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
ENST00000483182	[[38474929, 38475020], [38478385, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484781]]	None
ENST00000486563	[[38478405, 38478537], [38482030, 38482648]]	None
ENST00000373014	[[38478413, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38490496]]	[[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489300]]
ENST00000537711	[[38478450, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38488370, 38488481], [38489216, 38489520]]	[[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38488370, 38488381]]
ENST00000488453	[[38482254, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489473]]	None
NM_016037	[[38478383, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38490497]]	[[38478474, 38478537], [38482030, 38482092], [38483339, 38483442], [38484135, 38484249], [38484730, 38484824], [38484924, 38485055], [38488370, 38488481], [38489216, 38489300]]

Promoter

Chrom	Start	End	Description
chr1	38478378	38478426	CAGE_peak_1_at_UTP11L_5end
chr1	38478432	38478466	CAGE_peak_2_at_UTP11L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I038989	38989281	38993261	2.25	[{'connected_gene': 'AKIRIN1', 'score': 559.65}, {'connected_gene': 'NDUFS5', 'score': 32.52}, {'connected_gene': 'RHBDL2', 'score': 11.05}, {'connected_gene': 'GJA9', 'score': 10.42}, {'connected_gene': 'MYCBP', 'score': 10.4}, {'connected_gene': 'UTP11', 'score': 10.38}, {'connected_gene': 'PIR42637', 'score': 0.39}, {'connected_gene': 'GC01M038902', 'score': 0.28}]
chr1	GH01I038019	38019991	38021033	0.4	[{'connected_gene': 'POU3F1', 'score': 11.75}, {'connected_gene': 'ENSG00000224592', 'score': 11.75}, {'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1	GH01I038021	38021778	38023013	0.2	[{'connected_gene': 'POU3F1', 'score': 11.78}, {'connected_gene': 'ENSG00000224592', 'score': 11.78}, {'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1	GH01I038053	38053036	38053378	0.91	[{'connected_gene': 'UTP11', 'score': 10.75}, {'connected_gene': 'FHL3', 'score': 10.74}, {'connected_gene': 'LOC105378653', 'score': 0.44}, {'connected_gene': 'ENSG00000224592', 'score': 0.44}, {'connected_gene': 'ENSG00000223589', 'score': 0.31}]
chr1	GH01I038008	38008280	38017539	2.53	[{'connected_gene': 'UTP11', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 48.63}, {'connected_gene': 'INPP5B', 'score': 47.92}, {'connected_gene': 'SNIP1', 'score': 37.34}, {'connected_gene': 'C1orf109', 'score': 35.84}, {'connected_gene': 'RNU6-510P', 'score': 12.1}, {'connected_gene': 'FTH1P1', 'score': 10.74}, {'connected_gene': 'RSPO1', 'score': 10.27}, {'connected_gene': 'MTF1', 'score': 10.23}, {'connected_gene': 'ENSG00000230955', 'score': 10.23}, {'connected_gene': 'YRDC', 'score': 10.18}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'GNL2', 'score': 9.78}, {'connected_gene': 'CDCA8', 'score': 8.69}, {'connected_gene': 'GC01P038029', 'score': 0.37}]
chr1	GH01I037858	37858152	37861557	2.27	[{'connected_gene': 'MTF1', 'score': 550.77}, {'connected_gene': 'ENSG00000230955', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 30.56}, {'connected_gene': 'SNIP1', 'score': 24.23}, {'connected_gene': 'GNL2', 'score': 17.35}, {'connected_gene': 'INPP5B', 'score': 11.87}, {'connected_gene': 'UTP11', 'score': 10.42}, {'connected_gene': 'C1orf109', 'score': 10.03}, {'connected_gene': 'FHL3', 'score': 4.57}]
chr1	GH01I037907	37907029	37908666	0.43	[{'connected_gene': 'INPP5B', 'score': 38.24}, {'connected_gene': 'FHL3', 'score': 11.12}, {'connected_gene': 'UTP11', 'score': 11.11}, {'connected_gene': 'MTF1', 'score': 10.95}, {'connected_gene': 'ENSG00000230955', 'score': 10.95}, {'connected_gene': 'RNU6-584P', 'score': 0.34}, {'connected_gene': 'LOC105378651', 'score': 0.34}]
chr1	GH01I037900	37900572	37902546	0.9	[{'connected_gene': 'INPP5B', 'score': 39.27}, {'connected_gene': 'FHL3', 'score': 16.85}, {'connected_gene': 'MTF1', 'score': 10.97}, {'connected_gene': 'ENSG00000230955', 'score': 10.97}, {'connected_gene': 'UTP11', 'score': 10.57}, {'connected_gene': 'RNU6-584P', 'score': 0.37}, {'connected_gene': 'LOC105378651', 'score': 0.29}]
chr1	GH01I037890	37890489	37890678	0.64	[{'connected_gene': 'INPP5B', 'score': 12.05}, {'connected_gene': 'SF3A3', 'score': 11.64}, {'connected_gene': 'RNU6-510P', 'score': 11.64}, {'connected_gene': 'UTP11', 'score': 10.43}, {'connected_gene': 'FHL3', 'score': 10.43}, {'connected_gene': 'RNU6-584P', 'score': 0.44}, {'connected_gene': 'LOC105378651', 'score': 0.26}]
chr1	GH01I037994	37994512	38008164	2.7	[{'connected_gene': 'FHL3', 'score': 599.57}, {'connected_gene': 'SF3A3', 'score': 46.56}, {'connected_gene': 'SNIP1', 'score': 17.01}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'C1orf109', 'score': 11.45}, {'connected_gene': 'FTH1P1', 'score': 11.15}, {'connected_gene': 'GNL2', 'score': 9.68}, {'connected_gene': 'MEAF6', 'score': 5.26}, {'connected_gene': 'UTP11', 'score': 1.92}, {'connected_gene': 'MTF1', 'score': 1.44}, {'connected_gene': 'RNU6-510P', 'score': 0.44}]
chr1	GH01I037921	37921190	37923924	1.16	[{'connected_gene': 'SF3A3', 'score': 30.46}, {'connected_gene': 'INPP5B', 'score': 24.73}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'MYCBP', 'score': 11.15}, {'connected_gene': 'RNU6-510P', 'score': 11.13}, {'connected_gene': 'MTF1', 'score': 11.03}, {'connected_gene': 'ENSG00000230955', 'score': 11.03}, {'connected_gene': 'GNL2', 'score': 10.88}, {'connected_gene': 'YRDC', 'score': 10.51}, {'connected_gene': 'C1orf109', 'score': 9.86}, {'connected_gene': 'UTP11', 'score': 5.97}, {'connected_gene': 'LOC105378651', 'score': 0.44}, {'connected_gene': 'RNU6-584P', 'score': 0.28}]
chr1	GH01I038020	38019049	38019198	0.88	[{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1	GH01I038018	38018505	38019002	0.67	[{'connected_gene': 'SF3A3', 'score': 11.78}, {'connected_gene': 'RNU6-510P', 'score': 11.78}, {'connected_gene': 'INPP5B', 'score': 10.66}, {'connected_gene': 'YRDC', 'score': 10.17}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'UTP11', 'score': 0.44}, {'connected_gene': 'GC01P038029', 'score': 0.39}]
chr1	GH01I037930	37930135	37933295	1.97	[{'connected_gene': 'LOC105378651', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 550.37}, {'connected_gene': 'SF3A3', 'score': 54.31}, {'connected_gene': 'SNIP1', 'score': 24.22}, {'connected_gene': 'C1orf109', 'score': 19.34}, {'connected_gene': 'GNL2', 'score': 17.33}, {'connected_gene': 'FHL3', 'score': 11.47}, {'connected_gene': 'UTP11', 'score': 10.49}, {'connected_gene': 'RNU6-584P', 'score': 0.25}]
chr1	GH01I038038	38038490	38039524	0.31	[{'connected_gene': 'GC01P038039', 'score': 550.77}, {'connected_gene': 'UTP11', 'score': 10.61}, {'connected_gene': 'FHL3', 'score': 10.59}, {'connected_gene': 'GC01M038029', 'score': 0.44}]
chr1	GH01I038026	38026442	38031678	1.79	[{'connected_gene': 'GC01M038029', 'score': 550.77}, {'connected_gene': 'GC01P038029', 'score': 550.77}, {'connected_gene': 'UTP11', 'score': 0.37}]
chr1	GH01I038023	38023121	38023780	0.2	[{'connected_gene': 'GC01P038029', 'score': 0.44}, {'connected_gene': 'UTP11', 'score': 0.39}]
chr1	GH01I037811	37810201	37810400	0.46	[{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.55}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]
chr1	GH01I037810	37810801	37811401	1.01	[{'connected_gene': 'PIR60496', 'score': 550.77}, {'connected_gene': 'PIR49672', 'score': 550.77}, {'connected_gene': 'GC01M037825', 'score': 550.77}, {'connected_gene': 'PIR56555', 'score': 550.77}, {'connected_gene': 'GC01M037828', 'score': 550.77}, {'connected_gene': 'PIR40914', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 25.19}, {'connected_gene': 'MTF1', 'score': 11.56}, {'connected_gene': 'ENSG00000230955', 'score': 11.56}, {'connected_gene': 'EPHA10', 'score': 10.52}, {'connected_gene': 'FHL3', 'score': 9.79}, {'connected_gene': 'UTP11', 'score': 9.79}, {'connected_gene': 'YRDC', 'score': 0.77}, {'connected_gene': 'GC01M037824', 'score': 0.77}]