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
ENST00000271751	[[210856554, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192124, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307315]]	[[210856622, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192124, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307287]]
ENST00000367007	[[210856579, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192205, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307457]]	[[210856622, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192205, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307287]]
NM_172362	[[210851656, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192124, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307457]]	[[210856622, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192124, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307287]]
NM_002238	[[210851656, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192205, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307457]]	[[210856622, 210857480], [210948689, 210948886], [210970849, 210971102], [210977308, 210977508], [211092981, 211093411], [211192205, 211192598], [211256121, 211256240], [211263903, 211264032], [211276837, 211276944], [211280595, 211280719], [211307208, 211307287]]

Promoter

Chrom	Start	End	Description
chr1	211307333	211307357	CAGE_peak_3_at_KCNH1_5end
chr1	211307378	211307389	CAGE_peak_5_at_KCNH1_5end
chr1	211307404	211307472	CAGE_peak_1_at_KCNH1_5end
chr1	211307477	211307532	CAGE_peak_2_at_KCNH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I210444	210444966	210448401	0.98	[{'connected_gene': 'SERTAD4-AS1', 'score': 4.46}, {'connected_gene': 'HHAT', 'score': 4.28}, {'connected_gene': 'KCNH1', 'score': 4.25}, {'connected_gene': 'LOC100421537', 'score': 0.37}, {'connected_gene': 'RNU5A-8P', 'score': 0.19}, {'connected_gene': 'GC01M210375', 'score': 0.19}]
chr1	GH01I210436	210436391	210441689	1.07	[{'connected_gene': 'HHAT', 'score': 4.85}, {'connected_gene': 'KCNH1', 'score': 4.84}, {'connected_gene': 'LOC100421537', 'score': 0.34}, {'connected_gene': 'RNU5A-8P', 'score': 0.21}, {'connected_gene': 'GC01M210375', 'score': 0.21}]
chr1	GH01I210638	210638719	210639103	0.22	[{'connected_gene': 'KCNH1', 'score': 5.45}, {'connected_gene': 'HHAT', 'score': 3.48}, {'connected_gene': 'ENSG00000279333', 'score': 0.28}, {'connected_gene': 'LOC100421537', 'score': 0.1}]
chr1	GH01I210433	210433381	210435417	0.31	[{'connected_gene': 'KCNH1', 'score': 4.09}, {'connected_gene': 'LOC100421537', 'score': 0.31}, {'connected_gene': 'RNU5A-8P', 'score': 0.21}, {'connected_gene': 'GC01M210375', 'score': 0.21}, {'connected_gene': 'HHAT', 'score': 0.14}]
chr1	GH01I210849	210849037	210849333	0.22	[{'connected_gene': 'KCNH1', 'score': 1.28}, {'connected_gene': 'IPO8P1', 'score': 0.39}, {'connected_gene': 'LOC105372901', 'score': 0.11}]
chr1	GH01I210972	210972924	210972941	0.24	[{'connected_gene': 'KCNH1', 'score': 1.77}, {'connected_gene': 'GC01P210985', 'score': 0.39}, {'connected_gene': 'IPO8P1', 'score': 0.14}, {'connected_gene': 'ENSG00000284299', 'score': 0.1}]
chr1	GH01I210693	210693925	210696056	0.31	[{'connected_gene': 'LOC105372901', 'score': 0.39}, {'connected_gene': 'GC01M210679', 'score': 0.39}, {'connected_gene': 'KCNH1', 'score': 0.05}]
chr1	GH01I210764	210764333	210765387	0.2	[{'connected_gene': 'LOC105372901', 'score': 0.22}, {'connected_gene': 'IPO8P1', 'score': 0.15}, {'connected_gene': 'KCNH1', 'score': 0.05}]
chr1	GH01I210770	210770355	210771577	0.31	[{'connected_gene': 'LOC105372901', 'score': 0.21}, {'connected_gene': 'IPO8P1', 'score': 0.16}, {'connected_gene': 'KCNH1', 'score': 0.05}]
chr1	GH01I210755	210755379	210755528	0.38	[{'connected_gene': 'LOC105372901', 'score': 0.25}, {'connected_gene': 'IPO8P1', 'score': 0.14}, {'connected_gene': 'KCNH1', 'score': 0.05}]
chr1	GH01I210418	210418888	210419670	0.2	[{'connected_gene': 'KCNH1-IT1', 'score': 11.58}, {'connected_gene': 'KCNH1', 'score': 11.58}, {'connected_gene': 'TRAF3IP3', 'score': 5.06}, {'connected_gene': 'LOC100421537', 'score': 0.26}, {'connected_gene': 'RNU5A-8P', 'score': 0.25}, {'connected_gene': 'GC01M210375', 'score': 0.25}, {'connected_gene': 'HHAT', 'score': 0.16}]
chr1	GH01I210415	210415976	210418609	0.31	[{'connected_gene': 'KCNH1-IT1', 'score': 12.03}, {'connected_gene': 'KCNH1', 'score': 12.03}, {'connected_gene': 'IRF6', 'score': 4.15}, {'connected_gene': 'RNU5A-8P', 'score': 0.26}, {'connected_gene': 'GC01M210375', 'score': 0.26}, {'connected_gene': 'LOC100421537', 'score': 0.25}, {'connected_gene': 'HHAT', 'score': 0.17}]
chr1	GH01I210586	210586343	210588364	0.2	[{'connected_gene': 'KCNH1-IT1', 'score': 11.92}, {'connected_gene': 'KCNH1', 'score': 11.92}, {'connected_gene': 'C1orf74', 'score': 5.24}, {'connected_gene': 'ENSG00000279333', 'score': 0.16}, {'connected_gene': 'LOC100421537', 'score': 0.13}, {'connected_gene': 'HHAT', 'score': 0.07}]
chr1	GH01I210406	210406937	210408023	0.96	[{'connected_gene': 'KCNH1-IT1', 'score': 11.17}, {'connected_gene': 'KCNH1', 'score': 11.17}, {'connected_gene': 'RNU5A-8P', 'score': 0.29}, {'connected_gene': 'GC01M210375', 'score': 0.29}, {'connected_gene': 'LOC100421537', 'score': 0.22}, {'connected_gene': 'HHAT', 'score': 0.18}]
chr1	GH01I210581	210581920	210583377	0.59	[{'connected_gene': 'KCNH1-IT1', 'score': 12.07}, {'connected_gene': 'KCNH1', 'score': 12.07}, {'connected_gene': 'ENSG00000279333', 'score': 0.15}, {'connected_gene': 'LOC100421537', 'score': 0.13}, {'connected_gene': 'HHAT', 'score': 0.07}]
chr1	GH01I210584	210584400	210584801	1.16	[{'connected_gene': 'KCNH1-IT1', 'score': 11.92}, {'connected_gene': 'KCNH1', 'score': 11.92}, {'connected_gene': 'ENSG00000279333', 'score': 0.16}, {'connected_gene': 'LOC100421537', 'score': 0.13}, {'connected_gene': 'HHAT', 'score': 0.07}]
chr1	GH01I211133	211133600	211134728	1.93	[{'connected_gene': 'KCNH1-IT1', 'score': 550.77}, {'connected_gene': 'ENSG00000284299', 'score': 550.77}, {'connected_gene': 'KCNH1', 'score': 550.77}, {'connected_gene': 'ENSG00000283952', 'score': 0.23}, {'connected_gene': 'ENSG00000284376', 'score': 0.19}]
chr1	GH01I211126	211126550	211127606	0.2	[{'connected_gene': 'KCNH1-IT1', 'score': 0.44}, {'connected_gene': 'ENSG00000284299', 'score': 0.44}, {'connected_gene': 'KCNH1', 'score': 0.44}, {'connected_gene': 'ENSG00000283952', 'score': 0.21}, {'connected_gene': 'ENSG00000284376', 'score': 0.18}, {'connected_gene': 'GC01P210985', 'score': 0.11}]
chr1	GH01I211069	211069119	211069268	0.38	[{'connected_gene': 'KCNH1-IT1', 'score': 0.21}, {'connected_gene': 'ENSG00000284299', 'score': 0.21}, {'connected_gene': 'KCNH1', 'score': 0.21}, {'connected_gene': 'GC01P210985', 'score': 0.18}]
chr1	GH01I210861	210861978	210862400	0.83	[{'connected_gene': 'IPO8P1', 'score': 550.77}, {'connected_gene': 'NEK2', 'score': 6.64}, {'connected_gene': 'LOC105372901', 'score': 0.1}, {'connected_gene': 'ENSG00000284299', 'score': 0.06}, {'connected_gene': 'KCNH1', 'score': 0.06}]
chr1	GH01I210911	210911655	210911850	0.22	[{'connected_gene': 'IPO8P1', 'score': 0.25}, {'connected_gene': 'GC01P210985', 'score': 0.19}, {'connected_gene': 'ENSG00000284299', 'score': 0.07}, {'connected_gene': 'KCNH1', 'score': 0.07}]
chr1	GH01I210906	210906039	210906268	0.46	[{'connected_gene': 'IPO8P1', 'score': 0.26}, {'connected_gene': 'GC01P210985', 'score': 0.18}, {'connected_gene': 'ENSG00000284299', 'score': 0.07}, {'connected_gene': 'KCNH1', 'score': 0.07}]
chr1	GH01I210881	210881632	210884816	0.82	[{'connected_gene': 'IPO8P1', 'score': 0.34}, {'connected_gene': 'GC01P210985', 'score': 0.15}, {'connected_gene': 'ENSG00000284299', 'score': 0.07}, {'connected_gene': 'KCNH1', 'score': 0.07}]
chr1	GH01I210692	210692802	210693279	0.46	[{'connected_gene': 'GC01M210679', 'score': 0.39}, {'connected_gene': 'LOC105372901', 'score': 0.37}, {'connected_gene': 'KCNH1', 'score': 0.04}]
chr1	GH01I210687	210687002	210688308	0.43	[{'connected_gene': 'GC01M210679', 'score': 0.44}, {'connected_gene': 'LOC105372901', 'score': 0.34}, {'connected_gene': 'KCNH1', 'score': 0.05}]
chr1	GH01I211035	211035663	211037970	1.22	[{'connected_gene': 'GC01P210985', 'score': 0.23}, {'connected_gene': 'KCNH1-IT1', 'score': 0.15}, {'connected_gene': 'ENSG00000284299', 'score': 0.15}, {'connected_gene': 'KCNH1', 'score': 0.15}]