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
ENST00000251413	[[40761693, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40766016], [40766277, 40766430], [40766513, 40766675], [40766861, 40767252]]	[[40761755, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40766016], [40766277, 40766430], [40766513, 40766675], [40766861, 40767059]]
ENST00000588056	[[40761703, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764284]]	None
ENST00000591509	[[40761703, 40761804], [40762125, 40762238], [40762440, 40762647], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40765929]]	[[40761755, 40761804], [40762125, 40762238], [40762440, 40762647], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40765929]]
ENST00000589688	[[40761706, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764964, 40765091], [40765664, 40765751], [40765866, 40766016], [40766277, 40766430], [40766513, 40766675], [40766861, 40767239]]	[[40761755, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764964, 40764973]]
ENST00000589613	[[40761733, 40761804], [40762440, 40763285]]	None
NM_001070	[[40761357, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40766016], [40766277, 40766430], [40766513, 40766675], [40766861, 40767256]]	[[40761755, 40761804], [40762125, 40762238], [40762440, 40762608], [40764092, 40764161], [40764444, 40764524], [40764964, 40765091], [40765664, 40765751], [40765866, 40766016], [40766277, 40766430], [40766513, 40766675], [40766861, 40767059]]

Promoter

Chrom	Start	End	Description
chr17	40761428	40761450	CAGE_peak_2_at_TUBG1_5end
chr17	40761454	40761470	CAGE_peak_3_at_TUBG1_5end
chr17	40761660	40761748	CAGE_peak_1_at_TUBG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042665	42665129	42666333	0.43	[{'connected_gene': 'CNTNAP1', 'score': 24.49}, {'connected_gene': 'TUBG1', 'score': 11.58}, {'connected_gene': 'RETREG3', 'score': 11.58}, {'connected_gene': 'TUBG2', 'score': 6.79}, {'connected_gene': 'PIR45597', 'score': 0.77}]
chr17	GH17I042672	42672991	42684404	2.34	[{'connected_gene': 'CNTNAP1', 'score': 604.71}, {'connected_gene': 'CCR10', 'score': 564.56}, {'connected_gene': 'PLEKHH3', 'score': 561.08}, {'connected_gene': 'ENSG00000267042', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 42.87}, {'connected_gene': 'HSD17B1P1', 'score': 29.16}, {'connected_gene': 'ENSG00000267002', 'score': 23.73}, {'connected_gene': 'HMGN1P29', 'score': 23.64}, {'connected_gene': 'HMGN2P15', 'score': 21.54}, {'connected_gene': 'ENSG00000259623', 'score': 21.53}, {'connected_gene': 'DHX8', 'score': 21.5}, {'connected_gene': 'HSD17B1', 'score': 21.18}, {'connected_gene': 'MLX', 'score': 21.09}, {'connected_gene': 'ENSG00000267340', 'score': 20.51}, {'connected_gene': 'NBR2', 'score': 20.27}, {'connected_gene': 'ENSG00000267765', 'score': 19.56}, {'connected_gene': 'LOC108783654', 'score': 18.43}, {'connected_gene': 'NKIRAS2', 'score': 15.46}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000267758', 'score': 14.06}, {'connected_gene': 'LINC00910', 'score': 13.17}, {'connected_gene': 'RPL27', 'score': 12.31}, {'connected_gene': 'PSMC3IP', 'score': 11.85}, {'connected_gene': 'TUBG1', 'score': 11.82}, {'connected_gene': 'RETREG3', 'score': 11.82}, {'connected_gene': 'KAT2A', 'score': 11.65}, {'connected_gene': 'CAVIN1', 'score': 11.63}, {'connected_gene': 'GHDC', 'score': 11.46}, {'connected_gene': 'RAMP2', 'score': 11.4}, {'connected_gene': 'RAMP2-AS1', 'score': 11.39}, {'connected_gene': 'VPS25', 'score': 11.37}, {'connected_gene': 'STAT3', 'score': 10.53}, {'connected_gene': 'NAGLU', 'score': 10.26}, {'connected_gene': 'RND2', 'score': 9.97}, {'connected_gene': 'STAT5A', 'score': 9.97}, {'connected_gene': 'FKBP10', 'score': 9.68}, {'connected_gene': 'GC17M042684', 'score': 0.44}]
chr17	GH17I042666	42666441	42668501	1.22	[{'connected_gene': 'CNTNAP1', 'score': 21.49}, {'connected_gene': 'TUBG2', 'score': 18.54}, {'connected_gene': 'TUBG1', 'score': 11.9}, {'connected_gene': 'RETREG3', 'score': 11.9}, {'connected_gene': 'PSMC3IP', 'score': 11.87}, {'connected_gene': 'HMGN2P15', 'score': 11.35}, {'connected_gene': 'RAMP2', 'score': 11.34}, {'connected_gene': 'RAMP2-AS1', 'score': 11.34}, {'connected_gene': 'VPS25', 'score': 11.33}, {'connected_gene': 'PIR45597', 'score': 0.77}, {'connected_gene': 'PLEKHH3', 'score': 0.44}]
chr17	GH17I042607	42607776	42610897	2.04	[{'connected_gene': 'TUBG1', 'score': 550.77}, {'connected_gene': 'RETREG3', 'score': 550.77}, {'connected_gene': 'PIR53494', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 21.11}, {'connected_gene': 'DHX8', 'score': 19.0}, {'connected_gene': 'ENSG00000267758', 'score': 16.36}, {'connected_gene': 'HMGN1P29', 'score': 12.4}, {'connected_gene': 'PSMC3IP', 'score': 12.06}, {'connected_gene': 'STAT5A', 'score': 10.47}, {'connected_gene': 'PSME3', 'score': 10.29}, {'connected_gene': 'VPS25', 'score': 10.22}, {'connected_gene': 'LINC00910', 'score': 10.07}, {'connected_gene': 'HSD17B1', 'score': 7.86}, {'connected_gene': 'NAGLU', 'score': 6.45}, {'connected_gene': 'HSD17B1P1', 'score': 6.08}, {'connected_gene': 'ENSG00000280183', 'score': 0.39}]
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	GH17I042660	42660284	42661756	1.06	[{'connected_gene': 'TUBG2', 'score': 570.61}, {'connected_gene': 'MLX', 'score': 23.88}, {'connected_gene': 'TUBG1', 'score': 11.0}, {'connected_gene': 'RETREG3', 'score': 11.0}, {'connected_gene': 'PIR45597', 'score': 0.44}]
chr17	GH17I042703	42703924	42705477	0.8	[{'connected_gene': 'RETREG3', 'score': 11.23}, {'connected_gene': 'TUBG1', 'score': 11.23}, {'connected_gene': 'CNTD1', 'score': 10.84}, {'connected_gene': 'COA3', 'score': 10.84}, {'connected_gene': 'MIR6780A', 'score': 0.77}, {'connected_gene': 'GC17M042693', 'score': 0.77}, {'connected_gene': 'EZH1', 'score': 0.26}]
chr17	GH17I042706	42706626	42707072	0.49	[{'connected_gene': 'MIR6780A', 'score': 550.77}, {'connected_gene': 'TUBG1', 'score': 11.23}, {'connected_gene': 'RETREG3', 'score': 11.23}, {'connected_gene': 'CNTD1', 'score': 10.84}, {'connected_gene': 'COA3', 'score': 10.84}, {'connected_gene': 'TUBG2', 'score': 8.22}, {'connected_gene': 'GC17M042693', 'score': 0.77}, {'connected_gene': 'EZH1', 'score': 0.28}]
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	GH17I042669	42669322	42672729	0.97	[{'connected_gene': 'PIR45597', 'score': 550.77}, {'connected_gene': 'PSMC3IP', 'score': 11.86}, {'connected_gene': 'TUBG1', 'score': 11.82}, {'connected_gene': 'RETREG3', 'score': 11.82}, {'connected_gene': 'HMGN2P15', 'score': 11.36}, {'connected_gene': 'RAMP2', 'score': 11.35}, {'connected_gene': 'RAMP2-AS1', 'score': 11.34}, {'connected_gene': 'VPS25', 'score': 11.33}, {'connected_gene': 'TUBG2', 'score': 7.55}, {'connected_gene': 'NAGLU', 'score': 6.36}, {'connected_gene': 'NBR2', 'score': 4.18}, {'connected_gene': 'PLEKHH3', 'score': 0.44}]
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}]