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
ENST00000590060	[[1086593, 1086987], [1088064, 1088165], [1088607, 1088642]]	None
ENST00000586746	[[1086874, 1086987], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095353]]	[[1089484, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095314]]
ENST00000215587	[[1088146, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095598]]	[[1089484, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095314]]
ENST00000586817	[[1088165, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1095374]]	None
ENST00000591767	[[1088319, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093754, 1093902], [1095257, 1095335]]	[[1091904, 1091906], [1093754, 1093902], [1095257, 1095314]]
ENST00000586215	[[1088422, 1088719], [1089470, 1089929]]	None
ENST00000585838	[[1088634, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090140], [1090906, 1090987], [1091790, 1091906], [1092311, 1092345]]	None
ENST00000589737	[[1088663, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1095257, 1095374]]	[[1091807, 1091906], [1095257, 1095314]]
ENST00000591709	[[1091499, 1091906], [1093902, 1094077], [1095257, 1095360]]	None
ENST00000592597	[[1093728, 1094077], [1095257, 1095348]]	None
NM_002695	[[1086577, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095391]]	[[1089484, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093902, 1094077], [1095257, 1095314]]
NM_001316324	[[1086577, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1093754, 1093902], [1095257, 1095391]]	[[1089484, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091859]]
NM_001316323	[[1086577, 1088719], [1089470, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091906], [1095257, 1095391]]	[[1089484, 1089550], [1089882, 1089961], [1090085, 1090144], [1090906, 1090987], [1091790, 1091859]]

Promoter

Chrom	Start	End	Description
chr19	1089971	1090004	CAGE_peak_4_at_POLR2E_5end
chr19	1090012	1090018	CAGE_peak_7_at_POLR2E_5end
chr19	1095330	1095381	CAGE_peak_1_at_POLR2E_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001175	1175107	1179042	1.23	[{'connected_gene': 'STK11', 'score': 550.77}, {'connected_gene': 'POLR2E', 'score': 5.96}, {'connected_gene': 'SBNO2', 'score': 2.34}, {'connected_gene': 'ARHGAP45', 'score': 2.21}, {'connected_gene': 'MIDN', 'score': 1.81}, {'connected_gene': 'TMEM259', 'score': 1.73}]
chr19	GH19I001122	1122863	1124148	0.95	[{'connected_gene': 'STK11', 'score': 12.42}, {'connected_gene': 'SBNO2', 'score': 12.42}, {'connected_gene': 'POLR2E', 'score': 6.46}, {'connected_gene': 'GPX4', 'score': 5.6}, {'connected_gene': 'GC19M001134', 'score': 0.37}, {'connected_gene': 'GC19P001106', 'score': 0.37}]
chr19	GH19I001093	1093394	1096259	2.24	[{'connected_gene': 'POLR2E', 'score': 567.0}, {'connected_gene': 'GPX4', 'score': 13.03}, {'connected_gene': 'ARHGAP45', 'score': 11.48}, {'connected_gene': 'PIR52456', 'score': 0.44}]
chr19	GH19I001090	1090687	1091769	0.31	[{'connected_gene': 'POLR2E', 'score': 31.67}, {'connected_gene': 'GPX4', 'score': 6.68}, {'connected_gene': 'PIR52456', 'score': 0.77}]
chr19	GH19I001079	1079184	1080212	0.79	[{'connected_gene': 'POLR2E', 'score': 9.59}, {'connected_gene': 'PIR52456', 'score': 0.44}, {'connected_gene': 'ARHGAP45', 'score': 0.39}]
chr19	GH19I001116	1116121	1118221	0.52	[{'connected_gene': 'POLR2E', 'score': 6.52}, {'connected_gene': 'GC19P001106', 'score': 0.39}, {'connected_gene': 'GC19M001134', 'score': 0.34}, {'connected_gene': 'SBNO2', 'score': 0.22}]
chr19	GH19I001065	1063002	1063600	0.94	[{'connected_gene': 'POLR2E', 'score': 15.2}, {'connected_gene': 'ABCA7', 'score': 11.41}, {'connected_gene': 'WDR18', 'score': 6.76}, {'connected_gene': 'ARHGAP45', 'score': 5.55}, {'connected_gene': 'GC19M001049', 'score': 0.39}]
chr19	GH19I001097	1097570	1114561	2.85	[{'connected_gene': 'GPX4', 'score': 571.75}, {'connected_gene': 'GC19P001105', 'score': 550.77}, {'connected_gene': 'GC19P001106', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 44.77}, {'connected_gene': 'TMEM259', 'score': 30.42}, {'connected_gene': 'ENSG00000267283', 'score': 20.34}, {'connected_gene': 'LOC100288123', 'score': 18.77}, {'connected_gene': 'ENSG00000261526', 'score': 14.52}, {'connected_gene': 'MED16', 'score': 13.82}, {'connected_gene': 'TCF3', 'score': 13.73}, {'connected_gene': 'PTBP1', 'score': 12.78}, {'connected_gene': 'WDR18', 'score': 11.92}, {'connected_gene': 'GRIN3B', 'score': 11.23}, {'connected_gene': 'SCAMP4', 'score': 11.09}, {'connected_gene': 'RPS15', 'score': 10.6}, {'connected_gene': 'MEX3D', 'score': 10.13}, {'connected_gene': 'SBNO2', 'score': 7.19}, {'connected_gene': 'POLR2E', 'score': 6.8}, {'connected_gene': 'FSTL3', 'score': 6.12}, {'connected_gene': 'ABCA7', 'score': 5.12}, {'connected_gene': 'PLK5', 'score': 5.03}, {'connected_gene': 'MIDN', 'score': 4.08}, {'connected_gene': 'ARHGAP45', 'score': 2.32}]
chr19	GH19I001406	1406078	1419581	2.79	[{'connected_gene': 'DAZAP1', 'score': 571.85}, {'connected_gene': 'TCF3', 'score': 51.42}, {'connected_gene': 'SF3A2', 'score': 49.4}, {'connected_gene': 'TMEM259', 'score': 46.61}, {'connected_gene': 'PTBP1', 'score': 36.05}, {'connected_gene': 'LOC100288123', 'score': 35.55}, {'connected_gene': 'GRIN3B', 'score': 28.03}, {'connected_gene': 'RPS15', 'score': 24.67}, {'connected_gene': 'ENSG00000267317', 'score': 23.62}, {'connected_gene': 'CIRBP', 'score': 23.26}, {'connected_gene': 'MED16', 'score': 21.37}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.77}, {'connected_gene': 'SPPL2B', 'score': 10.22}, {'connected_gene': 'CNN2', 'score': 10.03}, {'connected_gene': 'C19orf24', 'score': 9.98}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.84}, {'connected_gene': 'POLR2E', 'score': 3.99}, {'connected_gene': 'GPX4', 'score': 3.17}, {'connected_gene': 'REXO1', 'score': 1.97}, {'connected_gene': 'ARHGAP45', 'score': 1.92}, {'connected_gene': 'SCAMP4', 'score': 1.52}, {'connected_gene': 'ADAT3', 'score': 1.52}, {'connected_gene': 'ABHD17A', 'score': 1.44}, {'connected_gene': 'UQCR11', 'score': 1.28}, {'connected_gene': 'GC19P001423', 'score': 0.44}]
chr19	GH19I001179	1179722	1186564	1.64	[{'connected_gene': 'DAZAP1', 'score': 26.77}, {'connected_gene': 'MIER2', 'score': 23.68}, {'connected_gene': 'LOC100288123', 'score': 18.64}, {'connected_gene': 'TCF3', 'score': 16.93}, {'connected_gene': 'TMEM259', 'score': 16.05}, {'connected_gene': 'DOT1L', 'score': 11.98}, {'connected_gene': 'PTBP1', 'score': 11.94}, {'connected_gene': 'MED16', 'score': 11.45}, {'connected_gene': 'ENSG00000267317', 'score': 11.33}, {'connected_gene': 'GRIN3B', 'score': 10.58}, {'connected_gene': 'RNF126', 'score': 10.54}, {'connected_gene': 'ATP8B3', 'score': 10.23}, {'connected_gene': 'POLR2E', 'score': 7.65}, {'connected_gene': 'ARHGAP45', 'score': 6.55}, {'connected_gene': 'SBNO2', 'score': 2.18}, {'connected_gene': 'STK11', 'score': 0.44}, {'connected_gene': 'HMGB2P1', 'score': 0.34}]
chr19	GH19I001074	1074201	1078735	1.93	[{'connected_gene': 'ARHGAP45', 'score': 561.83}, {'connected_gene': 'POLR2E', 'score': 16.96}, {'connected_gene': 'ABCA7', 'score': 15.65}, {'connected_gene': 'PIR52456', 'score': 0.44}]
chr19	GH19I001070	1070527	1072133	1.52	[{'connected_gene': 'ARHGAP45', 'score': 556.35}, {'connected_gene': 'POLR2E', 'score': 9.13}, {'connected_gene': 'PIR52456', 'score': 0.39}]
chr19	GH19I001064	1064162	1070153	2.45	[{'connected_gene': 'ARHGAP45', 'score': 569.05}, {'connected_gene': 'ABCA7', 'score': 18.81}, {'connected_gene': 'DAZAP1', 'score': 12.19}, {'connected_gene': 'POLR2E', 'score': 11.33}, {'connected_gene': 'SBNO2', 'score': 10.0}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'MIDN', 'score': 9.21}, {'connected_gene': 'R3HDM4', 'score': 7.33}, {'connected_gene': 'CIRBP', 'score': 2.52}, {'connected_gene': 'TMEM259', 'score': 1.39}, {'connected_gene': 'PIR52456', 'score': 0.37}]
chr19	GH19I001130	1130371	1134697	2.37	[{'connected_gene': 'SBNO2', 'score': 580.39}, {'connected_gene': 'MIDN', 'score': 13.46}, {'connected_gene': 'ARHGAP45', 'score': 5.66}, {'connected_gene': 'POLR2E', 'score': 5.18}, {'connected_gene': 'SHC2', 'score': 4.93}, {'connected_gene': 'R3HDM4', 'score': 4.41}, {'connected_gene': 'ABCA7', 'score': 3.2}, {'connected_gene': 'ARID3A', 'score': 1.45}, {'connected_gene': 'CIRBP', 'score': 1.31}, {'connected_gene': 'TMEM259', 'score': 1.27}, {'connected_gene': 'GC19M001134', 'score': 0.44}, {'connected_gene': 'GC19P001106', 'score': 0.31}]
chr19	GH19I001125	1125495	1127439	1.13	[{'connected_gene': 'SBNO2', 'score': 29.72}, {'connected_gene': 'STK11', 'score': 12.42}, {'connected_gene': 'POLR2E', 'score': 4.83}, {'connected_gene': 'MIDN', 'score': 1.96}, {'connected_gene': 'GC19M001134', 'score': 0.39}, {'connected_gene': 'GC19P001106', 'score': 0.37}]
chr19	GH19I001080	1080924	1083866	1.27	[{'connected_gene': 'ABCA7', 'score': 13.73}, {'connected_gene': 'POLR2E', 'score': 12.96}, {'connected_gene': 'ARHGAP45', 'score': 10.64}, {'connected_gene': 'WDR18', 'score': 7.86}, {'connected_gene': 'PIR52456', 'score': 0.77}]
chr19	GH19I001086	1086064	1089400	1.14	[{'connected_gene': 'PIR52456', 'score': 550.77}, {'connected_gene': 'POLR2E', 'score': 31.2}, {'connected_gene': 'ABCA7', 'score': 14.79}, {'connected_gene': 'ARHGAP45', 'score': 9.32}, {'connected_gene': 'GPX4', 'score': 6.99}]
chr19	GH19I001091	1090062	1090251	0.31	[{'connected_gene': 'PIR52456', 'score': 0.77}, {'connected_gene': 'POLR2E', 'score': 0.44}]
chr19	GH19I001089	1089662	1089811	0.43	[{'connected_gene': 'PIR52456', 'score': 0.77}, {'connected_gene': 'POLR2E', 'score': 0.44}]
chr19	GH19I001050	1050837	1052337	0.8	[{'connected_gene': 'GC19M001049', 'score': 550.77}, {'connected_gene': 'ABCA7', 'score': 7.42}, {'connected_gene': 'ARHGAP45', 'score': 6.69}, {'connected_gene': 'GRIN3B', 'score': 6.12}, {'connected_gene': 'POLR2E', 'score': 4.93}]