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
ENST00000368072	[[160246601, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254936]]	[[160249340, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254914]]
ENST00000472750	[[160246656, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160254844, 160254944]]	[[160252846, 160252899], [160254844, 160254914]]
ENST00000467711	[[160247091, 160247177], [160247920, 160247981], [160249590, 160249635], [160249859, 160249872]]	None
ENST00000440949	[[160248270, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254916]]	[[160249340, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252809]]
ENST00000532508	[[160249085, 160249424], [160249590, 160249635], [160249859, 160250036], [160250975, 160251085], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254886]]	None
ENST00000495624	[[160249184, 160249635], [160249859, 160250036], [160251828, 160251934]]	[[160249560, 160249635], [160249859, 160250036], [160251828, 160251934]]
ENST00000462644	[[160249273, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252733, 160252899], [160253319, 160253429], [160253920, 160254013]]	[[160249983, 160250036], [160251828, 160251990], [160252733, 160252899], [160253319, 160253429], [160253920, 160253930]]
ENST00000532643	[[160249282, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252733, 160252899], [160253319, 160253429], [160254844, 160254936]]	[[160249983, 160250036], [160251828, 160251990], [160252733, 160252899], [160253319, 160253429], [160254844, 160254914]]
ENST00000392220	[[160249865, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160253920, 160254021]]	[[160249865, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160253920, 160253930]]
ENST00000532516	[[160249965, 160250036], [160251828, 160252309]]	None
ENST00000533699	[[160251860, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160256074, 160256138]]	None
ENST00000533104	[[160251895, 160251990], [160252206, 160252292], [160252615, 160252899], [160254844, 160254923]]	None
ENST00000524939	[[160252107, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254931]]	None
NM_002857	[[160246598, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254941]]	[[160249340, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254914]]
NM_001193644	[[160246598, 160249372], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254941]]	[[160249348, 160249372], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160253319, 160253429], [160254844, 160254914]]
NR_036493	[[160246598, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252733, 160252899], [160253319, 160253429], [160254844, 160254941]]	None
NR_036492	[[160246598, 160249424], [160249590, 160249635], [160249859, 160250036], [160251828, 160251990], [160252206, 160252292], [160252733, 160252899], [160254844, 160254941]]	None

Promoter

Chrom	Start	End	Description
chr1	160253998	160254043	CAGE_peak_3_at_PEX19_5end
chr1	160254913	160254943	CAGE_peak_1_at_DCAF8_5end,CAGE_peak_1_at_PEX19_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I160095	160095441	160103654	2.65	[{'connected_gene': 'IGSF8', 'score': 561.74}, {'connected_gene': 'ATP1A4', 'score': 15.64}, {'connected_gene': 'CASQ1', 'score': 11.06}, {'connected_gene': 'KCNJ10', 'score': 11.02}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'PEX19', 'score': 10.42}, {'connected_gene': 'PIGM', 'score': 9.93}, {'connected_gene': 'ENSG00000225279', 'score': 9.74}, {'connected_gene': 'ATP1A2', 'score': 2.2}, {'connected_gene': 'KCNJ9', 'score': 1.98}]
chr1	GH01I160283	160283082	160285780	2	[{'connected_gene': 'NHLH1', 'score': 550.77}, {'connected_gene': 'ENSG00000258465', 'score': 550.77}, {'connected_gene': 'PEX19', 'score': 550.77}, {'connected_gene': 'DEDD', 'score': 14.97}, {'connected_gene': 'B4GALT3', 'score': 14.71}, {'connected_gene': 'LINC01133', 'score': 13.9}, {'connected_gene': 'NCSTN', 'score': 12.82}, {'connected_gene': 'SLAMF8', 'score': 11.38}, {'connected_gene': 'USP21', 'score': 9.97}, {'connected_gene': 'COPA', 'score': 5.57}, {'connected_gene': 'RPSAP18', 'score': 0.37}]
chr1	GH01I160104	160104001	160105312	0.78	[{'connected_gene': 'KCNJ9', 'score': 11.31}, {'connected_gene': 'CASQ1', 'score': 11.07}, {'connected_gene': 'PEA15', 'score': 10.44}, {'connected_gene': 'DCAF8', 'score': 10.44}, {'connected_gene': 'PEX19', 'score': 10.43}, {'connected_gene': 'PIGM', 'score': 9.92}, {'connected_gene': 'ATP1A4', 'score': 9.82}, {'connected_gene': 'ENSG00000225279', 'score': 9.72}, {'connected_gene': 'KCNJ10', 'score': 9.61}, {'connected_gene': 'IGSF8', 'score': 7.84}, {'connected_gene': 'ATP1A2', 'score': 0.39}]
chr1	GH01I160216	160216817	160220104	0.79	[{'connected_gene': 'NCSTN', 'score': 21.81}, {'connected_gene': 'CASQ1', 'score': 11.87}, {'connected_gene': 'DCAF8', 'score': 11.53}, {'connected_gene': 'PEX19', 'score': 11.47}, {'connected_gene': 'ATP1A2', 'score': 11.15}, {'connected_gene': 'NHLH1', 'score': 10.52}, {'connected_gene': 'IGSF8', 'score': 10.46}, {'connected_gene': 'PIR40871', 'score': 0.77}, {'connected_gene': 'GC01P160261', 'score': 0.26}, {'connected_gene': 'ENSG00000258465', 'score': 0.2}]
chr1	GH01I160324	160324357	160331793	0.59	[{'connected_gene': 'GC01M160326', 'score': 550.77}, {'connected_gene': 'ENSG00000202078', 'score': 550.77}, {'connected_gene': 'NCSTN', 'score': 34.49}, {'connected_gene': 'COPA', 'score': 16.96}, {'connected_gene': 'USP21', 'score': 13.47}, {'connected_gene': 'B4GALT3', 'score': 11.89}, {'connected_gene': 'PEX19', 'score': 11.28}, {'connected_gene': 'NHLH1', 'score': 11.25}, {'connected_gene': 'DCAF8', 'score': 11.16}, {'connected_gene': 'CASQ1', 'score': 11.01}, {'connected_gene': 'PPOX', 'score': 10.81}, {'connected_gene': 'PEA15', 'score': 10.54}, {'connected_gene': 'IGSF8', 'score': 10.33}, {'connected_gene': 'RNU4-42P', 'score': 10.28}, {'connected_gene': 'DEDD', 'score': 9.86}]