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
ENST00000377755	[[39133967, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380], [39140078, 39140560]]	[[39134448, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380], [39140078, 39140525]]
ENST00000461923	[[39133967, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137576], [39138558, 39138715], [39139297, 39139380], [39140078, 39140526], [39142555, 39142626], [39143173, 39143253]]	[[39137552, 39137576], [39138558, 39138715], [39139297, 39139380]]
ENST00000398486	[[39134133, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380], [39140078, 39140526], [39142555, 39142626], [39143298, 39143387]]	[[39134448, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380]]
NM_182497	[[39133967, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380], [39140078, 39140526], [39142555, 39142626], [39143298, 39143387]]	[[39134448, 39134548], [39135055, 39135276], [39137036, 39137162], [39137241, 39137403], [39138558, 39138715], [39139297, 39139380]]

Promoter

Chrom	Start	End	Description
chr17	39140393	39140399	CAGE_peak_3_at_KRT40_5end
chr17	39140411	39140419	CAGE_peak_5_at_KRT40_5end
chr17	39140424	39140431	CAGE_peak_4_at_KRT40_5end
chr17	39140549	39140579	CAGE_peak_1_at_KRT40_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	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	GH17I041352	41352992	41353325	0.66	[{'connected_gene': 'KRTAP2-1', 'score': 12.89}, {'connected_gene': 'KRTAP9-1', 'score': 9.33}, {'connected_gene': 'KRTAP2-2', 'score': 9.26}, {'connected_gene': 'KRTAP9-2', 'score': 8.89}, {'connected_gene': 'KRTAP9-9', 'score': 8.32}, {'connected_gene': 'KRT37', 'score': 4.16}, {'connected_gene': 'KRT40', 'score': 2.89}, {'connected_gene': 'KRTAP2-4', 'score': 1.96}, {'connected_gene': 'KRT35', 'score': 1.57}, {'connected_gene': 'KRT38', 'score': 1.52}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'KRT33B', 'score': 0.37}]
chr17	GH17I040980	40980187	40981348	0.58	[{'connected_gene': 'KRT39', 'score': 12.75}, {'connected_gene': 'KRT40', 'score': 7.27}]
chr17	GH17I040966	40966938	40966997	0.5	[{'connected_gene': 'KRT39', 'score': 550.77}, {'connected_gene': 'KRT40', 'score': 0.34}, {'connected_gene': 'ENSG00000234477', 'score': 0.25}]
chr17	GH17I041620	41620949	41627446	1.63	[{'connected_gene': 'KRT17', 'score': 554.56}, {'connected_gene': 'GC17M041622', 'score': 550.77}, {'connected_gene': 'GC17M041625', 'score': 550.77}, {'connected_gene': 'KRT9', 'score': 16.59}, {'connected_gene': 'KRT15', 'score': 13.38}, {'connected_gene': 'KRT14', 'score': 12.71}, {'connected_gene': 'KRT19', 'score': 12.27}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'ENSG00000234477', 'score': 9.37}, {'connected_gene': 'KRT37', 'score': 9.35}, {'connected_gene': 'KRT16', 'score': 7.62}, {'connected_gene': 'KRT36', 'score': 5.04}, {'connected_gene': 'JUP', 'score': 4.69}, {'connected_gene': 'CNP', 'score': 4.3}, {'connected_gene': 'RAB5C', 'score': 3.96}, {'connected_gene': 'KRT13', 'score': 1.59}, {'connected_gene': 'KRT42P', 'score': 0.37}]
chr17	GH17I041631	41631018	41632265	0.43	[{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.41}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', 'score': 0.44}]
chr17	GH17I041629	41629992	41630826	0.59	[{'connected_gene': 'KRT14', 'score': 11.26}, {'connected_gene': 'KRT9', 'score': 11.18}, {'connected_gene': 'KRT40', 'score': 9.78}, {'connected_gene': 'KRT37', 'score': 9.09}, {'connected_gene': 'KRT17', 'score': 0.44}, {'connected_gene': 'KRT42P', '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	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	GH17I041333	41333787	41335553	0.51	[{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 36.98}, {'connected_gene': 'KRTAP29-1', 'score': 11.12}, {'connected_gene': 'KRT31', 'score': 10.35}, {'connected_gene': 'LOC100505782', 'score': 10.35}, {'connected_gene': 'KRT37', 'score': 9.72}, {'connected_gene': 'ENSG00000234477', 'score': 9.55}, {'connected_gene': 'KRT40', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.37}]
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	GH17I041336	41336169	41336318	0.31	[{'connected_gene': 'ENSG00000108516', 'score': 550.77}, {'connected_gene': 'KRTAP29-1', 'score': 10.48}, {'connected_gene': 'KRTAP16-1', 'score': 10.37}, {'connected_gene': 'KRTAP17-1', 'score': 10.27}, {'connected_gene': 'KRTAP9-6', 'score': 10.1}, {'connected_gene': 'KRT31', 'score': 10.04}, {'connected_gene': 'KRT37', 'score': 10.03}, {'connected_gene': 'LOC100505782', 'score': 10.03}, {'connected_gene': 'ENSG00000234477', 'score': 9.95}, {'connected_gene': 'KRT32', 'score': 9.83}, {'connected_gene': 'RNU2-32P', 'score': 9.83}, {'connected_gene': 'KRTAP1-1', 'score': 9.82}, {'connected_gene': 'KRTAP1-4', 'score': 9.82}, {'connected_gene': 'KRTAP1-3', 'score': 9.81}, {'connected_gene': 'KRT40', 'score': 9.42}, {'connected_gene': 'KRTAP2-5P', 'score': 9.37}, {'connected_gene': 'KRTAP2-4', 'score': 9.36}, {'connected_gene': 'KRT33A', 'score': 0.39}]