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
ENST00000380419	[[5435060, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446793]]	[[5435479, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446755]]
ENST00000479328	[[5435231, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446791]]	[[5435479, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446755]]
NM_024803	[[5435060, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446793]]	[[5435479, 5436424], [5437289, 5437438], [5442806, 5443050], [5446752, 5446755]]
NM_001171864	[[5435060, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446793]]	[[5435479, 5436424], [5437289, 5437438], [5442806, 5442930], [5446752, 5446755]]

Promoter

Chrom	Start	End	Description
chr10	5446786	5446795	CAGE_peak_1_at_TUBAL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I005283	5283338	5285454	1.35	[{'connected_gene': 'FBXO18', 'score': 15.1}, {'connected_gene': 'LOC105376384', 'score': 14.4}, {'connected_gene': 'FAM208B', 'score': 12.05}, {'connected_gene': 'ENSG00000226647', 'score': 12.03}, {'connected_gene': 'GDI2', 'score': 11.41}, {'connected_gene': 'LINC02561', 'score': 11.07}, {'connected_gene': 'TUBAL3', 'score': 8.24}, {'connected_gene': 'RBM17', 'score': 5.58}, {'connected_gene': 'AKR1C7P', 'score': 0.77}]
chr10	GH10I004825	4825549	4827596	1.92	[{'connected_gene': 'AKR1E2', 'score': 558.14}, {'connected_gene': 'UCN3', 'score': 10.29}, {'connected_gene': 'TUBAL3', 'score': 9.7}, {'connected_gene': 'AKR1C2', 'score': 8.64}, {'connected_gene': 'GC10P004844', 'score': 0.37}]
chr10	GH10I005459	5459510	5463862	1.29	[{'connected_gene': 'TUBAL3', 'score': 15.33}, {'connected_gene': 'FBXO18', 'score': 4.8}, {'connected_gene': 'CALML5', 'score': 0.28}, {'connected_gene': 'NET1', 'score': 0.25}]
chr10	GH10I005442	5442528	5444161	0.78	[{'connected_gene': 'TUBAL3', 'score': 12.95}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'NET1', 'score': 0.29}]
chr10	GH10I005433	5433829	5435147	0.86	[{'connected_gene': 'TUBAL3', 'score': 28.26}, {'connected_gene': 'UCN3', 'score': 10.13}, {'connected_gene': 'NET1', 'score': 0.34}, {'connected_gene': 'CALML5', 'score': 0.2}]
chr10	GH10I005402	5402425	5405416	1.3	[{'connected_gene': 'TUBAL3', 'score': 566.59}, {'connected_gene': 'UCN3', 'score': 5.14}]
chr10	GH10I005441	5441647	5442427	0.9	[{'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'CALML5', 'score': 10.44}, {'connected_gene': 'ENSG00000256462', 'score': 10.34}, {'connected_gene': 'CALML3', 'score': 10.34}, {'connected_gene': 'CALML3-AS1', 'score': 10.34}, {'connected_gene': 'UCN3', 'score': 9.96}, {'connected_gene': 'TUBAL3', 'score': 9.89}, {'connected_gene': 'NET1', 'score': 0.31}]
chr10	GH10I005411	5411938	5414122	1.97	[{'connected_gene': 'NET1', 'score': 550.77}, {'connected_gene': 'FAM208B', 'score': 20.51}, {'connected_gene': 'FBXO18', 'score': 16.19}, {'connected_gene': 'TUBAL3', 'score': 13.63}, {'connected_gene': 'LOC105376384', 'score': 12.55}, {'connected_gene': 'AKR1E2', 'score': 12.07}, {'connected_gene': 'ENSG00000226647', 'score': 11.99}, {'connected_gene': 'UCN3', 'score': 10.59}, {'connected_gene': 'CALML5', 'score': 4.82}]
chr10	GH10I005444	5444422	5451444	2.48	[{'connected_gene': 'NET1', 'score': 550.28}, {'connected_gene': 'LOC105376384', 'score': 25.59}, {'connected_gene': 'NRBF2P5', 'score': 19.97}, {'connected_gene': 'TUBAL3', 'score': 16.73}, {'connected_gene': 'GDI2', 'score': 14.11}, {'connected_gene': 'FBXO18', 'score': 13.74}, {'connected_gene': 'FAM208B', 'score': 11.89}, {'connected_gene': 'CALML5', 'score': 11.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.19}, {'connected_gene': 'CALML3', 'score': 11.19}, {'connected_gene': 'CALML3-AS1', 'score': 11.19}, {'connected_gene': 'ASB13', 'score': 10.68}, {'connected_gene': 'ENSG00000226647', 'score': 9.98}, {'connected_gene': 'UCN3', 'score': 9.95}]
chr10	GH10I005474	5474278	5475407	0.66	[{'connected_gene': 'CALML5', 'score': 11.66}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 11.3}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'NET1', 'score': 0.21}]
chr10	GH10I005472	5472418	5472567	1.12	[{'connected_gene': 'CALML5', 'score': 11.63}, {'connected_gene': 'ENSG00000256462', 'score': 11.42}, {'connected_gene': 'CALML3', 'score': 11.42}, {'connected_gene': 'CALML3-AS1', 'score': 11.42}, {'connected_gene': 'TUBAL3', 'score': 10.04}, {'connected_gene': 'NET1', 'score': 0.22}]
chr10	GH10I005476	5476273	5481393	1.15	[{'connected_gene': 'CALML5', 'score': 18.98}, {'connected_gene': 'CALML3-AS1', 'score': 17.94}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'ASB13', 'score': 10.41}, {'connected_gene': 'TUBAL3', 'score': 6.06}, {'connected_gene': 'NET1', 'score': 0.2}]
chr10	GH10I005385	5385278	5385447	0.2	[{'connected_gene': 'UCN3', 'score': 12.93}, {'connected_gene': 'TUBAL3', 'score': 0.37}]
chr10	GH10I005289	5289427	5298264	1.69	[{'connected_gene': 'LINC02561', 'score': 17.48}, {'connected_gene': 'TUBAL3', 'score': 16.61}, {'connected_gene': 'UCN3', 'score': 11.16}, {'connected_gene': 'ENSG00000239142', 'score': 11.05}, {'connected_gene': 'AKR1C3', 'score': 11.03}, {'connected_gene': 'AKR1E2', 'score': 4.94}, {'connected_gene': 'AKR1C7P', 'score': 0.44}, {'connected_gene': 'GC10M005304', 'score': 0.39}]
chr10	GH10I005611	5611958	5612207	0.72	[{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.03}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'CALML3-AS1', 'score': 11.03}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 5.44}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10	GH10I005608	5608971	5611604	1.27	[{'connected_gene': 'LOC105376383', 'score': 550.77}, {'connected_gene': 'ENSG00000256462', 'score': 11.04}, {'connected_gene': 'CALML3-AS1', 'score': 11.04}, {'connected_gene': 'CALML3', 'score': 11.03}, {'connected_gene': 'LOC102723629', 'score': 11.02}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.2}, {'connected_gene': 'ASB13', 'score': 6.13}, {'connected_gene': 'LOC105376382', 'score': 6.03}]
chr10	GH10I005613	5613479	5616207	1.11	[{'connected_gene': 'LOC102723629', 'score': 12.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.44}, {'connected_gene': 'CALML3-AS1', 'score': 11.44}, {'connected_gene': 'CALML3', 'score': 11.43}, {'connected_gene': 'CALML5', 'score': 11.01}, {'connected_gene': 'TUBAL3', 'score': 10.51}, {'connected_gene': 'ASB13', 'score': 10.37}, {'connected_gene': 'NET1', 'score': 6.29}, {'connected_gene': 'LOC105376383', 'score': 0.77}, {'connected_gene': 'ENSG00000228685', 'score': 0.39}]
chr10	GH10I005486	5486036	5490531	1.12	[{'connected_gene': 'CALML3-AS1', 'score': 17.42}, {'connected_gene': 'ENSG00000256462', 'score': 11.46}, {'connected_gene': 'CALML3', 'score': 11.46}, {'connected_gene': 'CALML5', 'score': 9.45}, {'connected_gene': 'TUBAL3', 'score': 9.28}, {'connected_gene': 'UCN3', 'score': 9.14}, {'connected_gene': 'NET1', 'score': 0.18}]
chr10	GH10I005464	5464248	5469492	1.3	[{'connected_gene': 'CALML3-AS1', 'score': 16.35}, {'connected_gene': 'TUBAL3', 'score': 12.16}, {'connected_gene': 'CALML5', 'score': 11.62}, {'connected_gene': 'ENSG00000256462', 'score': 11.41}, {'connected_gene': 'CALML3', 'score': 11.41}, {'connected_gene': 'NET1', 'score': 0.23}]
chr10	GH10I005195	5195508	5197578	1.3	[{'connected_gene': 'GC10M005190', 'score': 550.77}, {'connected_gene': 'AKR1C4', 'score': 550.77}, {'connected_gene': 'TUBAL3', 'score': 5.91}, {'connected_gene': 'RBM17', 'score': 5.86}, {'connected_gene': 'AKR1C3', 'score': 4.72}, {'connected_gene': 'ARL4AP3', 'score': 0.39}]
chr10	GH10I005604	5604725	5605816	0.38	[{'connected_gene': 'ENSG00000256462', 'score': 11.05}, {'connected_gene': 'CALML3-AS1', 'score': 11.05}, {'connected_gene': 'CALML3', 'score': 11.04}, {'connected_gene': 'TUBAL3', 'score': 10.52}, {'connected_gene': 'CALML5', 'score': 10.21}, {'connected_gene': 'LOC102723629', 'score': 7.62}, {'connected_gene': 'NET1', 'score': 5.88}, {'connected_gene': 'LOC105376383', 'score': 0.44}, {'connected_gene': 'LOC105376382', 'score': 0.44}]