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
ENST00000379959	[[6052651, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063440, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104288]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063440, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]
ENST00000379954	[[6054033, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6066206, 6066317], [6067796, 6067988], [6104050, 6104272]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]
ENST00000256876	[[6054759, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063467, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104253]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063467, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]
ENST00000447847	[[6061415, 6061462], [6066206, 6066317], [6067796, 6067964]]	[[6061415, 6061462], [6066206, 6066317], [6067796, 6067964]]
NM_000417	[[6052656, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063440, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104333]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6063440, 6063656], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]
NM_001308242	[[6052656, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6066206, 6066317], [6067796, 6067988], [6104050, 6104333]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6061832, 6061904], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]
NM_001308243	[[6052656, 6054859], [6060015, 6060082], [6061390, 6061462], [6066206, 6066317], [6067796, 6067988], [6104050, 6104333]]	[[6054834, 6054859], [6060015, 6060082], [6061390, 6061462], [6066206, 6066317], [6067796, 6067988], [6104050, 6104114]]

Promoter

Chrom	Start	End	Description
chr10	6104262	6104278	CAGE_peak_1_at_IL2RA_5end
chr10	6104323	6104339	CAGE_peak_2_at_IL2RA_5end
chr10	6104459	6104475	CAGE_peak_3_at_IL2RA_5end
chr10	6104480	6104485	CAGE_peak_5_at_IL2RA_5end
chr10	6104492	6104499	CAGE_peak_4_at_IL2RA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I006068	6068002	6073447	1.32	[{'connected_gene': 'RPL32P23', 'score': 550.77}, {'connected_gene': 'IL2RA', 'score': 7.54}, {'connected_gene': 'PFKFB3', 'score': 4.59}, {'connected_gene': 'IL15RA', 'score': 2.45}, {'connected_gene': 'GDI2', 'score': 2.33}, {'connected_gene': 'RBM17', 'score': 2.04}, {'connected_gene': 'GC10P006063', 'score': 0.44}]
chr10	GH10I006057	6057278	6057545	0.78	[{'connected_gene': 'PFKFB3', 'score': 13.51}, {'connected_gene': 'IL15RA', 'score': 5.49}, {'connected_gene': 'RBM17', 'score': 2.38}, {'connected_gene': 'IL2RA', 'score': 0.77}, {'connected_gene': 'GC10M006044', 'score': 0.39}, {'connected_gene': 'GC10M006043', 'score': 0.39}]
chr10	GH10I006033	6033813	6034400	1.32	[{'connected_gene': 'PFKFB3', 'score': 28.98}, {'connected_gene': 'IL15RA', 'score': 15.77}, {'connected_gene': 'LOC105376384', 'score': 10.94}, {'connected_gene': 'FBXO18', 'score': 10.88}, {'connected_gene': 'RBM17', 'score': 1.99}, {'connected_gene': 'ENSG00000229664', 'score': 0.44}, {'connected_gene': 'GC10M006044', 'score': 0.39}, {'connected_gene': 'GC10M006043', 'score': 0.39}, {'connected_gene': 'IL2RA', 'score': 0.31}]
chr10	GH10I006034	6034413	6034746	0.88	[{'connected_gene': 'PFKFB3', 'score': 17.25}, {'connected_gene': 'IL15RA', 'score': 13.98}, {'connected_gene': 'LOC105376384', 'score': 10.94}, {'connected_gene': 'FBXO18', 'score': 10.88}, {'connected_gene': 'IL2RA', 'score': 10.49}, {'connected_gene': 'RBM17', 'score': 3.47}, {'connected_gene': 'ENSG00000229664', 'score': 0.44}, {'connected_gene': 'GC10M006044', 'score': 0.44}, {'connected_gene': 'GC10M006043', 'score': 0.44}]
chr10	GH10I006032	6032823	6033025	0.34	[{'connected_gene': 'PFKFB3', 'score': 16.28}, {'connected_gene': 'IL15RA', 'score': 13.49}, {'connected_gene': 'LOC105376384', 'score': 10.94}, {'connected_gene': 'FBXO18', 'score': 10.88}, {'connected_gene': 'IL2RA', 'score': 3.0}, {'connected_gene': 'RBM17', 'score': 2.27}, {'connected_gene': 'ENSG00000229664', 'score': 0.44}, {'connected_gene': 'GC10M006044', 'score': 0.39}, {'connected_gene': 'GC10M006043', 'score': 0.39}]
chr10	GH10I006014	6014096	6015122	1.02	[{'connected_gene': 'PFKFB3', 'score': 3.99}, {'connected_gene': 'IL2RA', 'score': 3.05}, {'connected_gene': 'RBM17', 'score': 2.77}, {'connected_gene': 'IL15RA', 'score': 2.48}, {'connected_gene': 'GC10P006011', 'score': 0.77}, {'connected_gene': 'GC10M006017', 'score': 0.77}, {'connected_gene': 'ENSG00000251922', 'score': 0.77}]
chr10	GH10I006058	6058805	6059062	0.94	[{'connected_gene': 'PFKFB3', 'score': 12.27}, {'connected_gene': 'IL2RA', 'score': 5.15}, {'connected_gene': 'IL15RA', 'score': 4.86}, {'connected_gene': 'RBM17', 'score': 3.57}, {'connected_gene': 'GC10M006044', 'score': 0.39}, {'connected_gene': 'GC10M006043', 'score': 0.39}]
chr10	GH10I006049	6049278	6054845	1.66	[{'connected_gene': 'PFKFB3', 'score': 16.34}, {'connected_gene': 'IL2RA', 'score': 8.51}, {'connected_gene': 'IL15RA', 'score': 4.63}, {'connected_gene': 'RBM17', 'score': 2.58}, {'connected_gene': 'GC10M006044', 'score': 0.44}, {'connected_gene': 'GC10M006043', 'score': 0.44}]
chr10	GH10I006036	6036895	6039018	1	[{'connected_gene': 'IL15RA', 'score': 16.46}, {'connected_gene': 'PFKFB3', 'score': 12.4}, {'connected_gene': 'LOC105376384', 'score': 10.93}, {'connected_gene': 'FBXO18', 'score': 10.88}, {'connected_gene': 'IL2RA', 'score': 2.47}, {'connected_gene': 'RBM17', 'score': 1.9}, {'connected_gene': 'GC10M006044', 'score': 0.44}, {'connected_gene': 'GC10M006043', 'score': 0.44}, {'connected_gene': 'ENSG00000229664', 'score': 0.39}]
chr10	GH10I005941	5941160	5947488	1.55	[{'connected_gene': 'IL15RA', 'score': 20.68}, {'connected_gene': 'LOC105376384', 'score': 11.61}, {'connected_gene': 'IL2RA', 'score': 11.11}, {'connected_gene': 'GDI2', 'score': 9.69}, {'connected_gene': 'PFKFB3', 'score': 8.98}, {'connected_gene': 'ANKRD16', 'score': 4.88}, {'connected_gene': 'CALML3-AS1', 'score': 4.54}, {'connected_gene': 'PIR38458', 'score': 0.26}]
chr10	GH10I006074	6074843	6075132	0.74	[{'connected_gene': 'IL2RA', 'score': 20.94}, {'connected_gene': 'RBM17', 'score': 4.1}, {'connected_gene': 'RPL32P23', 'score': 0.77}]
chr10	GH10I006086	6086018	6087221	1.6	[{'connected_gene': 'IL2RA', 'score': 31.65}, {'connected_gene': 'ANKRD16', 'score': 10.53}, {'connected_gene': 'LOC105376384', 'score': 10.31}, {'connected_gene': 'FBXO18', 'score': 10.28}, {'connected_gene': 'CALML3-AS1', 'score': 5.78}, {'connected_gene': 'RBM17', 'score': 4.85}, {'connected_gene': 'PFKFB3', 'score': 2.31}, {'connected_gene': 'IL15RA', 'score': 2.13}, {'connected_gene': 'RPL32P23', 'score': 0.39}]
chr10	GH10I006048	6048309	6048847	0.48	[{'connected_gene': 'IL2RA', 'score': 7.11}, {'connected_gene': 'PFKFB3', 'score': 3.16}, {'connected_gene': 'RBM17', 'score': 2.07}, {'connected_gene': 'IL15RA', 'score': 1.31}, {'connected_gene': 'GC10M006044', 'score': 0.77}, {'connected_gene': 'GC10M006043', 'score': 0.77}]
chr10	GH10I006062	6060720	6060946	0.75	[{'connected_gene': 'IL2RA', 'score': 559.32}, {'connected_gene': 'PFKFB3', 'score': 7.19}, {'connected_gene': 'IL15RA', 'score': 4.07}, {'connected_gene': 'RBM17', 'score': 3.64}, {'connected_gene': 'GDI2', 'score': 1.4}, {'connected_gene': 'GC10M006044', 'score': 0.37}, {'connected_gene': 'GC10M006043', 'score': 0.37}]
chr10	GH10I006083	6083787	6084110	0.68	[{'connected_gene': 'IL2RA', 'score': 29.53}, {'connected_gene': 'PFKFB3', 'score': 10.61}, {'connected_gene': 'IL15RA', 'score': 10.46}, {'connected_gene': 'LOC105376384', 'score': 10.03}, {'connected_gene': 'FBXO18', 'score': 10.0}, {'connected_gene': 'RBM17', 'score': 4.03}, {'connected_gene': 'RPL32P23', 'score': 0.39}]
chr10	GH10I006063	6060998	6061147	0.63	[{'connected_gene': 'IL2RA', 'score': 550.77}, {'connected_gene': 'GC10M006044', 'score': 0.37}, {'connected_gene': 'GC10M006043', 'score': 0.37}]
chr10	GH10I006060	6060401	6060600	0.4	[{'connected_gene': 'IL2RA', 'score': 550.77}, {'connected_gene': 'GC10M006044', 'score': 0.37}, {'connected_gene': 'GC10M006043', 'score': 0.37}]
chr10	GH10I005950	5950142	5952291	1.17	[{'connected_gene': 'LOC105376384', 'score': 21.0}, {'connected_gene': 'IL15RA', 'score': 18.13}, {'connected_gene': 'FBXO18', 'score': 14.36}, {'connected_gene': 'FAM208B', 'score': 13.16}, {'connected_gene': 'IL2RA', 'score': 11.11}, {'connected_gene': 'ENSG00000226647', 'score': 10.83}, {'connected_gene': 'PFKFB3', 'score': 9.76}, {'connected_gene': 'GDI2', 'score': 9.69}, {'connected_gene': 'GC10P005977', 'score': 0.31}]
chr10	GH10I005949	5949400	5949801	0.83	[{'connected_gene': 'LOC105376384', 'score': 12.17}, {'connected_gene': 'IL15RA', 'score': 12.06}, {'connected_gene': 'IL2RA', 'score': 11.11}, {'connected_gene': 'GDI2', 'score': 9.69}, {'connected_gene': 'PFKFB3', 'score': 8.98}, {'connected_gene': 'GC10P005977', 'score': 0.31}]
chr10	GH10I006018	6018055	6019307	0.82	[{'connected_gene': 'ENSG00000251922', 'score': 550.77}, {'connected_gene': 'GC10M006017', 'score': 550.77}, {'connected_gene': 'FAM208B', 'score': 53.99}, {'connected_gene': 'LOC105376384', 'score': 39.53}, {'connected_gene': 'FBXO18', 'score': 39.5}, {'connected_gene': 'ENSG00000226647', 'score': 22.02}, {'connected_gene': 'NRBF2P5', 'score': 18.96}, {'connected_gene': 'ANKRD16', 'score': 15.12}, {'connected_gene': 'RBM17', 'score': 11.82}, {'connected_gene': 'ENSG00000229664', 'score': 0.44}, {'connected_gene': 'IL2RA', 'score': 0.26}]
chr10	GH10I006044	6044937	6045998	1.32	[{'connected_gene': 'GC10M006044', 'score': 550.77}, {'connected_gene': 'GC10M006043', 'score': 550.77}, {'connected_gene': 'PFKFB3', 'score': 11.93}, {'connected_gene': 'IL15RA', 'score': 3.53}, {'connected_gene': 'RBM17', 'score': 2.32}, {'connected_gene': 'IL2RA', 'score': 2.0}]
chr10	GH10I006061	6061778	6062835	1.33	[{'connected_gene': 'GC10P006063', 'score': 550.77}, {'connected_gene': 'IL2RA', 'score': 550.77}, {'connected_gene': 'GC10M006044', 'score': 0.37}, {'connected_gene': 'GC10M006043', 'score': 0.37}]