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
ENST00000215574	[[531713, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541338, 542092]]	[[531931, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541338, 541552]]
ENST00000586788	[[531768, 532108], [535836, 535923], [536242, 536715]]	None
ENST00000606136	[[532059, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541342, 541585]]	[[532059, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541342, 541385]]
ENST00000607527	[[535836, 535923], [536242, 536278], [541360, 541585]]	[[535836, 535923], [536242, 536278], [541360, 541552]]
ENST00000606065	[[535836, 535923], [536242, 536340], [537012, 537147], [541345, 541585]]	[[535836, 535923], [536242, 536340], [537012, 537147], [541345, 541385]]
ENST00000586283	[[536950, 537147], [541338, 542086]]	[[536950, 537147], [541338, 541552]]
ENST00000606400	[[536993, 537147], [541183, 541252], [541338, 541426], [541813, 542097]]	[[536993, 537147], [541183, 541244]]
ENST00000607629	[[537009, 537147], [538677, 538768], [538931, 539032]]	[[537009, 537147], [538677, 538768], [538931, 539009]]
ENST00000593036	[[541218, 541252], [541338, 541585]]	[[541218, 541244]]
NM_004359	[[531732, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541338, 542087]]	[[531931, 532108], [535836, 535923], [536242, 536340], [537012, 537147], [541338, 541552]]

Promoter

Chrom	Start	End	Description
chr19	531434	531448	CAGE_peak_4_at_CDC34_5end
chr19	531458	531469	CAGE_peak_9_at_CDC34_5end
chr19	531713	531748	CAGE_peak_1_at_CDC34_5end
chr19	531750	531767	CAGE_peak_2_at_CDC34_5end
chr19	532049	532065	CAGE_peak_3_at_CDC34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000530	530390	534497	2.48	[{'connected_gene': 'CDC34', 'score': 561.34}, {'connected_gene': 'GZMM', 'score': 6.82}, {'connected_gene': 'LOC105372233', 'score': 5.29}, {'connected_gene': 'MIER2', 'score': 4.5}, {'connected_gene': 'TMEM259', 'score': 1.29}, {'connected_gene': 'ARID3A', 'score': 1.24}, {'connected_gene': 'R3HDM4', 'score': 1.18}]
chr19	GH19I000535	535201	535270	0.96	[{'connected_gene': 'CDC34', 'score': 0.77}, {'connected_gene': 'GZMM', 'score': 0.44}]
chr19	GH19I000539	539102	539885	0.38	[{'connected_gene': 'CDC34', 'score': 11.06}, {'connected_gene': 'GZMM', 'score': 0.77}]
chr19	GH19I000536	536097	536985	0.2	[{'connected_gene': 'CDC34', 'score': 7.61}, {'connected_gene': 'LOC105372233', 'score': 4.87}, {'connected_gene': 'GZMM', 'score': 0.44}]
chr19	GH19I000514	514041	515170	0.62	[{'connected_gene': 'BSG', 'score': 11.77}, {'connected_gene': 'TPGS1', 'score': 0.44}, {'connected_gene': 'LOC105372232', 'score': 0.44}, {'connected_gene': 'CDC34', 'score': 0.37}]
chr19	GH19I000528	528084	529112	0.77	[{'connected_gene': 'POLRMT', 'score': 11.19}, {'connected_gene': 'FGF22', 'score': 11.19}, {'connected_gene': 'CDC34', 'score': 7.44}, {'connected_gene': 'GZMM', 'score': 6.34}, {'connected_gene': 'SHC2', 'score': 5.39}, {'connected_gene': 'MIER2', 'score': 5.19}, {'connected_gene': 'LOC105372232', 'score': 0.34}]
chr19	GH19I000523	523929	524788	0.81	[{'connected_gene': 'POLRMT', 'score': 11.46}, {'connected_gene': 'FGF22', 'score': 11.44}, {'connected_gene': 'MADCAM1', 'score': 5.75}, {'connected_gene': 'MUM1', 'score': 4.95}, {'connected_gene': 'CDC34', 'score': 0.44}, {'connected_gene': 'LOC105372232', 'score': 0.37}]
chr19	GH19I000510	510241	513382	1.72	[{'connected_gene': 'GZMM', 'score': 20.59}, {'connected_gene': 'TPGS1', 'score': 6.48}, {'connected_gene': 'MADCAM1', 'score': 5.61}, {'connected_gene': 'RNF126', 'score': 4.39}, {'connected_gene': 'LOC105372232', 'score': 0.77}, {'connected_gene': 'CDC34', 'score': 0.37}]
chr19	GH19I000543	543166	545328	1.5	[{'connected_gene': 'GZMM', 'score': 557.59}, {'connected_gene': 'DAZAP1', 'score': 15.79}, {'connected_gene': 'PTBP1', 'score': 15.38}, {'connected_gene': 'ENSG00000267317', 'score': 12.24}, {'connected_gene': 'TMEM259', 'score': 10.75}, {'connected_gene': 'CDC34', 'score': 10.69}, {'connected_gene': 'MIER2', 'score': 10.46}, {'connected_gene': 'CNN2', 'score': 10.0}, {'connected_gene': 'FSTL3', 'score': 9.85}, {'connected_gene': 'LOC105372233', 'score': 7.34}, {'connected_gene': 'PIR53036', 'score': 0.37}]
chr19	GH19I000516	516541	519840	1.34	[{'connected_gene': 'DAZAP1', 'score': 16.4}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'CFD', 'score': 14.79}, {'connected_gene': 'MIER2', 'score': 12.5}, {'connected_gene': 'PTBP1', 'score': 11.95}, {'connected_gene': 'BSG', 'score': 11.78}, {'connected_gene': 'MED16', 'score': 11.44}, {'connected_gene': 'ENSG00000267317', 'score': 11.29}, {'connected_gene': 'RNF126', 'score': 10.62}, {'connected_gene': 'GRIN3B', 'score': 10.53}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'CNN2', 'score': 9.81}, {'connected_gene': 'TPGS1', 'score': 6.52}, {'connected_gene': 'LOC105372232', 'score': 0.39}, {'connected_gene': 'CDC34', 'score': 0.39}]
chr19	GH19I000906	906185	910931	1.79	[{'connected_gene': 'ARHGAP45', 'score': 19.31}, {'connected_gene': 'R3HDM4', 'score': 17.58}, {'connected_gene': 'MIDN', 'score': 15.99}, {'connected_gene': 'ABCA7', 'score': 13.25}, {'connected_gene': 'CFD', 'score': 13.18}, {'connected_gene': 'ELANE', 'score': 13.16}, {'connected_gene': 'PRTN3', 'score': 13.14}, {'connected_gene': 'GZMM', 'score': 12.59}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'SBNO2', 'score': 11.47}, {'connected_gene': 'MIER2', 'score': 9.96}, {'connected_gene': 'CIRBP', 'score': 4.88}, {'connected_gene': 'CDC34', 'score': 3.25}, {'connected_gene': 'RNF126', 'score': 3.2}, {'connected_gene': 'ARID3A', 'score': 1.97}, {'connected_gene': 'CNN2', 'score': 1.91}, {'connected_gene': 'TMEM259', 'score': 1.55}, {'connected_gene': 'STK11', 'score': 1.4}, {'connected_gene': 'RNU6-9', 'score': 0.37}]
chr19	GH19I001025	1025462	1031298	2.55	[{'connected_gene': 'CNN2', 'score': 565.23}, {'connected_gene': 'ABCA7', 'score': 38.34}, {'connected_gene': 'ARHGAP45', 'score': 12.24}, {'connected_gene': 'GRIN3B', 'score': 9.72}, {'connected_gene': 'SBNO2', 'score': 8.24}, {'connected_gene': 'GZMM', 'score': 7.55}, {'connected_gene': 'R3HDM4', 'score': 7.23}, {'connected_gene': 'RNU6-2', 'score': 5.7}, {'connected_gene': 'MIDN', 'score': 5.48}, {'connected_gene': 'RNF126', 'score': 3.2}, {'connected_gene': 'CIRBP', 'score': 1.88}, {'connected_gene': 'CDC34', 'score': 1.61}, {'connected_gene': 'TMEM259', 'score': 1.52}, {'connected_gene': 'ENSG00000279753', 'score': 0.39}]
chr19	GH19I000569	569647	577000	2.77	[{'connected_gene': 'LOC105372233', 'score': 579.92}, {'connected_gene': 'BSG', 'score': 560.69}, {'connected_gene': 'GC19P000572', 'score': 550.77}, {'connected_gene': 'GC19P000573', 'score': 550.77}, {'connected_gene': 'TMEM259', 'score': 20.94}, {'connected_gene': 'DAZAP1', 'score': 15.58}, {'connected_gene': 'PTBP1', 'score': 15.38}, {'connected_gene': 'ENSG00000267317', 'score': 14.63}, {'connected_gene': 'SBNO2', 'score': 11.99}, {'connected_gene': 'MED16', 'score': 11.83}, {'connected_gene': 'MIDN', 'score': 11.16}, {'connected_gene': 'GRIN3B', 'score': 10.95}, {'connected_gene': 'ARID3A', 'score': 10.93}, {'connected_gene': 'CDC34', 'score': 2.83}, {'connected_gene': 'R3HDM4', 'score': 2.07}, {'connected_gene': 'ODF3L2', 'score': 1.75}, {'connected_gene': 'GC19P000583', 'score': 0.44}]
chr19	GH19I000589	589600	590401	1.63	[{'connected_gene': 'LOC100420586', 'score': 550.77}, {'connected_gene': 'GC19P000591', 'score': 550.77}, {'connected_gene': 'GC19P000592', 'score': 550.77}, {'connected_gene': 'GC19M000592', 'score': 550.77}, {'connected_gene': 'HCN2', 'score': 550.77}, {'connected_gene': 'CDC34', 'score': 5.19}]
chr19	GH19I000588	588201	588430	1.08	[{'connected_gene': 'GC19P000591', 'score': 550.77}, {'connected_gene': 'GC19P000592', 'score': 550.77}, {'connected_gene': 'HCN2', 'score': 550.77}, {'connected_gene': 'BSG', 'score': 9.5}, {'connected_gene': 'CDC34', 'score': 6.33}, {'connected_gene': 'GC19M000583', 'score': 0.77}]