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
ENST00000373043	[[38272650, 38274404], [38274649, 38275124]]	[[38274356, 38274404], [38274649, 38274745]]
ENST00000419397	[[38273331, 38273352], [38274202, 38274404]]	None
ENST00000468084	[[38273418, 38273978], [38274202, 38274404], [38274649, 38275121]]	[[38274356, 38274404], [38274649, 38274745]]
ENST00000373042	[[38273817, 38274111], [38274202, 38274404], [38274649, 38275126]]	[[38274076, 38274111], [38274202, 38274404], [38274649, 38274745]]
ENST00000446260	[[38274081, 38274404], [38274649, 38275126]]	[[38274081, 38274404], [38274649, 38274806]]
NM_001142726	[[38273472, 38273978], [38274202, 38274404], [38274649, 38275126]]	[[38274356, 38274404], [38274649, 38274745]]
NM_198446	[[38273472, 38274111], [38274202, 38274404], [38274649, 38275126]]	[[38274076, 38274111], [38274202, 38274404], [38274649, 38274745]]

Promoter

Chrom	Start	End	Description
chr1	38273422	38273433	CAGE_peak_9_at_C1orf122_5end
chr1	38273440	38273477	CAGE_peak_2_at_C1orf122_5end
chr1	38273482	38273510	CAGE_peak_4_at_C1orf122_5end
chr1	38273528	38273541	CAGE_peak_8_at_C1orf122_5end
chr1	38273900	38273927	CAGE_peak_6_at_C1orf122_5end
chr1	38273930	38273975	CAGE_peak_3_at_C1orf122_5end
chr1	38273988	38274002	CAGE_peak_7_at_C1orf122_5end
chr1	38274167	38274195	CAGE_peak_5_at_C1orf122_5end
chr1	38274246	38274318	CAGE_peak_1_at_C1orf122_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I037470	37470221	37488505	2.85	[{'connected_gene': 'ZC3H12A', 'score': 596.91}, {'connected_gene': 'MIR6732', 'score': 550.77}, {'connected_gene': 'LINC01137', 'score': 44.26}, {'connected_gene': 'MTF1', 'score': 33.94}, {'connected_gene': 'SNIP1', 'score': 21.25}, {'connected_gene': 'GNL2', 'score': 17.01}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'SF3A3', 'score': 14.23}, {'connected_gene': 'FTH1P1', 'score': 10.37}, {'connected_gene': 'MEAF6', 'score': 9.98}, {'connected_gene': 'YRDC', 'score': 3.72}, {'connected_gene': 'C1orf122', 'score': 1.83}, {'connected_gene': 'PIR46555', 'score': 0.77}, {'connected_gene': 'GC01M037470', 'score': 0.44}]
chr1	GH01I037854	37854001	37854600	0.43	[{'connected_gene': 'YRDC', 'score': 10.83}, {'connected_gene': 'C1orf122', 'score': 10.83}, {'connected_gene': 'INPP5B', 'score': 10.4}, {'connected_gene': 'MTF1', 'score': 0.44}, {'connected_gene': 'RPS2P13', 'score': 0.39}]
chr1	GH01I037844	37844601	37844800	0.2	[{'connected_gene': 'YRDC', 'score': 11.45}, {'connected_gene': 'C1orf122', 'score': 11.45}, {'connected_gene': 'ENSG00000233728', 'score': 10.72}, {'connected_gene': 'RPS2P13', 'score': 0.77}, {'connected_gene': 'MTF1', 'score': 0.39}]
chr1	GH01I038125	38125749	38127000	0.68	[{'connected_gene': 'POU3F1', 'score': 1.95}, {'connected_gene': 'C1orf122', 'score': 1.7}, {'connected_gene': 'GC01P038138', 'score': 0.39}, {'connected_gene': 'MIR3659', 'score': 0.28}]
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	GH01I037845	37845201	37847600	1.05	[{'connected_gene': 'MTF1', 'score': 29.85}, {'connected_gene': 'ZC3H12A', 'score': 28.85}, {'connected_gene': 'YRDC', 'score': 13.01}, {'connected_gene': 'C1orf122', 'score': 11.27}, {'connected_gene': 'ENSG00000233728', 'score': 10.5}, {'connected_gene': 'CDCA8', 'score': 9.84}, {'connected_gene': 'C1orf109', 'score': 9.84}, {'connected_gene': 'FHL3', 'score': 5.64}, {'connected_gene': 'SNIP1', 'score': 3.05}, {'connected_gene': 'RPS2P13', 'score': 0.44}]
chr1	GH01I037850	37850001	37853800	1.36	[{'connected_gene': 'MTF1', 'score': 45.73}, {'connected_gene': 'INPP5B', 'score': 36.9}, {'connected_gene': 'ZC3H12A', 'score': 25.89}, {'connected_gene': 'YRDC', 'score': 13.25}, {'connected_gene': 'C1orf122', 'score': 10.84}, {'connected_gene': 'ENSG00000233728', 'score': 10.58}, {'connected_gene': 'SNIP1', 'score': 2.75}, {'connected_gene': 'RPS2P13', 'score': 0.39}]
chr1	GH01I037806	37806382	37809902	1.98	[{'connected_gene': 'C1orf122', 'score': 550.77}, {'connected_gene': 'YRDC', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 34.22}, {'connected_gene': 'SF3A3', 'score': 21.38}, {'connected_gene': 'SNIP1', 'score': 15.33}, {'connected_gene': 'GNL2', 'score': 12.23}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'FHL3', 'score': 4.69}, {'connected_gene': 'GC01M037824', 'score': 0.44}, {'connected_gene': 'MTF1', 'score': 0.23}]
chr1	GH01I037752	37752800	37753001	0.79	[{'connected_gene': 'C1orf122', 'score': 10.32}, {'connected_gene': 'YRDC', 'score': 10.31}, {'connected_gene': 'ENSG00000233728', 'score': 10.31}, {'connected_gene': 'ENSG00000200421', 'score': 0.39}, {'connected_gene': 'EPHA10', 'score': 0.39}]
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	GH01I037842	37842683	37842892	0.38	[{'connected_gene': 'RPS2P13', 'score': 550.77}, {'connected_gene': 'ZC3H12A', 'score': 12.88}, {'connected_gene': 'YRDC', 'score': 11.47}, {'connected_gene': 'C1orf122', 'score': 11.45}, {'connected_gene': 'ENSG00000233728', 'score': 10.72}, {'connected_gene': 'MTF1', 'score': 9.16}, {'connected_gene': 'FHL3', 'score': 4.58}, {'connected_gene': 'SNIP1', 'score': 2.26}]