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
ENST00000391587	[[39155446, 39156138]]	[[39155808, 39156105]]
NM_031959	[[39155444, 39156138]]	[[39155808, 39156105]]

Promoter

Chrom	Start	End	Description
chr17	39156155	39156162	CAGE_peak_1_at_KRTAP3-2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041002	41002410	41003370	0.67	[{'connected_gene': 'KRTAP3-4P', 'score': 550.77}, {'connected_gene': 'KRT23', 'score': 9.35}, {'connected_gene': 'KRTAP3-2', 'score': 5.77}, {'connected_gene': 'TMEM99', 'score': 4.49}]
chr17	GH17I040999	40999896	40999955	0.61	[{'connected_gene': 'KRTAP3-2', 'score': 550.77}, {'connected_gene': 'GC17P040995', 'score': 0.77}, {'connected_gene': 'KRTAP3-4P', 'score': 0.77}]
chr17	GH17I040948	40948885	40960541	1.66	[{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17	GH17I040601	40601570	40609705	1.55	[{'connected_gene': 'SMARCE1', 'score': 37.86}, {'connected_gene': 'CCR7', 'score': 19.79}, {'connected_gene': 'KRT222', 'score': 10.31}, {'connected_gene': 'RAPGEFL1', 'score': 6.02}, {'connected_gene': 'RARA', 'score': 1.93}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'KRTAP3-2', 'score': 1.16}, {'connected_gene': 'WIPF2', 'score': 1.14}, {'connected_gene': 'ENSG00000279775', 'score': 0.44}, {'connected_gene': 'GC17M040594', 'score': 0.39}]
chr17	GH17I040908	40908603	40917347	1.68	[{'connected_gene': 'KRT23', 'score': 18.92}, {'connected_gene': 'KRTAP3-2', 'score': 15.5}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'KRT20', 'score': 10.7}, {'connected_gene': 'TMEM99', 'score': 10.03}, {'connected_gene': 'KRT37', 'score': 9.73}, {'connected_gene': 'KRT28', 'score': 9.65}, {'connected_gene': 'KRT40', 'score': 9.55}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT31', 'score': 9.29}, {'connected_gene': 'KRT38', 'score': 9.04}, {'connected_gene': 'KRT19', 'score': 4.71}, {'connected_gene': 'KRTAP1-5', 'score': 3.88}, {'connected_gene': 'KRTAP1-1', 'score': 3.26}, {'connected_gene': 'IGFBP4', 'score': 1.73}, {'connected_gene': 'GC17P040955', 'score': 0.44}, {'connected_gene': 'LOC105371777', 'score': 0.21}]
chr17	GH17I040935	40935685	40939287	1.79	[{'connected_gene': 'KRT23', 'score': 582.61}, {'connected_gene': 'TMEM99', 'score': 8.57}, {'connected_gene': 'KRT39', 'score': 6.04}, {'connected_gene': 'KRTAP3-2', 'score': 5.39}, {'connected_gene': 'KRTAP2-1', 'score': 1.31}, {'connected_gene': 'GC17M040929', 'score': 0.44}, {'connected_gene': 'ENSG00000234477', 'score': 0.37}]
chr17	GH17I040963	40963320	40964817	0.54	[{'connected_gene': 'KRT23', 'score': 22.58}, {'connected_gene': 'KRT40', 'score': 16.91}, {'connected_gene': 'KRTAP3-2', 'score': 10.71}, {'connected_gene': 'KRTAP2-1', 'score': 10.35}, {'connected_gene': 'KRTAP2-2', 'score': 10.33}, {'connected_gene': 'KRTAP3-3', 'score': 10.21}, {'connected_gene': 'ENSG00000234477', 'score': 10.1}, {'connected_gene': 'KRTAP1-5', 'score': 10.0}, {'connected_gene': 'KRTAP2-3', 'score': 9.99}, {'connected_gene': 'KRTAP4-6', 'score': 9.54}, {'connected_gene': 'LOC100505782', 'score': 9.3}, {'connected_gene': 'KRT39', 'score': 0.77}]
chr17	GH17I040900	40900290	40905306	1.42	[{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17	GH17I040224	40224689	40225498	1.02	[{'connected_gene': 'WIPF2', 'score': 550.44}, {'connected_gene': 'KRTAP3-2', 'score': 4.92}, {'connected_gene': 'RAPGEFL1', 'score': 4.28}, {'connected_gene': 'GC17P040244', 'score': 0.37}]
chr17	GH17I040546	40546965	40567241	2.35	[{'connected_gene': 'CCR7', 'score': 568.72}, {'connected_gene': 'PIR43413', 'score': 550.77}, {'connected_gene': 'SNORD124', 'score': 23.37}, {'connected_gene': 'SMARCE1', 'score': 12.92}, {'connected_gene': 'TOP2A', 'score': 11.79}, {'connected_gene': 'IGFBP4', 'score': 5.8}, {'connected_gene': 'ENSG00000266088', 'score': 4.86}, {'connected_gene': 'KRTAP3-2', 'score': 4.83}, {'connected_gene': 'KRT34', 'score': 4.54}, {'connected_gene': 'GJD3', 'score': 2.94}, {'connected_gene': 'CASC3', 'score': 2.12}, {'connected_gene': 'KRTAP2-1', 'score': 1.35}, {'connected_gene': 'KRTAP1-5', 'score': 1.33}, {'connected_gene': 'WIPF2', 'score': 1.33}, {'connected_gene': 'MED24', 'score': 1.17}, {'connected_gene': 'GC17P040564', 'score': 0.44}, {'connected_gene': 'GC17M040528', 'score': 0.44}]
chr17	GH17I041084	41084101	41084160	0.73	[{'connected_gene': 'KRTAP4-7', 'score': 550.77}, {'connected_gene': 'KRTAP1-5', 'score': 11.1}, {'connected_gene': 'KRTAP1-1', 'score': 10.98}, {'connected_gene': 'KRTAP1-3', 'score': 10.97}, {'connected_gene': 'KRTAP1-4', 'score': 10.95}, {'connected_gene': 'KRTAP2-3', 'score': 10.92}, {'connected_gene': 'KRTAP4-4', 'score': 10.21}, {'connected_gene': 'KRTAP4-3', 'score': 10.2}, {'connected_gene': 'KRTAP4-5', 'score': 9.91}, {'connected_gene': 'KRT37', 'score': 9.58}, {'connected_gene': 'KRTAP3-2', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 8.78}, {'connected_gene': 'LOC100505782', 'score': 8.78}, {'connected_gene': 'GC17M041060', 'score': 0.44}]
chr17	GH17I040595	40595775	40600078	1.62	[{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 42.57}, {'connected_gene': 'CCR7', 'score': 18.01}, {'connected_gene': 'SNORD124', 'score': 10.43}, {'connected_gene': 'KRT222', 'score': 9.86}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'RARA', 'score': 4.1}, {'connected_gene': 'WIPF2', 'score': 2.15}, {'connected_gene': 'KRTAP3-2', 'score': 1.55}, {'connected_gene': 'CASC3', 'score': 1.42}, {'connected_gene': 'KRTAP2-1', 'score': 1.25}, {'connected_gene': 'KRTAP2-2', 'score': 1.21}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17	GH17I040921	40921801	40923294	1.18	[{'connected_gene': 'ENSG00000234477', 'score': 550.77}, {'connected_gene': 'P3H4', 'score': 11.58}, {'connected_gene': 'MED24', 'score': 10.3}, {'connected_gene': 'TMEM99', 'score': 7.19}, {'connected_gene': 'KRTAP3-2', 'score': 5.16}, {'connected_gene': 'KRT23', 'score': 4.63}, {'connected_gene': 'GC17M040929', 'score': 0.44}]