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
ENST00000335934	[[24300302, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307201], [24307600, 24308085]]	[[24300448, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
ENST00000238721	[[24300304, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24308051]]	[[24300448, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
ENST00000313482	[[24300305, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307201], [24307600, 24307655]]	[[24300503, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
ENST00000407482	[[24300503, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]	[[24300503, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
ENST00000417886	[[24302371, 24302510], [24303688, 24303901], [24305870, 24306022], [24307058, 24307381]]	None
ENST00000413037	[[24303615, 24303901], [24305754, 24306022], [24307058, 24307181]]	[[24303641, 24303901], [24305754, 24306022], [24307058, 24307181]]
ENST00000470636	[[24307618, 24307730], [24308526, 24308731]]	None
NM_001206802	[[24300302, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307201]]	[[24300503, 24300631], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
NM_004881	[[24300302, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24308085]]	[[24300448, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]
NM_147184	[[24300302, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307201], [24307600, 24308085]]	[[24300448, 24300631], [24302313, 24302510], [24303688, 24303901], [24305754, 24306022], [24307058, 24307196]]

Promoter

Chrom	Start	End	Description
chr2	24307162	24307242	CAGE_peak_5_at_TP53I3_5end
chr2	24307250	24307332	CAGE_peak_4_at_TP53I3_5end
chr2	24307635	24307660	CAGE_peak_1_at_TP53I3_5end
chr2	24307664	24307682	CAGE_peak_6_at_TP53I3_5end
chr2	24307692	24307711	CAGE_peak_3_at_TP53I3_5end
chr2	24307712	24307742	CAGE_peak_2_at_TP53I3_5end
chr2	24307882	24307900	CAGE_peak_8_at_TP53I3_5end
chr2	24308054	24308078	CAGE_peak_9_at_TP53I3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I024082	24082186	24085792	2.28	[{'connected_gene': 'TP53I3', 'score': 574.02}, {'connected_gene': 'FAM228B', 'score': 38.04}, {'connected_gene': 'ATAD2B', 'score': 16.13}, {'connected_gene': 'PFN4', 'score': 12.48}, {'connected_gene': 'WDCP', 'score': 10.58}, {'connected_gene': 'ENSG00000271936', 'score': 10.05}, {'connected_gene': 'FAM228A', 'score': 5.42}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2	GH02I024364	24364455	24366326	1.1	[{'connected_gene': 'FAM228A', 'score': 6.47}, {'connected_gene': 'TP53I3', 'score': 5.24}, {'connected_gene': 'ATAD2B', 'score': 2.92}, {'connected_gene': 'ITSN2', 'score': 0.77}, {'connected_gene': 'LOC105374329', 'score': 0.28}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2	GH02I024101	24101459	24101651	0.24	[{'connected_gene': 'SF3B6', 'score': 11.17}, {'connected_gene': 'FAM228B', 'score': 11.17}, {'connected_gene': 'MFSD2B', 'score': 10.31}, {'connected_gene': 'GC02M024111', 'score': 0.44}, {'connected_gene': 'PIR36243', 'score': 0.44}, {'connected_gene': 'TP53I3', 'score': 0.37}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2	GH02I024358	24358364	24361496	2.21	[{'connected_gene': 'ITSN2', 'score': 566.84}, {'connected_gene': 'LOC105374328', 'score': 21.98}, {'connected_gene': 'ATAD2B', 'score': 16.87}, {'connected_gene': 'DNMT3A', 'score': 12.75}, {'connected_gene': 'FAM228A', 'score': 6.47}, {'connected_gene': 'TP53I3', 'score': 4.51}, {'connected_gene': 'RPL36AP13', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2	GH02I024075	24075204	24078746	2.32	[{'connected_gene': 'FAM228B', 'score': 587.3}, {'connected_gene': 'GC02M024079', 'score': 550.77}, {'connected_gene': 'PIR43014', 'score': 550.77}, {'connected_gene': 'SF3B6', 'score': 550.77}, {'connected_gene': 'TP53I3', 'score': 34.48}, {'connected_gene': 'ATAD2B', 'score': 16.14}, {'connected_gene': 'PFN4', 'score': 13.19}, {'connected_gene': 'WDCP', 'score': 10.6}, {'connected_gene': 'ENSG00000271936', 'score': 10.05}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2	GH02I024121	24121128	24124934	2.02	[{'connected_gene': 'FAM228B', 'score': 593.01}, {'connected_gene': 'PFN4', 'score': 564.76}, {'connected_gene': 'ENSG00000276087', 'score': 550.77}, {'connected_gene': 'ATAD2B', 'score': 16.37}, {'connected_gene': 'TP53I3', 'score': 4.84}, {'connected_gene': 'GC02M024111', 'score': 0.39}, {'connected_gene': 'PIR36243', 'score': 0.39}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2	GH02I024048	24048981	24050800	1.89	[{'connected_gene': 'FKBP1B', 'score': 550.77}, {'connected_gene': 'WDCP', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 46.56}, {'connected_gene': 'SF3B6', 'score': 12.16}, {'connected_gene': 'MFSD2B', 'score': 11.81}, {'connected_gene': 'TP53I3', 'score': 11.13}, {'connected_gene': 'UBXN2A', 'score': 10.72}, {'connected_gene': 'ATAD2B', 'score': 10.72}, {'connected_gene': 'PFN4', 'score': 10.09}, {'connected_gene': 'GC02M024079', 'score': 0.31}, {'connected_gene': 'PIR43014', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.06}]
chr2	GH02I024080	24080313	24081589	0.31	[{'connected_gene': 'UBXN2A', 'score': 10.52}, {'connected_gene': 'ATAD2B', 'score': 10.52}, {'connected_gene': 'TP53I3', 'score': 5.36}, {'connected_gene': 'FAM228B', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2	GH02I024332	24332936	24334800	1.04	[{'connected_gene': 'RPL36AP13', 'score': 550.77}, {'connected_gene': 'ITSN2', 'score': 12.62}, {'connected_gene': 'TP53I3', 'score': 6.02}, {'connected_gene': 'FAM228A', 'score': 4.95}, {'connected_gene': 'HMGN2P20', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2	GH02I024110	24110565	24111906	0.62	[{'connected_gene': 'GC02M024111', 'score': 550.77}, {'connected_gene': 'PIR36243', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 50.8}, {'connected_gene': 'PFN4', 'score': 14.38}, {'connected_gene': 'TP53I3', 'score': 11.72}, {'connected_gene': 'SF3B6', 'score': 11.14}, {'connected_gene': 'MFSD2B', 'score': 10.43}, {'connected_gene': 'UBXN2A', 'score': 9.64}, {'connected_gene': 'ATAD2B', 'score': 9.64}, {'connected_gene': 'FAM228A', 'score': 5.9}, {'connected_gene': 'GC02P023754', 'score': 0.05}]