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
ENST00000446425	[[24150154, 24150485], [24181170, 24181225], [24191788, 24191905], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24223690]]	None
ENST00000404924	[[24150181, 24150485], [24162409, 24162532], [24181170, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24223073]]	[[24181184, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24222737]]
ENST00000309033	[[24163288, 24163518], [24181170, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24227779]]	[[24181184, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24222737]]
ENST00000535786	[[24163475, 24163518], [24181170, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24222541, 24222807]]	[[24181184, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24222541, 24222737]]
ENST00000479859	[[24194233, 24194284], [24199838, 24200190]]	None
NM_181713	[[24163375, 24163518], [24181170, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24223696]]	[[24181184, 24181225], [24194145, 24194284], [24199838, 24199945], [24205765, 24205903], [24207542, 24207701], [24222541, 24222737]]

Promoter

Chrom	Start	End	Description
chr2	24150121	24150174	CAGE_peak_2_at_UBXN2A_5end
chr2	24150180	24150202	CAGE_peak_4_at_UBXN2A_5end
chr2	24163281	24163363	CAGE_peak_1_at_UBXN2A_5end
chr2	24163365	24163381	CAGE_peak_3_at_UBXN2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I024025	24025088	24027068	0.31	[{'connected_gene': 'SF3B6', 'score': 10.93}, {'connected_gene': 'FAM228B', 'score': 10.93}, {'connected_gene': 'UBXN2A', 'score': 4.44}, {'connected_gene': 'RNU6-370P', 'score': 0.37}, {'connected_gene': 'MFSD2B', 'score': 0.37}, {'connected_gene': 'GC02P023754', 'score': 0.06}]
chr2	GH02I024400	24399510	24399601	0.62	[{'connected_gene': 'ITSN2', 'score': 11.27}, {'connected_gene': 'NCOA1', 'score': 10.44}, {'connected_gene': 'PTRHD1', 'score': 10.07}, {'connected_gene': 'CENPO', 'score': 10.07}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.84}, {'connected_gene': 'DNAJC27', 'score': 9.84}, {'connected_gene': 'RPS13P5', 'score': 9.84}, {'connected_gene': 'ENSG00000202479', 'score': 9.84}, {'connected_gene': 'UBXN2A', 'score': 9.37}, {'connected_gene': 'ATAD2B', 'score': 9.37}, {'connected_gene': 'LOC105374329', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2	GH02I024399	24399793	24400440	0.62	[{'connected_gene': 'ITSN2', 'score': 11.27}, {'connected_gene': 'NCOA1', 'score': 10.44}, {'connected_gene': 'PTRHD1', 'score': 10.07}, {'connected_gene': 'CENPO', 'score': 10.07}, {'connected_gene': 'DNAJC27-AS1', 'score': 9.84}, {'connected_gene': 'DNAJC27', 'score': 9.84}, {'connected_gene': 'RPS13P5', 'score': 9.84}, {'connected_gene': 'ENSG00000202479', 'score': 9.84}, {'connected_gene': 'UBXN2A', 'score': 9.37}, {'connected_gene': 'ATAD2B', 'score': 9.37}, {'connected_gene': 'LOC105374329', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.03}]
chr2	GH02I024009	24009402	24013507	2.46	[{'connected_gene': 'MFSD2B', 'score': 561.49}, {'connected_gene': 'UBXN2A', 'score': 11.37}, {'connected_gene': 'ATAD2B', 'score': 6.44}, {'connected_gene': 'RNU6-370P', 'score': 0.29}, {'connected_gene': 'GC02P023754', 'score': 0.07}]
chr2	GH02I023697	23697403	23698372	0.38	[{'connected_gene': 'FAM228B', 'score': 17.97}, {'connected_gene': 'UBXN2A', 'score': 14.29}, {'connected_gene': 'GC02P023689', 'score': 0.44}, {'connected_gene': 'GC02P023706', 'score': 0.44}, {'connected_gene': 'ATAD2B', 'score': 0.07}, {'connected_gene': 'KLHL29', 'score': 0.06}]
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	GH02I023824	23824811	23824960	0.64	[{'connected_gene': 'UBXN2A', 'score': 11.09}, {'connected_gene': 'ATAD2B', 'score': 11.09}, {'connected_gene': 'SF3B6', 'score': 10.12}, {'connected_gene': 'FAM228B', 'score': 10.12}, {'connected_gene': 'MFSD2B', 'score': 9.77}, {'connected_gene': 'PFN4', 'score': 7.77}, {'connected_gene': 'PGAM1P6', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.19}]
chr2	GH02I023938	23938935	23942310	1.98	[{'connected_gene': 'UBXN2A', 'score': 569.04}, {'connected_gene': 'ATAD2B', 'score': 17.63}, {'connected_gene': 'ITSN2', 'score': 13.64}, {'connected_gene': 'MFSD2B', 'score': 10.59}, {'connected_gene': 'PFN4', 'score': 8.22}, {'connected_gene': 'SDHCP3', 'score': 0.77}, {'connected_gene': 'GC02P023938', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.09}]
chr2	GH02I023990	23990825	23991077	0.22	[{'connected_gene': 'UBXN2A', 'score': 11.23}, {'connected_gene': 'ATAD2B', 'score': 11.23}, {'connected_gene': 'FAM228B', 'score': 10.62}, {'connected_gene': 'SF3B6', 'score': 10.62}, {'connected_gene': 'PFN4', 'score': 7.9}, {'connected_gene': 'RN7SL610P', 'score': 0.44}, {'connected_gene': 'GC02P023944', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.07}]
chr2	GH02I023924	23924738	23928391	2.1	[{'connected_gene': 'UBXN2A', 'score': 563.65}, {'connected_gene': 'ATAD2B', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 28.07}, {'connected_gene': 'MFSD2B', 'score': 11.29}, {'connected_gene': 'SF3B6', 'score': 10.6}, {'connected_gene': 'FKBP1B', 'score': 8.93}, {'connected_gene': 'PFN4', 'score': 8.22}, {'connected_gene': 'RPS13P4', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.09}]
chr2	GH02I023905	23905201	23905600	0.52	[{'connected_gene': 'UBXN2A', 'score': 12.91}, {'connected_gene': 'ATAD2B', 'score': 12.91}, {'connected_gene': 'RPS13P4', 'score': 0.77}, {'connected_gene': 'GC02P023754', 'score': 0.1}]
chr2	GH02I023916	23916497	23917341	0.85	[{'connected_gene': 'UBXN2A', 'score': 19.09}, {'connected_gene': 'ATAD2B', 'score': 0.39}, {'connected_gene': 'RPS13P4', 'score': 0.37}, {'connected_gene': 'GC02P023754', 'score': 0.1}]
chr2	GH02I023790	23790602	23791934	0.77	[{'connected_gene': 'UBXN2A', 'score': 13.36}, {'connected_gene': 'PFN4', 'score': 7.41}, {'connected_gene': 'GC02P023754', 'score': 0.28}, {'connected_gene': 'PGAM1P6', 'score': 0.18}, {'connected_gene': 'ATAD2B', 'score': 0.12}]
chr2	GH02I023891	23891520	23892642	0.97	[{'connected_gene': 'UBXN2A', 'score': 14.18}, {'connected_gene': 'PFN4', 'score': 7.78}, {'connected_gene': 'RPS13P4', 'score': 0.44}, {'connected_gene': 'PGAM1P6', 'score': 0.37}, {'connected_gene': 'ATAD2B', 'score': 0.28}, {'connected_gene': 'GC02P023754', 'score': 0.12}]
chr2	GH02I023679	23679049	23679487	0.39	[{'connected_gene': 'UBXN2A', 'score': 1.24}, {'connected_gene': 'ENSG00000283031', 'score': 0.44}, {'connected_gene': 'GC02P023666', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023944	23944631	23944780	0.68	[{'connected_gene': 'SDHCP3', 'score': 550.77}, {'connected_gene': 'GC02P023944', 'score': 550.77}, {'connected_gene': 'MFSD2B', 'score': 10.59}, {'connected_gene': 'UBXN2A', 'score': 0.37}, {'connected_gene': 'RN7SL610P', 'score': 0.23}, {'connected_gene': 'GC02P023754', 'score': 0.08}]
chr2	GH02I023900	23900111	23902861	0.99	[{'connected_gene': 'RPS13P4', 'score': 550.77}, {'connected_gene': 'UBXN2A', 'score': 22.9}, {'connected_gene': 'ATAD2B', 'score': 17.67}, {'connected_gene': 'FAM228B', 'score': 11.3}, {'connected_gene': 'SF3B6', 'score': 9.21}, {'connected_gene': 'PFN4', 'score': 7.72}, {'connected_gene': 'GC02P023754', 'score': 0.11}]
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}]