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
ENST00000409154	[[92632541, 92632697], [92633404, 92633542], [92634422, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92650279]]	[[92632541, 92632697], [92633404, 92633542], [92634422, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92649887]]
ENST00000370378	[[92632608, 92632697], [92633404, 92633542], [92634422, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92650280]]	[[92633413, 92633542], [92634422, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92649887]]
NM_015237	[[92634414, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92650282]]	[[92634518, 92634552], [92636955, 92637017], [92642385, 92643103], [92643367, 92643455], [92643868, 92644008], [92645821, 92648152], [92649420, 92649887]]

Promoter

Chrom	Start	End	Description
chr1	92634472	92634492	CAGE_peak_1_at_KIAA1107_5end
chr1	92634493	92634508	CAGE_peak_2_at_KIAA1107_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I092831	92831312	92835545	2.14	[{'connected_gene': 'RPL5', 'score': 611.59}, {'connected_gene': 'GC01P092832', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 94.11}, {'connected_gene': 'SNORD21', 'score': 86.82}, {'connected_gene': 'CCDC18-AS1', 'score': 63.47}, {'connected_gene': 'MTF2', 'score': 60.33}, {'connected_gene': 'MIG7', 'score': 42.32}, {'connected_gene': 'DR1', 'score': 40.0}, {'connected_gene': 'GLMN', 'score': 28.81}, {'connected_gene': 'RPAP2', 'score': 19.39}, {'connected_gene': 'KIAA1107', 'score': 10.88}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'EVI5', 'score': 9.9}, {'connected_gene': 'TGFBR3', 'score': 9.87}, {'connected_gene': 'FAM69A', 'score': 9.6}, {'connected_gene': 'GC01P092838', 'score': 0.77}]
chr1	GH01I092095	92095789	92097111	0.46	[{'connected_gene': 'KIAA1107', 'score': 15.89}, {'connected_gene': 'GAPDHP46', 'score': 0.37}, {'connected_gene': 'ENSG00000189195', 'score': 0.37}, {'connected_gene': 'BTBD8', 'score': 0.37}, {'connected_gene': 'GC01P092039', 'score': 0.22}]
chr1	GH01I092168	92168649	92169467	0.56	[{'connected_gene': 'KIAA1107', 'score': 0.77}, {'connected_gene': 'ENSG00000273487', 'score': 0.34}, {'connected_gene': 'ENSG00000189195', 'score': 0.17}, {'connected_gene': 'GC01P092039', 'score': 0.13}]
chr1	GH01I093078	93078194	93082676	2.16	[{'connected_gene': 'MTF2', 'score': 602.55}, {'connected_gene': 'CCDC18-AS1', 'score': 148.72}, {'connected_gene': 'SNORA66', 'score': 54.71}, {'connected_gene': 'SNORD21', 'score': 50.35}, {'connected_gene': 'TRR-TCT1-1', 'score': 41.02}, {'connected_gene': 'GLMN', 'score': 40.91}, {'connected_gene': 'RPAP2', 'score': 40.48}, {'connected_gene': 'RPL5', 'score': 29.2}, {'connected_gene': 'DR1', 'score': 27.09}, {'connected_gene': 'DNTTIP2', 'score': 21.03}, {'connected_gene': 'KIAA1107', 'score': 14.18}, {'connected_gene': 'CCDC18', 'score': 10.93}, {'connected_gene': 'TMED5', 'score': 10.93}, {'connected_gene': 'FAM69A', 'score': 6.36}, {'connected_gene': 'GC01P093073', 'score': 0.44}, {'connected_gene': 'GC01P093147', 'score': 0.2}]
chr1	GH01I091836	91836347	91837288	0.54	[{'connected_gene': 'HFM1', 'score': 17.94}, {'connected_gene': 'KIAA1107', 'score': 10.44}, {'connected_gene': 'ZNF644', 'score': 9.89}, {'connected_gene': 'GC01P091842', 'score': 0.44}, {'connected_gene': 'RN7SL653P', 'score': 0.44}, {'connected_gene': 'TGFBR3', 'score': 0.2}]
chr1	GH01I092975	92973776	92979042	1.32	[{'connected_gene': 'RN7SL692P', 'score': 550.77}, {'connected_gene': 'MTF2', 'score': 29.12}, {'connected_gene': 'CCDC18-AS1', 'score': 16.78}, {'connected_gene': 'SNORA66', 'score': 15.88}, {'connected_gene': 'TRR-TCT1-1', 'score': 14.66}, {'connected_gene': 'SNORD21', 'score': 12.06}, {'connected_gene': 'RPL5', 'score': 10.62}, {'connected_gene': 'EVI5', 'score': 10.43}, {'connected_gene': 'KIAA1107', 'score': 10.41}, {'connected_gene': 'MIG7', 'score': 10.27}, {'connected_gene': 'DR1', 'score': 10.16}, {'connected_gene': 'FAM69A', 'score': 8.32}, {'connected_gene': 'GC01P092987', 'score': 0.39}, {'connected_gene': 'GC01P092961', 'score': 0.37}]
chr1	GH01I092079	92079801	92081405	1.97	[{'connected_gene': 'ENSG00000189195', 'score': 550.77}, {'connected_gene': 'BTBD8', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 11.68}, {'connected_gene': 'SNORD21', 'score': 11.54}, {'connected_gene': 'RPL5', 'score': 11.0}, {'connected_gene': 'KIAA1107', 'score': 6.8}, {'connected_gene': 'GAPDHP46', 'score': 0.28}, {'connected_gene': 'GC01P092039', 'score': 0.26}]