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
ENST00000426263	[[43391051, 43392912], [43393275, 43393479], [43394602, 43394704], [43394880, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424501]]	[[43392711, 43392912], [43393275, 43393479], [43394602, 43394704], [43394880, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424322]]
ENST00000475162	[[43392466, 43392649], [43396296, 43396537], [43396716, 43396877]]	None
ENST00000439722	[[43394818, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396611], [43396716, 43396796]]	[[43394818, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396527]]
ENST00000415851	[[43395017, 43395194], [43396461, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424500]]	[[43395182, 43395194], [43396461, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424322]]
ENST00000372500	[[43395989, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424530]]	[[43396107, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424322]]
ENST00000460369	[[43417360, 43417601], [43424304, 43424530]]	None
NM_006516	[[43391045, 43392912], [43393275, 43393479], [43394602, 43394704], [43394880, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424847]]	[[43392711, 43392912], [43393275, 43393479], [43394602, 43394704], [43394880, 43394985], [43395263, 43395451], [43395543, 43395706], [43396296, 43396537], [43396716, 43396877], [43408896, 43408992], [43424304, 43424322]]

Promoter

Chrom	Start	End	Description
chr1	43395320	43395353	CAGE_peak_2_at_SLC2A1_5end
chr1	43396337	43396354	CAGE_peak_3_at_SLC2A1_5end
chr1	43424531	43424546	CAGE_peak_1_at_SLC2A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I042949	42949002	42964628	2.79	[{'connected_gene': 'SLC2A1', 'score': 567.66}, {'connected_gene': 'SLC2A1-AS1', 'score': 42.16}, {'connected_gene': 'SZT2', 'score': 20.73}, {'connected_gene': 'ARTN', 'score': 18.86}, {'connected_gene': 'PPIH', 'score': 13.28}, {'connected_gene': 'P3H1', 'score': 12.74}, {'connected_gene': 'MED8', 'score': 12.58}, {'connected_gene': 'RNU6-880P', 'score': 12.09}, {'connected_gene': 'ERMAP', 'score': 12.08}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'KDM4A-AS1', 'score': 11.14}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'CLDN19', 'score': 3.67}, {'connected_gene': 'SVBP', 'score': 1.79}, {'connected_gene': 'ENSG00000284138', 'score': 0.77}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1	GH01I042928	42928177	42928603	0.66	[{'connected_gene': 'SLC2A1', 'score': 12.52}, {'connected_gene': 'SLC2A1-AS1', 'score': 12.52}, {'connected_gene': 'RNU6-880P', 'score': 11.49}, {'connected_gene': 'ZNF691', 'score': 10.15}, {'connected_gene': 'ENSG00000228192', 'score': 10.15}, {'connected_gene': 'ENSG00000284138', 'score': 0.34}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.31}]
chr1	GH01I042930	42928846	42929598	0.31	[{'connected_gene': 'SLC2A1', 'score': 12.54}, {'connected_gene': 'SLC2A1-AS1', 'score': 12.54}, {'connected_gene': 'RNU6-880P', 'score': 11.04}, {'connected_gene': 'ENSG00000284138', 'score': 0.34}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.31}]
chr1	GH01I042929	42929870	42948855	1.79	[{'connected_gene': 'SLC2A1-AS1', 'score': 41.65}, {'connected_gene': 'HYI', 'score': 13.36}, {'connected_gene': 'SZT2', 'score': 12.58}, {'connected_gene': 'ARTN', 'score': 12.4}, {'connected_gene': 'RNU6-880P', 'score': 11.5}, {'connected_gene': 'FOXJ3', 'score': 10.04}, {'connected_gene': 'C1orf210', 'score': 6.68}, {'connected_gene': 'ERMAP', 'score': 3.31}, {'connected_gene': 'CCDC30', 'score': 3.18}, {'connected_gene': 'YBX1', 'score': 1.86}, {'connected_gene': 'SVBP', 'score': 1.77}, {'connected_gene': 'SLC2A1', 'score': 1.53}, {'connected_gene': 'ENSG00000284138', 'score': 0.39}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.28}]
chr1	GH01I043003	43003860	43010572	1.59	[{'connected_gene': 'SLC2A1-AS1', 'score': 4.16}, {'connected_gene': 'SLC2A1', 'score': 3.12}, {'connected_gene': 'C1orf210', 'score': 1.67}, {'connected_gene': 'GC01P043019', 'score': 0.39}, {'connected_gene': 'RNU6-880P', 'score': 0.37}]
chr1	GH01I042965	42965452	42968341	1.63	[{'connected_gene': 'SLC2A1-AS1', 'score': 43.27}, {'connected_gene': 'RNU6-880P', 'score': 12.14}, {'connected_gene': 'HYI', 'score': 4.02}, {'connected_gene': 'SLC2A1', 'score': 3.51}, {'connected_gene': 'CCDC30', 'score': 1.18}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1	GH01I042923	42922802	42926703	1.5	[{'connected_gene': 'FOXJ3', 'score': 30.83}, {'connected_gene': 'HYI', 'score': 30.14}, {'connected_gene': 'SZT2', 'score': 23.22}, {'connected_gene': 'P3H1', 'score': 12.31}, {'connected_gene': 'RNU6-880P', 'score': 11.48}, {'connected_gene': 'CCDC30', 'score': 11.13}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'KDM4A', 'score': 9.98}, {'connected_gene': 'LOC105378683', 'score': 9.8}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}, {'connected_gene': 'SLC2A1', 'score': 0.29}]