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
ENST00000342868	[[180415844, 180416077], [180419812, 180420160], [180424212, 180424488], [180429671, 180429785], [180430855, 180430876], [180431416, 180431443], [180431735, 180431762], [180432333, 180433727]]	[[180416028, 180416077], [180419812, 180420160], [180424212, 180424488], [180429671, 180429785], [180430855, 180430876], [180431416, 180431443], [180431735, 180431762], [180432333, 180432872]]
NM_197975	[[180415844, 180416077], [180419812, 180420160], [180424212, 180424488], [180429671, 180429785], [180430855, 180430876], [180431416, 180431443], [180431735, 180431762], [180432333, 180433727]]	[[180416028, 180416077], [180419812, 180420160], [180424212, 180424488], [180429671, 180429785], [180430855, 180430876], [180431416, 180431443], [180431735, 180431762], [180432333, 180432872]]

Promoter

Chrom	Start	End	Description
chr5	180415839	180415851	CAGE_peak_2_at_BTNL3_5end
chr5	180415854	180415855	CAGE_peak_3_at_BTNL3_5end
chr5	180415865	180415868	CAGE_peak_4_at_BTNL3_5end
chr5	180415881	180415903	CAGE_peak_1_at_BTNL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I181046	181046265	181046624	0.8	[{'connected_gene': 'TRIM52', 'score': 42.73}, {'connected_gene': 'ENSG00000233937', 'score': 35.06}, {'connected_gene': 'ZFP62', 'score': 26.19}, {'connected_gene': 'CNOT6', 'score': 20.9}, {'connected_gene': 'BTNL9', 'score': 20.1}, {'connected_gene': 'SNORD96A', 'score': 19.3}, {'connected_gene': 'RACK1', 'score': 11.21}, {'connected_gene': 'MGAT1', 'score': 10.97}, {'connected_gene': 'BTNL8', 'score': 7.25}, {'connected_gene': 'BTNL3', 'score': 6.78}, {'connected_gene': 'MIR8089', 'score': 0.77}, {'connected_gene': 'PIR56545', 'score': 0.39}]
chr5	GH05I180897	180897455	180900575	0.81	[{'connected_gene': 'BTNL8', 'score': 550.77}, {'connected_gene': 'BTNL3', 'score': 55.75}, {'connected_gene': 'ZFP62', 'score': 0.28}]
chr5	GH05I180493	180493273	180497459	2.08	[{'connected_gene': 'CNOT6', 'score': 561.51}, {'connected_gene': 'HNRNPH1', 'score': 38.3}, {'connected_gene': 'MAML1', 'score': 34.94}, {'connected_gene': 'MRNIP', 'score': 33.77}, {'connected_gene': 'ENSG00000233937', 'score': 28.43}, {'connected_gene': 'TRIM52', 'score': 25.22}, {'connected_gene': 'ZFP62', 'score': 17.33}, {'connected_gene': 'RUFY1', 'score': 16.78}, {'connected_gene': 'RACK1', 'score': 15.53}, {'connected_gene': 'LOC100996419', 'score': 12.85}, {'connected_gene': 'ENSG00000248367', 'score': 12.21}, {'connected_gene': 'MAPK9', 'score': 11.67}, {'connected_gene': 'LOC101928445', 'score': 10.05}, {'connected_gene': 'SNORD96A', 'score': 9.97}, {'connected_gene': 'SCGB3A1', 'score': 7.07}, {'connected_gene': 'BTNL3', 'score': 5.92}, {'connected_gene': 'LOC102725231', 'score': 0.31}, {'connected_gene': 'LOC100329129', 'score': 0.28}]
chr5	GH05I181069	181069801	181070559	0.67	[{'connected_gene': 'OR2Y1', 'score': 10.2}, {'connected_gene': 'BTNL3', 'score': 5.55}, {'connected_gene': 'RPL13P10', 'score': 0.44}, {'connected_gene': 'TRV-CAC1-2', 'score': 0.31}]
chr5	GH05I180885	180885631	180886485	1.05	[{'connected_gene': 'BTNL3', 'score': 57.81}, {'connected_gene': 'BTNL8', 'score': 0.39}, {'connected_gene': 'ZFP62', 'score': 0.34}]
chr5	GH05I181027	181027721	181028610	1.13	[{'connected_gene': 'BTNL3', 'score': 72.14}, {'connected_gene': 'ENSG00000233937', 'score': 24.05}, {'connected_gene': 'MGAT1', 'score': 19.49}, {'connected_gene': 'RACK1', 'score': 13.1}, {'connected_gene': 'TRIM52', 'score': 11.21}, {'connected_gene': 'BTNL8', 'score': 7.03}, {'connected_gene': 'BTNL9', 'score': 0.39}, {'connected_gene': 'RNU6-1036P', 'score': 0.34}]
chr5	GH05I181051	181051141	181051290	0.63	[{'connected_gene': 'BTNL3', 'score': 22.29}, {'connected_gene': 'PIR56545', 'score': 0.44}, {'connected_gene': 'MIR8089', 'score': 0.44}, {'connected_gene': 'BTNL9', 'score': 0.39}]
chr5	GH05I180975	180975016	180978172	0.63	[{'connected_gene': 'BTNL3', 'score': 4.84}, {'connected_gene': 'LOC100128762', 'score': 0.44}, {'connected_gene': 'LOC646227', 'score': 0.44}]
chr5	GH05I180987	180987510	180991442	0.93	[{'connected_gene': 'BTNL3', 'score': 555.8}, {'connected_gene': 'GC05P181036', 'score': 0.37}]
chr5	GH05I180944	180944458	180944675	0.22	[{'connected_gene': 'RPS29P12', 'score': 550.77}, {'connected_gene': 'BTNL3', 'score': 49.21}, {'connected_gene': 'BTNL8', 'score': 2.2}, {'connected_gene': 'OR2Y1', 'score': 1.81}, {'connected_gene': 'OR2V2', 'score': 1.55}, {'connected_gene': 'ENSG00000222852', 'score': 0.29}]
chr5	GH05I180784	180784202	180789770	1.17	[{'connected_gene': 'GC05M180785', 'score': 550.77}, {'connected_gene': 'MGAT1', 'score': 17.88}, {'connected_gene': 'ZFP62', 'score': 12.33}, {'connected_gene': 'OR2V2', 'score': 11.09}, {'connected_gene': 'OR2Y1', 'score': 10.79}, {'connected_gene': 'ENSG00000250900', 'score': 10.72}, {'connected_gene': 'TRIM7', 'score': 10.1}, {'connected_gene': 'RACK1', 'score': 5.5}, {'connected_gene': 'BTNL3', 'score': 4.7}, {'connected_gene': 'GC05P181056', 'score': 0.39}]