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
ENST00000209718	[[39078947, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39092459, 39093205], [39093597, 39093672]]	[[39079240, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39092459, 39092855]]
ENST00000436344	[[39078951, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39093379, 39093702]]	[[39079240, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087692]]
ENST00000462312	[[39078951, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39087624, 39087707], [39093379, 39093836]]	[[39084813, 39084859], [39087624, 39087692]]
ENST00000582754	[[39081412, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39092459, 39093087]]	None
ENST00000494691	[[39084489, 39084612], [39084697, 39084859], [39087624, 39087707], [39093379, 39093511], [39093597, 39093797]]	[[39084813, 39084859], [39087624, 39087692]]
ENST00000584517	[[39085927, 39086348], [39087624, 39087707], [39092459, 39092642]]	[[39086164, 39086348], [39087624, 39087707], [39092459, 39092642]]
ENST00000485751	[[39092699, 39093205], [39093379, 39093738]]	[[39092699, 39092855]]
ENST00000582283	[[39092993, 39093205], [39093379, 39093511], [39093597, 39093829]]	None
ENST00000585006	[[39093083, 39093205], [39093353, 39093511], [39093597, 39093886]]	None
NM_001282433	[[39078947, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39093379, 39093895]]	[[39079240, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087692]]
NM_015515	[[39078947, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39092459, 39093205], [39093597, 39093895]]	[[39079240, 39079335], [39080723, 39080755], [39081605, 39081826], [39084489, 39084612], [39084697, 39084859], [39086191, 39086348], [39087624, 39087707], [39092459, 39092855]]

Promoter

Chrom	Start	End	Description
chr17	39092906	39092924	CAGE_peak_1_at_KRT23_5end
chr17	39093082	39093091	CAGE_peak_4_at_KRT23_5end
chr17	39093486	39093495	CAGE_peak_8_at_KRT23_5end
chr17	39093516	39093527	CAGE_peak_2_at_KRT23_5end
chr17	39093697	39093708	CAGE_peak_5_at_KRT23_5end
chr17	39093826	39093836	CAGE_peak_9_at_KRT23_5end
chr17	39093852	39093862	CAGE_peak_10_at_KRT23_5end
chr17	39093867	39093875	CAGE_peak_14_at_KRT23_5end
chr17	39093879	39093888	CAGE_peak_12_at_KRT23_5end
chr17	39093892	39093901	CAGE_peak_13_at_KRT23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040455	40455894	40465333	1.53	[{'connected_gene': 'CDC6', 'score': 14.76}, {'connected_gene': 'RPL23AP75', 'score': 11.96}, {'connected_gene': 'TNS4', 'score': 11.78}, {'connected_gene': 'GJD3', 'score': 11.46}, {'connected_gene': 'TOP2A', 'score': 11.26}, {'connected_gene': 'KRT23', 'score': 5.97}, {'connected_gene': 'ENSG00000266208', 'score': 5.15}, {'connected_gene': 'IGFBP4', 'score': 2.06}, {'connected_gene': 'TMEM99', 'score': 2.02}, {'connected_gene': 'GC17P040473', 'score': 0.39}]
chr17	GH17I041338	41338033	41343989	0.96	[{'connected_gene': 'KRT38', 'score': 20.57}, {'connected_gene': 'KRTAP16-1', 'score': 10.63}, {'connected_gene': 'KRTAP29-1', 'score': 10.61}, {'connected_gene': 'KRT31', 'score': 10.3}, {'connected_gene': 'LOC100505782', 'score': 10.28}, {'connected_gene': 'KRTAP17-1', 'score': 10.24}, {'connected_gene': 'KRTAP9-6', 'score': 10.09}, {'connected_gene': 'KRT37', 'score': 10.04}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.84}, {'connected_gene': 'RNU2-32P', 'score': 9.84}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRT20', 'score': 9.39}, {'connected_gene': 'KRTAP2-5P', 'score': 9.36}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT23', 'score': 8.62}, {'connected_gene': 'KRT36', 'score': 6.02}, {'connected_gene': 'ENSG00000108516', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
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	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	GH17I041048	41048039	41049838	0.66	[{'connected_gene': 'KRTAP2-1', 'score': 550.77}, {'connected_gene': 'TMEM99', 'score': 5.28}, {'connected_gene': 'KRT23', 'score': 5.16}, {'connected_gene': 'KRT32', 'score': 4.29}, {'connected_gene': 'KRTAP2-2', 'score': 0.44}]
chr17	GH17I041014	41013044	41013529	0.52	[{'connected_gene': 'KRT23', 'score': 9.72}, {'connected_gene': 'KRTAP3-4P', 'score': 0.44}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
chr17	GH17I041009	41009329	41009538	0.9	[{'connected_gene': 'KRT23', 'score': 9.73}, {'connected_gene': 'KRTAP3-4P', 'score': 0.77}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
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	GH17I040932	40932729	40932898	0.31	[{'connected_gene': 'KRT23', 'score': 30.7}, {'connected_gene': 'GC17M040929', 'score': 0.77}, {'connected_gene': 'ENSG00000234477', 'score': 0.39}]
chr17	GH17I040825	40825707	40826626	0.64	[{'connected_gene': 'TMEM99', 'score': 35.02}, {'connected_gene': 'KRT27', 'score': 10.52}, {'connected_gene': 'KRT23', 'score': 9.03}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'KRT10', 'score': 0.77}, {'connected_gene': 'PIR60311', 'score': 0.44}, {'connected_gene': 'GC17P040810', 'score': 0.37}]
chr17	GH17I040827	40827145	40830016	1.04	[{'connected_gene': 'P3H4', 'score': 11.21}, {'connected_gene': 'KRT27', 'score': 10.5}, {'connected_gene': 'KRT23', 'score': 9.04}, {'connected_gene': 'MED24', 'score': 6.05}, {'connected_gene': 'PIR60311', 'score': 0.77}, {'connected_gene': 'KRT10', 'score': 0.44}, {'connected_gene': 'TMEM99', 'score': 0.44}]
chr17	GH17I040994	40994154	40994213	0.68	[{'connected_gene': 'GC17P040995', 'score': 550.77}, {'connected_gene': 'KRTAP3-3', 'score': 550.77}, {'connected_gene': 'KRT23', 'score': 8.39}]
chr17	GH17I040896	40896291	40897444	0.2	[{'connected_gene': 'ENSG00000234477', 'score': 11.09}, {'connected_gene': 'KRT12', 'score': 11.02}, {'connected_gene': 'KRT40', 'score': 9.71}, {'connected_gene': 'KRT28', 'score': 9.52}, {'connected_gene': 'TMEM99', 'score': 9.49}, {'connected_gene': 'KRT26', 'score': 9.15}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'KRT23', 'score': 7.42}, {'connected_gene': 'GC17P040941', 'score': 0.39}, {'connected_gene': 'KRT20', 'score': 0.39}, {'connected_gene': 'GC17P040955', 'score': 0.34}, {'connected_gene': 'LOC105371777', 'score': 0.25}]
chr17	GH17I040931	40931409	40931558	0.43	[{'connected_gene': 'GC17M040929', 'score': 550.77}, {'connected_gene': 'KRT23', 'score': 0.44}, {'connected_gene': 'ENSG00000234477', 'score': 0.39}]
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}]