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
ENST00000333813	[[1182956, 1183682], [1198784, 1198917], [1201544, 1204281]]	[[1183295, 1183682], [1198784, 1198917], [1201544, 1201558]]

Promoter

Chrom	Start	End	Description
chr17	1182847	1182860	CAGE_peak_4_at_TUSC5_5end
chr17	1182890	1182916	CAGE_peak_2_at_TUSC5_5end
chr17	1182919	1182933	CAGE_peak_3_at_TUSC5_5end
chr17	1182948	1182967	CAGE_peak_1_at_TUSC5_5end
chr17	1183203	1183226	CAGE_peak_5_at_TUSC5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I001323	1323857	1324977	0.87	[{'connected_gene': 'GEMIN4', 'score': 13.79}, {'connected_gene': 'MYO1C', 'score': 13.4}, {'connected_gene': 'WDR81', 'score': 12.33}, {'connected_gene': 'PRPF8', 'score': 12.22}, {'connected_gene': 'RPA1', 'score': 12.11}, {'connected_gene': 'HIC1', 'score': 11.6}, {'connected_gene': 'SMYD4', 'score': 11.2}, {'connected_gene': 'TLCD2', 'score': 9.93}, {'connected_gene': 'CRK', 'score': 7.98}, {'connected_gene': 'TUSC5', 'score': 5.75}, {'connected_gene': 'GC17M001298', 'score': 0.44}, {'connected_gene': 'GC17P001337', '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	GH17I001102	1102789	1105220	0.38	[{'connected_gene': 'ABR', 'score': 23.54}, {'connected_gene': 'ENSG00000235361', 'score': 12.24}, {'connected_gene': 'BHLHA9', 'score': 11.0}, {'connected_gene': 'TUSC5', 'score': 10.99}, {'connected_gene': 'GLOD4', 'score': 9.51}, {'connected_gene': 'ENSG00000278794', 'score': 0.77}, {'connected_gene': 'LOC105371480', 'score': 0.25}]
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	GH17I001276	1276247	1276416	0.69	[{'connected_gene': 'TUSC5', 'score': 0.77}, {'connected_gene': 'BHLHA9', 'score': 0.44}]
chr17	GH17I001279	1279613	1279672	1.02	[{'connected_gene': 'TUSC5', 'score': 550.77}, {'connected_gene': 'BHLHA9', 'score': 0.44}]
chr17	GH17I001293	1293651	1293736	1.2	[{'connected_gene': 'PRPF8', 'score': 139.44}, {'connected_gene': 'SMYD4', 'score': 136.53}, {'connected_gene': 'RPA1', 'score': 93.22}, {'connected_gene': 'WDR81', 'score': 68.81}, {'connected_gene': 'GEMIN4', 'score': 65.69}, {'connected_gene': 'DPH1', 'score': 64.29}, {'connected_gene': 'ENSG00000263050', 'score': 47.62}, {'connected_gene': 'ENSG00000262228', 'score': 36.17}, {'connected_gene': 'MYO1C', 'score': 19.75}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'CRK', 'score': 18.61}, {'connected_gene': 'ENSG00000262434', 'score': 12.78}, {'connected_gene': 'DBIL5P', 'score': 11.06}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'ENSG00000262920', 'score': 9.91}, {'connected_gene': 'GC17P001285', 'score': 0.44}, {'connected_gene': 'TUSC5', 'score': 0.39}, {'connected_gene': 'GC17M001298', 'score': 0.34}]
chr17	GH17I001294	1293741	1294956	1.39	[{'connected_gene': 'PRPF8', 'score': 139.44}, {'connected_gene': 'SMYD4', 'score': 136.53}, {'connected_gene': 'RPA1', 'score': 93.22}, {'connected_gene': 'WDR81', 'score': 68.81}, {'connected_gene': 'GEMIN4', 'score': 65.69}, {'connected_gene': 'DPH1', 'score': 64.29}, {'connected_gene': 'ENSG00000263050', 'score': 47.62}, {'connected_gene': 'ENSG00000262228', 'score': 36.17}, {'connected_gene': 'CRK', 'score': 22.71}, {'connected_gene': 'MYO1C', 'score': 19.75}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'ENSG00000262434', 'score': 12.78}, {'connected_gene': 'DBIL5P', 'score': 11.06}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'ENSG00000262920', 'score': 9.91}, {'connected_gene': 'SERPINF2', 'score': 3.56}, {'connected_gene': 'BHLHA9', 'score': 1.58}, {'connected_gene': 'GC17P001285', 'score': 0.44}, {'connected_gene': 'TUSC5', 'score': 0.39}, {'connected_gene': 'GC17M001298', 'score': 0.34}]
chr17	GH17I001258	1258607	1260399	1.21	[{'connected_gene': 'PRPF8', 'score': 75.66}, {'connected_gene': 'SMYD4', 'score': 59.89}, {'connected_gene': 'WDR81', 'score': 54.89}, {'connected_gene': 'RPA1', 'score': 44.18}, {'connected_gene': 'GEMIN4', 'score': 39.42}, {'connected_gene': 'ENSG00000262228', 'score': 26.73}, {'connected_gene': 'DPH1', 'score': 21.35}, {'connected_gene': 'ENSG00000262920', 'score': 20.59}, {'connected_gene': 'MYO1C', 'score': 19.74}, {'connected_gene': 'HIC1', 'score': 19.25}, {'connected_gene': 'TUSC5', 'score': 12.56}, {'connected_gene': 'ABR', 'score': 10.91}, {'connected_gene': 'ENSG00000235361', 'score': 10.8}, {'connected_gene': 'ENSG00000263050', 'score': 10.66}, {'connected_gene': 'FAM57A', 'score': 10.55}, {'connected_gene': 'GC17M001262', 'score': 0.77}, {'connected_gene': 'ENSG00000262213', 'score': 0.44}]
chr17	GH17I001533	1533269	1534827	0.56	[{'connected_gene': 'PIR53156', 'score': 550.77}, {'connected_gene': 'PITPNA', 'score': 31.58}, {'connected_gene': 'TUSC5', 'score': 11.32}, {'connected_gene': 'BHLHA9', 'score': 11.32}, {'connected_gene': 'PIR60547', 'score': 0.39}, {'connected_gene': 'GC17M001526', 'score': 0.39}]
chr17	GH17I001101	1101916	1102707	0.2	[{'connected_gene': 'ENSG00000278794', 'score': 550.77}, {'connected_gene': 'ABR', 'score': 19.57}, {'connected_gene': 'ENSG00000235361', 'score': 12.24}, {'connected_gene': 'BHLHA9', 'score': 11.0}, {'connected_gene': 'TUSC5', 'score': 10.99}, {'connected_gene': 'LOC105371480', 'score': 0.23}]
chr17	GH17I001313	1313601	1313945	0.66	[{'connected_gene': 'GC17M001298', 'score': 550.77}, {'connected_gene': 'TUSC5', 'score': 14.76}, {'connected_gene': 'TLCD2', 'score': 1.63}, {'connected_gene': 'GC17P001285', 'score': 0.31}]
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	GH17I001298	1298727	1298916	0.58	[{'connected_gene': 'GC17P001285', 'score': 0.39}, {'connected_gene': 'GC17M001298', 'score': 0.37}, {'connected_gene': 'TUSC5', 'score': 0.37}]
chr17	GH17I001285	1285736	1287310	0.38	[{'connected_gene': 'GC17P001285', 'score': 550.77}, {'connected_gene': 'TUSC5', 'score': 6.35}, {'connected_gene': 'GC17M001298', 'score': 0.31}]