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
ENST00000308423	[[41003200, 41004960], [41006464, 41006750], [41007460, 41007590], [41008291, 41010141]]	[[41003360, 41004960], [41006464, 41006750], [41007460, 41007590], [41008291, 41008567]]
ENST00000587330	[[41004769, 41004960], [41006553, 41006750], [41007460, 41007590], [41008291, 41008318]]	[[41004769, 41004960], [41006553, 41006750], [41007460, 41007505]]
ENST00000592999	[[41005293, 41005381], [41006464, 41006750], [41007460, 41007590], [41008291, 41008360]]	[[41006493, 41006750], [41007460, 41007590], [41008291, 41008360]]
ENST00000591562	[[41006094, 41006172], [41006292, 41006750], [41007460, 41007590], [41008291, 41010147]]	[[41006493, 41006750], [41007460, 41007590], [41008291, 41008567]]
ENST00000588033	[[41006143, 41006320], [41006464, 41006750], [41007460, 41007539]]	[[41006493, 41006750], [41007460, 41007539]]
NR_102422	[[41003200, 41004960], [41006553, 41006750], [41007460, 41007590], [41008291, 41010147]]	None
NM_001277731	[[41003200, 41004960], [41006464, 41006750], [41008291, 41010147]]	[[41003360, 41004960], [41006464, 41006750], [41008291, 41008310]]
NM_003734	[[41003200, 41004960], [41006464, 41006750], [41007460, 41007590], [41008291, 41010147]]	[[41003360, 41004960], [41006464, 41006750], [41007460, 41007590], [41008291, 41008567]]
NM_001277732	[[41005259, 41005381], [41006464, 41006750], [41007460, 41007590], [41008291, 41010147]]	[[41006493, 41006750], [41007460, 41007590], [41008291, 41008567]]

Promoter

Chrom	Start	End	Description
chr17	41003146	41003150	CAGE_peak_6_at_AOC3_5end
chr17	41003166	41003270	CAGE_peak_1_at_AOC3_5end
chr17	41003273	41003300	CAGE_peak_2_at_AOC3_5end
chr17	41003302	41003317	CAGE_peak_3_at_AOC3_5end
chr17	41006104	41006119	CAGE_peak_4_at_AOC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I042866	42865840	42865931	0.84	[{'connected_gene': 'AOC4P', 'score': 550.77}, {'connected_gene': 'AOC3', 'score': 0.39}]
chr17	GH17I042864	42864155	42865333	0.72	[{'connected_gene': 'AOC4P', 'score': 550.77}, {'connected_gene': 'AOC3', 'score': 0.39}]
chr17	GH17I042865	42865684	42865833	0.84	[{'connected_gene': 'AOC4P', 'score': 550.77}, {'connected_gene': 'AOC3', 'score': 0.39}]
chr17	GH17I042846	42846097	42847387	0.96	[{'connected_gene': 'AOC4P', 'score': 8.98}, {'connected_gene': 'AOC2', 'score': 0.77}, {'connected_gene': 'AOC3', 'score': 0.77}]
chr17	GH17I042850	42850677	42854841	1.7	[{'connected_gene': 'AOC3', 'score': 550.77}, {'connected_gene': 'AOC4P', 'score': 11.69}, {'connected_gene': 'MEOX1', 'score': 4.82}, {'connected_gene': 'AOC2', 'score': 0.44}]
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	GH17I042849	42849805	42849853	0.82	[{'connected_gene': 'AOC3', 'score': 550.77}, {'connected_gene': 'AOC2', 'score': 0.44}]
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	GH17I042802	42802847	42807185	0.81	[{'connected_gene': 'WNK4', 'score': 12.1}, {'connected_gene': 'VPS25', 'score': 11.27}, {'connected_gene': 'RAMP2-AS1', 'score': 11.24}, {'connected_gene': 'RAMP2', 'score': 11.22}, {'connected_gene': 'HMGN2P15', 'score': 11.21}, {'connected_gene': 'EZH1', 'score': 11.06}, {'connected_gene': 'AOC2', 'score': 11.04}, {'connected_gene': 'AOC3', 'score': 11.01}, {'connected_gene': 'PSMC3IP', 'score': 10.79}, {'connected_gene': 'AOC4P', 'score': 6.1}, {'connected_gene': 'DHX58', 'score': 4.86}, {'connected_gene': 'GC17M042805', 'score': 0.77}, {'connected_gene': 'CNTD1', 'score': 0.44}, {'connected_gene': 'COA3', 'score': 0.44}]
chr17	GH17I042878	42878264	42878413	0.75	[{'connected_gene': 'LINC00671', 'score': 13.24}, {'connected_gene': 'G6PC', 'score': 13.24}, {'connected_gene': 'AOC3', 'score': 12.53}, {'connected_gene': 'AOC2', 'score': 12.52}, {'connected_gene': 'RNU6-287P', 'score': 0.39}, {'connected_gene': 'AOC4P', 'score': 0.39}]
chr17	GH17I042847	42846003	42846073	0.58	[{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'AOC3', 'score': 0.44}]
chr17	GH17I042419	42419366	42424521	2.53	[{'connected_gene': 'CAVIN1', 'score': 564.34}, {'connected_gene': 'LOC102725238', 'score': 550.77}, {'connected_gene': 'LINC00910', 'score': 35.8}, {'connected_gene': 'HMGN1P29', 'score': 32.86}, {'connected_gene': 'NBR2', 'score': 21.15}, {'connected_gene': 'ENSG00000267758', 'score': 20.53}, {'connected_gene': 'DHX58', 'score': 19.38}, {'connected_gene': 'PSME3', 'score': 18.3}, {'connected_gene': 'CNTD1', 'score': 15.64}, {'connected_gene': 'RETREG3', 'score': 12.99}, {'connected_gene': 'TUBG2', 'score': 12.93}, {'connected_gene': 'NAGLU', 'score': 12.48}, {'connected_gene': 'ENSG00000267340', 'score': 11.67}, {'connected_gene': 'AOC3', 'score': 11.65}, {'connected_gene': 'ACLY', 'score': 11.63}, {'connected_gene': 'ATP6V0A1', 'score': 11.44}, {'connected_gene': 'RPL27', 'score': 10.81}, {'connected_gene': 'NKIRAS2', 'score': 10.74}, {'connected_gene': 'KAT2A', 'score': 10.25}, {'connected_gene': 'PLEKHH3', 'score': 10.24}, {'connected_gene': 'VPS25', 'score': 9.71}, {'connected_gene': 'WNK4', 'score': 6.73}, {'connected_gene': 'BECN1', 'score': 6.68}, {'connected_gene': 'STAT3', 'score': 4.81}, {'connected_gene': 'GHDC', 'score': 1.89}]
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	GH17I043543	43543607	43548391	2.29	[{'connected_gene': 'ETV4', 'score': 574.55}, {'connected_gene': 'ENSG00000267747', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 36.14}, {'connected_gene': 'DHX8', 'score': 27.57}, {'connected_gene': 'HMGN1P29', 'score': 23.85}, {'connected_gene': 'UBTF', 'score': 23.39}, {'connected_gene': 'LINC00910', 'score': 19.68}, {'connected_gene': 'RPL27', 'score': 19.39}, {'connected_gene': 'PLEKHH3', 'score': 18.8}, {'connected_gene': 'HSD17B1', 'score': 12.07}, {'connected_gene': 'AOC3', 'score': 11.81}, {'connected_gene': 'ENSG00000267340', 'score': 11.7}, {'connected_gene': 'TMUB2', 'score': 10.71}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'MEOX1', 'score': 10.18}, {'connected_gene': 'VPS25', 'score': 9.68}, {'connected_gene': 'PSME3', 'score': 9.68}, {'connected_gene': 'NBR2', 'score': 4.36}, {'connected_gene': 'GC17P043560', 'score': 0.18}]
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	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}]