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
ENST00000394001	[[39533901, 39534398], [39535207, 39535428], [39535604, 39535730], [39535821, 39535983], [39537307, 39537464], [39537964, 39538047], [39538150, 39538655]]	[[39534310, 39534398], [39535207, 39535428], [39535604, 39535730], [39535821, 39535983], [39537307, 39537464], [39537964, 39538047], [39538150, 39538624]]
NM_021013	[[39533920, 39534398], [39535207, 39535428], [39535604, 39535730], [39535821, 39535983], [39537307, 39537464], [39537964, 39538047], [39538150, 39538636]]	[[39534310, 39534398], [39535207, 39535428], [39535604, 39535730], [39535821, 39535983], [39537307, 39537464], [39537964, 39538047], [39538150, 39538624]]

Promoter

Chrom	Start	End	Description
chr17	39538550	39538565	CAGE_peak_1_at_KRT34_5end
chr17	39538756	39538771	CAGE_peak_2_at_KRT34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I041492	41492311	41493466	0.79	[{'connected_gene': 'KRT36', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 5.5}, {'connected_gene': 'KRT38', 'score': 5.01}, {'connected_gene': 'KRT35', 'score': 0.39}]
chr17	GH17I041391	41391597	41392379	0.31	[{'connected_gene': 'KRT38', 'score': 9.26}, {'connected_gene': 'TOP2A', 'score': 4.12}, {'connected_gene': 'KRT34', 'score': 0.44}, {'connected_gene': 'KRT31', 'score': 0.44}]
chr17	GH17I041392	41392746	41392947	0.2	[{'connected_gene': 'KRT38', 'score': 7.86}, {'connected_gene': 'KRT31', 'score': 0.77}, {'connected_gene': 'KRT34', '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	GH17I041133	41133616	41135038	0.31	[{'connected_gene': 'KRTAP2-3', 'score': 10.6}, {'connected_gene': 'KRTAP4-4', 'score': 10.46}, {'connected_gene': 'KRTAP4-3', 'score': 10.45}, {'connected_gene': 'KRTAP1-4', 'score': 10.18}, {'connected_gene': 'KRTAP1-5', 'score': 10.1}, {'connected_gene': 'KRT34', 'score': 9.39}, {'connected_gene': 'KRTAP4-6', 'score': 8.6}, {'connected_gene': 'ENSG00000266208', 'score': 4.33}, {'connected_gene': 'GC17P041125', 'score': 0.44}]
chr17	GH17I041377	41377204	41382734	0.76	[{'connected_gene': 'KRT34', 'score': 42.19}, {'connected_gene': 'KRT38', 'score': 19.33}, {'connected_gene': 'KRT32', 'score': 12.99}, {'connected_gene': 'KRT36', 'score': 6.64}, {'connected_gene': 'KRT33B', 'score': 0.39}]
chr17	GH17I041360	41360235	41361378	0.66	[{'connected_gene': 'KRT34', 'score': 26.9}, {'connected_gene': 'KRT33B', 'score': 0.44}, {'connected_gene': 'KRT33A', 'score': 0.44}]
chr17	GH17I041414	41414948	41421905	1.1	[{'connected_gene': 'KRT34', 'score': 37.98}, {'connected_gene': 'KRT32', 'score': 17.5}, {'connected_gene': 'KRT38', 'score': 8.95}, {'connected_gene': 'KRT36', 'score': 6.99}, {'connected_gene': 'KRT31', 'score': 6.63}, {'connected_gene': 'KRT37', 'score': 0.44}, {'connected_gene': 'KRT41P', 'score': 0.44}, {'connected_gene': 'LOC100505782', 'score': 0.37}]
chr17	GH17I041393	41392409	41392578	0.2	[{'connected_gene': 'KRT34', 'score': 0.44}, {'connected_gene': 'KRT31', 'score': 0.44}]
chr17	GH17I041464	41464048	41465518	0.64	[{'connected_gene': 'KRT32', 'score': 17.46}, {'connected_gene': 'LOC100505782', 'score': 6.12}, {'connected_gene': 'KRT34', 'score': 6.07}, {'connected_gene': 'GC17P041468', 'score': 0.77}, {'connected_gene': 'KRT43P', 'score': 0.39}]
chr17	GH17I040817	40817824	40821220	1.98	[{'connected_gene': 'TMEM99', 'score': 566.49}, {'connected_gene': 'KRT34', 'score': 6.36}, {'connected_gene': 'MED24', 'score': 6.06}, {'connected_gene': 'KRT13', 'score': 4.89}, {'connected_gene': 'KRT10', 'score': 0.77}, {'connected_gene': 'GC17P040810', 'score': 0.44}]
chr17	GH17I040546	40546965	40567241	2.35	[{'connected_gene': 'CCR7', 'score': 568.72}, {'connected_gene': 'PIR43413', 'score': 550.77}, {'connected_gene': 'SNORD124', 'score': 23.37}, {'connected_gene': 'SMARCE1', 'score': 12.92}, {'connected_gene': 'TOP2A', 'score': 11.79}, {'connected_gene': 'IGFBP4', 'score': 5.8}, {'connected_gene': 'ENSG00000266088', 'score': 4.86}, {'connected_gene': 'KRTAP3-2', 'score': 4.83}, {'connected_gene': 'KRT34', 'score': 4.54}, {'connected_gene': 'GJD3', 'score': 2.94}, {'connected_gene': 'CASC3', 'score': 2.12}, {'connected_gene': 'KRTAP2-1', 'score': 1.35}, {'connected_gene': 'KRTAP1-5', 'score': 1.33}, {'connected_gene': 'WIPF2', 'score': 1.33}, {'connected_gene': 'MED24', 'score': 1.17}, {'connected_gene': 'GC17P040564', 'score': 0.44}, {'connected_gene': 'GC17M040528', 'score': 0.44}]
chr17	GH17I041401	41401957	41405386	1.15	[{'connected_gene': 'LOC100505782', 'score': 550.77}, {'connected_gene': 'KRT34', 'score': 38.24}, {'connected_gene': 'KRT38', 'score': 18.08}, {'connected_gene': 'ENSG00000267758', 'score': 11.28}, {'connected_gene': 'KRT36', 'score': 6.85}, {'connected_gene': 'KRT41P', 'score': 0.44}]
chr17	GH17I041499	41499613	41500932	1.52	[{'connected_gene': 'ENSG00000229732', 'score': 550.77}, {'connected_gene': 'KRTAP2-1', 'score': 7.15}, {'connected_gene': 'KRTAP9-2', 'score': 5.39}, {'connected_gene': 'KRT38', 'score': 5.38}, {'connected_gene': 'KRTAP2-2', 'score': 5.25}, {'connected_gene': 'KRTAP9-1', 'score': 5.17}, {'connected_gene': 'KRTAP9-9', 'score': 4.78}, {'connected_gene': 'KRT34', 'score': 4.16}, {'connected_gene': 'KRT37', 'score': 2.64}, {'connected_gene': 'KRTAP2-4', 'score': 1.58}, {'connected_gene': 'KRT36', 'score': 0.44}]
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}]