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
ENST00000254043	[[39669994, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39678665]]	[[39670274, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39675079]]
ENST00000393974	[[39669996, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39677271]]	[[39670274, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674667]]
ENST00000393981	[[39669997, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674716]]	[[39671719, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674667]]
ENST00000393976	[[39669997, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39675262], [39675596, 39676124], [39677936, 39677971]]	[[39670274, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39675079]]
ENST00000474031	[[39669997, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674713], [39677936, 39678026]]	None
ENST00000586794	[[39670008, 39670372], [39670900, 39671006]]	None
ENST00000458290	[[39671813, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674713], [39678586, 39678781]]	[[39671813, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39674581, 39674667]]
ENST00000463447	[[39672136, 39672262], [39672355, 39672517], [39673059, 39673417], [39674581, 39674713], [39677936, 39678035]]	None
ENST00000497016	[[39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39674713], [39675916, 39676124], [39677936, 39678153]]	[[39673139, 39673216], [39673334, 39673417], [39674581, 39674667]]
ENST00000470004	[[39673059, 39673216], [39673334, 39673417], [39673588, 39673861], [39674581, 39674713], [39677936, 39678071]]	[[39673797, 39673861], [39674581, 39674667]]
NM_002275	[[39669996, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39675270]]	[[39670274, 39670372], [39670900, 39670926], [39671723, 39671944], [39672136, 39672262], [39672355, 39672517], [39673059, 39673216], [39673334, 39673417], [39674581, 39675079]]

Promoter

Chrom	Start	End	Description
chr17	39674668	39674681	CAGE_peak_8_at_KRT15_5end
chr17	39674800	39674821	CAGE_peak_5_at_KRT15_5end
chr17	39675131	39675148	CAGE_peak_1_at_KRT15_5end
chr17	39678008	39678038	CAGE_peak_2_at_KRT15_5end
chr17	39678062	39678076	CAGE_peak_6_at_KRT15_5end
chr17	39678082	39678085	CAGE_peak_15_at_KRT15_5end
chr17	39678090	39678101	CAGE_peak_4_at_KRT15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH17I041546	41546713	41550636	1.44	[{'connected_gene': 'SMARCE1', 'score': 26.43}, {'connected_gene': 'ENSG00000267758', 'score': 21.72}, {'connected_gene': 'KLHL10', 'score': 13.29}, {'connected_gene': 'KRT14', 'score': 11.69}, {'connected_gene': 'STAT5A', 'score': 10.72}, {'connected_gene': 'ACLY', 'score': 10.23}, {'connected_gene': 'CAVIN1', 'score': 10.21}, {'connected_gene': 'NAGLU', 'score': 9.79}, {'connected_gene': 'KRT15', 'score': 6.36}, {'connected_gene': 'LINC00974', 'score': 5.76}, {'connected_gene': 'GC17M041544', 'score': 0.44}, {'connected_gene': 'KRT19', 'score': 0.34}]
chr17	GH17I041518	41518469	41532039	2.8	[{'connected_gene': 'KRT19', 'score': 562.19}, {'connected_gene': 'KRT15', 'score': 556.16}, {'connected_gene': 'ENSG00000267758', 'score': 25.12}, {'connected_gene': 'SMARCE1', 'score': 21.17}, {'connected_gene': 'ACLY', 'score': 11.64}, {'connected_gene': 'DHX58', 'score': 11.19}, {'connected_gene': 'KRT36', 'score': 11.12}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'KRT14', 'score': 10.86}, {'connected_gene': 'STAT5A', 'score': 10.08}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.7}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRTAP9-2', 'score': 2.53}, {'connected_gene': 'KRTAP2-1', 'score': 2.23}, {'connected_gene': 'KRTAP2-2', 'score': 1.8}, {'connected_gene': 'KRTAP9-9', 'score': 1.75}, {'connected_gene': 'KRTAP9-1', 'score': 1.75}, {'connected_gene': 'KRTAP4-11', 'score': 1.59}, {'connected_gene': 'JUP', 'score': 1.55}]
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	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	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	GH17I041519	41518249	41518398	0.58	[{'connected_gene': 'MIR6510', 'score': 550.77}, {'connected_gene': 'KRT19', 'score': 8.88}, {'connected_gene': 'KRT15', 'score': 0.77}]
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}]