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
ENST00000301653	[[39766029, 39766281], [39766441, 39766488], [39766582, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767753], [39767890, 39767973], [39768409, 39769005]]	[[39766186, 39766281], [39766441, 39766488], [39766582, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767753], [39767890, 39767973], [39768409, 39768940]]
ENST00000593067	[[39766660, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767753], [39767890, 39767973], [39768409, 39768538], [39769041, 39769151]]	[[39766660, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767653]]
ENST00000588319	[[39768017, 39769017]]	None
ENST00000590990	[[39768794, 39768976], [39771834, 39772151]]	[[39768794, 39768940]]
NM_005557	[[39766029, 39766281], [39766441, 39766488], [39766582, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767753], [39767890, 39767973], [39768409, 39769079]]	[[39766186, 39766281], [39766441, 39766488], [39766582, 39766803], [39767105, 39767231], [39767320, 39767482], [39767596, 39767753], [39767890, 39767973], [39768409, 39768940]]

Promoter

Chrom	Start	End	Description
chr17	39767709	39767719	CAGE_peak_5_at_KRT16_5end
chr17	39768786	39768828	CAGE_peak_2_at_KRT16_5end
chr17	39769009	39769026	CAGE_peak_1_at_KRT16_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I041612	41612506	41613526	1.09	[{'connected_gene': 'KRT16', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 0.31}]
chr17	GH17I041615	41615549	41615698	0.54	[{'connected_gene': 'KRT16', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 0.31}]
chr17	GH17I041559	41559135	41560125	0.68	[{'connected_gene': 'KRT16', 'score': 7.98}, {'connected_gene': 'GC17M041544', 'score': 0.77}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17	GH17I041578	41578874	41589513	1.95	[{'connected_gene': 'KRT14', 'score': 555.67}, {'connected_gene': 'KRT16', 'score': 13.02}, {'connected_gene': 'JUP', 'score': 6.56}, {'connected_gene': 'KRT36', 'score': 6.06}, {'connected_gene': 'KRT9', 'score': 5.75}, {'connected_gene': 'KRT15', 'score': 4.76}, {'connected_gene': 'KRT17', 'score': 4.11}, {'connected_gene': 'KRT13', 'score': 4.01}, {'connected_gene': 'KRT19', 'score': 2.88}]
chr17	GH17I041572	41572049	41572108	0.76	[{'connected_gene': 'KRT9', 'score': 550.77}, {'connected_gene': 'KRT16', 'score': 6.03}, {'connected_gene': 'KRT14', 'score': 0.39}]
chr17	GH17I041791	41791636	41796772	1.7	[{'connected_gene': 'JUP', 'score': 93.77}, {'connected_gene': 'NT5C3B', 'score': 14.29}, {'connected_gene': 'KLHL11', 'score': 11.21}, {'connected_gene': 'KRT15', 'score': 6.89}, {'connected_gene': 'ENSG00000267632', 'score': 5.1}, {'connected_gene': 'TUBG2', 'score': 4.53}, {'connected_gene': 'ACLY', 'score': 4.32}, {'connected_gene': 'KRT19', 'score': 3.99}, {'connected_gene': 'KRT16', 'score': 3.84}, {'connected_gene': 'KRT17', 'score': 3.45}, {'connected_gene': 'KRT9', 'score': 2.29}, {'connected_gene': 'KRT14', 'score': 1.77}, {'connected_gene': 'KRT36', 'score': 1.34}, {'connected_gene': 'PIR32942', 'score': 0.44}, {'connected_gene': 'PIR33798', 'score': 0.37}]
chr17	GH17I041798	41798764	41802238	1.65	[{'connected_gene': 'JUP', 'score': 39.38}, {'connected_gene': 'NT5C3B', 'score': 25.67}, {'connected_gene': 'ENSG00000267758', 'score': 16.39}, {'connected_gene': 'KLHL11', 'score': 11.68}, {'connected_gene': 'KLHL10', 'score': 11.12}, {'connected_gene': 'RETREG3', 'score': 10.69}, {'connected_gene': 'STAT5A', 'score': 10.1}, {'connected_gene': 'LOC108783654', 'score': 10.0}, {'connected_gene': 'CNP', 'score': 9.85}, {'connected_gene': 'TTC25', 'score': 4.51}, {'connected_gene': 'KRT19', 'score': 3.0}, {'connected_gene': 'KRT17', 'score': 2.85}, {'connected_gene': 'KRT15', 'score': 1.67}, {'connected_gene': 'KRT16', 'score': 1.58}, {'connected_gene': 'KRT14', 'score': 1.37}, {'connected_gene': 'PIR33798', 'score': 0.39}, {'connected_gene': 'PIR32942', 'score': 0.39}, {'connected_gene': 'P3H4', 'score': 0.39}]
chr17	GH17I041557	41557145	41557543	0.22	[{'connected_gene': 'GC17M041544', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 21.61}, {'connected_gene': 'KRTAP9-1', 'score': 12.68}, {'connected_gene': 'KRTAP9-9', 'score': 11.79}, {'connected_gene': 'KRT16', 'score': 7.03}, {'connected_gene': 'KRT37', 'score': 4.05}, {'connected_gene': 'KRTAP2-4', 'score': 2.3}, {'connected_gene': 'KRT38', 'score': 2.26}, {'connected_gene': 'KRT35', 'score': 1.97}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17	GH17I041621	41620689	41620838	0.38	[{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'KRT17', 'score': 0.77}, {'connected_gene': 'KRT16', 'score': 0.77}]
chr17	GH17I041622	41620349	41620538	0.38	[{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'KRT17', 'score': 0.77}, {'connected_gene': 'KRT16', 'score': 0.77}]
chr17	GH17I041618	41618489	41619648	0.56	[{'connected_gene': 'GC17M041621', 'score': 550.77}, {'connected_gene': 'ENSG00000259623', 'score': 12.34}, {'connected_gene': 'KRT14', 'score': 11.33}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'KRT19', 'score': 10.11}, {'connected_gene': 'KRT15', 'score': 10.1}, {'connected_gene': 'HSD17B1P1', 'score': 9.91}, {'connected_gene': 'KRT16', 'score': 7.11}, {'connected_gene': 'KRT17', 'score': 0.44}]
chr17	GH17I041649	41649756	41659535	1.64	[{'connected_gene': 'ENSG00000267758', 'score': 25.24}, {'connected_gene': 'JUP', 'score': 20.78}, {'connected_gene': 'HSD17B1', 'score': 20.59}, {'connected_gene': 'DHX58', 'score': 19.59}, {'connected_gene': 'GHDC', 'score': 19.26}, {'connected_gene': 'ENSG00000259623', 'score': 16.31}, {'connected_gene': 'KRT14', 'score': 16.17}, {'connected_gene': 'CNP', 'score': 13.3}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RETREG3', 'score': 12.93}, {'connected_gene': 'KRT37', 'score': 11.39}, {'connected_gene': 'HSD17B1P1', 'score': 11.02}, {'connected_gene': 'NT5C3B', 'score': 10.96}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'COASY', 'score': 10.46}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KAT2A', 'score': 9.79}, {'connected_gene': 'ENSG00000236194', 'score': 6.49}, {'connected_gene': 'KRT17', 'score': 6.03}, {'connected_gene': 'KRT16', 'score': 5.84}, {'connected_gene': 'HAP1', 'score': 5.52}, {'connected_gene': 'KRT42P', 'score': 5.49}, {'connected_gene': 'C17orf113', 'score': 5.42}, {'connected_gene': 'KRT19', 'score': 4.84}, {'connected_gene': 'KRT15', 'score': 2.41}, {'connected_gene': 'KRT9', 'score': 2.02}, {'connected_gene': 'KRT36', 'score': 1.7}, {'connected_gene': 'ENSG00000278954', 'score': 0.39}]