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
ENST00000292577	[[1876808, 1877424], [1877506, 1877686], [1879919, 1880114], [1881233, 1881803], [1885350, 1885546]]	[[1877198, 1877424], [1877506, 1877686], [1879919, 1880114], [1881233, 1881565]]
ENST00000250974	[[1876974, 1877424], [1877506, 1877686], [1879919, 1880114], [1880894, 1881047], [1881233, 1881803], [1885350, 1885432]]	[[1877198, 1877424], [1877506, 1877686], [1879919, 1880114], [1880894, 1881047], [1881233, 1881565]]
ENST00000591351	[[1876975, 1877424], [1877506, 1877686], [1878662, 1880114], [1881233, 1883799]]	[[1879915, 1880114], [1881233, 1881565]]
ENST00000588598	[[1876975, 1877424], [1877506, 1880114], [1881233, 1883799]]	None
ENST00000590661	[[1876977, 1877424], [1877506, 1877646], [1879919, 1880060], [1881233, 1881584]]	[[1877359, 1877424], [1877506, 1877646], [1879919, 1880060], [1881233, 1881565]]
ENST00000592757	[[1877202, 1877424], [1877506, 1877686], [1878662, 1878903], [1879919, 1880016]]	[[1878881, 1878903], [1879919, 1880016]]
NM_031213	[[1876974, 1877424], [1877506, 1877686], [1879919, 1880114], [1880894, 1881047], [1881233, 1881803], [1885350, 1885518]]	[[1877198, 1877424], [1877506, 1877686], [1879919, 1880114], [1880894, 1881047], [1881233, 1881565]]
NM_001130111	[[1876974, 1877424], [1877506, 1877686], [1879919, 1880114], [1881233, 1881803], [1885350, 1885518]]	[[1877198, 1877424], [1877506, 1877686], [1879919, 1880114], [1881233, 1881565]]

Promoter

Chrom	Start	End	Description
chr19	1882247	1882274	CAGE_peak_5_at_FAM108A1_5end
chr19	1882553	1882574	CAGE_peak_3_at_FAM108A1_5end
chr19	1885483	1885507	CAGE_peak_1_at_FAM108A1_5end
chr19	1885511	1885526	CAGE_peak_2_at_FAM108A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I001895	1895001	1898670	1.75	[{'connected_gene': 'KLF16', 'score': 12.73}, {'connected_gene': 'LOC100288123', 'score': 6.27}, {'connected_gene': 'DOT1L', 'score': 5.99}, {'connected_gene': 'CSNK1G2', 'score': 1.92}, {'connected_gene': 'OAZ1', 'score': 1.84}, {'connected_gene': 'SCAMP4', 'score': 0.44}, {'connected_gene': 'ABHD17A', 'score': 0.39}]
chr19	GH19I001881	1881731	1886131	2.13	[{'connected_gene': 'ABHD17A', 'score': 550.77}, {'connected_gene': 'R3HDM4', 'score': 6.08}, {'connected_gene': 'REXO1', 'score': 5.78}, {'connected_gene': 'LOC100288123', 'score': 5.68}, {'connected_gene': 'MOB3A', 'score': 4.72}, {'connected_gene': 'GC19M001875', 'score': 0.44}]
chr19	GH19I002038	2038922	2063128	2.91	[{'connected_gene': 'MKNK2', 'score': 564.18}, {'connected_gene': 'SF3A2', 'score': 32.17}, {'connected_gene': 'DAZAP1', 'score': 29.64}, {'connected_gene': 'ZNF77', 'score': 27.74}, {'connected_gene': 'TCF3', 'score': 21.98}, {'connected_gene': 'CIRBP', 'score': 21.17}, {'connected_gene': 'LOC100288123', 'score': 19.49}, {'connected_gene': 'MUM1', 'score': 19.31}, {'connected_gene': 'DOT1L', 'score': 14.12}, {'connected_gene': 'LMNB2', 'score': 12.32}, {'connected_gene': 'BTBD2', 'score': 12.14}, {'connected_gene': 'ENSG00000268798', 'score': 11.72}, {'connected_gene': 'PLK5', 'score': 10.68}, {'connected_gene': 'STK11', 'score': 10.58}, {'connected_gene': 'RPS15', 'score': 10.57}, {'connected_gene': 'PEAK3', 'score': 9.85}, {'connected_gene': 'MOB3A', 'score': 9.62}, {'connected_gene': 'CSNK1G2', 'score': 7.22}, {'connected_gene': 'ABHD17A', 'score': 4.5}, {'connected_gene': 'REXO1', 'score': 4.43}, {'connected_gene': 'GADD45B', 'score': 2.22}, {'connected_gene': 'OAZ1', 'score': 1.88}, {'connected_gene': 'SCAMP4', 'score': 1.4}, {'connected_gene': 'ADAT3', 'score': 1.4}, {'connected_gene': 'GC19P002053', 'score': 0.77}, {'connected_gene': 'GC19M002058', 'score': 0.39}]
chr19	GH19I001406	1406078	1419581	2.79	[{'connected_gene': 'DAZAP1', 'score': 571.85}, {'connected_gene': 'TCF3', 'score': 51.42}, {'connected_gene': 'SF3A2', 'score': 49.4}, {'connected_gene': 'TMEM259', 'score': 46.61}, {'connected_gene': 'PTBP1', 'score': 36.05}, {'connected_gene': 'LOC100288123', 'score': 35.55}, {'connected_gene': 'GRIN3B', 'score': 28.03}, {'connected_gene': 'RPS15', 'score': 24.67}, {'connected_gene': 'ENSG00000267317', 'score': 23.62}, {'connected_gene': 'CIRBP', 'score': 23.26}, {'connected_gene': 'MED16', 'score': 21.37}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.77}, {'connected_gene': 'SPPL2B', 'score': 10.22}, {'connected_gene': 'CNN2', 'score': 10.03}, {'connected_gene': 'C19orf24', 'score': 9.98}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.84}, {'connected_gene': 'POLR2E', 'score': 3.99}, {'connected_gene': 'GPX4', 'score': 3.17}, {'connected_gene': 'REXO1', 'score': 1.97}, {'connected_gene': 'ARHGAP45', 'score': 1.92}, {'connected_gene': 'SCAMP4', 'score': 1.52}, {'connected_gene': 'ADAT3', 'score': 1.52}, {'connected_gene': 'ABHD17A', 'score': 1.44}, {'connected_gene': 'UQCR11', 'score': 1.28}, {'connected_gene': 'GC19P001423', 'score': 0.44}]
chr19	GH19I001901	1901466	1906477	2.54	[{'connected_gene': 'SCAMP4', 'score': 557.68}, {'connected_gene': 'ADAT3', 'score': 550.77}, {'connected_gene': 'GC19P001907', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 12.19}, {'connected_gene': 'TMEM259', 'score': 11.97}, {'connected_gene': 'SF3A2', 'score': 11.32}, {'connected_gene': 'DAZAP1', 'score': 10.89}, {'connected_gene': 'CSNK1G2', 'score': 3.62}, {'connected_gene': 'DOT1L', 'score': 3.21}, {'connected_gene': 'OAZ1', 'score': 2.91}, {'connected_gene': 'PEAK3', 'score': 2.66}, {'connected_gene': 'ABHD17A', 'score': 0.37}]
chr19	GH19I001886	1886961	1888421	0.83	[{'connected_gene': 'LOC100288123', 'score': 6.06}, {'connected_gene': 'ABHD17A', 'score': 0.77}, {'connected_gene': 'SCAMP4', 'score': 0.37}]
chr19	GH19I001879	1879896	1881474	0.2	[{'connected_gene': 'LOC100288123', 'score': 5.87}, {'connected_gene': 'REXO1', 'score': 5.77}, {'connected_gene': 'ATP8B3', 'score': 4.78}, {'connected_gene': 'GC19M001875', 'score': 0.77}, {'connected_gene': 'ABHD17A', 'score': 0.77}]
chr19	GH19I001872	1872229	1877201	1.79	[{'connected_gene': 'ENSG00000261526', 'score': 555.8}, {'connected_gene': 'GC19M001875', 'score': 550.77}, {'connected_gene': 'ENSG00000267232', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 35.58}, {'connected_gene': 'TMEM259', 'score': 34.94}, {'connected_gene': 'LOC100288123', 'score': 32.76}, {'connected_gene': 'DAZAP1', 'score': 30.1}, {'connected_gene': 'TCF3', 'score': 29.18}, {'connected_gene': 'ENSG00000267317', 'score': 24.14}, {'connected_gene': 'MED16', 'score': 21.45}, {'connected_gene': 'DOT1L', 'score': 19.97}, {'connected_gene': 'GRIN3B', 'score': 19.71}, {'connected_gene': 'C19orf24', 'score': 12.89}, {'connected_gene': 'SBNO2', 'score': 11.99}, {'connected_gene': 'SCAMP4', 'score': 11.52}, {'connected_gene': 'MIDN', 'score': 11.17}, {'connected_gene': 'ARID3A', 'score': 10.9}, {'connected_gene': 'ATP8B3', 'score': 10.41}, {'connected_gene': 'MOB3A', 'score': 9.95}, {'connected_gene': 'REXO1', 'score': 5.77}, {'connected_gene': 'ABHD17A', 'score': 5.33}, {'connected_gene': 'KLF16', 'score': 0.39}]
chr19	GH19I002288	2288541	2290648	1.61	[{'connected_gene': 'GC19M002288', 'score': 550.77}, {'connected_gene': 'ZNF77', 'score': 14.07}, {'connected_gene': 'AP3D1', 'score': 11.86}, {'connected_gene': 'MUM1', 'score': 10.88}, {'connected_gene': 'SPPL2B', 'score': 10.79}, {'connected_gene': 'LSM7', 'score': 10.45}, {'connected_gene': 'ZNF555', 'score': 10.4}, {'connected_gene': 'ENSG00000261526', 'score': 10.07}, {'connected_gene': 'TIMM13', 'score': 6.53}, {'connected_gene': 'ABHD17A', 'score': 5.31}, {'connected_gene': 'LOC101928572', 'score': 0.39}, {'connected_gene': 'LINGO3', 'score': 0.37}, {'connected_gene': 'ENSG00000273734', 'score': 0.34}]