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
ENST00000264335	[[1247565, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1303340, 1303672]]	[[1248740, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1303340, 1303404]]
ENST00000466227	[[1247832, 1248793], [1257504, 1257641], [1265223, 1265302], [1268152, 1268352]]	[[1257591, 1257641], [1265223, 1265302], [1268152, 1268352]]
ENST00000571732	[[1247833, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1273002, 1273035], [1303340, 1303514]]	[[1248740, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268350]]
ENST00000573026	[[1248148, 1248793], [1303340, 1303475]]	[[1248740, 1248793], [1303340, 1303404]]
ENST00000496706	[[1248448, 1248793], [1251255, 1251302], [1257504, 1257641], [1264385, 1264588]]	[[1251294, 1251302], [1257504, 1257641], [1264385, 1264588]]
ENST00000573196	[[1248551, 1248793], [1257504, 1257641], [1268152, 1268352], [1303340, 1303500]]	[[1257620, 1257641], [1268152, 1268352], [1303340, 1303404]]
ENST00000575977	[[1248621, 1248793], [1268152, 1268352], [1303340, 1303508]]	[[1248733, 1248793], [1268152, 1268352], [1303340, 1303404]]
ENST00000469398	[[1264964, 1265302], [1268152, 1268352], [1273002, 1273035], [1303340, 1303445]]	None
ENST00000486241	[[1264974, 1265302], [1268152, 1268352], [1303340, 1303503]]	None
ENST00000489287	[[1268041, 1268352], [1303340, 1303494]]	None
ENST00000576854	[[1302126, 1303500]]	None
ENST00000572108	[[1302171, 1302310], [1302764, 1302883]]	None
ENST00000498643	[[1302337, 1302560], [1303340, 1303429]]	None
NR_024058	[[1247833, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1273002, 1273035], [1303340, 1303556]]	None
NM_006761	[[1247833, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1303340, 1303556]]	[[1248740, 1248793], [1257504, 1257641], [1264385, 1264592], [1265195, 1265302], [1268152, 1268352], [1303340, 1303404]]

Promoter

Chrom	Start	End	Description
chr17	1303462	1303523	CAGE_peak_1_at_YWHAE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I001499	1499027	1499176	0.63	[{'connected_gene': 'YWHAE', 'score': 11.38}, {'connected_gene': 'PITPNA', 'score': 11.24}, {'connected_gene': 'LOC105371483', 'score': 0.44}, {'connected_gene': 'INPP5K', 'score': 0.37}]
chr17	GH17I001374	1374319	1377776	0.9	[{'connected_gene': 'YWHAE', 'score': 19.14}, {'connected_gene': 'INPP5K', 'score': 11.49}, {'connected_gene': 'MYO1C', 'score': 11.43}, {'connected_gene': 'PITPNA', 'score': 11.4}, {'connected_gene': 'TUSC5', 'score': 11.1}, {'connected_gene': 'BHLHA9', 'score': 11.09}, {'connected_gene': 'CRK', 'score': 9.6}, {'connected_gene': 'GC17P001386', 'score': 0.39}, {'connected_gene': 'ENSG00000280408', 'score': 0.34}]
chr17	GH17I001347	1347324	1349358	1.07	[{'connected_gene': 'YWHAE', 'score': 11.71}, {'connected_gene': 'CRK', 'score': 7.94}, {'connected_gene': 'GC17P001343', 'score': 0.77}, {'connected_gene': 'ENSG00000280408', 'score': 0.77}]
chr17	GH17I001267	1267316	1269200	1.7	[{'connected_gene': 'YWHAE', 'score': 10.54}, {'connected_gene': 'WDR81', 'score': 3.25}, {'connected_gene': 'ABR', 'score': 1.59}, {'connected_gene': 'PITPNA', 'score': 1.47}, {'connected_gene': 'GC17M001262', 'score': 0.77}, {'connected_gene': 'BHLHA9', 'score': 0.77}]
chr17	GH17I001508	1508827	1509987	0.77	[{'connected_gene': 'YWHAE', 'score': 11.54}, {'connected_gene': 'SLC43A2', 'score': 11.16}, {'connected_gene': 'INPP5K', 'score': 0.44}, {'connected_gene': 'LOC105371483', 'score': 0.37}]
chr17	GH17I001397	1397313	1401061	2.29	[{'connected_gene': 'YWHAE', 'score': 550.77}, {'connected_gene': 'GC17M001398', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 15.13}, {'connected_gene': 'WDR81', 'score': 14.04}, {'connected_gene': 'GEMIN4', 'score': 11.72}, {'connected_gene': 'SMYD4', 'score': 10.52}, {'connected_gene': 'DPH1', 'score': 10.37}, {'connected_gene': 'ENSG00000262777', 'score': 10.31}, {'connected_gene': 'CRK', 'score': 7.37}, {'connected_gene': 'PIR43544', 'score': 0.77}, {'connected_gene': 'GC17M001399', 'score': 0.77}]
chr17	GH17I001446	1446407	1448190	0.78	[{'connected_gene': 'YWHAE', 'score': 12.18}, {'connected_gene': 'PITPNA-AS1', 'score': 12.07}, {'connected_gene': 'INPP5K', 'score': 12.07}, {'connected_gene': 'MYO1C', 'score': 11.68}, {'connected_gene': 'CRK', 'score': 11.6}, {'connected_gene': 'PITPNA', 'score': 10.73}, {'connected_gene': 'ENSG00000262777', 'score': 0.34}]
chr17	GH17I001505	1505224	1506118	0.2	[{'connected_gene': 'PITPNA', 'score': 28.74}, {'connected_gene': 'YWHAE', 'score': 11.37}, {'connected_gene': 'INPP5K', 'score': 10.01}, {'connected_gene': 'LOC105371483', 'score': 0.39}]
chr17	GH17I001506	1506143	1507672	0.38	[{'connected_gene': 'PITPNA', 'score': 28.21}, {'connected_gene': 'YWHAE', 'score': 11.54}, {'connected_gene': 'INPP5K', 'score': 10.04}, {'connected_gene': 'LOC105371483', 'score': 0.39}]
chr17	GH17I001554	1554917	1558617	1.37	[{'connected_gene': 'PITPNA', 'score': 29.18}, {'connected_gene': 'INPP5K', 'score': 19.21}, {'connected_gene': 'PITPNA-AS1', 'score': 17.51}, {'connected_gene': 'YWHAE', 'score': 10.62}, {'connected_gene': 'SLC43A2', 'score': 8.74}, {'connected_gene': 'SCARF1', 'score': 8.34}, {'connected_gene': 'CRK', 'score': 4.23}, {'connected_gene': 'WDR81', 'score': 3.16}, {'connected_gene': 'PIR42053', 'score': 0.37}, {'connected_gene': 'GC17M001550', 'score': 0.11}]
chr17	GH17I001520	1520654	1522156	0.51	[{'connected_gene': 'PITPNA', 'score': 19.93}, {'connected_gene': 'MYO1C', 'score': 11.93}, {'connected_gene': 'YWHAE', 'score': 11.16}, {'connected_gene': 'INPP5K', 'score': 10.21}, {'connected_gene': 'PIR60547', 'score': 0.77}, {'connected_gene': 'GC17M001526', 'score': 0.77}, {'connected_gene': 'PIR53156', 'score': 0.39}]
chr17	GH17I001473	1473927	1474096	0.63	[{'connected_gene': 'INPP5K', 'score': 13.16}, {'connected_gene': 'PITPNA-AS1', 'score': 11.78}, {'connected_gene': 'YWHAE', 'score': 11.56}, {'connected_gene': 'GC17M001474', 'score': 0.44}, {'connected_gene': 'GC17M001459', 'score': 0.39}, {'connected_gene': 'MYO1C', 'score': 0.37}]
chr17	GH17I001474	1474327	1476021	0.72	[{'connected_gene': 'INPP5K', 'score': 13.16}, {'connected_gene': 'PITPNA-AS1', 'score': 11.78}, {'connected_gene': 'YWHAE', 'score': 11.56}, {'connected_gene': 'CRK', 'score': 6.87}, {'connected_gene': 'MYO1C', 'score': 5.43}, {'connected_gene': 'GC17M001474', 'score': 0.44}, {'connected_gene': 'GC17M001459', 'score': 0.39}]
chr17	GH17I001484	1484053	1493258	2.61	[{'connected_gene': 'MYO1C', 'score': 557.61}, {'connected_gene': 'PITPNA', 'score': 16.94}, {'connected_gene': 'PRPF8', 'score': 15.89}, {'connected_gene': 'WDR81', 'score': 14.01}, {'connected_gene': 'SMYD4', 'score': 12.68}, {'connected_gene': 'GEMIN4', 'score': 11.47}, {'connected_gene': 'DPH1', 'score': 11.43}, {'connected_gene': 'YWHAE', 'score': 11.07}, {'connected_gene': 'ENSG00000262228', 'score': 9.97}, {'connected_gene': 'INPP5K', 'score': 9.77}, {'connected_gene': 'TUSC5', 'score': 5.77}, {'connected_gene': 'RPS4XP17', 'score': 5.66}, {'connected_gene': 'TIMM22', 'score': 5.55}, {'connected_gene': 'LOC105371483', 'score': 0.77}, {'connected_gene': 'GC17M001482', 'score': 0.44}]
chr17	GH17I001437	1437940	1440011	0.89	[{'connected_gene': 'MYO1C', 'score': 18.02}, {'connected_gene': 'CRK', 'score': 14.73}, {'connected_gene': 'YWHAE', 'score': 12.54}, {'connected_gene': 'PITPNA-AS1', 'score': 12.05}, {'connected_gene': 'INPP5K', 'score': 12.05}, {'connected_gene': 'PITPNA', 'score': 10.73}, {'connected_gene': 'ENSG00000262777', 'score': 0.39}]
chr17	GH17I001328	1328150	1331140	0.38	[{'connected_gene': 'TUSC5', 'score': 18.92}, {'connected_gene': 'YWHAE', 'score': 15.96}, {'connected_gene': 'BHLHA9', 'score': 12.38}, {'connected_gene': 'INPP5K', 'score': 11.01}, {'connected_gene': 'MYO1C', 'score': 10.72}, {'connected_gene': 'SMYD4', 'score': 8.97}, {'connected_gene': 'RPA1', 'score': 8.97}, {'connected_gene': 'CRK', 'score': 6.55}, {'connected_gene': 'GC17P001337', 'score': 0.44}, {'connected_gene': 'GC17M001298', 'score': 0.39}]
chr17	GH17I001448	1448658	1450168	0.57	[{'connected_gene': 'CRK', 'score': 13.16}, {'connected_gene': 'YWHAE', 'score': 12.18}, {'connected_gene': 'MYO1C', 'score': 11.76}, {'connected_gene': 'INPP5K', 'score': 11.7}, {'connected_gene': 'PITPNA', 'score': 10.52}, {'connected_gene': 'ENSG00000262777', 'score': 0.34}]
chr17	GH17I001365	1365047	1368340	1.24	[{'connected_gene': 'CRK', 'score': 8.33}, {'connected_gene': 'ENSG00000280408', 'score': 0.39}, {'connected_gene': 'GC17P001386', 'score': 0.37}, {'connected_gene': 'YWHAE', 'score': 0.29}]
chr17	GH17I001388	1388802	1391799	1.24	[{'connected_gene': 'CRK', 'score': 5.4}, {'connected_gene': 'GC17P001386', 'score': 0.77}, {'connected_gene': 'PIR46041', 'score': 0.44}, {'connected_gene': 'YWHAE', 'score': 0.39}]
chr17	GH17I001360	1360886	1361288	0.4	[{'connected_gene': 'CRK', 'score': 8.0}, {'connected_gene': 'ENSG00000280408', 'score': 0.44}, {'connected_gene': 'GC17P001386', 'score': 0.31}, {'connected_gene': 'YWHAE', 'score': 0.28}]
chr17	GH17I001362	1362021	1364275	1.03	[{'connected_gene': 'CRK', 'score': 8.01}, {'connected_gene': 'ENSG00000280408', 'score': 0.39}, {'connected_gene': 'GC17P001386', 'score': 0.34}, {'connected_gene': 'YWHAE', 'score': 0.28}]
chr17	GH17I001581	1580821	1582809	0.63	[{'connected_gene': 'SLC43A2', 'score': 12.48}, {'connected_gene': 'SCARF1', 'score': 12.09}, {'connected_gene': 'RILP', 'score': 12.08}, {'connected_gene': 'YWHAE', 'score': 9.79}, {'connected_gene': 'PIR53488', 'score': 0.44}, {'connected_gene': 'RN7SL105P', 'score': 0.34}, {'connected_gene': 'GC17M001550', 'score': 0.13}]
chr17	GH17I001580	1580131	1580679	0.2	[{'connected_gene': 'SLC43A2', 'score': 12.48}, {'connected_gene': 'SCARF1', 'score': 12.08}, {'connected_gene': 'RILP', 'score': 12.08}, {'connected_gene': 'YWHAE', 'score': 9.79}, {'connected_gene': 'PIR53488', 'score': 0.44}, {'connected_gene': 'RN7SL105P', 'score': 0.34}, {'connected_gene': 'GC17M001550', 'score': 0.13}]
chr17	GH17I001379	1379947	1380096	0.77	[{'connected_gene': 'GC17P001386', 'score': 0.44}, {'connected_gene': 'YWHAE', 'score': 0.34}, {'connected_gene': 'ENSG00000280408', 'score': 0.31}]
chr17	GH17I001342	1342193	1342859	0.76	[{'connected_gene': 'GC17P001343', 'score': 550.77}, {'connected_gene': 'YWHAE', 'score': 11.16}, {'connected_gene': 'GC17P001337', 'score': 0.44}]
chr17	GH17I001380	1380201	1380400	0.79	[{'connected_gene': 'GC17P001386', 'score': 0.44}, {'connected_gene': 'YWHAE', 'score': 0.34}, {'connected_gene': 'ENSG00000280408', 'score': 0.31}]
chr17	GH17I001353	1353583	1354525	0.38	[{'connected_gene': 'ENSG00000280408', 'score': 550.77}, {'connected_gene': 'YWHAE', 'score': 11.72}, {'connected_gene': 'GC17P001386', 'score': 0.29}]
chr17	GH17I001079	1079849	1084453	1.34	[{'connected_gene': 'ENSG00000235361', 'score': 11.04}, {'connected_gene': 'ABR', 'score': 11.0}, {'connected_gene': 'YWHAE', 'score': 9.61}, {'connected_gene': 'MYO1C', 'score': 5.14}, {'connected_gene': 'ENSG00000278794', 'score': 0.37}, {'connected_gene': 'MIR3183', 'score': 0.22}]
chr17	GH17I001125	1125739	1126614	0.57	[{'connected_gene': 'ENSG00000235361', 'score': 12.34}, {'connected_gene': 'ABR', 'score': 12.26}, {'connected_gene': 'YWHAE', 'score': 10.59}, {'connected_gene': 'ENSG00000278794', 'score': 0.34}, {'connected_gene': 'LOC105371480', 'score': 0.31}]
chr17	GH17I001122	1122103	1125022	1.24	[{'connected_gene': 'ENSG00000235361', 'score': 12.34}, {'connected_gene': 'ABR', 'score': 12.26}, {'connected_gene': 'GEMIN4', 'score': 12.06}, {'connected_gene': 'WDR81', 'score': 11.95}, {'connected_gene': 'PRPF8', 'score': 10.98}, {'connected_gene': 'YWHAE', 'score': 10.59}, {'connected_gene': 'HIC1', 'score': 10.08}, {'connected_gene': 'SMYD4', 'score': 9.8}, {'connected_gene': 'ENSG00000278794', 'score': 0.34}, {'connected_gene': 'LOC105371480', 'score': 0.29}]
chr17	GH17I001332	1332647	1332816	0.73	[{'connected_gene': 'ENSG00000263050', 'score': 13.29}, {'connected_gene': 'TUSC5', 'score': 12.39}, {'connected_gene': 'BHLHA9', 'score': 12.36}, {'connected_gene': 'SMG6', 'score': 11.57}, {'connected_gene': 'SRR', 'score': 11.51}, {'connected_gene': 'YWHAE', 'score': 11.08}, {'connected_gene': 'INPP5K', 'score': 11.01}, {'connected_gene': 'MYO1C', 'score': 10.72}, {'connected_gene': 'HNRNPA1P16', 'score': 9.85}, {'connected_gene': 'SMYD4', 'score': 8.98}, {'connected_gene': 'RPA1', 'score': 8.98}, {'connected_gene': 'GC17P001337', 'score': 0.77}, {'connected_gene': 'GC17M001298', 'score': 0.37}]
chr17	GH17I001253	1253487	1254201	1.22	[{'connected_gene': 'ENSG00000262213', 'score': 550.77}, {'connected_gene': 'GC17M001250', 'score': 550.77}, {'connected_gene': 'TUSC5', 'score': 12.29}, {'connected_gene': 'ABR', 'score': 11.42}, {'connected_gene': 'ENSG00000235361', 'score': 11.27}, {'connected_gene': 'YWHAE', 'score': 10.57}, {'connected_gene': 'MYO1C', 'score': 10.37}, {'connected_gene': 'INPP5K', 'score': 10.37}, {'connected_gene': 'SLC43A2', 'score': 9.84}]
chr17	GH17I001385	1385802	1388399	0.84	[{'connected_gene': 'GC17P001386', 'score': 550.77}, {'connected_gene': 'CRK', 'score': 8.16}, {'connected_gene': 'PIR46041', 'score': 0.44}, {'connected_gene': 'YWHAE', 'score': 0.39}]
chr17	GH17I001573	1573858	1579102	1.34	[{'connected_gene': 'PIR53488', 'score': 550.77}, {'connected_gene': 'SLC43A2', 'score': 12.99}, {'connected_gene': 'SCARF1', 'score': 12.08}, {'connected_gene': 'RILP', 'score': 12.07}, {'connected_gene': 'YWHAE', 'score': 9.8}, {'connected_gene': 'RN7SL105P', 'score': 0.31}, {'connected_gene': 'GC17M001550', 'score': 0.13}]
chr17	GH17I001393	1393237	1394702	0.62	[{'connected_gene': 'PIR46041', 'score': 550.77}, {'connected_gene': 'PRPF8', 'score': 15.87}, {'connected_gene': 'WDR81', 'score': 13.99}, {'connected_gene': 'SMYD4', 'score': 12.67}, {'connected_gene': 'GEMIN4', 'score': 11.47}, {'connected_gene': 'DPH1', 'score': 11.43}, {'connected_gene': 'ENSG00000262228', 'score': 9.97}, {'connected_gene': 'CRK', 'score': 8.71}, {'connected_gene': 'GC17P001386', 'score': 0.44}, {'connected_gene': 'YWHAE', 'score': 0.44}]