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

Promoter

Chrom	Start	End	Description
chr19	39971470	39971498	CAGE_peak_1_at_TIMM50_5end
chr19	39971505	39971518	CAGE_peak_2_at_TIMM50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I039479	39479373	39482240	1.79	[{'connected_gene': 'TIMM50', 'score': 562.12}, {'connected_gene': 'SUPT5H', 'score': 38.78}, {'connected_gene': 'FBL', 'score': 22.59}, {'connected_gene': 'HNRNPL', 'score': 21.4}, {'connected_gene': 'ZNF546', 'score': 20.61}, {'connected_gene': 'PAF1', 'score': 20.33}, {'connected_gene': 'RPS16', 'score': 19.98}, {'connected_gene': 'ENSG00000269688', 'score': 10.99}, {'connected_gene': 'PSMC4', 'score': 10.94}, {'connected_gene': 'PAK4', 'score': 10.55}, {'connected_gene': 'SAMD4B', 'score': 10.16}, {'connected_gene': 'EID2B', 'score': 9.95}, {'connected_gene': 'ZNF780A', 'score': 9.91}, {'connected_gene': 'ZNF780B', 'score': 9.79}, {'connected_gene': 'GC19P039491', 'score': 0.39}]
chr19	GH19I039475	39475381	39475510	0.72	[{'connected_gene': 'TIMM50', 'score': 0.77}, {'connected_gene': 'GC19P039462', 'score': 0.39}, {'connected_gene': 'GC19M039723', 'score': 0.39}, {'connected_gene': 'SUPT5H', 'score': 0.28}]
chr19	GH19I039422	39422421	39424005	0.74	[{'connected_gene': 'TIMM50', 'score': 11.65}, {'connected_gene': 'RPS16', 'score': 11.44}, {'connected_gene': 'EID2B', 'score': 11.1}, {'connected_gene': 'DLL3', 'score': 10.91}, {'connected_gene': 'GC19P039427', 'score': 0.77}, {'connected_gene': 'PLEKHG2', 'score': 0.39}, {'connected_gene': 'GC19M039723', 'score': 0.26}]
chr19	GH19I039502	39502841	39503070	0.99	[{'connected_gene': 'SUPT5H', 'score': 22.72}, {'connected_gene': 'PAF1', 'score': 13.22}, {'connected_gene': 'ZNF780B', 'score': 12.4}, {'connected_gene': 'EID2B', 'score': 11.57}, {'connected_gene': 'EID2', 'score': 11.41}, {'connected_gene': 'TIMM50', 'score': 10.43}, {'connected_gene': 'PSMC4', 'score': 10.02}, {'connected_gene': 'ZNF780A', 'score': 9.95}, {'connected_gene': 'DLL3', 'score': 0.77}, {'connected_gene': 'SELENOV', 'score': 0.39}]
chr19	GH19I039506	39506317	39508369	1.23	[{'connected_gene': 'SUPT5H', 'score': 58.56}, {'connected_gene': 'ZNF780B', 'score': 48.84}, {'connected_gene': 'HNRNPL', 'score': 43.22}, {'connected_gene': 'PAK4', 'score': 32.11}, {'connected_gene': 'ZNF546', 'score': 31.09}, {'connected_gene': 'TIMM50', 'score': 24.91}, {'connected_gene': 'PAF1', 'score': 23.21}, {'connected_gene': 'PLEKHG2', 'score': 21.96}, {'connected_gene': 'AKT2', 'score': 21.34}, {'connected_gene': 'RPS16', 'score': 21.11}, {'connected_gene': 'ZNF780A', 'score': 18.8}, {'connected_gene': 'FBL', 'score': 14.15}, {'connected_gene': 'ENSG00000267892', 'score': 13.47}, {'connected_gene': 'EID2B', 'score': 12.22}, {'connected_gene': 'EID2', 'score': 11.79}, {'connected_gene': 'RN7SL566P', 'score': 11.45}, {'connected_gene': 'ENSG00000269688', 'score': 10.97}, {'connected_gene': 'ENSG00000268366', 'score': 10.78}, {'connected_gene': 'SERTAD3', 'score': 10.25}, {'connected_gene': 'FBXO17', 'score': 9.81}, {'connected_gene': 'SELENOV', 'score': 0.44}, {'connected_gene': 'DLL3', 'score': 0.44}]
chr19	GH19I039552	39552201	39552779	1.01	[{'connected_gene': 'PLEKHG2', 'score': 22.89}, {'connected_gene': 'MED29', 'score': 18.77}, {'connected_gene': 'EID2B', 'score': 17.55}, {'connected_gene': 'SPTBN4', 'score': 13.96}, {'connected_gene': 'ZFP36', 'score': 12.0}, {'connected_gene': 'DLL3', 'score': 11.06}, {'connected_gene': 'TIMM50', 'score': 10.45}, {'connected_gene': 'EID2', 'score': 10.18}, {'connected_gene': 'RPS16', 'score': 7.16}, {'connected_gene': 'PAF1', 'score': 2.18}, {'connected_gene': 'LOC105372399', 'score': 0.44}, {'connected_gene': 'GC19P039533', 'score': 0.37}, {'connected_gene': 'ENSG00000269188', 'score': 0.29}]
chr19	GH19I039371	39371709	39373786	1.1	[{'connected_gene': 'RPS16', 'score': 15.43}, {'connected_gene': 'SUPT5H', 'score': 11.0}, {'connected_gene': 'TIMM50', 'score': 10.44}, {'connected_gene': 'EID2B', 'score': 10.29}, {'connected_gene': 'SAMD4B', 'score': 4.73}, {'connected_gene': 'ENSG00000205041', 'score': 4.71}, {'connected_gene': 'RN7SL566P', 'score': 0.77}, {'connected_gene': 'GC19P039385', 'score': 0.39}]
chr19	GH19I039474	39474241	39474410	1.03	[{'connected_gene': 'ZNF780B', 'score': 15.54}, {'connected_gene': 'SUPT5H', 'score': 12.21}, {'connected_gene': 'ZNF780A', 'score': 10.66}, {'connected_gene': 'EID2', 'score': 10.43}, {'connected_gene': 'ZNF546', 'score': 10.32}, {'connected_gene': 'TIMM50', 'score': 0.44}, {'connected_gene': 'GC19P039462', 'score': 0.39}, {'connected_gene': 'GC19M039723', 'score': 0.39}]
chr19	GH19I039551	39551541	39551690	0.71	[{'connected_gene': 'DLL3', 'score': 11.06}, {'connected_gene': 'TIMM50', 'score': 10.45}, {'connected_gene': 'PLEKHG2', 'score': 9.91}, {'connected_gene': 'ZFP36', 'score': 9.9}, {'connected_gene': 'LOC105372399', 'score': 0.77}, {'connected_gene': 'GC19P039533', 'score': 0.37}, {'connected_gene': 'ENSG00000269188', 'score': 0.29}]
chr19	GH19I039497	39497611	39499790	1.71	[{'connected_gene': 'DLL3', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 22.54}, {'connected_gene': 'ZNF780B', 'score': 22.06}, {'connected_gene': 'EID2B', 'score': 17.48}, {'connected_gene': 'MED29', 'score': 15.41}, {'connected_gene': 'PAK4', 'score': 14.33}, {'connected_gene': 'SPTBN4', 'score': 13.96}, {'connected_gene': 'ENSG00000267892', 'score': 13.47}, {'connected_gene': 'RPS16', 'score': 11.16}, {'connected_gene': 'AKT2', 'score': 11.07}, {'connected_gene': 'FBL', 'score': 10.97}, {'connected_gene': 'EID2', 'score': 10.32}, {'connected_gene': 'ACTN4', 'score': 10.11}, {'connected_gene': 'TIMM50', 'score': 9.94}, {'connected_gene': 'FBXO17', 'score': 9.81}, {'connected_gene': 'GC19P039491', 'score': 0.44}]
chr19	GH19I039368	39368090	39371420	0.43	[{'connected_gene': 'RN7SL566P', 'score': 550.77}, {'connected_gene': 'PAF1', 'score': 12.79}, {'connected_gene': 'MED29', 'score': 12.79}, {'connected_gene': 'RPS16', 'score': 11.29}, {'connected_gene': 'SUPT5H', 'score': 11.29}, {'connected_gene': 'TIMM50', 'score': 10.43}, {'connected_gene': 'EID2B', 'score': 10.39}, {'connected_gene': 'SAMD4B', 'score': 4.97}, {'connected_gene': 'ENSG00000205041', 'score': 4.7}, {'connected_gene': 'GC19P039385', 'score': 0.37}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000314349	[[39971051, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980568]]	[[39971184, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]
ENST00000601358	[[39971123, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980568]]	[[39971493, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976440]]
ENST00000607714	[[39971471, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980714]]	[[39971493, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]
ENST00000599794	[[39971480, 39971601], [39978700, 39978857], [39979178, 39979285], [39980358, 39980759]]	[[39971493, 39971601], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]
ENST00000597666	[[39971489, 39971601], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978814]]	[[39971493, 39971601], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978814]]
ENST00000601403	[[39971492, 39971601], [39972522, 39972673], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978826]]	[[39971493, 39971601], [39972522, 39972673], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978826]]
ENST00000602028	[[39971495, 39971601], [39972522, 39972673], [39973524, 39973556], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857]]	[[39971495, 39971601], [39972522, 39972673], [39973524, 39973556], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857]]
ENST00000544017	[[39971517, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980561]]	[[39973545, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]
ENST00000599733	[[39971567, 39971601], [39972522, 39972673], [39973524, 39973603], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135]]	[[39971567, 39971601], [39972522, 39972673], [39973524, 39973603], [39973774, 39973796], [39976183, 39976242], [39976327, 39976331]]
ENST00000602265	[[39971567, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979244]]	[[39971567, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976440]]
ENST00000594583	[[39971864, 39971956], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135]]	[[39971864, 39971956], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135]]
ENST00000595961	[[39976230, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39981870]]	None
ENST00000598125	[[39971485, 39971601], [39972522, 39972673], [39973524, 39973834]]	None
ENST00000595286	[[39971497, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39974185]]	None
ENST00000597782	[[39971521, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39975791, 39975903], [39976183, 39976242]]	[[39971521, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39975791, 39975841]]
ENST00000596239	[[39975678, 39976242], [39976327, 39976446]]	None
ENST00000597552	[[39978645, 39978857], [39979178, 39979285], [39980358, 39980408]]	None
ENST00000601252	[[39978753, 39978857], [39979178, 39979285], [39980358, 39981058], [39982536, 39983362]]	[[39978753, 39978857], [39979178, 39979285], [39980358, 39980460]]
ENST00000595527	[[39982151, 39984422]]	None
ENST00000600878	[[39983056, 39983408], [39983934, 39984355]]	None
NM_001329559	[[39971051, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39984425]]	[[39973545, 39973556], [39973774, 39973796], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]
NM_001001563	[[39971051, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39984425]]	[[39971184, 39971601], [39972522, 39972673], [39973524, 39973556], [39973774, 39973796], [39976183, 39976242], [39976327, 39976447], [39976826, 39976931], [39977036, 39977135], [39978700, 39978857], [39979178, 39979285], [39980358, 39980460]]