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
ENST00000561981	[[111892572, 111899907], [111903622, 111903869], [111909330, 111909469], [111911915, 111912000], [111929180, 111929571]]	[[111899734, 111899907], [111903622, 111903869], [111909330, 111909469], [111911915, 111912000], [111929180, 111929571]]
NM_014334	[[111892572, 111899907], [111903622, 111903869], [111909330, 111909469], [111911915, 111912000], [111929180, 111929571]]	[[111899734, 111899907], [111903622, 111903869], [111909330, 111909469], [111911915, 111912000], [111929180, 111929571]]

Promoter

Chrom	Start	End	Description
chr9	111929441	111929544	CAGE_peak_1_at_C9orf4_5end
chr9	111929560	111929570	CAGE_peak_3_at_C9orf4_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	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	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	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	GH09I109150	109150729	109151502	0.43	[{'connected_gene': 'ELP1', 'score': 11.89}, {'connected_gene': 'TMEM245', 'score': 10.96}, {'connected_gene': 'RNU6-984P', 'score': 10.23}, {'connected_gene': 'EPB41L4B', 'score': 9.66}, {'connected_gene': 'FRRS1L', 'score': 6.13}, {'connected_gene': 'GC09M109159', 'score': 0.44}, {'connected_gene': 'GC09M109131', 'score': 0.37}]
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	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	GH09I109183	109183661	109183810	0.73	[{'connected_gene': 'FRRS1L', 'score': 12.5}, {'connected_gene': 'EPB41L4B', 'score': 10.36}, {'connected_gene': 'GC09M109197', 'score': 0.39}, {'connected_gene': 'RNU6-984P', 'score': 0.39}]
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	GH09I109034	109034498	109034994	0.31	[{'connected_gene': 'FRRS1L', 'score': 25.13}, {'connected_gene': 'TMEM245', 'score': 10.01}, {'connected_gene': 'ENSG00000199331', 'score': 0.44}, {'connected_gene': 'GC09M109043', 'score': 0.44}, {'connected_gene': 'PIR41041', 'score': 0.37}]
chr9	GH09I109167	109167198	109167310	0.81	[{'connected_gene': 'FRRS1L', 'score': 550.77}, {'connected_gene': 'GC09M109160', 'score': 0.44}]
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	GH09I109657	109657556	109657809	0.33	[{'connected_gene': 'PALM2', 'score': 2.7}, {'connected_gene': 'FRRS1L', 'score': 2.3}, {'connected_gene': 'ENSG00000232939', 'score': 0.14}]
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}]
chr9	GH09I109135	109135170	109135302	0.31	[{'connected_gene': 'GC09M109131', 'score': 550.77}, {'connected_gene': 'MIR32', 'score': 10.24}, {'connected_gene': 'ENSG00000199331', 'score': 10.23}, {'connected_gene': 'RNU6-984P', 'score': 9.95}, {'connected_gene': 'EPB41L4B', 'score': 9.1}, {'connected_gene': 'TMEM245', 'score': 0.37}, {'connected_gene': 'FRRS1L', 'score': 0.29}]
chr9	GH09I109161	109161893	109164176	0.46	[{'connected_gene': 'GC09M109160', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 12.04}, {'connected_gene': 'TMEM245', 'score': 11.8}, {'connected_gene': 'ELP1', 'score': 5.76}]
chr9	GH09I109192	109192841	109192990	0.54	[{'connected_gene': 'GC09M109197', 'score': 0.77}, {'connected_gene': 'RNU6-984P', 'score': 0.77}, {'connected_gene': 'FRRS1L', 'score': 0.31}, {'connected_gene': 'EPB41L4B', 'score': 0.13}]