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
ENST00000389017	[[8091651, 8093564]]	[[8092384, 8093458]]
NM_017622	[[8091650, 8093564]]	[[8092384, 8093458]]

Promoter

Chrom	Start	End	Description
chr17	8093384	8093395	CAGE_peak_5_at_C17orf59_5end
chr17	8093455	8093468	CAGE_peak_4_at_C17orf59_5end
chr17	8093471	8093506	CAGE_peak_1_at_C17orf59_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I008117	8117442	8125092	2.33	[{'connected_gene': 'HES7', 'score': 571.1}, {'connected_gene': 'ALOXE3', 'score': 555.55}, {'connected_gene': 'TRL-TAG1-1', 'score': 550.77}, {'connected_gene': 'GC17M008514', 'score': 550.77}, {'connected_gene': 'TRQ-CTG1-5', 'score': 550.77}, {'connected_gene': 'TRR-TCT2-1', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 67.33}, {'connected_gene': 'SENP3', 'score': 48.75}, {'connected_gene': 'NLGN2', 'score': 28.37}, {'connected_gene': 'DVL2', 'score': 27.41}, {'connected_gene': 'CTC1', 'score': 24.5}, {'connected_gene': 'PFAS', 'score': 22.52}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'CYB5D1', 'score': 20.75}, {'connected_gene': 'ZBTB4', 'score': 20.19}, {'connected_gene': 'SNORD10', 'score': 16.69}, {'connected_gene': 'ATP1B2', 'score': 14.27}, {'connected_gene': 'SNORA48', 'score': 13.66}, {'connected_gene': 'VAMP2', 'score': 13.36}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'MIR324', 'score': 12.42}, {'connected_gene': 'SNORD118', 'score': 11.72}, {'connected_gene': 'TMEM107', 'score': 11.71}, {'connected_gene': 'BORCS6', 'score': 11.48}, {'connected_gene': 'PLSCR3', 'score': 11.23}, {'connected_gene': 'CNTROB', 'score': 11.2}, {'connected_gene': 'ENSG00000269947', 'score': 11.14}, {'connected_gene': 'KDM6B', 'score': 11.08}, {'connected_gene': 'WRAP53', 'score': 10.68}, {'connected_gene': 'KCNAB3', 'score': 10.63}, {'connected_gene': 'PER1', 'score': 10.53}, {'connected_gene': 'EIF4A1', 'score': 10.14}, {'connected_gene': 'SPEM2', 'score': 6.9}, {'connected_gene': 'TRK-TTT3-5', 'score': 0.77}]
chr17	GH17I008126	8125555	8127624	1.74	[{'connected_gene': 'HES7', 'score': 570.02}, {'connected_gene': 'PIR51497', 'score': 550.77}, {'connected_gene': 'LOC105376799', 'score': 550.77}, {'connected_gene': 'TRG-GCC2-6', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 36.83}, {'connected_gene': 'SENP3', 'score': 29.82}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'DVL2', 'score': 13.45}, {'connected_gene': 'SNORD118', 'score': 12.44}, {'connected_gene': 'TMEM107', 'score': 12.44}, {'connected_gene': 'CYB5D1', 'score': 11.88}, {'connected_gene': 'PFAS', 'score': 11.36}, {'connected_gene': 'ENSG00000269947', 'score': 11.14}, {'connected_gene': 'BORCS6', 'score': 11.13}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'KCNAB3', 'score': 10.63}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'ALOX15B', 'score': 9.91}]
chr17	GH17I008412	8412163	8413800	1.26	[{'connected_gene': 'NDEL1', 'score': 560.17}, {'connected_gene': 'WRAP53', 'score': 11.56}, {'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'ZBTB4', 'score': 10.82}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'PIK3R6', 'score': 9.14}, {'connected_gene': 'CNTROB', 'score': 4.16}, {'connected_gene': 'PER1', 'score': 2.99}, {'connected_gene': 'BORCS6', 'score': 2.35}, {'connected_gene': 'RNF222', 'score': 0.37}]
chr17	GH17I008133	8133282	8134003	0.56	[{'connected_gene': 'SNORD118', 'score': 12.47}, {'connected_gene': 'TMEM107', 'score': 12.46}, {'connected_gene': 'BORCS6', 'score': 11.15}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'AURKB', 'score': 10.52}, {'connected_gene': 'PFAS', 'score': 10.4}, {'connected_gene': 'CTC1', 'score': 10.37}, {'connected_gene': 'ALOX15B', 'score': 10.16}, {'connected_gene': 'ENSG00000226871', 'score': 4.58}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.44}, {'connected_gene': 'LOC105376799', 'score': 0.44}, {'connected_gene': 'GC17M008512', 'score': 0.44}]
chr17	GH17I008417	8417044	8419253	1.35	[{'connected_gene': 'RNF222', 'score': 12.2}, {'connected_gene': 'SPDYE4', 'score': 10.65}, {'connected_gene': 'RNU7-43P', 'score': 10.52}, {'connected_gene': 'MYH10', 'score': 10.44}, {'connected_gene': 'NDEL1', 'score': 9.83}, {'connected_gene': 'PIK3R5', 'score': 4.74}, {'connected_gene': 'PER1', 'score': 4.48}, {'connected_gene': 'CTC1', 'score': 2.1}, {'connected_gene': 'VAMP2', 'score': 1.91}, {'connected_gene': 'BORCS6', 'score': 1.75}, {'connected_gene': 'GC17P008467', 'score': 0.25}]
chr17	GH17I008105	8105862	8106966	0.66	[{'connected_gene': 'ALOXE3', 'score': 33.39}, {'connected_gene': 'LOC107985075', 'score': 13.64}, {'connected_gene': 'ALOX15B', 'score': 11.03}, {'connected_gene': 'SNORD118', 'score': 10.65}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'KCNAB3', 'score': 10.21}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'BORCS6', 'score': 5.68}, {'connected_gene': 'MIR4314', 'score': 0.37}]
chr17	GH17I008191	8191620	8193145	1.81	[{'connected_gene': 'BORCS6', 'score': 550.77}, {'connected_gene': 'LINC00324', 'score': 12.51}, {'connected_gene': 'VAMP2', 'score': 3.23}, {'connected_gene': 'KCNAB3', 'score': 3.02}, {'connected_gene': 'KDM6B', 'score': 1.81}, {'connected_gene': 'CTC1', 'score': 1.71}, {'connected_gene': 'ENSG00000271002', 'score': 0.44}]
chr17	GH17I008149	8149325	8165312	2.67	[{'connected_gene': 'PER1', 'score': 578.58}, {'connected_gene': 'VAMP2', 'score': 560.18}, {'connected_gene': 'ENSG00000265749', 'score': 32.6}, {'connected_gene': 'CYB5D1', 'score': 32.26}, {'connected_gene': 'CTC1', 'score': 32.21}, {'connected_gene': 'DVL2', 'score': 32.1}, {'connected_gene': 'PFAS', 'score': 23.95}, {'connected_gene': 'CNTROB', 'score': 22.97}, {'connected_gene': 'SENP3', 'score': 20.89}, {'connected_gene': 'POLR2A', 'score': 20.3}, {'connected_gene': 'WRAP53', 'score': 20.15}, {'connected_gene': 'TP53', 'score': 19.2}, {'connected_gene': 'NDEL1', 'score': 16.83}, {'connected_gene': 'GPS2', 'score': 15.79}, {'connected_gene': 'SNORD10', 'score': 14.17}, {'connected_gene': 'SNORA48', 'score': 13.32}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'EIF4A1', 'score': 12.0}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'PLSCR3', 'score': 10.82}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'SLC25A35', 'score': 10.54}, {'connected_gene': 'SCARNA21', 'score': 10.13}, {'connected_gene': 'RANGRF', 'score': 10.0}, {'connected_gene': 'LOC100996842', 'score': 9.9}, {'connected_gene': 'RPL26', 'score': 9.74}, {'connected_gene': 'KDM6B', 'score': 9.07}, {'connected_gene': 'BORCS6', 'score': 2.55}, {'connected_gene': 'ENSG00000263620', 'score': 0.44}]
chr17	GH17I008726	8726583	8727713	0.2	[{'connected_gene': 'MYH10', 'score': 11.79}, {'connected_gene': 'SPDYE4', 'score': 11.14}, {'connected_gene': 'CCDC42', 'score': 10.78}, {'connected_gene': 'BORCS6', 'score': 4.96}, {'connected_gene': 'PIR61588', 'score': 0.39}, {'connected_gene': 'LOC105371529', 'score': 0.37}]
chr17	GH17I008195	8195663	8196758	1.05	[{'connected_gene': 'LINC00324', 'score': 12.53}, {'connected_gene': 'SNORD118', 'score': 11.66}, {'connected_gene': 'VAMP2', 'score': 9.04}, {'connected_gene': 'ENSG00000271002', 'score': 0.77}, {'connected_gene': 'BORCS6', 'score': 0.44}]
chr17	GH17I007850	7850578	7852872	1.32	[{'connected_gene': 'SENP3', 'score': 10.61}, {'connected_gene': 'CHD3', 'score': 10.14}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.66}, {'connected_gene': 'NAA38', 'score': 7.6}, {'connected_gene': 'CYB5D1', 'score': 7.39}, {'connected_gene': 'BORCS6', 'score': 5.91}, {'connected_gene': 'ARHGEF15', 'score': 5.69}, {'connected_gene': 'KDM6B', 'score': 4.95}, {'connected_gene': 'TMEM88', 'score': 0.77}, {'connected_gene': 'PIR44061', 'score': 0.77}]
chr17	GH17I008419	8419704	8421728	1.46	[{'connected_gene': 'PIK3R5', 'score': 27.11}, {'connected_gene': 'RNF222', 'score': 12.2}, {'connected_gene': 'SPDYE4', 'score': 10.65}, {'connected_gene': 'RNU7-43P', 'score': 10.52}, {'connected_gene': 'MYH10', 'score': 10.44}, {'connected_gene': 'NDEL1', 'score': 8.97}, {'connected_gene': 'PER1', 'score': 6.66}, {'connected_gene': 'VAMP2', 'score': 1.84}, {'connected_gene': 'BORCS6', 'score': 1.79}, {'connected_gene': 'GC17P008467', 'score': 0.25}]
chr17	GH17I007833	7833490	7845968	2.75	[{'connected_gene': 'KDM6B', 'score': 607.82}, {'connected_gene': 'DVL2', 'score': 134.07}, {'connected_gene': 'PFAS', 'score': 118.39}, {'connected_gene': 'CTC1', 'score': 98.91}, {'connected_gene': 'WRAP53', 'score': 84.56}, {'connected_gene': 'CNTROB', 'score': 79.82}, {'connected_gene': 'POLR2A', 'score': 71.55}, {'connected_gene': 'SNORD10', 'score': 67.27}, {'connected_gene': 'SNORA48', 'score': 56.96}, {'connected_gene': 'PER1', 'score': 54.84}, {'connected_gene': 'ENSG00000262089', 'score': 51.89}, {'connected_gene': 'ENSG00000265749', 'score': 48.67}, {'connected_gene': 'NLGN2', 'score': 48.64}, {'connected_gene': 'PLSCR3', 'score': 48.19}, {'connected_gene': 'RPL26', 'score': 31.22}, {'connected_gene': 'MIR324', 'score': 30.44}, {'connected_gene': 'EIF4A1', 'score': 29.27}, {'connected_gene': 'KCTD11', 'score': 29.11}, {'connected_gene': 'SLC25A35', 'score': 27.33}, {'connected_gene': 'CYB5D1', 'score': 20.91}, {'connected_gene': 'ZBTB4', 'score': 20.37}, {'connected_gene': 'MIR497HG', 'score': 20.32}, {'connected_gene': 'SENP3', 'score': 19.49}, {'connected_gene': 'NEURL4', 'score': 19.19}, {'connected_gene': 'LOC100996842', 'score': 18.24}, {'connected_gene': 'GPS2', 'score': 15.79}, {'connected_gene': 'ATP1B2', 'score': 14.31}, {'connected_gene': 'CD68', 'score': 14.09}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'VAMP2', 'score': 13.2}, {'connected_gene': 'TP53', 'score': 11.01}, {'connected_gene': 'SCARNA21', 'score': 10.27}, {'connected_gene': 'HES7', 'score': 10.21}, {'connected_gene': 'CHD3', 'score': 10.09}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NAA38', 'score': 8.35}, {'connected_gene': 'BORCS6', 'score': 5.96}, {'connected_gene': 'ACAP1', 'score': 5.09}, {'connected_gene': 'SAT2', 'score': 2.64}, {'connected_gene': 'TNFSF12', 'score': 2.48}, {'connected_gene': 'GC17P007843', 'score': 0.77}, {'connected_gene': 'LOC105371516', 'score': 0.44}, {'connected_gene': 'DNAH2', 'score': 0.13}]
chr17	GH17I008699	8699996	8701638	0.38	[{'connected_gene': 'CCDC42', 'score': 5.64}, {'connected_gene': 'BORCS6', 'score': 5.0}, {'connected_gene': 'LOC105371526', 'score': 0.39}, {'connected_gene': 'LOC105371525', 'score': 0.29}]
chr17	GH17I008723	8723608	8725769	0.49	[{'connected_gene': 'CCDC42', 'score': 24.34}, {'connected_gene': 'MYH10', 'score': 12.15}, {'connected_gene': 'SPDYE4', 'score': 10.9}, {'connected_gene': 'RNF222', 'score': 10.51}, {'connected_gene': 'BORCS6', 'score': 5.85}, {'connected_gene': 'PIR61588', 'score': 0.44}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17	GH17I007854	7854473	7859457	2.3	[{'connected_gene': 'CYB5D1', 'score': 561.44}, {'connected_gene': 'NAA38', 'score': 557.53}, {'connected_gene': 'GC17P007860', 'score': 550.77}, {'connected_gene': 'TMEM88', 'score': 550.77}, {'connected_gene': 'ENSG00000280046', 'score': 550.77}, {'connected_gene': 'SNORD10', 'score': 14.05}, {'connected_gene': 'DVL2', 'score': 12.77}, {'connected_gene': 'PFAS', 'score': 11.9}, {'connected_gene': 'SNORA48', 'score': 11.72}, {'connected_gene': 'CTC1', 'score': 11.29}, {'connected_gene': 'RNASEK', 'score': 10.98}, {'connected_gene': 'SENP3', 'score': 10.61}, {'connected_gene': 'PER1', 'score': 10.23}, {'connected_gene': 'CHD3', 'score': 10.16}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.84}, {'connected_gene': 'ALOX12-AS1', 'score': 9.79}, {'connected_gene': 'NEURL4', 'score': 9.66}, {'connected_gene': 'BORCS6', 'score': 5.91}, {'connected_gene': 'KDM6B', 'score': 0.34}]
chr17	GH17I008128	8128512	8128667	0.52	[{'connected_gene': 'LOC105376799', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 31.33}, {'connected_gene': 'SNORD118', 'score': 12.46}, {'connected_gene': 'TMEM107', 'score': 12.44}, {'connected_gene': 'BORCS6', 'score': 11.13}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'ALOX15B', 'score': 9.91}, {'connected_gene': 'CNTROB', 'score': 2.49}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.39}, {'connected_gene': 'GC17M008512', 'score': 0.39}]
chr17	GH17I008185	8185400	8191268	2.35	[{'connected_gene': 'TRT-AGT1-1', 'score': 550.77}, {'connected_gene': 'PIR40201', 'score': 550.77}, {'connected_gene': 'BORCS6', 'score': 550.77}, {'connected_gene': 'MIR4521', 'score': 550.77}, {'connected_gene': 'PIR38980', 'score': 550.77}, {'connected_gene': 'TRS-GCT4-3', 'score': 550.77}, {'connected_gene': 'GC17M008515', 'score': 550.77}, {'connected_gene': 'ENSG00000279152', 'score': 550.77}, {'connected_gene': 'PIR38375', 'score': 550.77}, {'connected_gene': 'TRI-AAT5-5', 'score': 550.77}, {'connected_gene': 'PIR49700', 'score': 550.77}, {'connected_gene': 'GC17M008516', 'score': 550.77}, {'connected_gene': 'TRW-CCA3-3', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 113.24}, {'connected_gene': 'PFAS', 'score': 101.98}, {'connected_gene': 'WRAP53', 'score': 76.31}, {'connected_gene': 'CNTROB', 'score': 74.11}, {'connected_gene': 'CTC1', 'score': 56.83}, {'connected_gene': 'POLR2A', 'score': 54.0}, {'connected_gene': 'ENSG00000265749', 'score': 48.89}, {'connected_gene': 'NEURL4', 'score': 46.36}, {'connected_gene': 'SENP3', 'score': 40.77}, {'connected_gene': 'SNORD10', 'score': 38.11}, {'connected_gene': 'SNORA48', 'score': 31.17}, {'connected_gene': 'KDM6B', 'score': 29.65}, {'connected_gene': 'LOC100996842', 'score': 29.47}, {'connected_gene': 'NLGN2', 'score': 28.82}, {'connected_gene': 'MIR324', 'score': 28.76}, {'connected_gene': 'RPL26', 'score': 28.67}, {'connected_gene': 'ATP1B2', 'score': 23.4}, {'connected_gene': 'CYB5D1', 'score': 23.15}, {'connected_gene': 'EIF4A1', 'score': 20.86}, {'connected_gene': 'PER1', 'score': 19.94}, {'connected_gene': 'PLSCR3', 'score': 19.87}, {'connected_gene': 'VAMP2', 'score': 17.0}, {'connected_gene': 'ELP5', 'score': 15.33}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'AURKB', 'score': 12.64}, {'connected_gene': 'LINC00324', 'score': 12.22}, {'connected_gene': 'ENSG00000269947', 'score': 11.21}, {'connected_gene': 'KCNAB3', 'score': 10.61}, {'connected_gene': 'KCTD11', 'score': 10.43}, {'connected_gene': 'GPS2', 'score': 10.14}, {'connected_gene': 'SLC25A35', 'score': 10.11}, {'connected_gene': 'SHBG', 'score': 10.08}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}]