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
ENST00000374595	[[111704850, 111705151], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775802]]	[[111705133, 111705151], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]
ENST00000325551	[[111704850, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775809]]	[[111705048, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]
ENST00000325580	[[111704857, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775779]]	[[111705048, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]
ENST00000374594	[[111704858, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111725777, 111725835]]	[[111705048, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714526]]
ENST00000488130	[[111734954, 111735113], [111739241, 111739700]]	None
ENST00000374593	[[111754175, 111754347], [111754911, 111755099], [111761346, 111761536], [111775581, 111775792]]	[[111754314, 111754347], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]
NM_001286974	[[111704848, 111705151], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775874]]	[[111705133, 111705151], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]
NM_003798	[[111704848, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775874]]	[[111705048, 111705114], [111705240, 111705324], [111705982, 111706096], [111706241, 111706298], [111710465, 111710514], [111714488, 111714643], [111714723, 111714774], [111718069, 111718107], [111727657, 111727808], [111732681, 111732774], [111734954, 111735113], [111739241, 111739328], [111741560, 111741761], [111745424, 111745595], [111746626, 111746716], [111753005, 111753125], [111754911, 111755099], [111761346, 111761536], [111775581, 111775722]]

Promoter

Chrom	Start	End	Description
chr9	111775730	111775740	CAGE_peak_4_at_CTNNAL1_5end
chr9	111775745	111775757	CAGE_peak_2_at_CTNNAL1_5end
chr9	111775766	111775771	CAGE_peak_3_at_CTNNAL1_5end
chr9	111775772	111775831	CAGE_peak_1_at_CTNNAL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I108883	108882374	108890463	0.98	[{'connected_gene': 'CTNNAL1', 'score': 19.8}, {'connected_gene': 'ELP1', 'score': 16.38}, {'connected_gene': 'FRRS1L', 'score': 16.34}, {'connected_gene': 'ACTL7A', 'score': 12.26}, {'connected_gene': 'ACTL7B', 'score': 11.69}, {'connected_gene': 'FAM206A', 'score': 11.2}, {'connected_gene': 'EPB41L4B', 'score': 9.82}, {'connected_gene': 'TMEM245', 'score': 8.29}, {'connected_gene': 'RPL31P43', 'score': 4.62}]
chr9	GH09I109143	109143735	109144464	1.04	[{'connected_gene': 'CTNNAL1', 'score': 20.82}, {'connected_gene': 'ELP1', 'score': 11.93}, {'connected_gene': 'GC09M109131', 'score': 0.44}, {'connected_gene': 'GC09M109159', 'score': 0.37}, {'connected_gene': 'FRRS1L', 'score': 0.34}]
chr9	GH09I109148	109148800	109150449	0.38	[{'connected_gene': 'CTNNAL1', 'score': 16.8}, {'connected_gene': 'ELP1', 'score': 11.86}, {'connected_gene': 'TMEM245', 'score': 8.99}, {'connected_gene': 'FRRS1L', 'score': 8.6}, {'connected_gene': 'GC09M109131', 'score': 0.39}, {'connected_gene': 'GC09M109159', 'score': 0.39}]
chr9	GH09I109123	109123766	109124476	0.69	[{'connected_gene': 'CTNNAL1', 'score': 23.09}, {'connected_gene': 'ELP1', 'score': 11.77}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9	GH09I109122	109122671	109123699	1.33	[{'connected_gene': 'CTNNAL1', 'score': 23.11}, {'connected_gene': 'ELP1', 'score': 8.15}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9	GH09I108783	108783001	108784452	0.69	[{'connected_gene': 'CTNNAL1', 'score': 7.13}, {'connected_gene': 'ELP1', 'score': 4.8}, {'connected_gene': 'RPL36AP35', 'score': 0.28}, {'connected_gene': 'PIR55739', 'score': 0.28}]
chr9	GH09I108994	108994201	108995600	0.8	[{'connected_gene': 'CTNNAL1', 'score': 14.32}, {'connected_gene': 'ENSG00000199331', 'score': 10.08}, {'connected_gene': 'MIR32', 'score': 10.07}, {'connected_gene': 'RNA5-8SP3', 'score': 0.77}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'GC09M109014', 'score': 0.37}, {'connected_gene': 'PIR44811', 'score': 0.37}]
chr9	GH09I109106	109106792	109112434	1.6	[{'connected_gene': 'CTNNAL1', 'score': 29.19}, {'connected_gene': 'FRRS1L', 'score': 28.85}, {'connected_gene': 'ELP1', 'score': 25.05}, {'connected_gene': 'MIR32', 'score': 9.99}, {'connected_gene': 'ENSG00000199331', 'score': 9.99}, {'connected_gene': 'TMEM245', 'score': 0.39}, {'connected_gene': 'GC09M109081', 'score': 0.31}]
chr9	GH09I109010	109010118	109015498	1.99	[{'connected_gene': 'CTNNAL1', 'score': 575.69}, {'connected_gene': 'GC09M109014', 'score': 550.77}, {'connected_gene': 'PIR44811', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 26.86}, {'connected_gene': 'ELP1', 'score': 25.93}, {'connected_gene': 'TMEM245', 'score': 20.44}, {'connected_gene': 'ENSG00000199331', 'score': 11.06}, {'connected_gene': 'MIR32', 'score': 11.05}]
chr9	GH09I109072	109072145	109072830	0.64	[{'connected_gene': 'CTNNAL1', 'score': 35.62}, {'connected_gene': 'FRRS1L', 'score': 28.0}, {'connected_gene': 'MIR32', 'score': 11.91}, {'connected_gene': 'ENSG00000199331', 'score': 11.89}, {'connected_gene': 'TMEM245', 'score': 10.82}, {'connected_gene': 'RNU6-984P', 'score': 10.64}, {'connected_gene': 'GC09M109081', 'score': 0.39}]
chr9	GH09I109128	109128857	109134821	1.13	[{'connected_gene': 'CTNNAL1', 'score': 32.36}, {'connected_gene': 'FRRS1L', 'score': 29.91}, {'connected_gene': 'TMEM245', 'score': 12.48}, {'connected_gene': 'MIR32', 'score': 9.93}, {'connected_gene': 'ENSG00000199331', 'score': 9.93}, {'connected_gene': 'RNU6-984P', 'score': 9.84}, {'connected_gene': 'EPB41L4B', 'score': 9.78}, {'connected_gene': 'GC09M109131', 'score': 0.77}]
chr9	GH09I108868	108868772	108870323	0.87	[{'connected_gene': 'CTNNAL1', 'score': 13.97}, {'connected_gene': 'FRRS1L', 'score': 9.99}, {'connected_gene': 'ACTL7A', 'score': 0.44}, {'connected_gene': 'FAM206A', 'score': 0.21}, {'connected_gene': 'ELP1', 'score': 0.21}]
chr9	GH09I109091	109091556	109094052	0.46	[{'connected_gene': 'CTNNAL1', 'score': 25.26}, {'connected_gene': 'TMEM245', 'score': 23.63}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'ELP1', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.57}, {'connected_gene': 'ENSG00000199331', 'score': 10.56}, {'connected_gene': 'GC09M109081', 'score': 0.44}]
chr9	GH09I109026	109026668	109027677	0.2	[{'connected_gene': 'CTNNAL1', 'score': 20.62}, {'connected_gene': 'TMEM245', 'score': 10.63}, {'connected_gene': 'PIR41041', 'score': 0.44}, {'connected_gene': 'ENSG00000199331', 'score': 0.37}, {'connected_gene': 'GC09M109043', 'score': 0.37}]
chr9	GH09I108971	108971873	108974770	0.2	[{'connected_gene': 'CTNNAL1', 'score': 32.42}, {'connected_gene': 'ACTL7B', 'score': 10.12}, {'connected_gene': 'EPB41L4B', 'score': 9.38}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'ELP1', 'score': 0.28}]
chr9	GH09I108963	108963270	108964065	0.84	[{'connected_gene': 'CTNNAL1', 'score': 24.45}, {'connected_gene': 'LOC105376216', 'score': 0.34}, {'connected_gene': 'ELP1', 'score': 0.31}]
chr9	GH09I108633	108633700	108636290	0.96	[{'connected_gene': 'CTNNAL1', 'score': 4.6}, {'connected_gene': 'PIR49043', 'score': 0.44}, {'connected_gene': 'ENSG00000231678', 'score': 0.2}]
chr9	GH09I109096	109096644	109103151	1.32	[{'connected_gene': 'ELP1', 'score': 45.48}, {'connected_gene': 'CTNNAL1', 'score': 34.93}, {'connected_gene': 'FRRS1L', 'score': 28.81}, {'connected_gene': 'TMEM245', 'score': 23.59}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.69}, {'connected_gene': 'ENSG00000199331', 'score': 10.68}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9	GH09I109035	109035088	109037689	1.08	[{'connected_gene': 'ELP1', 'score': 26.86}, {'connected_gene': 'CTNNAL1', 'score': 20.73}, {'connected_gene': 'TMEM245', 'score': 10.02}, {'connected_gene': 'ENSG00000199331', 'score': 0.44}, {'connected_gene': 'GC09M109043', 'score': 0.44}, {'connected_gene': 'PIR41041', 'score': 0.37}]
chr9	GH09I108931	108931882	108935385	2.06	[{'connected_gene': 'ELP1', 'score': 579.36}, {'connected_gene': 'FAM206A', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 21.97}, {'connected_gene': 'CTNNAL1', 'score': 14.15}, {'connected_gene': 'ACTL7A', 'score': 0.19}]
chr9	GH09I109184	109183281	109183430	0.64	[{'connected_gene': 'EPB41L4B', 'score': 10.36}, {'connected_gene': 'CTNNAL1', 'score': 5.02}, {'connected_gene': 'GC09M109197', 'score': 0.39}, {'connected_gene': 'RNU6-984P', 'score': 0.39}, {'connected_gene': 'FRRS1L', 'score': 0.37}]
chr9	GH09I109312	109312868	109315317	0.97	[{'connected_gene': 'EPB41L4B', 'score': 12.52}, {'connected_gene': 'CTNNAL1', 'score': 4.53}, {'connected_gene': 'MTND2P11', 'score': 0.39}]
chr9	GH09I109315	109315422	109322035	2.46	[{'connected_gene': 'EPB41L4B', 'score': 577.96}, {'connected_gene': 'RNU6-984P', 'score': 10.7}, {'connected_gene': 'CTNNAL1', 'score': 4.78}, {'connected_gene': 'MTND2P11', 'score': 0.37}]
chr9	GH09I108997	108997124	108997465	0.22	[{'connected_gene': 'MIR32', 'score': 10.35}, {'connected_gene': 'ENSG00000199331', 'score': 10.35}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.29}, {'connected_gene': 'RNA5-8SP3', 'score': 0.77}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'GC09M109014', 'score': 0.37}, {'connected_gene': 'PIR44811', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.34}]
chr9	GH09I109000	109000901	109001977	0.69	[{'connected_gene': 'MIR32', 'score': 10.37}, {'connected_gene': 'ENSG00000199331', 'score': 10.37}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.34}, {'connected_gene': 'RNA5-8SP3', 'score': 0.44}, {'connected_gene': 'GC09M109014', 'score': 0.39}, {'connected_gene': 'PIR44811', 'score': 0.39}, {'connected_gene': 'LOC105376216', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.37}]
chr9	GH09I109002	109002281	109002430	0.2	[{'connected_gene': 'MIR32', 'score': 10.37}, {'connected_gene': 'ENSG00000199331', 'score': 10.37}, {'connected_gene': 'ACTL7A', 'score': 9.43}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'RNA5-8SP3', 'score': 0.44}, {'connected_gene': 'GC09M109014', 'score': 0.39}, {'connected_gene': 'PIR44811', 'score': 0.39}, {'connected_gene': 'LOC105376216', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.37}]
chr9	GH09I109060	109060038	109060748	0.31	[{'connected_gene': 'FRRS1L', 'score': 26.85}, {'connected_gene': 'CTNNAL1', 'score': 9.56}, {'connected_gene': 'MIR32', 'score': 0.39}, {'connected_gene': 'GC09M109081', 'score': 0.34}, {'connected_gene': 'TMEM245', 'score': 0.22}]
chr9	GH09I109064	109064252	109066357	0.62	[{'connected_gene': 'FRRS1L', 'score': 27.99}, {'connected_gene': 'ELP1', 'score': 22.23}, {'connected_gene': 'ENSG00000199331', 'score': 12.33}, {'connected_gene': 'TMEM245', 'score': 10.7}, {'connected_gene': 'CTNNAL1', 'score': 9.9}, {'connected_gene': 'ACTL7B', 'score': 9.68}, {'connected_gene': 'MIR32', 'score': 0.37}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9	GH09I109038	109038727	109039876	0.46	[{'connected_gene': 'FRRS1L', 'score': 26.36}, {'connected_gene': 'TMEM245', 'score': 18.83}, {'connected_gene': 'CTNNAL1', 'score': 10.74}, {'connected_gene': 'ENSG00000199331', 'score': 0.77}, {'connected_gene': 'GC09M109043', 'score': 0.77}, {'connected_gene': 'PIR41041', 'score': 0.34}]
chr9	GH09I109113	109113001	109122010	2.72	[{'connected_gene': 'TMEM245', 'score': 565.89}, {'connected_gene': 'FRRS1L', 'score': 29.15}, {'connected_gene': 'ELP1', 'score': 25.45}, {'connected_gene': 'CTNNAL1', 'score': 25.02}, {'connected_gene': 'MIR32', 'score': 9.98}, {'connected_gene': 'ENSG00000199331', 'score': 9.97}, {'connected_gene': 'FAM206A', 'score': 4.79}, {'connected_gene': 'GC09M109081', 'score': 0.29}]
chr9	GH09I108991	108991081	108991897	0.38	[{'connected_gene': 'RNA5-8SP3', 'score': 550.77}, {'connected_gene': 'CTNNAL1', 'score': 19.22}, {'connected_gene': 'LOC105376216', 'score': 0.44}]
chr9	GH09I109134	109134841	109134990	0.46	[{'connected_gene': 'GC09M109131', 'score': 550.77}, {'connected_gene': 'CTNNAL1', 'score': 10.17}, {'connected_gene': 'MIR32', 'score': 9.93}, {'connected_gene': 'ENSG00000199331', 'score': 9.92}, {'connected_gene': 'TMEM245', 'score': 0.39}, {'connected_gene': 'FRRS1L', 'score': 0.29}]