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
ENST00000355653	[[41166621, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41173952, 41174435]]	[[41168077, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41173952, 41174339]]
ENST00000592388	[[41166623, 41166890], [41167957, 41168161], [41168323, 41168330]]	[[41168077, 41168161], [41168323, 41168330]]
ENST00000587173	[[41167915, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41174156, 41174373]]	[[41168077, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41174156, 41174339]]
ENST00000420567	[[41167934, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41172159, 41172290]]	[[41168077, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170801]]
ENST00000587147	[[41168083, 41168565], [41169857, 41169947], [41170052, 41170062]]	[[41168287, 41168565], [41169857, 41169947], [41170052, 41170062]]
ENST00000590924	[[41169848, 41169947], [41170052, 41170223], [41170608, 41170816], [41177005, 41177140]]	[[41169848, 41169947], [41170052, 41170223], [41170608, 41170801]]
ENST00000589709	[[41169858, 41169947], [41170052, 41170223], [41170608, 41170816], [41171470, 41171572]]	[[41169858, 41169947], [41170052, 41170223], [41170608, 41170801]]
ENST00000589828	[[41170138, 41170223], [41170608, 41171044]]	[[41170138, 41170223], [41170608, 41170801]]
ENST00000587062	[[41170765, 41170816], [41173952, 41174367], [41177005, 41177139]]	[[41170765, 41170816], [41173952, 41174339]]
NM_006373	[[41166621, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41173952, 41174459]]	[[41168077, 41168161], [41168323, 41168565], [41169857, 41169947], [41170052, 41170223], [41170608, 41170816], [41173952, 41174339]]

Promoter

Chrom	Start	End	Description
chr17	41174343	41174356	CAGE_peak_3_at_VAT1_5end
chr17	41174367	41174418	CAGE_peak_1_at_VAT1_5end
chr17	41174424	41174447	CAGE_peak_2_at_VAT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042925	42925001	42925200	0.2	[{'connected_gene': 'AOC3', 'score': 12.1}, {'connected_gene': 'AOC2', 'score': 12.09}, {'connected_gene': 'CNTD1', 'score': 10.81}, {'connected_gene': 'COA3', 'score': 10.81}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'BECN1', 'score': 4.77}, {'connected_gene': 'RNY4P2', 'score': 0.44}, {'connected_gene': 'GC17M042933', 'score': 0.44}, {'connected_gene': 'G6PC', 'score': 0.34}]
chr17	GH17I042817	42817963	42818112	0.2	[{'connected_gene': 'VPS25', 'score': 11.86}, {'connected_gene': 'RAMP2', 'score': 11.82}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'HMGN2P15', 'score': 11.81}, {'connected_gene': 'WNK4', 'score': 11.25}, {'connected_gene': 'AOC2', 'score': 11.09}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'MIR6781', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.37}]
chr17	GH17I042820	42820063	42820232	0.73	[{'connected_gene': 'VPS25', 'score': 11.85}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'RAMP2', 'score': 11.81}, {'connected_gene': 'HMGN2P15', 'score': 11.8}, {'connected_gene': 'CNTD1', 'score': 11.77}, {'connected_gene': 'COA3', 'score': 11.77}, {'connected_gene': 'WNK4', 'score': 11.23}, {'connected_gene': 'AOC2', 'score': 11.12}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'MIR6781', 'score': 0.77}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17	GH17I042565	42565732	42569144	2.25	[{'connected_gene': 'MLX', 'score': 550.77}, {'connected_gene': 'CNTNAP1', 'score': 40.86}, {'connected_gene': 'TUBG2', 'score': 36.27}, {'connected_gene': 'CAVIN1', 'score': 13.35}, {'connected_gene': 'FKBP10', 'score': 13.33}, {'connected_gene': 'ENSG00000259623', 'score': 12.29}, {'connected_gene': 'VAT1', 'score': 11.97}, {'connected_gene': 'ENSG00000267765', 'score': 11.35}, {'connected_gene': 'RPL27', 'score': 10.88}, {'connected_gene': 'HSD17B1P1', 'score': 10.22}, {'connected_gene': 'COASY', 'score': 0.44}, {'connected_gene': 'PSMC3IP', 'score': 0.39}]
chr17	GH17I043006	43006164	43007833	1.96	[{'connected_gene': 'IFI35', 'score': 556.31}, {'connected_gene': 'NBR2', 'score': 21.42}, {'connected_gene': 'VAT1', 'score': 0.37}]
chr17	GH17I042928	42928162	42929973	1.2	[{'connected_gene': 'G6PC', 'score': 13.31}, {'connected_gene': 'LINC00671', 'score': 13.3}, {'connected_gene': 'RNU6-287P', 'score': 13.28}, {'connected_gene': 'AOC3', 'score': 12.38}, {'connected_gene': 'AOC2', 'score': 12.37}, {'connected_gene': 'CNTD1', 'score': 10.8}, {'connected_gene': 'COA3', 'score': 10.8}, {'connected_gene': 'VPS25', 'score': 10.73}, {'connected_gene': 'RAMP2-AS1', 'score': 10.72}, {'connected_gene': 'HMGN2P15', 'score': 10.72}, {'connected_gene': 'RAMP2', 'score': 10.72}, {'connected_gene': 'VAT1', 'score': 10.6}, {'connected_gene': 'RND2', 'score': 10.6}, {'connected_gene': 'ZNF385C', 'score': 4.61}, {'connected_gene': 'RNY4P2', 'score': 0.77}, {'connected_gene': 'GC17M042933', 'score': 0.77}]
chr17	GH17I043210	43210408	43214787	1.85	[{'connected_gene': 'TMEM106A', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 71.97}, {'connected_gene': 'VAT1', 'score': 10.94}, {'connected_gene': 'RND2', 'score': 10.94}, {'connected_gene': 'PTGES3L', 'score': 5.41}, {'connected_gene': 'PSMC3IP', 'score': 4.36}, {'connected_gene': 'RNU2-1', 'score': 0.34}, {'connected_gene': 'NBR1', 'score': 0.26}]
chr17	GH17I043024	43024044	43026033	2.07	[{'connected_gene': 'VAT1', 'score': 550.77}, {'connected_gene': 'RND2', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 88.68}, {'connected_gene': 'HMGN1P29', 'score': 14.8}, {'connected_gene': 'CCR10', 'score': 14.18}, {'connected_gene': 'ENSG00000267758', 'score': 14.04}, {'connected_gene': 'ENSG00000267002', 'score': 13.28}, {'connected_gene': 'LINC00910', 'score': 13.2}, {'connected_gene': 'DHX8', 'score': 12.93}, {'connected_gene': 'HSD17B1P1', 'score': 11.67}, {'connected_gene': 'KAT2A', 'score': 11.64}, {'connected_gene': 'GHDC', 'score': 11.45}, {'connected_gene': 'HSD17B1', 'score': 10.78}, {'connected_gene': 'NAGLU', 'score': 10.2}, {'connected_gene': 'ENSG00000267340', 'score': 10.0}, {'connected_gene': 'LOC108783654', 'score': 9.98}, {'connected_gene': 'STAT5A', 'score': 9.94}, {'connected_gene': 'PTGES3L', 'score': 4.57}, {'connected_gene': 'IFI35', 'score': 0.37}]
chr17	GH17I043026	43026878	43027058	0.63	[{'connected_gene': 'VAT1', 'score': 550.77}, {'connected_gene': 'RND2', 'score': 550.77}, {'connected_gene': 'GC17P043420', 'score': 0.77}]
chr17	GH17I043018	43018051	43023013	2.56	[{'connected_gene': 'VAT1', 'score': 555.08}, {'connected_gene': 'NBR2', 'score': 76.35}, {'connected_gene': 'HMGN2P15', 'score': 10.21}, {'connected_gene': 'NAGLU', 'score': 2.05}, {'connected_gene': 'IFI35', 'score': 0.39}]
chr17	GH17I043124	43124200	43126961	2.1	[{'connected_gene': 'NBR2', 'score': 642.09}, {'connected_gene': 'PIR61659', 'score': 550.77}, {'connected_gene': 'PIR48082', 'score': 550.77}, {'connected_gene': 'BRCA1', 'score': 550.26}, {'connected_gene': 'DHX8', 'score': 50.85}, {'connected_gene': 'HMGN1P29', 'score': 37.33}, {'connected_gene': 'ENSG00000267758', 'score': 35.92}, {'connected_gene': 'LINC00910', 'score': 25.32}, {'connected_gene': 'PSME3', 'score': 18.85}, {'connected_gene': 'VAT1', 'score': 12.1}, {'connected_gene': 'RND2', 'score': 12.1}, {'connected_gene': 'RETREG3', 'score': 10.57}, {'connected_gene': 'STAT5A', 'score': 10.44}, {'connected_gene': 'VPS25', 'score': 10.18}, {'connected_gene': 'MIR2117HG', 'score': 6.37}, {'connected_gene': 'PSMC3IP', 'score': 4.57}]
chr17	GH17I043314	43314626	43317199	1.47	[{'connected_gene': 'NBR2', 'score': 83.62}, {'connected_gene': 'ASB16-AS1', 'score': 51.21}, {'connected_gene': 'DHX8', 'score': 45.43}, {'connected_gene': 'HMGN1P29', 'score': 35.81}, {'connected_gene': 'LINC00910', 'score': 32.44}, {'connected_gene': 'TMUB2', 'score': 31.59}, {'connected_gene': 'UBTF', 'score': 25.33}, {'connected_gene': 'NAGLU', 'score': 18.63}, {'connected_gene': 'PLEKHH3', 'score': 18.48}, {'connected_gene': 'RPL27', 'score': 18.34}, {'connected_gene': 'PSMC3IP', 'score': 15.98}, {'connected_gene': 'NBR1', 'score': 12.45}, {'connected_gene': 'ENSG00000267765', 'score': 11.49}, {'connected_gene': 'VAT1', 'score': 11.24}, {'connected_gene': 'RND2', 'score': 11.24}, {'connected_gene': 'LOC108783654', 'score': 9.96}, {'connected_gene': 'PSME3', 'score': 9.75}, {'connected_gene': 'PTGES3L', 'score': 5.75}, {'connected_gene': 'LINC00854', 'score': 0.39}, {'connected_gene': 'GC17P043558', 'score': 0.26}]
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	GH17I043215	43215463	43219401	0.91	[{'connected_gene': 'NBR2', 'score': 72.01}, {'connected_gene': 'VAT1', 'score': 11.38}, {'connected_gene': 'RND2', 'score': 11.38}, {'connected_gene': 'TMEM106A', 'score': 0.44}, {'connected_gene': 'RNU2-1', 'score': 0.37}, {'connected_gene': 'LINC00854', 'score': 0.17}]
chr17	GH17I043174	43174824	43178276	1.27	[{'connected_gene': 'NBR2', 'score': 80.16}, {'connected_gene': 'VAT1', 'score': 11.03}, {'connected_gene': 'RND2', 'score': 11.03}, {'connected_gene': 'PTGES3L', 'score': 4.69}, {'connected_gene': 'ENSG00000267002', 'score': 0.44}, {'connected_gene': 'NBR1', 'score': 0.44}, {'connected_gene': 'TMEM106A', 'score': 0.28}]
chr17	GH17I043309	43309500	43310555	1.12	[{'connected_gene': 'NBR2', 'score': 76.01}, {'connected_gene': 'VAT1', 'score': 11.24}, {'connected_gene': 'RND2', 'score': 11.24}, {'connected_gene': 'LINC00854', 'score': 0.77}, {'connected_gene': 'GC17P043558', 'score': 0.25}]
chr17	GH17I043322	43322342	43323983	1.54	[{'connected_gene': 'ENSG00000267340', 'score': 256.33}, {'connected_gene': 'UBTF', 'score': 244.63}, {'connected_gene': 'ASB16-AS1', 'score': 222.28}, {'connected_gene': 'ENSG00000267002', 'score': 201.04}, {'connected_gene': 'DHX8', 'score': 168.46}, {'connected_gene': 'HMGN1P29', 'score': 157.52}, {'connected_gene': 'TMUB2', 'score': 138.71}, {'connected_gene': 'NBR2', 'score': 107.3}, {'connected_gene': 'LINC00910', 'score': 86.65}, {'connected_gene': 'PLEKHH3', 'score': 86.41}, {'connected_gene': 'CCR10', 'score': 82.17}, {'connected_gene': 'LOC108783654', 'score': 67.26}, {'connected_gene': 'ENSG00000267765', 'score': 62.78}, {'connected_gene': 'RETREG3', 'score': 58.84}, {'connected_gene': 'HSD17B1', 'score': 58.15}, {'connected_gene': 'CNTNAP1', 'score': 43.2}, {'connected_gene': 'RPL27', 'score': 37.87}, {'connected_gene': 'CNTD1', 'score': 33.66}, {'connected_gene': 'CAVIN1', 'score': 31.49}, {'connected_gene': 'HSD17B1P1', 'score': 29.64}, {'connected_gene': 'C17orf53', 'score': 29.35}, {'connected_gene': 'HMGN2P15', 'score': 29.13}, {'connected_gene': 'NAGLU', 'score': 26.69}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'NBR1', 'score': 21.89}, {'connected_gene': 'TUBG2', 'score': 19.96}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'PSMC3IP', 'score': 13.05}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'LINC00854', 'score': 12.02}, {'connected_gene': 'VAT1', 'score': 11.98}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'TMEM106A', 'score': 10.93}, {'connected_gene': 'COASY', 'score': 10.47}, {'connected_gene': 'ENSG00000267632', 'score': 10.3}, {'connected_gene': 'RND2', 'score': 9.98}, {'connected_gene': 'AARSD1', 'score': 9.97}, {'connected_gene': 'PSME3', 'score': 9.76}, {'connected_gene': 'GC17P043558', 'score': 0.28}]
chr17	GH17I043079	43079182	43081835	0.65	[{'connected_gene': 'GC17P043421', 'score': 550.77}, {'connected_gene': 'RPL21P4', 'score': 550.77}, {'connected_gene': 'NBR2', 'score': 83.74}, {'connected_gene': 'VAT1', 'score': 11.88}, {'connected_gene': 'RND2', 'score': 11.88}, {'connected_gene': 'RPL27', 'score': 11.42}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.4}, {'connected_gene': 'PSMC3IP', 'score': 4.28}, {'connected_gene': 'BRCA1', 'score': 3.11}, {'connected_gene': 'GC17P043556', 'score': 0.44}]