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
ENST00000331035	[[1455508, 1455819], [1460620, 1460722], [1464208, 1464327], [1467323, 1467438], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501578]]	[[1460658, 1460722], [1464208, 1464327], [1467323, 1467438], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501358]]
ENST00000432757	[[1455688, 1455819], [1460620, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475224]]	[[1460658, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475224]]
ENST00000381469	[[1460658, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501358]]	[[1460658, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501358]]
ENST00000331035	[[1405508, 1405819], [1410620, 1410722], [1414208, 1414327], [1417323, 1417438], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451578]]	[[1410658, 1410722], [1414208, 1414327], [1417323, 1417438], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451358]]
ENST00000381469	[[1410658, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451358]]	[[1410658, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451358]]
ENST00000432757	[[1405688, 1405819], [1410620, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425224]]	[[1410658, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425224]]
NM_001267713	[[1455508, 1455819], [1460620, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501582]]	[[1460658, 1460722], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501358]]
NM_002183	[[1455508, 1455819], [1460620, 1460722], [1464208, 1464327], [1467323, 1467438], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501582]]	[[1460658, 1460722], [1464208, 1464327], [1467323, 1467438], [1470992, 1471125], [1471214, 1471399], [1475113, 1475229], [1477753, 1477780], [1484030, 1484145], [1497551, 1497657], [1499915, 1499997], [1501283, 1501358]]
NM_001267713	[[1405508, 1405819], [1410620, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451582]]	[[1410658, 1410722], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451358]]
NM_002183	[[1405508, 1405819], [1410620, 1410722], [1414208, 1414327], [1417323, 1417438], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451582]]	[[1410658, 1410722], [1414208, 1414327], [1417323, 1417438], [1420992, 1421125], [1421214, 1421399], [1425113, 1425229], [1427753, 1427780], [1434030, 1434145], [1447551, 1447657], [1449915, 1449997], [1451283, 1451358]]

Promoter

Chrom	Start	End	Description
chrX	1455478	1455515	CAGE_peak_2_at_IL3RA_5end
chrX	1455668	1455688	CAGE_peak_1_at_IL3RA_5end
chrX	1455724	1455733	CAGE_peak_3_at_IL3RA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chrX	GH0XI001405	1405491	1405823	0.56	[{'connected_gene': 'AKAP17A', 'score': 8.88}, {'connected_gene': 'ASMT', 'score': 8.42}, {'connected_gene': 'ASMTL', 'score': 6.39}, {'connected_gene': 'SLC25A6', 'score': 3.72}, {'connected_gene': 'CRLF2', 'score': 3.6}, {'connected_gene': 'P2RY8', 'score': 2.29}, {'connected_gene': 'CSF2RA', 'score': 2.14}, {'connected_gene': 'IL3RA', 'score': 1.42}, {'connected_gene': 'ASMTL-AS1', 'score': 0.44}]
chrX	GH0XI001208	1208201	1209074	0.97	[{'connected_gene': 'IL3RA', 'score': 7.23}, {'connected_gene': 'AKAP17A', 'score': 6.76}, {'connected_gene': 'ASMTL', 'score': 4.2}, {'connected_gene': 'CSF2RA', 'score': 2.97}, {'connected_gene': 'CRLF2', 'score': 2.82}, {'connected_gene': 'P2RY8', 'score': 2.02}, {'connected_gene': 'ASMT', 'score': 1.74}, {'connected_gene': 'LOC652608', 'score': 0.28}]
chrX	GH0XI000356	356602	358199	0.46	[{'connected_gene': 'IL3RA', 'score': 11.78}, {'connected_gene': 'GTPBP6', 'score': 10.97}, {'connected_gene': 'GC0XP000380', 'score': 0.34}, {'connected_gene': 'PPP2R3B', 'score': 0.31}, {'connected_gene': 'LINC00685', 'score': 0.28}]
chrX	GH0XI001215	1215042	1215800	0.81	[{'connected_gene': 'IL3RA', 'score': 18.17}, {'connected_gene': 'CSF2RA', 'score': 9.21}, {'connected_gene': 'AKAP17A', 'score': 4.85}, {'connected_gene': 'ASMTL', 'score': 4.78}, {'connected_gene': 'CRLF2', 'score': 3.41}, {'connected_gene': 'ASMT', 'score': 1.72}, {'connected_gene': 'SLC25A6', 'score': 1.68}, {'connected_gene': 'P2RY8', 'score': 1.44}]
chrX	GH0XI001339	1339801	1340200	0.31	[{'connected_gene': 'IL3RA', 'score': 0.77}, {'connected_gene': 'LOC101928055', 'score': 0.26}]
chrX	GH0XI001355	1355401	1356000	0.49	[{'connected_gene': 'IL3RA', 'score': 0.37}, {'connected_gene': 'LOC101928055', 'score': 0.31}]
chrX	GH0XI001336	1336400	1337401	1.32	[{'connected_gene': 'IL3RA', 'score': 550.77}, {'connected_gene': 'LOC101928055', 'score': 0.25}]
chrX	GH0XI001333	1333000	1334601	0.54	[{'connected_gene': 'IL3RA', 'score': 0.77}, {'connected_gene': 'GC0XM001318', 'score': 0.39}]
chrX	GH0XI001330	1330401	1331000	0.68	[{'connected_gene': 'IL3RA', 'score': 0.44}, {'connected_gene': 'GC0XM001318', 'score': 0.39}]
chrX	GH0XI001500	1500602	1505599	1.38	[{'connected_gene': 'P2RY8', 'score': 16.34}, {'connected_gene': 'AKAP17A', 'score': 16.15}, {'connected_gene': 'CSF2RA', 'score': 14.59}, {'connected_gene': 'IL3RA', 'score': 8.27}, {'connected_gene': 'ASMTL', 'score': 5.94}, {'connected_gene': 'ASMT', 'score': 2.45}, {'connected_gene': 'CRLF2', 'score': 2.36}, {'connected_gene': 'SLC25A6', 'score': 1.83}]
chrX	GH0XI001239	1239401	1240400	1.01	[{'connected_gene': 'CSF2RA', 'score': 17.6}, {'connected_gene': 'IL3RA', 'score': 15.96}, {'connected_gene': 'ASMTL', 'score': 5.74}, {'connected_gene': 'AKAP17A', 'score': 4.19}, {'connected_gene': 'CRLF2', 'score': 3.7}, {'connected_gene': 'ASMT', 'score': 2.63}, {'connected_gene': 'SLC25A6', 'score': 2.33}, {'connected_gene': 'P2RY8', 'score': 2.13}]
chrX	GH0XI001247	1247968	1250400	1.06	[{'connected_gene': 'CSF2RA', 'score': 38.67}, {'connected_gene': 'IL3RA', 'score': 14.8}, {'connected_gene': 'ASMTL', 'score': 5.74}, {'connected_gene': 'AKAP17A', 'score': 4.51}, {'connected_gene': 'CRLF2', 'score': 4.07}, {'connected_gene': 'ASMT', 'score': 2.82}, {'connected_gene': 'P2RY8', 'score': 2.74}, {'connected_gene': 'SLC25A6', 'score': 2.23}]
chrX	GH0XI001316	1316201	1317200	0.78	[{'connected_gene': 'CSF2RA', 'score': 32.24}, {'connected_gene': 'IL3RA', 'score': 19.88}, {'connected_gene': 'ASMTL', 'score': 6.32}, {'connected_gene': 'AKAP17A', 'score': 3.56}, {'connected_gene': 'ASMT', 'score': 3.05}, {'connected_gene': 'SLC25A6', 'score': 2.7}, {'connected_gene': 'P2RY8', 'score': 2.47}, {'connected_gene': 'CRLF2', 'score': 1.81}, {'connected_gene': 'GC0XM001318', 'score': 0.77}, {'connected_gene': 'RNA5SP498', 'score': 0.37}]
chrX	GH0XI001222	1222899	1223207	0.74	[{'connected_gene': 'CSF2RA', 'score': 17.0}, {'connected_gene': 'IL3RA', 'score': 15.82}, {'connected_gene': 'ASMTL', 'score': 4.27}, {'connected_gene': 'AKAP17A', 'score': 2.61}, {'connected_gene': 'ASMT', 'score': 2.38}, {'connected_gene': 'P2RY8', 'score': 2.24}, {'connected_gene': 'SLC25A6', 'score': 2.12}, {'connected_gene': 'CRLF2', 'score': 1.76}]
chrX	GH0XI001480	1480802	1482600	1.48	[{'connected_gene': 'CSF2RA', 'score': 8.84}, {'connected_gene': 'P2RY8', 'score': 6.53}, {'connected_gene': 'ASMTL', 'score': 5.69}, {'connected_gene': 'AKAP17A', 'score': 4.81}, {'connected_gene': 'ASMT', 'score': 1.95}, {'connected_gene': 'IL3RA', 'score': 1.9}, {'connected_gene': 'SLC25A6', 'score': 1.5}]
chrX	GH0XI001380	1380801	1381000	0.52	[{'connected_gene': 'LOC101928055', 'score': 550.77}, {'connected_gene': 'AKAP17A', 'score': 10.98}, {'connected_gene': 'ASMT', 'score': 10.18}, {'connected_gene': 'IL3RA', 'score': 0.26}]
chrX	GH0XI001320	1320200	1320601	0.56	[{'connected_gene': 'GC0XM001318', 'score': 550.77}, {'connected_gene': 'IL3RA', 'score': 0.37}, {'connected_gene': 'CSF2RA', 'score': 0.23}]