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
ENST00000311208	[[39775688, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39780329, 39780829]]	[[39775845, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39780329, 39780761]]
ENST00000493253	[[39775697, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778763], [39779201, 39779284], [39780329, 39780548]]	None
ENST00000463128	[[39777277, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39780329, 39780458], [39780994, 39781094]]	[[39777277, 39777343], [39777844, 39778006], [39778606, 39778663]]
ENST00000577817	[[39777878, 39778006], [39778606, 39778703], [39779201, 39779284], [39780329, 39780716]]	[[39777878, 39778006], [39778606, 39778703], [39779201, 39779284], [39780329, 39780716]]
ENST00000590038	[[39777913, 39778003], [39778606, 39778763], [39779201, 39779520]]	[[39777913, 39778003], [39778606, 39778663]]
ENST00000491673	[[39779124, 39779284], [39780329, 39780827]]	None
NM_000422	[[39775691, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39780329, 39780882]]	[[39775845, 39775940], [39776787, 39776810], [39776910, 39777131], [39777217, 39777343], [39777844, 39778006], [39778606, 39778763], [39779201, 39779284], [39780329, 39780761]]

Promoter

Chrom	Start	End	Description
chr17	39777054	39777079	CAGE_peak_5_at_KRT17_5end
chr17	39777082	39777104	CAGE_peak_6_at_KRT17_5end
chr17	39779227	39779270	CAGE_peak_3_at_KRT17_5end
chr17	39780530	39780549	CAGE_peak_2_at_KRT17_5end
chr17	39780624	39780631	CAGE_peak_8_at_KRT17_5end
chr17	39780634	39780644	CAGE_peak_4_at_KRT17_5end
chr17	39780819	39780835	CAGE_peak_1_at_KRT17_5end
chr17	39781054	39781073	CAGE_peak_7_at_KRT17_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	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	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	GH17I041634	41634540	41636124	1.05	[{'connected_gene': 'KRT14', 'score': 11.18}, {'connected_gene': 'KRT42P', 'score': 0.77}, {'connected_gene': 'KRT17', '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	GH17I040800	40799629	40799688	0.5	[{'connected_gene': 'LOC105371776', 'score': 550.77}, {'connected_gene': 'KRT28', 'score': 550.77}, {'connected_gene': 'KRT17', 'score': 550.03}, {'connected_gene': 'GC17M040770', 'score': 0.44}, {'connected_gene': 'GC17P040784', 'score': 0.37}]
chr17	GH17I040799	40799942	40800001	0.5	[{'connected_gene': 'LOC105371776', 'score': 550.77}, {'connected_gene': 'KRT28', 'score': 550.77}, {'connected_gene': 'KRT17', 'score': 550.03}, {'connected_gene': 'GC17M040770', 'score': 0.44}]
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}]