
chr10	GH10I017599	17599222	17599371	0.49	[{'connected_gene': 'STAM', 'score': 11.31}, {'connected_gene': 'ENSG00000280126', 'score': 0.77}, {'connected_gene': 'HACD1', 'score': 0.37}, {'connected_gene': 'PRPF38AP2', 'score': 0.34}]
chr10	GH10I017642	17642362	17651947	2.46	[{'connected_gene': 'STAM', 'score': 563.65}, {'connected_gene': 'LOC105376438', 'score': 12.96}, {'connected_gene': 'HACD1', 'score': 11.13}, {'connected_gene': 'STAM-AS1', 'score': 0.77}, {'connected_gene': 'GC10P017641', 'score': 0.44}]
chr10	GH10I017504	17504388	17508274	0.99	[{'connected_gene': 'ST8SIA6', 'score': 18.3}, {'connected_gene': 'HACD1', 'score': 11.03}, {'connected_gene': 'STAM', 'score': 10.14}, {'connected_gene': 'LOC105376438', 'score': 9.77}, {'connected_gene': 'GC10M017482', 'score': 0.34}, {'connected_gene': 'PRPF38AP2', 'score': 0.19}]
chr10	GH10I017443	17443676	17446980	1.42	[{'connected_gene': 'ST8SIA6', 'score': 8.87}, {'connected_gene': 'HACD1', 'score': 5.52}, {'connected_gene': 'VIM', 'score': 1.47}, {'connected_gene': 'TRDMT1', 'score': 1.38}, {'connected_gene': 'LOC105376436', 'score': 0.44}]
chr10	GH10I017456	17456807	17457765	0.75	[{'connected_gene': 'ST8SIA6', 'score': 550.77}, {'connected_gene': 'HACD1', 'score': 10.8}, {'connected_gene': 'LOC105376437', 'score': 0.37}]
chr10	GH10I017451	17451167	17455862	2.17	[{'connected_gene': 'ST8SIA6', 'score': 558.58}, {'connected_gene': 'HACD1', 'score': 4.96}, {'connected_gene': 'LOC105376436', 'score': 0.37}]
chr10	GH10I017508	17508844	17513993	1.16	[{'connected_gene': 'ST8SIA6', 'score': 11.84}, {'connected_gene': 'HACD1', 'score': 11.03}, {'connected_gene': 'GC10M017482', 'score': 0.31}, {'connected_gene': 'PRPF38AP2', 'score': 0.2}]
chr10	GH10I017473	17473022	17473171	0.77	[{'connected_gene': 'LOC105376437', 'score': 550.77}, {'connected_gene': 'HACD1', 'score': 10.85}, {'connected_gene': 'GC10M017482', 'score': 0.44}]
chr10	GH10I017474	17473762	17473911	0.67	[{'connected_gene': 'LOC105376437', 'score': 550.77}, {'connected_gene': 'HACD1', 'score': 15.39}, {'connected_gene': 'GC10M017482', 'score': 0.44}]
chr10	GH10I017578	17578722	17578871	0.8	[{'connected_gene': 'PRPF38AP2', 'score': 550.77}, {'connected_gene': 'HACD1', 'score': 11.96}, {'connected_gene': 'ENSG00000280126', 'score': 0.34}]
chr10	GH10I017420	17420569	17421397	0.2	[{'connected_gene': 'ST8SIA6-AS1', 'score': 23.89}, {'connected_gene': 'ST8SIA6', 'score': 15.53}, {'connected_gene': 'HACD1', 'score': 10.75}, {'connected_gene': 'ENSG00000251803', 'score': 0.37}, {'connected_gene': 'LOC105376436', 'score': 0.37}]
chr10	GH10I017422	17422146	17422886	0.2	[{'connected_gene': 'ST8SIA6-AS1', 'score': 16.0}, {'connected_gene': 'ST8SIA6', 'score': 11.57}, {'connected_gene': 'HACD1', 'score': 10.92}, {'connected_gene': 'LOC105376436', 'score': 0.39}, {'connected_gene': 'ENSG00000251803', 'score': 0.37}]