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
ENST00000187762	[[16771937, 16772152], [16790794, 16790951], [16791207, 16791392], [16793231, 16793319], [16797098, 16797216], [16798954, 16800840]]	[[16772028, 16772152], [16790794, 16790951], [16791207, 16791392], [16793231, 16793319], [16797098, 16797216], [16798954, 16799182]]
ENST00000595452	[[16772052, 16772152], [16790794, 16790951], [16791207, 16791748]]	None
ENST00000599479	[[16772071, 16772152], [16790794, 16790951], [16791207, 16791295], [16799733, 16799817]]	[[16772071, 16772152], [16790794, 16790951], [16791207, 16791295], [16799733, 16799754]]
NM_024074	[[16771937, 16772152], [16790794, 16790951], [16791207, 16791392], [16793231, 16793319], [16797098, 16797216], [16798954, 16799831]]	[[16772028, 16772152], [16790794, 16790951], [16791207, 16791392], [16793231, 16793319], [16797098, 16797216], [16798954, 16799182]]

Promoter

Chrom	Start	End	Description
chr19	16771936	16772021	CAGE_peak_1_at_TMEM38A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I016685	16685390	16685539	0.83	[{'connected_gene': 'GTPBP3', 'score': 24.16}, {'connected_gene': 'CHERP', 'score': 20.93}, {'connected_gene': 'ENSG00000267904', 'score': 20.57}, {'connected_gene': 'ENSG00000268087', 'score': 20.24}, {'connected_gene': 'SMIM7', 'score': 14.66}, {'connected_gene': 'TMEM38A', 'score': 12.07}, {'connected_gene': 'ENSG00000269427', 'score': 11.86}, {'connected_gene': 'ENSG00000269578', 'score': 11.53}, {'connected_gene': 'ENSG00000268743', 'score': 10.96}, {'connected_gene': 'SIN3B', 'score': 9.92}, {'connected_gene': 'GC19P020284', 'score': 0.34}, {'connected_gene': 'GC19P020237', 'score': 0.31}]
chr19	GH19I016625	16625431	16626308	0.43	[{'connected_gene': 'C19orf44', 'score': 21.19}, {'connected_gene': 'SLC35E1', 'score': 11.82}, {'connected_gene': 'SMIM7', 'score': 11.12}, {'connected_gene': 'TMEM38A', 'score': 11.1}, {'connected_gene': 'ENSG00000141979', 'score': 0.77}, {'connected_gene': 'MED26', 'score': 0.77}, {'connected_gene': 'ENSG00000279977', 'score': 0.39}, {'connected_gene': 'ENSG00000268087', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.29}]
chr19	GH19I016624	16624850	16624999	0.4	[{'connected_gene': 'C19orf44', 'score': 21.29}, {'connected_gene': 'TMEM38A', 'score': 12.24}, {'connected_gene': 'SMIM7', 'score': 12.24}, {'connected_gene': 'SLC35E1', 'score': 11.94}, {'connected_gene': 'RN7SL146P', 'score': 11.43}, {'connected_gene': 'CHERP', 'score': 11.43}, {'connected_gene': 'ENSG00000141979', 'score': 0.77}, {'connected_gene': 'MED26', 'score': 0.77}, {'connected_gene': 'ENSG00000279977', 'score': 0.39}, {'connected_gene': 'ENSG00000268087', 'score': 0.39}, {'connected_gene': 'ENSG00000268790', 'score': 0.28}]
chr19	GH19I016620	16620078	16620605	0.2	[{'connected_gene': 'C19orf44', 'score': 21.6}, {'connected_gene': 'TMEM38A', 'score': 12.0}, {'connected_gene': 'SMIM7', 'score': 12.0}, {'connected_gene': 'CHERP', 'score': 11.84}, {'connected_gene': 'RN7SL146P', 'score': 11.83}, {'connected_gene': 'SLC35E1', 'score': 11.79}, {'connected_gene': 'EPS15L1', 'score': 10.85}, {'connected_gene': 'ENSG00000279977', 'score': 0.44}, {'connected_gene': 'ENSG00000268087', 'score': 0.44}, {'connected_gene': 'ENSG00000141979', 'score': 0.44}, {'connected_gene': 'MED26', 'score': 0.44}, {'connected_gene': 'ENSG00000268790', 'score': 0.28}]
chr19	GH19I016470	16469014	16469451	0.46	[{'connected_gene': 'C19orf44', 'score': 12.47}, {'connected_gene': 'TMEM38A', 'score': 4.71}, {'connected_gene': 'EPS15L1', 'score': 0.77}, {'connected_gene': 'ENSG00000267703', 'score': 0.31}, {'connected_gene': 'GC19P020259', 'score': 0.29}, {'connected_gene': 'GC19M016221', 'score': 0.13}]
chr19	GH19I016607	16607509	16609200	1.21	[{'connected_gene': 'C19orf44', 'score': 21.27}, {'connected_gene': 'EPS15L1', 'score': 18.44}, {'connected_gene': 'MED26', 'score': 13.0}, {'connected_gene': 'CALR3', 'score': 12.8}, {'connected_gene': 'SLC35E1', 'score': 11.99}, {'connected_gene': 'TMEM38A', 'score': 11.97}, {'connected_gene': 'SMIM7', 'score': 11.97}, {'connected_gene': 'RN7SL146P', 'score': 11.82}, {'connected_gene': 'CHERP', 'score': 11.82}, {'connected_gene': 'CPAMD8', 'score': 10.15}, {'connected_gene': 'ENSG00000268087', 'score': 0.77}, {'connected_gene': 'ENSG00000141979', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.23}]
chr19	GH19I016466	16466102	16468574	0.46	[{'connected_gene': 'C19orf44', 'score': 15.32}, {'connected_gene': 'EPS15L1', 'score': 6.2}, {'connected_gene': 'ENSG00000269044', 'score': 4.93}, {'connected_gene': 'TMEM38A', 'score': 4.69}, {'connected_gene': 'GC19P020259', 'score': 0.31}, {'connected_gene': 'ENSG00000267703', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.13}]
chr19	GH19I016568	16568380	16576002	2.27	[{'connected_gene': 'SLC35E1', 'score': 550.77}, {'connected_gene': 'GC19P019771', 'score': 550.77}, {'connected_gene': 'LOC105372295', 'score': 550.77}, {'connected_gene': 'TMEM38A', 'score': 22.46}, {'connected_gene': 'C19orf44', 'score': 21.26}, {'connected_gene': 'CHERP', 'score': 12.41}, {'connected_gene': 'RN7SL146P', 'score': 12.39}, {'connected_gene': 'ENSG00000141979', 'score': 12.15}, {'connected_gene': 'SMIM7', 'score': 11.18}, {'connected_gene': 'EPS15L1', 'score': 10.66}, {'connected_gene': 'ENSG00000269044', 'score': 7.13}, {'connected_gene': 'ENSG00000269085', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.34}, {'connected_gene': 'MED26', 'score': 0.22}]
chr19	GH19I016559	16559342	16560737	0.31	[{'connected_gene': 'TMEM38A', 'score': 11.34}, {'connected_gene': 'ENSG00000269044', 'score': 7.11}, {'connected_gene': 'ENSG00000268309', 'score': 0.44}, {'connected_gene': 'ENSG00000269085', 'score': 0.44}, {'connected_gene': 'SLC35E1', 'score': 0.39}, {'connected_gene': 'GC19M016221', 'score': 0.29}, {'connected_gene': 'ENSG00000141979', 'score': 0.2}]
chr19	GH19I016622	16619710	16619859	0.63	[{'connected_gene': 'TMEM38A', 'score': 12.0}, {'connected_gene': 'SMIM7', 'score': 12.0}, {'connected_gene': 'RN7SL146P', 'score': 11.84}, {'connected_gene': 'CHERP', 'score': 11.84}, {'connected_gene': 'SLC35E1', 'score': 11.79}, {'connected_gene': 'C19orf44', 'score': 11.32}, {'connected_gene': 'EPS15L1', 'score': 10.85}, {'connected_gene': 'ENSG00000279977', 'score': 0.44}, {'connected_gene': 'ENSG00000268087', 'score': 0.44}, {'connected_gene': 'ENSG00000141979', 'score': 0.44}, {'connected_gene': 'MED26', 'score': 0.44}, {'connected_gene': 'ENSG00000268790', 'score': 0.26}]
chr19	GH19I016619	16619350	16619499	0.51	[{'connected_gene': 'TMEM38A', 'score': 12.0}, {'connected_gene': 'SMIM7', 'score': 12.0}, {'connected_gene': 'RN7SL146P', 'score': 11.84}, {'connected_gene': 'CHERP', 'score': 11.84}, {'connected_gene': 'SLC35E1', 'score': 11.79}, {'connected_gene': 'C19orf44', 'score': 11.32}, {'connected_gene': 'EPS15L1', 'score': 10.85}, {'connected_gene': 'ENSG00000269044', 'score': 4.85}, {'connected_gene': 'ENSG00000279977', 'score': 0.44}, {'connected_gene': 'ENSG00000268087', 'score': 0.44}, {'connected_gene': 'ENSG00000141979', 'score': 0.44}, {'connected_gene': 'MED26', 'score': 0.44}, {'connected_gene': 'ENSG00000268790', 'score': 0.26}]
chr19	GH19I016658	16658778	16662442	2.08	[{'connected_gene': 'TMEM38A', 'score': 574.63}, {'connected_gene': 'SMIM7', 'score': 571.24}, {'connected_gene': 'GC19P020284', 'score': 550.77}, {'connected_gene': 'ENSG00000268790', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 60.71}, {'connected_gene': 'ENSG00000268743', 'score': 50.14}, {'connected_gene': 'ENSG00000269578', 'score': 39.81}, {'connected_gene': 'C19orf44', 'score': 32.99}, {'connected_gene': 'MED26', 'score': 32.9}, {'connected_gene': 'HAUS8', 'score': 27.64}, {'connected_gene': 'COLGALT1', 'score': 20.85}, {'connected_gene': 'ENSG00000268087', 'score': 19.08}, {'connected_gene': 'SIN3B', 'score': 11.85}, {'connected_gene': 'TPM4', 'score': 10.74}, {'connected_gene': 'ENSG00000267904', 'score': 10.62}, {'connected_gene': 'RAB8A', 'score': 10.05}, {'connected_gene': 'GTPBP3', 'score': 10.02}, {'connected_gene': 'KLF2', 'score': 4.99}]
chr19	GH19I016670	16670378	16673046	0.31	[{'connected_gene': 'TMEM38A', 'score': 14.58}, {'connected_gene': 'CPAMD8', 'score': 10.25}, {'connected_gene': 'SMIM7', 'score': 8.35}, {'connected_gene': 'GC19P020284', 'score': 0.39}, {'connected_gene': 'GC19P020237', 'score': 0.28}]
chr19	GH19I016676	16676201	16676800	0.59	[{'connected_gene': 'TMEM38A', 'score': 24.23}, {'connected_gene': 'CPAMD8', 'score': 10.25}, {'connected_gene': 'GC19P020284', 'score': 0.37}, {'connected_gene': 'GC19P020237', 'score': 0.29}]
chr19	GH19I017605	17605401	17607323	1.26	[{'connected_gene': 'TMEM38A', 'score': 6.05}, {'connected_gene': 'GC19M017601', 'score': 0.77}, {'connected_gene': 'ENSG00000269752', 'score': 0.44}, {'connected_gene': 'UNC13A', 'score': 0.18}]
chr19	GH19I016668	16668500	16668848	0.43	[{'connected_gene': 'TMEM38A', 'score': 0.44}, {'connected_gene': 'GC19P020284', 'score': 0.44}, {'connected_gene': 'GC19P020237', 'score': 0.26}]
chr19	GH19I016663	16663702	16664767	0.92	[{'connected_gene': 'TMEM38A', 'score': 14.54}, {'connected_gene': 'GC19P020284', 'score': 0.77}, {'connected_gene': 'GC19P020237', 'score': 0.25}]
chr19	GH19I016469	16469798	16472800	2.18	[{'connected_gene': 'EPS15L1', 'score': 550.77}, {'connected_gene': 'C19orf44', 'score': 11.62}, {'connected_gene': 'ENSG00000269044', 'score': 5.58}, {'connected_gene': 'TMEM38A', 'score': 4.91}, {'connected_gene': 'ENSG00000267703', 'score': 0.29}, {'connected_gene': 'GC19M016221', 'score': 0.13}]
chr19	GH19I016626	16626450	16630582	2.27	[{'connected_gene': 'LOC105372296', 'score': 550.77}, {'connected_gene': 'ENSG00000141979', 'score': 550.77}, {'connected_gene': 'MED26', 'score': 550.77}, {'connected_gene': 'SMIM7', 'score': 23.12}, {'connected_gene': 'C19orf44', 'score': 21.05}, {'connected_gene': 'ENSG00000269578', 'score': 16.09}, {'connected_gene': 'COLGALT1', 'score': 14.61}, {'connected_gene': 'HAUS8', 'score': 14.16}, {'connected_gene': 'CHERP', 'score': 12.19}, {'connected_gene': 'SLC35E1', 'score': 11.81}, {'connected_gene': 'TMEM38A', 'score': 11.12}, {'connected_gene': 'ENSG00000269044', 'score': 10.88}, {'connected_gene': 'CYP4F12', 'score': 9.73}, {'connected_gene': 'RAB8A', 'score': 9.69}, {'connected_gene': 'ENSG00000267275', 'score': 5.04}, {'connected_gene': 'GC19M016631', 'score': 0.77}, {'connected_gene': 'ENSG00000268087', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.29}]
chr19	GH19I016323	16323468	16332536	2.48	[{'connected_gene': 'KLF2', 'score': 558.7}, {'connected_gene': 'C19orf44', 'score': 13.83}, {'connected_gene': 'SIN3B', 'score': 12.26}, {'connected_gene': 'CHERP', 'score': 10.35}, {'connected_gene': 'ENSG00000269578', 'score': 9.92}, {'connected_gene': 'ENSG00000268743', 'score': 9.89}, {'connected_gene': 'EPS15L1', 'score': 9.85}, {'connected_gene': 'MED26', 'score': 7.86}, {'connected_gene': 'TMEM38A', 'score': 4.91}, {'connected_gene': 'NR2F6', 'score': 4.9}, {'connected_gene': 'RAB8A', 'score': 4.67}, {'connected_gene': 'HSH2D', 'score': 2.89}, {'connected_gene': 'ENSG00000267275', 'score': 0.77}, {'connected_gene': 'ENSG00000277825', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19	GH19I016611	16611211	16612881	1.08	[{'connected_gene': 'ENSG00000279977', 'score': 550.77}, {'connected_gene': 'ENSG00000268087', 'score': 550.77}, {'connected_gene': 'C19orf44', 'score': 21.33}, {'connected_gene': 'CALR3', 'score': 12.79}, {'connected_gene': 'SLC35E1', 'score': 12.7}, {'connected_gene': 'CHERP', 'score': 11.82}, {'connected_gene': 'RN7SL146P', 'score': 11.81}, {'connected_gene': 'TMEM38A', 'score': 11.39}, {'connected_gene': 'SMIM7', 'score': 11.39}, {'connected_gene': 'EPS15L1', 'score': 10.99}, {'connected_gene': 'CPAMD8', 'score': 10.15}, {'connected_gene': 'ENSG00000269044', 'score': 7.53}, {'connected_gene': 'ENSG00000141979', 'score': 0.37}, {'connected_gene': 'MED26', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.25}]
chr19	GH19I016564	16564693	16567667	1.07	[{'connected_gene': 'ENSG00000269085', 'score': 550.77}, {'connected_gene': 'TMEM38A', 'score': 11.36}, {'connected_gene': 'C19orf44', 'score': 7.24}, {'connected_gene': 'ENSG00000269044', 'score': 7.13}, {'connected_gene': 'SLC35E1', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.31}, {'connected_gene': 'ENSG00000141979', 'score': 0.21}]
chr19	GH19I016577	16577503	16578713	0.31	[{'connected_gene': 'PIR43667', 'score': 550.77}, {'connected_gene': 'RN7SL146P', 'score': 12.37}, {'connected_gene': 'CHERP', 'score': 12.37}, {'connected_gene': 'ENSG00000141979', 'score': 11.86}, {'connected_gene': 'TMEM38A', 'score': 11.18}, {'connected_gene': 'SMIM7', 'score': 11.18}, {'connected_gene': 'C19orf44', 'score': 10.81}, {'connected_gene': 'EPS15L1', 'score': 10.52}, {'connected_gene': 'GC19P019771', 'score': 0.44}, {'connected_gene': 'LOC105372295', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.39}, {'connected_gene': 'MED26', 'score': 0.23}, {'connected_gene': 'ENSG00000268790', 'score': 0.18}]