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
ENST00000514888	[[57301906, 57302094], [57302427, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327527]]	[[57312922, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
ENST00000264221	[[57301914, 57302094], [57302427, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327534]]	[[57302478, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
ENST00000505164	[[57301917, 57302141], [57302427, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325665]]	[[57302478, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325665]]
ENST00000504188	[[57302204, 57302494], [57307828, 57308029]]	None
ENST00000510584	[[57302303, 57302494], [57307828, 57308194]]	None
ENST00000399688	[[57302303, 57302494], [57307828, 57308026], [57312522, 57312543], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327527]]	[[57302478, 57302494], [57307828, 57308026], [57312522, 57312543], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
ENST00000512576	[[57302317, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325830]]	[[57302478, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
ENST00000508554	[[57314864, 57314989], [57316784, 57317357]]	None
NM_006452	[[57301914, 57302094], [57302427, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327534]]	[[57302478, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
NM_001079524	[[57302268, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327534]]	[[57302478, 57302494], [57307828, 57308026], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]
NM_001079525	[[57302268, 57302494], [57307828, 57308026], [57312522, 57312543], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57327534]]	[[57302478, 57302494], [57307828, 57308026], [57312522, 57312543], [57312860, 57313039], [57314583, 57314763], [57314875, 57314989], [57316784, 57316868], [57318037, 57318218], [57319768, 57319927], [57325537, 57325704]]

Promoter

Chrom	Start	End	Description
chr4	57301896	57301945	CAGE_peak_3_at_PAICS_5end
chr4	57302272	57302283	CAGE_peak_9_at_PAICS_5end
chr4	57302297	57302322	CAGE_peak_2_at_PAICS_5end
chr4	57302324	57302335	CAGE_peak_4_at_PAICS_5end
chr4	57302399	57302441	CAGE_peak_1_at_PAICS_5end
chr4	57325998	57326046	CAGE_peak_5_at_PAICS_5end
chr4	57326184	57326200	CAGE_peak_8_at_PAICS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I056836	56836600	56837000	0.79	[{'connected_gene': 'SRP72', 'score': 10.46}, {'connected_gene': 'REST', 'score': 10.41}, {'connected_gene': 'HOPX', 'score': 10.36}, {'connected_gene': 'PAICS', 'score': 10.3}, {'connected_gene': 'PPAT', 'score': 10.3}, {'connected_gene': 'AASDH', 'score': 9.76}, {'connected_gene': 'SPINK2', 'score': 9.27}, {'connected_gene': 'GC04P056899', 'score': 0.21}]
chr4	GH04I056465	56465006	56469294	2.23	[{'connected_gene': 'SRP72', 'score': 596.62}, {'connected_gene': 'GC04M056462', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 13.2}, {'connected_gene': 'PPAT', 'score': 11.91}, {'connected_gene': 'PAICS', 'score': 11.91}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'ARL9', 'score': 8.07}]
chr4	GH04I056799	56799363	56800904	1.05	[{'connected_gene': 'SPINK2', 'score': 12.92}, {'connected_gene': 'PAICS', 'score': 10.6}, {'connected_gene': 'PPAT', 'score': 10.6}, {'connected_gene': 'NOA1', 'score': 10.11}, {'connected_gene': 'POLR2B', 'score': 10.11}, {'connected_gene': 'SRP72', 'score': 9.91}, {'connected_gene': 'REST', 'score': 9.41}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'GC04P056807', 'score': 0.44}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056412	56412082	56412267	0.22	[{'connected_gene': 'AASDH', 'score': 22.17}, {'connected_gene': 'PPAT', 'score': 12.58}, {'connected_gene': 'PAICS', 'score': 12.58}, {'connected_gene': 'LOC100506514', 'score': 0.77}]
chr4	GH04I056540	56540801	56541000	0.38	[{'connected_gene': 'ARL9', 'score': 12.28}, {'connected_gene': 'SRP72', 'score': 12.19}, {'connected_gene': 'PAICS', 'score': 11.04}, {'connected_gene': 'PPAT', 'score': 11.04}, {'connected_gene': 'SPINK2', 'score': 10.4}, {'connected_gene': 'ENSG00000251799', 'score': 10.4}, {'connected_gene': 'HOPX', 'score': 10.25}, {'connected_gene': 'AASDH', 'score': 10.06}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.23}]
chr4	GH04I056459	56459545	56461102	0.64	[{'connected_gene': 'ARL9', 'score': 20.07}, {'connected_gene': 'SRP72', 'score': 13.45}, {'connected_gene': 'PAICS', 'score': 12.18}, {'connected_gene': 'PPAT', 'score': 12.18}, {'connected_gene': 'AASDH', 'score': 10.29}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'GC04P056465', 'score': 0.77}, {'connected_gene': 'GC04P056437', 'score': 0.34}, {'connected_gene': 'GC04P056436', 'score': 0.34}]
chr4	GH04I056433	56433450	56438274	2.1	[{'connected_gene': 'PAICS', 'score': 550.77}, {'connected_gene': 'GC04P056437', 'score': 550.77}, {'connected_gene': 'GC04P056436', 'score': 550.77}, {'connected_gene': 'PPAT', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 50.26}, {'connected_gene': 'CEP135', 'score': 35.93}, {'connected_gene': 'AASDH', 'score': 33.8}, {'connected_gene': 'POLR2B', 'score': 32.68}, {'connected_gene': 'RN7SKP30', 'score': 31.62}, {'connected_gene': 'ENSG00000269921', 'score': 14.66}, {'connected_gene': 'ARL9', 'score': 7.67}]
chr4	GH04I056438	56438801	56439000	0.2	[{'connected_gene': 'PAICS', 'score': 0.77}, {'connected_gene': 'GC04P056437', 'score': 0.77}, {'connected_gene': 'GC04P056436', 'score': 0.77}, {'connected_gene': 'GC04P056465', 'score': 0.31}]
chr4	GH04I056408	56408965	56411868	1.03	[{'connected_gene': 'LOC100506514', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 31.63}, {'connected_gene': 'AASDH', 'score': 30.36}, {'connected_gene': 'PPAT', 'score': 11.87}, {'connected_gene': 'PAICS', 'score': 11.87}, {'connected_gene': 'ENSG00000269921', 'score': 11.5}, {'connected_gene': 'ENSG00000251799', 'score': 10.01}, {'connected_gene': 'SPINK2', 'score': 10.01}]