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
ENST00000590836	[[41132581, 41134020]]	None
ENST00000361677	[[41132581, 41133091], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41145707]]	[[41132593, 41133091], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41143733]]
ENST00000589705	[[41132597, 41133091], [41139272, 41139431], [41142333, 41142453], [41142867, 41143053]]	[[41132597, 41133091], [41139272, 41139431], [41142333, 41142453], [41142867, 41142885]]
NM_173079	[[41132578, 41133091], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41145709]]	[[41132593, 41133091], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41143733]]
NM_001321381	[[41132578, 41133091], [41137667, 41137673], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41145709]]	[[41132593, 41133091], [41137667, 41137673], [41139272, 41139431], [41141357, 41141556], [41142333, 41142453], [41142867, 41143733]]

Promoter

Chrom	Start	End	Description
chr17	41132564	41132600	CAGE_peak_1_at_RUNDC1_5end
chr17	41132916	41132928	CAGE_peak_2_at_RUNDC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042885	42885967	42887269	1.35	[{'connected_gene': 'GHDC', 'score': 10.61}, {'connected_gene': 'CNTD1', 'score': 10.17}, {'connected_gene': 'COA3', 'score': 10.17}, {'connected_gene': 'MLX', 'score': 7.5}, {'connected_gene': 'STAT3', 'score': 7.21}, {'connected_gene': 'EZH1', 'score': 3.68}, {'connected_gene': 'NBR1', 'score': 3.6}, {'connected_gene': 'BECN1', 'score': 2.57}, {'connected_gene': 'RUNDC1', 'score': 2.12}, {'connected_gene': 'TMEM106A', 'score': 1.42}, {'connected_gene': 'RNU6-287P', 'score': 0.77}, {'connected_gene': 'LINC00671', 'score': 0.39}, {'connected_gene': 'GC17M042880', 'score': 0.39}, {'connected_gene': 'AOC4P', 'score': 0.34}]
chr17	GH17I042584	42584915	42585632	0.4	[{'connected_gene': 'TUBG2', 'score': 32.5}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.71}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.77}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17	GH17I042586	42586256	42588262	0.49	[{'connected_gene': 'TUBG2', 'score': 33.35}, {'connected_gene': 'TUBG1', 'score': 11.74}, {'connected_gene': 'RETREG3', 'score': 11.74}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CNTD1', 'score': 10.05}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'PIR42459', 'score': 0.44}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
chr17	GH17I042982	42982093	42982473	0.46	[{'connected_gene': 'RUNDC1', 'score': 550.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 550.77}, {'connected_gene': 'PTGES3L', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 21.29}, {'connected_gene': 'IFI35', 'score': 5.73}, {'connected_gene': 'PIR51537', 'score': 0.44}]
chr17	GH17I042823	42823221	42824933	2.04	[{'connected_gene': 'MIR6781', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 550.44}, {'connected_gene': 'CNTD1', 'score': 11.97}, {'connected_gene': 'COA3', 'score': 11.97}, {'connected_gene': 'AOC2', 'score': 11.76}, {'connected_gene': 'AOC3', 'score': 11.73}, {'connected_gene': 'VPS25', 'score': 11.55}, {'connected_gene': 'RAMP2-AS1', 'score': 11.53}, {'connected_gene': 'RAMP2', 'score': 11.52}, {'connected_gene': 'HMGN2P15', 'score': 11.51}, {'connected_gene': 'WNK4', 'score': 11.41}, {'connected_gene': 'AARSD1', 'score': 11.15}, {'connected_gene': 'RUNDC1', 'score': 11.14}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.14}]
chr17	GH17I042984	42984002	42986400	0.86	[{'connected_gene': 'NBR2', 'score': 21.64}, {'connected_gene': 'RPL27', 'score': 8.61}, {'connected_gene': 'TUBG2', 'score': 5.06}, {'connected_gene': 'RUNDC1', 'score': 0.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.77}, {'connected_gene': 'PTGES3L', 'score': 0.77}, {'connected_gene': 'PIR51537', 'score': 0.44}]
chr17	GH17I042953	42953310	42954460	0.49	[{'connected_gene': 'NBR2', 'score': 25.28}, {'connected_gene': 'RPL27', 'score': 20.12}, {'connected_gene': 'RUNDC1', 'score': 12.65}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 12.65}, {'connected_gene': 'AOC3', 'score': 11.75}, {'connected_gene': 'AOC2', 'score': 11.75}, {'connected_gene': 'CNTD1', 'score': 10.64}, {'connected_gene': 'COA3', 'score': 10.64}, {'connected_gene': 'IFI35', 'score': 5.59}, {'connected_gene': 'GC17P043418', 'score': 0.77}, {'connected_gene': 'AARSD1', 'score': 0.39}]
chr17	GH17I043010	43010125	43012345	1.41	[{'connected_gene': 'NBR2', 'score': 21.31}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.76}, {'connected_gene': 'MLX', 'score': 9.26}, {'connected_gene': 'CNTD1', 'score': 8.84}, {'connected_gene': 'RPL29P31', 'score': 5.58}, {'connected_gene': 'NBR1', 'score': 5.29}, {'connected_gene': 'ETV4', 'score': 1.37}, {'connected_gene': 'TUBG1', 'score': 1.35}, {'connected_gene': 'IFI35', 'score': 0.77}, {'connected_gene': 'VAT1', 'score': 0.39}]
chr17	GH17I043014	43014025	43016590	0.63	[{'connected_gene': 'NBR2', 'score': 24.93}, {'connected_gene': 'RUNDC1', 'score': 11.8}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.8}, {'connected_gene': 'AARSD1', 'score': 11.74}, {'connected_gene': 'IFI35', 'score': 5.93}, {'connected_gene': 'VAT1', 'score': 0.44}]
chr17	GH17I042979	42979100	42982024	2.04	[{'connected_gene': 'PTGES3L', 'score': 555.42}, {'connected_gene': 'RUNDC1', 'score': 550.77}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 550.77}, {'connected_gene': 'HMGN2P15', 'score': 10.22}, {'connected_gene': 'RPL27', 'score': 8.26}, {'connected_gene': 'IFI35', 'score': 6.26}, {'connected_gene': 'AARSD1', 'score': 4.88}, {'connected_gene': 'PIR51537', 'score': 0.39}]
chr17	GH17I042576	42576074	42580294	2.09	[{'connected_gene': 'GC17P042577', 'score': 550.77}, {'connected_gene': 'GC17P042580', 'score': 550.77}, {'connected_gene': 'PSMC3IP', 'score': 550.77}, {'connected_gene': 'DHX8', 'score': 47.64}, {'connected_gene': 'HMGN1P29', 'score': 41.74}, {'connected_gene': 'ENSG00000267758', 'score': 38.18}, {'connected_gene': 'TUBG2', 'score': 32.02}, {'connected_gene': 'NBR2', 'score': 26.13}, {'connected_gene': 'MLX', 'score': 24.12}, {'connected_gene': 'STAT5A', 'score': 21.97}, {'connected_gene': 'LINC00910', 'score': 21.48}, {'connected_gene': 'CNTNAP1', 'score': 21.16}, {'connected_gene': 'CNTD1', 'score': 20.29}, {'connected_gene': 'KLHL10', 'score': 15.57}, {'connected_gene': 'NAGLU', 'score': 15.08}, {'connected_gene': 'COASY', 'score': 13.89}, {'connected_gene': 'TUBG1', 'score': 11.69}, {'connected_gene': 'RETREG3', 'score': 11.69}, {'connected_gene': 'LINC00854', 'score': 11.68}, {'connected_gene': 'GHDC', 'score': 11.47}, {'connected_gene': 'DHX58', 'score': 11.43}, {'connected_gene': 'NBR1', 'score': 11.22}, {'connected_gene': 'KLHL11', 'score': 10.85}, {'connected_gene': 'AARSD1', 'score': 10.32}, {'connected_gene': 'RUNDC1', 'score': 10.32}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.32}, {'connected_gene': 'CAVIN1', 'score': 10.29}, {'connected_gene': 'PSME3', 'score': 10.28}, {'connected_gene': 'LOC108783654', 'score': 10.28}, {'connected_gene': 'VPS25', 'score': 10.21}, {'connected_gene': 'COA3', 'score': 10.05}, {'connected_gene': 'LINC00671', 'score': 5.5}]
chr17	GH17I042596	42596925	42597208	0.34	[{'connected_gene': 'ENSG00000280183', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 11.58}, {'connected_gene': 'HMGN2P15', 'score': 11.05}, {'connected_gene': 'RAMP2-AS1', 'score': 11.04}, {'connected_gene': 'RAMP2', 'score': 11.04}, {'connected_gene': 'VPS25', 'score': 11.04}, {'connected_gene': 'WNK4', 'score': 10.28}, {'connected_gene': 'AARSD1', 'score': 10.21}, {'connected_gene': 'RUNDC1', 'score': 10.21}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.21}, {'connected_gene': 'CNTD1', 'score': 10.14}, {'connected_gene': 'COA3', 'score': 10.14}, {'connected_gene': 'RNU7-97P', 'score': 9.68}, {'connected_gene': 'NAGLU', 'score': 5.79}, {'connected_gene': 'STAT5B', 'score': 2.99}, {'connected_gene': 'STAT3', 'score': 2.25}, {'connected_gene': 'RETREG3', 'score': 0.39}, {'connected_gene': 'PIR42459', 'score': 0.37}]
chr17	GH17I042988	42988640	42991915	0.64	[{'connected_gene': 'PIR53885', 'score': 550.77}, {'connected_gene': 'PIR51537', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 24.54}, {'connected_gene': 'RPL27', 'score': 8.34}, {'connected_gene': 'RUNDC1', 'score': 0.44}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 0.44}, {'connected_gene': 'PTGES3L', 'score': 0.44}]