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
ENST00000434425	[[34392205, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34540223, 34540695]]	[[34392315, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34540223, 34540262]]
ENST00000380071	[[34392185, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34410240, 34411633]]	[[34392315, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34410240, 34410432]]
NM_181558	[[34392205, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34540223, 34540695]]	[[34392315, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34540223, 34540262]]
NM_002915	[[34392205, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34410240, 34411644]]	[[34392315, 34392402], [34395268, 34395406], [34398053, 34398121], [34399925, 34400023], [34403972, 34404154], [34404855, 34404992], [34405392, 34405491], [34409284, 34409354], [34410240, 34410432]]

Promoter

Chrom	Start	End	Description
chr13	34392185	34392191	CAGE_peak_5_at_RFC3_5end
chr13	34392200	34392221	CAGE_peak_3_at_RFC3_5end
chr13	34392227	34392254	CAGE_peak_2_at_RFC3_5end
chr13	34392259	34392321	CAGE_peak_1_at_RFC3_5end
chr13	34392324	34392339	CAGE_peak_4_at_RFC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I033015	33014977	33018292	1.73	[{'connected_gene': 'KL', 'score': 550.77}, {'connected_gene': 'RFC3', 'score': 13.47}, {'connected_gene': 'N4BP2L2', 'score': 10.9}, {'connected_gene': 'STARD13', 'score': 4.34}, {'connected_gene': 'STARD13-IT1', 'score': 0.11}]
chr13	GH13I033693	33693562	33700004	0.77	[{'connected_gene': 'STARD13', 'score': 0.37}, {'connected_gene': 'RFC3', 'score': 0.13}]
chr13	GH13I033740	33740324	33740353	0.38	[{'connected_gene': 'STARD13', 'score': 0.21}, {'connected_gene': 'RFC3', 'score': 0.18}]
chr13	GH13I033270	33270274	33286886	2.6	[{'connected_gene': 'STARD13', 'score': 555.36}, {'connected_gene': 'N4BP2L2', 'score': 31.7}, {'connected_gene': 'STARD13-AS', 'score': 12.72}, {'connected_gene': 'RFC3', 'score': 10.81}, {'connected_gene': 'KL', 'score': 9.71}, {'connected_gene': 'LINC02344', 'score': 0.22}]
chr13	GH13I033786	33786601	33787811	0.69	[{'connected_gene': 'RFC3', 'score': 11.1}, {'connected_gene': 'STARD13', 'score': 0.14}]
chr13	GH13I033797	33797401	33798413	0.66	[{'connected_gene': 'RFC3', 'score': 11.66}, {'connected_gene': 'STARD13', 'score': 0.13}]
chr13	GH13I033757	33757201	33758000	0.68	[{'connected_gene': 'RFC3', 'score': 0.21}, {'connected_gene': 'STARD13', 'score': 0.18}]
chr13	GH13I033819	33819801	33820000	0.31	[{'connected_gene': 'RFC3', 'score': 555.02}, {'connected_gene': 'RNU5A-4P', 'score': 0.44}]
chr13	GH13I033817	33817401	33819475	2.06	[{'connected_gene': 'RFC3', 'score': 555.13}, {'connected_gene': 'RNU5A-4P', 'score': 0.39}]
chr13	GH13I033871	33870703	33872777	0.77	[{'connected_gene': 'RFC3', 'score': 4.93}, {'connected_gene': 'PIR39338', 'score': 0.34}, {'connected_gene': 'PIR43424', 'score': 0.18}]
chr13	GH13I033859	33859165	33860645	0.65	[{'connected_gene': 'RFC3', 'score': 14.38}, {'connected_gene': 'PIR39338', 'score': 0.39}, {'connected_gene': 'PIR43424', 'score': 0.15}]
chr13	GH13I033720	33720824	33724573	1.32	[{'connected_gene': 'ENSG00000230490', 'score': 10.31}, {'connected_gene': 'STARD13', 'score': 10.1}, {'connected_gene': 'RFC3', 'score': 0.15}]
chr13	GH13I033728	33728201	33729293	1.26	[{'connected_gene': 'ENSG00000230490', 'score': 9.73}, {'connected_gene': 'STARD13', 'score': 9.57}, {'connected_gene': 'RFC3', 'score': 0.17}]
chr13	GH13I033729	33729402	33731018	1.06	[{'connected_gene': 'ENSG00000230490', 'score': 9.78}, {'connected_gene': 'STARD13', 'score': 9.57}, {'connected_gene': 'RFC3', 'score': 0.17}]
chr13	GH13I033674	33674978	33680479	2.02	[{'connected_gene': 'ENSG00000230490', 'score': 550.77}, {'connected_gene': 'STARD13', 'score': 550.77}, {'connected_gene': 'RFC3', 'score': 0.11}]
chr13	GH13I033742	33742830	33746355	0.86	[{'connected_gene': 'ENSG00000230490', 'score': 6.21}, {'connected_gene': 'STARD13', 'score': 0.2}, {'connected_gene': 'RFC3', 'score': 0.19}]
chr13	GH13I033845	33845753	33845853	0.46	[{'connected_gene': 'ENSG00000276672', 'score': 550.77}, {'connected_gene': 'RFC3', 'score': 4.83}, {'connected_gene': 'RNU5A-4P', 'score': 0.37}]
chr13	GH13I033870	33870444	33870593	0.54	[{'connected_gene': 'PIR39338', 'score': 0.34}, {'connected_gene': 'RFC3', 'score': 0.23}, {'connected_gene': 'PIR43424', 'score': 0.17}]
chr13	GH13I033917	33917859	33919054	0.88	[{'connected_gene': 'PIR43424', 'score': 0.28}, {'connected_gene': 'PIR39338', 'score': 0.2}, {'connected_gene': 'RFC3', 'score': 0.15}]
chr13	GH13I033940	33940856	33941395	0.49	[{'connected_gene': 'PIR43424', 'score': 0.39}, {'connected_gene': 'PIR39338', 'score': 0.16}, {'connected_gene': 'RFC3', 'score': 0.13}]
chr13	GH13I033846	33846344	33846493	0.2	[{'connected_gene': 'ENSG00000276672', 'score': 550.77}, {'connected_gene': 'PIR39338', 'score': 0.77}, {'connected_gene': 'RFC3', 'score': 0.31}]
chr13	GH13I033934	33934801	33935000	0.31	[{'connected_gene': 'PIR43424', 'score': 0.34}, {'connected_gene': 'PIR39338', 'score': 0.17}, {'connected_gene': 'RFC3', 'score': 0.13}]
chr13	GH13I033953	33953319	33953393	0.27	[{'connected_gene': 'PIR43424', 'score': 0.77}, {'connected_gene': 'PIR39338', 'score': 0.15}, {'connected_gene': 'RFC3', 'score': 0.12}]
chr13	GH13I033937	33937129	33938184	0.65	[{'connected_gene': 'PIR43424', 'score': 0.37}, {'connected_gene': 'PIR39338', 'score': 0.17}, {'connected_gene': 'RFC3', 'score': 0.13}]
chr13	GH13I033969	33969024	33969173	0.9	[{'connected_gene': 'PIR43424', 'score': 0.39}, {'connected_gene': 'LOC105370156', 'score': 0.29}, {'connected_gene': 'RFC3', 'score': 0.1}]