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
ENST00000372476	[[43766663, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788779]]	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788393]]
ENST00000433781	[[43772890, 43772944], [43773102, 43773243], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788496]]	[[43774679, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788393]]
ENST00000488437	[[43774717, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43778148, 43778272]]	None
ENST00000538015	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774541, 43774639]]	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774541, 43774639]]
ENST00000441333	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43775058, 43775099]]	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43775058, 43775099]]
ENST00000485125	[[43768120, 43768184], [43770521, 43771014]]	None
ENST00000480269	[[43772812, 43772944], [43773102, 43773243], [43774656, 43774716]]	None
ENST00000471187	[[43778844, 43779096], [43779448, 43779821]]	None
ENST00000461061	[[43778858, 43779096], [43779448, 43779639], [43780053, 43780149], [43780831, 43780962]]	None
ENST00000473014	[[43778962, 43779639], [43782869, 43783743], [43784905, 43785019], [43785129, 43786551]]	None
ENST00000492599	[[43783600, 43783743], [43784905, 43785153]]	None
ENST00000492874	[[43785133, 43785200], [43785544, 43786094]]	None
NM_001253357	[[43766565, 43766800], [43770604, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788781]]	[[43766794, 43766800], [43770604, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788393]]
NM_005424	[[43766565, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788781]]	[[43766742, 43766800], [43770521, 43770836], [43770903, 43771014], [43772510, 43772666], [43772812, 43772944], [43773102, 43773243], [43773466, 43773595], [43774656, 43774802], [43775058, 43775203], [43777341, 43777500], [43777664, 43777802], [43777975, 43778272], [43778805, 43779096], [43779448, 43779639], [43782869, 43783080], [43783234, 43783345], [43783552, 43783743], [43784905, 43785019], [43785129, 43785200], [43786939, 43786980], [43787066, 43787163], [43787286, 43787386], [43788321, 43788393]]

Promoter

Chrom	Start	End	Description
chr1	43766619	43766635	CAGE_peak_3_at_TIE1_5end
chr1	43766642	43766667	CAGE_peak_2_at_TIE1_5end
chr1	43766668	43766696	CAGE_peak_1_at_TIE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I043323	43323472	43325280	0.46	[{'connected_gene': 'TIE1', 'score': 12.44}, {'connected_gene': 'CDC20', 'score': 10.91}, {'connected_gene': 'LOC105378687', 'score': 10.91}, {'connected_gene': 'ELOVL1', 'score': 10.88}, {'connected_gene': 'ENSG00000229431', 'score': 10.35}, {'connected_gene': 'MED8', 'score': 10.35}, {'connected_gene': 'SZT2', 'score': 4.74}, {'connected_gene': 'PIR52122', 'score': 0.77}]
chr1	GH01I043266	43266883	43268495	0.66	[{'connected_gene': 'CFAP57', 'score': 14.21}, {'connected_gene': 'TIE1', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 9.52}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1	GH01I043321	43321132	43321895	0.73	[{'connected_gene': 'MED8', 'score': 18.31}, {'connected_gene': 'CDC20', 'score': 11.03}, {'connected_gene': 'LOC105378687', 'score': 11.03}, {'connected_gene': 'ELOVL1', 'score': 11.0}, {'connected_gene': 'PTPRF', 'score': 10.59}, {'connected_gene': 'SZT2', 'score': 10.54}, {'connected_gene': 'ENSG00000229431', 'score': 10.13}, {'connected_gene': 'PIR52122', 'score': 0.44}, {'connected_gene': 'TIE1', 'score': 0.34}]
chr1	GH01I043314	43314606	43320128	0.56	[{'connected_gene': 'MED8', 'score': 53.73}, {'connected_gene': 'SZT2', 'score': 15.85}, {'connected_gene': 'MPL', 'score': 11.83}, {'connected_gene': 'EBNA1BP2', 'score': 11.13}, {'connected_gene': 'CDC20', 'score': 11.01}, {'connected_gene': 'LOC105378687', 'score': 11.01}, {'connected_gene': 'ELOVL1', 'score': 10.98}, {'connected_gene': 'PTPRF', 'score': 10.59}, {'connected_gene': 'ENSG00000229431', 'score': 10.12}, {'connected_gene': 'CFAP57', 'score': 9.93}, {'connected_gene': 'PIR52122', 'score': 0.39}, {'connected_gene': 'TIE1', 'score': 0.37}]
chr1	GH01I043293	43293181	43296964	1.47	[{'connected_gene': 'MED8', 'score': 38.58}, {'connected_gene': 'EBNA1BP2', 'score': 12.19}, {'connected_gene': 'MPL', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.14}, {'connected_gene': 'LOC105378687', 'score': 11.14}, {'connected_gene': 'ELOVL1', 'score': 11.12}, {'connected_gene': 'ENSG00000229431', 'score': 10.03}, {'connected_gene': 'SZT2', 'score': 10.02}, {'connected_gene': 'FAM183A', 'score': 9.36}, {'connected_gene': 'ATP6V0B', 'score': 7.1}, {'connected_gene': 'TIE1', 'score': 2.01}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1	GH01I043300	43300956	43303657	1.79	[{'connected_gene': 'GC01P043301', 'score': 550.77}, {'connected_gene': 'TIE1', 'score': 550.77}, {'connected_gene': 'MED8', 'score': 39.79}, {'connected_gene': 'FOXJ3', 'score': 13.02}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'ARTN', 'score': 10.87}, {'connected_gene': 'SZT2', 'score': 10.35}, {'connected_gene': 'DMAP1', 'score': 9.78}, {'connected_gene': 'HYI', 'score': 5.4}, {'connected_gene': 'PIR52122', 'score': 0.31}]
chr1	GH01I043539	43539788	43555179	1.66	[{'connected_gene': 'GC01M043545', 'score': 550.77}, {'connected_gene': 'LOC101929592', 'score': 19.21}, {'connected_gene': 'PTPRF', 'score': 18.16}, {'connected_gene': 'MED8', 'score': 14.9}, {'connected_gene': 'ST3GAL3', 'score': 10.67}, {'connected_gene': 'KDM4A-AS1', 'score': 10.66}, {'connected_gene': 'IPO13', 'score': 10.12}, {'connected_gene': 'LOC101929609', 'score': 10.12}, {'connected_gene': 'HYI', 'score': 5.31}, {'connected_gene': 'DPH2', 'score': 5.1}, {'connected_gene': 'ATP6V0B', 'score': 4.69}, {'connected_gene': 'TIE1', 'score': 4.49}, {'connected_gene': 'CCDC24', 'score': 3.5}, {'connected_gene': 'C1orf210', 'score': 2.82}, {'connected_gene': 'CFAP57', 'score': 1.32}]