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
ENST00000359470	[[207191865, 207196825], [207198231, 207198409], [207200838, 207201024], [207205923, 207206092]]	[[207195302, 207196825], [207198231, 207198409], [207200838, 207200943]]
ENST00000461135	[[207194039, 207196825], [207198231, 207198409], [207205923, 207206101]]	[[207195302, 207196370]]
NM_023938	[[207191865, 207196825], [207198231, 207198409], [207200838, 207201024], [207205923, 207206101]]	[[207195302, 207196825], [207198231, 207198409], [207200838, 207200943]]
NM_001083924	[[207191865, 207196825], [207198231, 207198409], [207205923, 207206101]]	[[207195302, 207196370]]

Promoter

Chrom	Start	End	Description
chr1	207205989	207206000	CAGE_peak_4_at_C1orf116_5end
chr1	207206001	207206012	CAGE_peak_5_at_C1orf116_5end
chr1	207206020	207206050	CAGE_peak_1_at_C1orf116_5end
chr1	207206059	207206084	CAGE_peak_3_at_C1orf116_5end
chr1	207206095	207206121	CAGE_peak_2_at_C1orf116_5end
chr1	207206173	207206178	CAGE_peak_7_at_C1orf116_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I206727	206727754	206731024	0.2	[{'connected_gene': 'MAPKAPK2', 'score': 16.74}, {'connected_gene': 'IL19', 'score': 11.85}, {'connected_gene': 'IL10', 'score': 11.17}, {'connected_gene': 'FCMR', 'score': 10.64}, {'connected_gene': 'PIGR', 'score': 10.63}, {'connected_gene': 'FCAMR', 'score': 10.61}, {'connected_gene': 'IL24', 'score': 10.43}, {'connected_gene': 'IL20', 'score': 10.27}, {'connected_gene': 'C1orf116', 'score': 9.57}, {'connected_gene': 'DYRK3', 'score': 7.63}, {'connected_gene': 'ENSG00000199349', 'score': 0.37}, {'connected_gene': 'GC01M206749', 'score': 0.37}, {'connected_gene': 'GC01P206699', 'score': 0.29}, {'connected_gene': 'PIR58159', 'score': 0.29}]
chr1	GH01I206851	206851795	206852111	0.47	[{'connected_gene': 'MAPKAPK2', 'score': 14.27}, {'connected_gene': 'IL19', 'score': 12.93}, {'connected_gene': 'IL24', 'score': 11.43}, {'connected_gene': 'FCAMR', 'score': 10.31}, {'connected_gene': 'PIGR', 'score': 10.27}, {'connected_gene': 'FCMR', 'score': 9.72}, {'connected_gene': 'C1orf116', 'score': 9.47}, {'connected_gene': 'RASSF5', 'score': 9.33}, {'connected_gene': 'CD55', 'score': 7.78}, {'connected_gene': 'IKBKE', 'score': 3.16}, {'connected_gene': 'DYRK3', 'score': 2.28}, {'connected_gene': 'LOC105372878', 'score': 0.44}, {'connected_gene': 'IL20', 'score': 0.39}]
chr1	GH01I206966	206966907	206974808	1.73	[{'connected_gene': 'FCAMR', 'score': 550.77}, {'connected_gene': 'PIGR', 'score': 12.5}, {'connected_gene': 'FCMR', 'score': 12.23}, {'connected_gene': 'IL20', 'score': 10.52}, {'connected_gene': 'IL24', 'score': 10.35}, {'connected_gene': 'IL10', 'score': 10.1}, {'connected_gene': 'IL19', 'score': 9.74}, {'connected_gene': 'MAPKAPK2', 'score': 9.74}, {'connected_gene': 'ENSG00000271680', 'score': 9.7}, {'connected_gene': 'C1orf116', 'score': 9.68}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.29}]
chr1	GH01I206992	206992268	206993565	0.66	[{'connected_gene': 'FCAMR', 'score': 11.25}, {'connected_gene': 'PIGR', 'score': 11.05}, {'connected_gene': 'IL20', 'score': 10.9}, {'connected_gene': 'C1orf116', 'score': 10.39}, {'connected_gene': 'C4BPA', 'score': 4.66}, {'connected_gene': 'ENSG00000271680', 'score': 4.64}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.39}]
chr1	GH01I207066	207066279	207068660	0.58	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.36}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 8.28}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207064	207064091	207065188	0.4	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.37}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 4.93}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207017	207017474	207035862	2.25	[{'connected_gene': 'C1orf116', 'score': 556.44}, {'connected_gene': 'EIF2D', 'score': 34.52}, {'connected_gene': 'C4BPA', 'score': 20.19}, {'connected_gene': 'CDCA4P4', 'score': 19.45}, {'connected_gene': 'C4BPB', 'score': 15.23}, {'connected_gene': 'FCAMR', 'score': 10.87}, {'connected_gene': 'PIGR', 'score': 10.84}, {'connected_gene': 'FCMR', 'score': 10.81}, {'connected_gene': 'RPL7AP20', 'score': 10.19}, {'connected_gene': 'IL20', 'score': 10.08}, {'connected_gene': 'CD46', 'score': 9.92}, {'connected_gene': 'PFKFB2', 'score': 9.31}, {'connected_gene': 'GC01P207018', 'score': 0.44}]
chr1	GH01I207962	207962096	207964992	1.42	[{'connected_gene': 'C1orf116', 'score': 4.95}, {'connected_gene': 'LOC105372883', 'score': 0.77}, {'connected_gene': 'GC01P207986', 'score': 0.34}]
chr1	GH01I206907	206907999	206910495	1.6	[{'connected_gene': 'RPL13AP8', 'score': 550.77}, {'connected_gene': 'ENSG00000271680', 'score': 14.89}, {'connected_gene': 'CDCA4P4', 'score': 12.53}, {'connected_gene': 'PIGR', 'score': 12.24}, {'connected_gene': 'IL20', 'score': 11.73}, {'connected_gene': 'FCAMR', 'score': 11.61}, {'connected_gene': 'EIF2D', 'score': 11.23}, {'connected_gene': 'IL19', 'score': 10.85}, {'connected_gene': 'MAPKAPK2', 'score': 10.42}, {'connected_gene': 'C1orf116', 'score': 9.48}, {'connected_gene': 'IKBKE', 'score': 5.28}, {'connected_gene': 'FCMR', 'score': 0.39}]
chr1	GH01I207070	207070401	207072137	0.4	[{'connected_gene': 'PFKFB2', 'score': 27.06}, {'connected_gene': 'C1orf116', 'score': 10.88}, {'connected_gene': 'FCAMR', 'score': 10.35}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'C4BPA', 'score': 10.23}, {'connected_gene': 'IL20', 'score': 9.83}, {'connected_gene': 'YOD1', 'score': 0.37}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1	GH01I207073	207073318	207074949	0.38	[{'connected_gene': 'PFKFB2', 'score': 27.99}, {'connected_gene': 'YOD1', 'score': 12.78}, {'connected_gene': 'C1orf116', 'score': 10.66}, {'connected_gene': 'C4BPB', 'score': 0.39}]
chr1	GH01I207048	207048086	207057800	2.51	[{'connected_gene': 'PFKFB2', 'score': 559.05}, {'connected_gene': 'YOD1', 'score': 550.77}, {'connected_gene': 'EIF2D', 'score': 22.36}, {'connected_gene': 'CDCA4P4', 'score': 20.35}, {'connected_gene': 'MAPKAPK2', 'score': 14.81}, {'connected_gene': 'C1orf116', 'score': 10.96}, {'connected_gene': 'CR1', 'score': 10.55}, {'connected_gene': 'CD46', 'score': 9.92}]
chr1	GH01I206914	206914440	206917084	0.59	[{'connected_gene': 'IL20', 'score': 11.44}, {'connected_gene': 'PIGR', 'score': 11.3}, {'connected_gene': 'FCAMR', 'score': 11.23}, {'connected_gene': 'ENSG00000271680', 'score': 11.23}, {'connected_gene': 'IL19', 'score': 10.83}, {'connected_gene': 'MAPKAPK2', 'score': 10.2}, {'connected_gene': 'C1orf116', 'score': 9.33}, {'connected_gene': 'RPL13AP8', 'score': 0.44}, {'connected_gene': 'FCMR', 'score': 0.44}]
chr1	GH01I206734	206734576	206734785	0.85	[{'connected_gene': 'IL19', 'score': 11.33}, {'connected_gene': 'IL10', 'score': 11.2}, {'connected_gene': 'MAPKAPK2', 'score': 10.78}, {'connected_gene': 'FCMR', 'score': 10.59}, {'connected_gene': 'PIGR', 'score': 10.58}, {'connected_gene': 'IL20', 'score': 10.27}, {'connected_gene': 'IL24', 'score': 10.1}, {'connected_gene': 'C1orf116', 'score': 9.57}, {'connected_gene': 'CD55', 'score': 4.54}, {'connected_gene': 'ENSG00000199349', 'score': 0.39}, {'connected_gene': 'GC01M206749', 'score': 0.39}, {'connected_gene': 'GC01P206699', 'score': 0.28}, {'connected_gene': 'PIR58159', 'score': 0.28}]
chr1	GH01I206857	206857228	206857452	0.33	[{'connected_gene': 'IL19', 'score': 18.4}, {'connected_gene': 'IL24', 'score': 11.46}, {'connected_gene': 'FCAMR', 'score': 10.32}, {'connected_gene': 'PIGR', 'score': 10.27}, {'connected_gene': 'FCMR', 'score': 9.73}, {'connected_gene': 'MAPKAPK2', 'score': 9.62}, {'connected_gene': 'C1orf116', 'score': 9.48}, {'connected_gene': 'RASSF5', 'score': 1.28}, {'connected_gene': 'IL20', 'score': 0.44}, {'connected_gene': 'LOC105372878', 'score': 0.39}]
chr1	GH01I207424	207424601	207425380	1.02	[{'connected_gene': 'CR2', 'score': 18.12}, {'connected_gene': 'CR1', 'score': 11.1}, {'connected_gene': 'C1orf116', 'score': 10.23}, {'connected_gene': 'C4BPA', 'score': 9.41}, {'connected_gene': 'LOC105372880', 'score': 0.44}]
chr1	GH01I207423	207423601	207424000	0.56	[{'connected_gene': 'CR2', 'score': 12.02}, {'connected_gene': 'CR1', 'score': 11.1}, {'connected_gene': 'C1orf116', 'score': 10.23}, {'connected_gene': 'C4BPA', 'score': 9.41}, {'connected_gene': 'LOC105372880', 'score': 0.44}]
chr1	GH01I207958	207958713	207960007	0.83	[{'connected_gene': 'LOC105372883', 'score': 550.77}, {'connected_gene': 'CD34', 'score': 12.6}, {'connected_gene': 'C1orf116', 'score': 4.66}, {'connected_gene': 'GC01P207986', 'score': 0.31}]