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
ENST00000370630	[[85015288, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85035613, 85035822], [85036264, 85036403], [85039921, 85040147]]	[[85020681, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85035613, 85035822], [85036264, 85036403], [85039921, 85040098]]
ENST00000477677	[[85018803, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85036264, 85036403], [85039921, 85040163]]	None
ENST00000465118	[[85020220, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85036264, 85036403], [85039598, 85040113]]	[[85039864, 85040098]]
ENST00000370625	[[85020535, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85035613, 85035822], [85036264, 85036403], [85039598, 85040104]]	[[85039864, 85040098]]
NM_004388	[[85018803, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85035613, 85035822], [85036264, 85036403], [85039921, 85040163]]	[[85020681, 85020882], [85028939, 85029101], [85029417, 85029515], [85031523, 85031695], [85035613, 85035822], [85036264, 85036403], [85039921, 85040098]]

Promoter

Chrom	Start	End	Description
chr1	85039648	85039685	CAGE_peak_2_at_CTBS_5end
chr1	85040090	85040168	CAGE_peak_1_at_CTBS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I084478	84478658	84480957	2.06	[{'connected_gene': 'RPF1', 'score': 557.47}, {'connected_gene': 'ENSG00000271576', 'score': 24.23}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'GNG5', 'score': 8.35}, {'connected_gene': 'CTBS', 'score': 6.56}, {'connected_gene': 'SPATA1', 'score': 0.31}]
chr1	GH01I084090	84090383	84091400	0.88	[{'connected_gene': 'TTLL7', 'score': 14.89}, {'connected_gene': 'CTBS', 'score': 9.73}, {'connected_gene': 'GC01P084086', 'score': 0.44}, {'connected_gene': 'PRKACB', 'score': 0.39}, {'connected_gene': 'LOC100128775', 'score': 0.1}]
chr1	GH01I084089	84089518	84089707	0.76	[{'connected_gene': 'TTLL7', 'score': 10.81}, {'connected_gene': 'SAMD13', 'score': 9.95}, {'connected_gene': 'CTBS', 'score': 9.73}, {'connected_gene': 'GC01P084086', 'score': 0.77}, {'connected_gene': 'PRKACB', 'score': 0.39}, {'connected_gene': 'LOC100128775', 'score': 0.1}]
chr1	GH01I084630	84630554	84636439	1.25	[{'connected_gene': 'LINC01555', 'score': 550.77}, {'connected_gene': 'SPATA1', 'score': 16.43}, {'connected_gene': 'GNG5', 'score': 10.81}, {'connected_gene': 'RPF1', 'score': 10.26}, {'connected_gene': 'CTBS', 'score': 4.39}, {'connected_gene': 'ENSG00000232622', 'score': 0.77}, {'connected_gene': 'LINC01461', 'score': 0.39}]
chr1	GH01I084697	84697077	84700507	1.22	[{'connected_gene': 'LPAR3', 'score': 9.97}, {'connected_gene': 'RPF1', 'score': 9.95}, {'connected_gene': 'SSX2IP', 'score': 6.2}, {'connected_gene': 'LINC01555', 'score': 5.63}, {'connected_gene': 'CTBS', 'score': 4.18}, {'connected_gene': 'GC01P084746', 'score': 0.25}]
chr1	GH01I084711	84711051	84713157	0.69	[{'connected_gene': 'LPAR3', 'score': 9.67}, {'connected_gene': 'LINC01555', 'score': 5.85}, {'connected_gene': 'CTBS', 'score': 4.38}, {'connected_gene': 'SSX2IP', 'score': 0.34}, {'connected_gene': 'GC01P084746', 'score': 0.29}]
chr1	GH01I084708	84708411	84710616	0.43	[{'connected_gene': 'LPAR3', 'score': 9.67}, {'connected_gene': 'SSX2IP', 'score': 7.5}, {'connected_gene': 'LINC01555', 'score': 5.76}, {'connected_gene': 'CTBS', 'score': 4.14}, {'connected_gene': 'GC01P084746', 'score': 0.28}]
chr1	GH01I084601	84601895	84605402	1.11	[{'connected_gene': 'CTBS', 'score': 20.83}, {'connected_gene': 'SPATA1', 'score': 12.29}, {'connected_gene': 'RPF1', 'score': 10.45}, {'connected_gene': 'LINC01461', 'score': 0.37}, {'connected_gene': 'GC01M084581', 'score': 0.34}]
chr1	GH01I084572	84572467	84575310	2.34	[{'connected_gene': 'CTBS', 'score': 563.59}, {'connected_gene': 'SPATA1', 'score': 9.88}, {'connected_gene': 'GNG5', 'score': 7.62}, {'connected_gene': 'MCOLN2', 'score': 1.97}, {'connected_gene': 'PIR44908', 'score': 0.44}, {'connected_gene': 'GC01P084567', 'score': 0.44}]
chr1	GH01I084686	84686648	84693803	2.47	[{'connected_gene': 'SSX2IP', 'score': 556.54}, {'connected_gene': 'ENSG00000271576', 'score': 10.99}, {'connected_gene': 'LINC01555', 'score': 5.64}, {'connected_gene': 'CTBS', 'score': 4.18}, {'connected_gene': 'ENSG00000232622', 'score': 0.23}]
chr1	GH01I084618	84618725	84621647	1.46	[{'connected_gene': 'LINC01461', 'score': 550.77}, {'connected_gene': 'ENSG00000271576', 'score': 49.82}, {'connected_gene': 'SPATA1', 'score': 27.01}, {'connected_gene': 'CTBS', 'score': 17.51}, {'connected_gene': 'GNG5', 'score': 15.46}, {'connected_gene': 'C1orf52', 'score': 13.4}, {'connected_gene': 'RPF1', 'score': 10.88}, {'connected_gene': 'SAMD13', 'score': 9.92}, {'connected_gene': 'MCOLN3', 'score': 4.68}, {'connected_gene': 'GC01M084581', 'score': 0.28}]
chr1	GH01I083818	83818225	83820112	1.13	[{'connected_gene': 'LINC01725', 'score': 8.4}, {'connected_gene': 'CTBS', 'score': 4.85}, {'connected_gene': 'ENSG00000237076', 'score': 0.31}, {'connected_gene': 'LOC101927560', 'score': 0.26}]
chr1	GH01I084503	84503668	84507994	2.4	[{'connected_gene': 'SPATA1', 'score': 570.35}, {'connected_gene': 'GNG5', 'score': 562.87}, {'connected_gene': 'BCL10', 'score': 11.45}, {'connected_gene': 'CTBS', 'score': 8.57}, {'connected_gene': 'RPF1', 'score': 6.15}, {'connected_gene': 'MCOLN2', 'score': 1.44}]
chr1	GH01I084597	84597996	84600981	0.97	[{'connected_gene': 'SPATA1', 'score': 23.92}, {'connected_gene': 'GNG5', 'score': 11.77}, {'connected_gene': 'RPF1', 'score': 10.23}, {'connected_gene': 'CTBS', 'score': 9.12}, {'connected_gene': 'GC01M084581', 'score': 0.37}, {'connected_gene': 'LINC01461', 'score': 0.34}]
chr1	GH01I084568	84568639	84568806	0.22	[{'connected_gene': 'SPATA1', 'score': 10.94}, {'connected_gene': 'GNG5', 'score': 10.94}, {'connected_gene': 'CTBS', 'score': 5.5}, {'connected_gene': 'PIR44908', 'score': 0.77}, {'connected_gene': 'GC01P084567', 'score': 0.77}]
chr1	GH01I084611	84611601	84612200	0.4	[{'connected_gene': 'SPATA1', 'score': 16.59}, {'connected_gene': 'CTBS', 'score': 16.35}, {'connected_gene': 'RPF1', 'score': 10.89}, {'connected_gene': 'GNG5', 'score': 10.86}, {'connected_gene': 'LINC01461', 'score': 0.44}, {'connected_gene': 'GC01M084581', 'score': 0.31}]
chr1	GH01I084571	84571802	84572200	0.38	[{'connected_gene': 'SPATA1', 'score': 10.01}, {'connected_gene': 'CTBS', 'score': 0.77}, {'connected_gene': 'PIR44908', 'score': 0.44}, {'connected_gene': 'GC01P084567', 'score': 0.44}]
chr1	GH01I084582	84582858	84584203	1.06	[{'connected_gene': 'GC01P084581', 'score': 550.77}, {'connected_gene': 'GC01M084581', 'score': 550.77}, {'connected_gene': 'RPF1', 'score': 10.75}, {'connected_gene': 'CTBS', 'score': 8.38}, {'connected_gene': 'SPATA1', 'score': 6.52}, {'connected_gene': 'LOC105378819', 'score': 0.44}, {'connected_gene': 'LINC01461', 'score': 0.28}]