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
ENST00000360428	[[28569973, 28574338], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622707]]	[[28574140, 28574338], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622626]]
ENST00000434452	[[28570051, 28574338], [28574419, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622781]]	[[28574435, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622626]]
ENST00000584980	[[28574091, 28574338], [28574419, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28586884]]	[[28574435, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28586884]]
NM_024423	[[28569330, 28574338], [28574419, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622781]]	[[28574435, 28574462], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622626]]
NM_001941	[[28569330, 28574338], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622781]]	[[28574140, 28574338], [28576756, 28577014], [28581583, 28581705], [28584107, 28584332], [28586872, 28587097], [28587981, 28588124], [28588234, 28588491], [28598036, 28598222], [28598631, 28598766], [28602301, 28602468], [28604314, 28604459], [28605725, 28605881], [28609474, 28609594], [28610938, 28611138], [28612157, 28612242], [28622557, 28622626]]

Promoter

Chrom	Start	End	Description
chr18	28622680	28622694	CAGE_peak_5_at_DSC3_5end
chr18	28622699	28622725	CAGE_peak_1_at_DSC3_5end
chr18	28622729	28622751	CAGE_peak_2_at_DSC3_5end
chr18	28622774	28622792	CAGE_peak_3_at_DSC3_5end
chr18	28622813	28622824	CAGE_peak_6_at_DSC3_5end
chr18	28622894	28622905	CAGE_peak_7_at_DSC3_5end
chr18	28622907	28622942	CAGE_peak_4_at_DSC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031446	31446853	31456243	1.56	[{'connected_gene': 'DSG3', 'score': 564.18}, {'connected_gene': 'DSG1-AS1', 'score': 11.33}, {'connected_gene': 'DSG2', 'score': 7.92}, {'connected_gene': 'DSC3', 'score': 1.76}, {'connected_gene': 'ENSG00000266521', 'score': 0.25}]
chr18	GH18I031267	31267630	31270385	0.76	[{'connected_gene': 'DSG1', 'score': 11.47}, {'connected_gene': 'DSC2', 'score': 5.46}, {'connected_gene': 'LOC105372049', 'score': 0.26}]
chr18	GH18I031225	31225278	31226609	0.91	[{'connected_gene': 'DSG1', 'score': 10.56}, {'connected_gene': 'DSC2', 'score': 4.86}, {'connected_gene': 'LOC105372049', 'score': 0.77}, {'connected_gene': 'PIR46251', 'score': 0.34}]
chr18	GH18I031240	31240575	31246454	1.59	[{'connected_gene': 'DSG1', 'score': 10.6}, {'connected_gene': 'DSC2', 'score': 6.2}, {'connected_gene': 'LOC105372049', 'score': 0.37}]
chr18	GH18I031156	31156754	31158167	0.59	[{'connected_gene': 'DSC1', 'score': 5.94}, {'connected_gene': 'DSC2', 'score': 4.53}, {'connected_gene': 'ENSG00000263698', 'score': 0.31}, {'connected_gene': 'DSCAS', 'score': 0.22}]
chr18	GH18I031154	31154274	31154398	0.35	[{'connected_gene': 'DSC1', 'score': 6.23}, {'connected_gene': 'DSC3', 'score': 1.36}, {'connected_gene': 'ENSG00000263698', 'score': 0.34}, {'connected_gene': 'DSCAS', 'score': 0.23}]
chr18	GH18I030991	30991875	30993379	0.2	[{'connected_gene': 'DSC3', 'score': 10.38}, {'connected_gene': 'DSG1', 'score': 10.18}, {'connected_gene': 'RNU6-857P', 'score': 0.44}]
chr18	GH18I031255	31255297	31256935	0.58	[{'connected_gene': 'DSC2', 'score': 16.03}, {'connected_gene': 'DSG1', 'score': 10.17}, {'connected_gene': 'LOC105372049', 'score': 0.31}]
chr18	GH18I031140	31140788	31141007	0.4	[{'connected_gene': 'DSC2', 'score': 11.5}, {'connected_gene': 'ENSG00000263698', 'score': 0.44}, {'connected_gene': 'DSC1', 'score': 0.34}, {'connected_gene': 'DSCAS', 'score': 0.28}]
chr18	GH18I031039	31039135	31043545	1.38	[{'connected_gene': 'DSC3', 'score': 563.79}, {'connected_gene': 'ENSG00000263924', 'score': 13.22}, {'connected_gene': 'DSC2', 'score': 10.83}, {'connected_gene': 'TRAPPC8', 'score': 10.49}, {'connected_gene': 'RNU6-857P', 'score': 0.22}]
chr18	GH18I031039	31039135	31043545	1.38	[{'connected_gene': 'DSC3', 'score': 563.79}, {'connected_gene': 'ENSG00000263924', 'score': 13.22}, {'connected_gene': 'DSC2', 'score': 10.83}, {'connected_gene': 'TRAPPC8', 'score': 10.49}, {'connected_gene': 'RNU6-857P', 'score': 0.22}]
chr18	GH18I031063	31063850	31065611	0.62	[{'connected_gene': 'DSC2', 'score': 10.59}, {'connected_gene': 'DSC3', 'score': 6.14}, {'connected_gene': 'GC18M031059', 'score': 0.44}, {'connected_gene': 'GC18P031094', 'score': 0.29}]
chr18	GH18I031063	31063850	31065611	0.62	[{'connected_gene': 'DSC2', 'score': 10.59}, {'connected_gene': 'DSC3', 'score': 6.14}, {'connected_gene': 'GC18M031059', 'score': 0.44}, {'connected_gene': 'GC18P031094', 'score': 0.29}]
chr18	GH18I031044	31044273	31047494	0.49	[{'connected_gene': 'DSC3', 'score': 13.68}, {'connected_gene': 'DSC2', 'score': 10.33}, {'connected_gene': 'GC18M031059', 'score': 0.39}]
chr18	GH18I031044	31044273	31047494	0.49	[{'connected_gene': 'DSC3', 'score': 13.68}, {'connected_gene': 'DSC2', 'score': 10.33}, {'connected_gene': 'GC18M031059', 'score': 0.39}]
chr18	GH18I031247	31247600	31250593	0.77	[{'connected_gene': 'DSC2', 'score': 15.7}, {'connected_gene': 'LOC105372049', 'score': 0.34}, {'connected_gene': 'DSG1', 'score': 0.2}]
chr18	GH18I031261	31261348	31263020	0.52	[{'connected_gene': 'DSC2', 'score': 5.95}, {'connected_gene': 'LOC105372049', 'score': 0.29}, {'connected_gene': 'DSG1', 'score': 0.22}]
chr18	GH18I031232	31232192	31234662	0.8	[{'connected_gene': 'DSC2', 'score': 7.87}, {'connected_gene': 'LOC105372049', 'score': 0.44}, {'connected_gene': 'DSG1', 'score': 0.18}]
chr18	GH18I031250	31250927	31251156	0.64	[{'connected_gene': 'DSC2', 'score': 9.94}, {'connected_gene': 'LOC105372049', 'score': 0.34}, {'connected_gene': 'DSG1', 'score': 0.2}]
chr18	GH18I031229	31229530	31231623	0.98	[{'connected_gene': 'DSC2', 'score': 7.87}, {'connected_gene': 'LOC105372049', 'score': 0.77}, {'connected_gene': 'DSG1', 'score': 0.17}]
chr18	GH18I031217	31217078	31217227	0.38	[{'connected_gene': 'DSC2', 'score': 9.8}, {'connected_gene': 'PIR46251', 'score': 0.39}, {'connected_gene': 'LOC105372049', 'score': 0.39}]
chr18	GH18I031210	31210849	31214308	0.58	[{'connected_gene': 'DSC2', 'score': 10.38}, {'connected_gene': 'PIR46251', 'score': 0.44}, {'connected_gene': 'LOC105372049', 'score': 0.37}]
chr18	GH18I031097	31097758	31103683	2.21	[{'connected_gene': 'DSC2', 'score': 558.94}, {'connected_gene': 'DSCAS', 'score': 550.77}, {'connected_gene': 'GC18P031094', 'score': 0.44}]
chr18	GH18I031103	31103718	31103867	0.66	[{'connected_gene': 'DSC2', 'score': 550.77}, {'connected_gene': 'DSCAS', 'score': 0.77}, {'connected_gene': 'ENSG00000263698', 'score': 0.31}]
chr18	GH18I031399	31399047	31402501	0.8	[{'connected_gene': 'RNU6-167P', 'score': 10.72}, {'connected_gene': 'DSG1', 'score': 10.67}, {'connected_gene': 'DSC2', 'score': 9.92}, {'connected_gene': 'DSG1-AS1', 'score': 9.08}, {'connected_gene': 'GC18P031391', 'score': 0.44}, {'connected_gene': 'DSG4', 'score': 0.34}, {'connected_gene': 'PIR43200', 'score': 0.34}]
chr18	GH18I031011	31011455	31011644	0.89	[{'connected_gene': 'RNU6-857P', 'score': 11.69}, {'connected_gene': 'DSC3', 'score': 11.14}, {'connected_gene': 'DSC2', 'score': 10.79}]
chr18	GH18I031011	31011455	31011644	0.89	[{'connected_gene': 'RNU6-857P', 'score': 11.69}, {'connected_gene': 'DSC3', 'score': 11.14}, {'connected_gene': 'DSC2', 'score': 10.79}]
chr18	GH18I030986	30986620	30988837	0.77	[{'connected_gene': 'RNU6-857P', 'score': 0.77}, {'connected_gene': 'DSC3', 'score': 0.22}]
chr18	GH18I031509	31509651	31514649	1.65	[{'connected_gene': 'ENSG00000266521', 'score': 21.6}, {'connected_gene': 'B4GALT6', 'score': 4.27}, {'connected_gene': 'DSG2', 'score': 3.56}, {'connected_gene': 'DSC3', 'score': 2.98}, {'connected_gene': 'DSG1', 'score': 2.69}, {'connected_gene': 'DSC2', 'score': 1.28}, {'connected_gene': 'DSG2-AS1', 'score': 0.26}]
chr18	GH18I031509	31509651	31514649	1.65	[{'connected_gene': 'ENSG00000266521', 'score': 21.6}, {'connected_gene': 'B4GALT6', 'score': 4.27}, {'connected_gene': 'DSG2', 'score': 3.56}, {'connected_gene': 'DSC3', 'score': 2.98}, {'connected_gene': 'DSG1', 'score': 2.69}, {'connected_gene': 'DSC2', 'score': 1.28}, {'connected_gene': 'DSG2-AS1', 'score': 0.26}]
chr18	GH18I031202	31202220	31209381	1.7	[{'connected_gene': 'PIR46251', 'score': 550.77}, {'connected_gene': 'DSC2', 'score': 17.55}, {'connected_gene': 'RNF138', 'score': 10.24}, {'connected_gene': 'DSC1', 'score': 9.61}, {'connected_gene': 'DSC3', 'score': 6.81}, {'connected_gene': 'DSG1', 'score': 5.32}, {'connected_gene': 'DSG3', 'score': 2.51}, {'connected_gene': 'DSG2', 'score': 2.16}, {'connected_gene': 'LOC105372049', 'score': 0.34}]
chr18	GH18I031202	31202220	31209381	1.7	[{'connected_gene': 'PIR46251', 'score': 550.77}, {'connected_gene': 'DSC2', 'score': 17.55}, {'connected_gene': 'RNF138', 'score': 10.24}, {'connected_gene': 'DSC1', 'score': 9.61}, {'connected_gene': 'DSC3', 'score': 6.81}, {'connected_gene': 'DSG1', 'score': 5.32}, {'connected_gene': 'DSG3', 'score': 2.51}, {'connected_gene': 'DSG2', 'score': 2.16}, {'connected_gene': 'LOC105372049', 'score': 0.34}]