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
ENST00000371620	[[139886869, 139887014], [139887091, 139887152], [139887376, 139887426], [139887504, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888428]]	[[139886895, 139887014], [139887091, 139887152], [139887376, 139887426], [139887504, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888257]]
ENST00000468484	[[139886888, 139887014], [139887091, 139887632]]	None
ENST00000481187	[[139886893, 139887426], [139887504, 139887695], [139887794, 139887864]]	None
ENST00000483807	[[139886898, 139887014], [139887376, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888333]]	None
ENST00000488678	[[139886914, 139887014], [139887091, 139887695], [139887794, 139887850]]	None
ENST00000493968	[[139886942, 139887014], [139887091, 139887426], [139887504, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888423]]	None
ENST00000467845	[[139887091, 139887152], [139887376, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888427]]	None
ENST00000492564	[[139887212, 139887426], [139887504, 139887695], [139888031, 139888116], [139888217, 139888428]]	None
ENST00000498095	[[139887308, 139887695], [139887794, 139887863], [139888031, 139888116], [139888217, 139888436]]	None
ENST00000463765	[[139887832, 139888116], [139888217, 139888429]]	None

Promoter

Chrom	Start	End	Description
chr9	139886846	139886912	CAGE_peak_1_at_C9orf142_5end
chr9	139887213	139887255	CAGE_peak_2_at_C9orf142_5end
chr9	139887321	139887335	CAGE_peak_5_at_C9orf142_5end
chr9	139887338	139887389	CAGE_peak_3_at_C9orf142_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I136898	136898192	136900040	0.72	[{'connected_gene': 'TMEM141', 'score': 11.67}, {'connected_gene': 'PAXX', 'score': 7.39}, {'connected_gene': 'LCNL1', 'score': 5.96}, {'connected_gene': 'MIR4479', 'score': 0.39}, {'connected_gene': 'TRAF2', 'score': 0.37}, {'connected_gene': 'PIR43412', 'score': 0.34}]
chr9	GH09I136690	136690111	136697000	1.67	[{'connected_gene': 'SNAPC4', 'score': 14.73}, {'connected_gene': 'FAM166A', 'score': 11.62}, {'connected_gene': 'ANAPC2', 'score': 11.25}, {'connected_gene': 'INPP5E', 'score': 10.93}, {'connected_gene': 'ZMYND19', 'score': 10.69}, {'connected_gene': 'ARRDC1-AS1', 'score': 9.86}, {'connected_gene': 'ENSG00000238058', 'score': 9.85}, {'connected_gene': 'AGPAT2', 'score': 6.68}, {'connected_gene': 'EGFL7', 'score': 4.86}, {'connected_gene': 'ABCA2', 'score': 2.45}, {'connected_gene': 'PAXX', 'score': 1.63}, {'connected_gene': 'FUT7', 'score': 1.35}, {'connected_gene': 'FAM69B', 'score': 0.37}]
chr9	GH09I136700	136700209	136702000	1.49	[{'connected_gene': 'ANAPC2', 'score': 12.33}, {'connected_gene': 'MAN1B1', 'score': 10.75}, {'connected_gene': 'CCDC183', 'score': 10.49}, {'connected_gene': 'RABL6', 'score': 10.48}, {'connected_gene': 'ABCA2', 'score': 4.49}, {'connected_gene': 'PAXX', 'score': 2.82}, {'connected_gene': 'LCNL1', 'score': 1.68}, {'connected_gene': 'SEC16A', 'score': 1.66}, {'connected_gene': 'FUT7', 'score': 1.41}, {'connected_gene': 'FAM69B', 'score': 0.39}, {'connected_gene': 'AGPAT2', 'score': 0.39}]
chr9	GH09I136990	136990589	137001441	2.52	[{'connected_gene': 'PAXX', 'score': 552.32}, {'connected_gene': 'CLIC3', 'score': 550.77}, {'connected_gene': 'LCN12', 'score': 20.29}, {'connected_gene': 'ABCA2', 'score': 16.26}, {'connected_gene': 'PRR31', 'score': 12.79}, {'connected_gene': 'C9orf139', 'score': 11.97}, {'connected_gene': 'INPP5E', 'score': 11.71}, {'connected_gene': 'LCNL1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'SNAPC4', 'score': 10.89}, {'connected_gene': 'EGFL7', 'score': 1.62}]
chr9	GH09I136895	136895718	136897727	0.43	[{'connected_gene': 'FUT7', 'score': 11.86}, {'connected_gene': 'ABCA2', 'score': 11.86}, {'connected_gene': 'NPDC1', 'score': 11.85}, {'connected_gene': 'ENTPD2', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.67}, {'connected_gene': 'PAXX', 'score': 7.41}, {'connected_gene': 'PHPT1', 'score': 6.39}, {'connected_gene': 'MIR4479', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.39}, {'connected_gene': 'PIR43412', 'score': 0.31}]
chr9	GH09I136894	136894223	136895577	0.2	[{'connected_gene': 'FUT7', 'score': 11.86}, {'connected_gene': 'ABCA2', 'score': 11.86}, {'connected_gene': 'NPDC1', 'score': 11.84}, {'connected_gene': 'ENTPD2', 'score': 11.84}, {'connected_gene': 'PAXX', 'score': 7.41}, {'connected_gene': 'MIR4479', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.39}, {'connected_gene': 'PIR43412', 'score': 0.31}]
chr9	GH09I136711	136711269	136712178	1.12	[{'connected_gene': 'FAM69B', 'score': 550.77}, {'connected_gene': 'AGPAT2', 'score': 13.63}, {'connected_gene': 'NPDC1', 'score': 10.95}, {'connected_gene': 'AJM1', 'score': 10.94}, {'connected_gene': 'ABCA2', 'score': 2.45}, {'connected_gene': 'LCNL1', 'score': 2.12}, {'connected_gene': 'FUT7', 'score': 1.6}, {'connected_gene': 'PAXX', 'score': 1.51}, {'connected_gene': 'CCDC183', 'score': 1.44}, {'connected_gene': 'CLIC3', 'score': 1.33}]
chr9	GH09I137166	137166082	137176207	2.11	[{'connected_gene': 'TMEM210', 'score': 550.77}, {'connected_gene': 'LRRC26', 'score': 550.77}, {'connected_gene': 'ENSG00000261793', 'score': 550.77}, {'connected_gene': 'MIR3621', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 22.07}, {'connected_gene': 'TPRN', 'score': 19.45}, {'connected_gene': 'DPH7', 'score': 17.0}, {'connected_gene': 'INPP5E', 'score': 16.36}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.82}, {'connected_gene': 'EXD3', 'score': 13.24}, {'connected_gene': 'NDOR1', 'score': 12.45}, {'connected_gene': 'TMEM203', 'score': 12.45}, {'connected_gene': 'GRIN1', 'score': 12.32}, {'connected_gene': 'DPP7', 'score': 12.25}, {'connected_gene': 'SNAPC4', 'score': 11.86}, {'connected_gene': 'ANAPC2', 'score': 11.64}, {'connected_gene': 'ENSG00000199411', 'score': 11.61}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'CCDC183-AS1', 'score': 9.82}, {'connected_gene': 'SSNA1', 'score': 5.49}, {'connected_gene': 'UAP1L1', 'score': 4.84}, {'connected_gene': 'LCNL1', 'score': 2.23}, {'connected_gene': 'ABCA2', 'score': 2.03}, {'connected_gene': 'PAXX', 'score': 1.93}, {'connected_gene': 'CLIC3', 'score': 1.86}, {'connected_gene': 'FUT7', 'score': 1.55}]
chr9	GH09I136900	136900192	136904156	1.26	[{'connected_gene': 'TRAF2', 'score': 12.81}, {'connected_gene': 'TMEM141', 'score': 11.66}, {'connected_gene': 'PHPT1', 'score': 10.94}, {'connected_gene': 'MAN1B1', 'score': 10.78}, {'connected_gene': 'ANAPC2', 'score': 10.64}, {'connected_gene': 'LCN12', 'score': 8.09}, {'connected_gene': 'PAXX', 'score': 6.64}, {'connected_gene': 'SAPCD2', 'score': 4.88}, {'connected_gene': 'MIR4479', 'score': 0.37}, {'connected_gene': 'PIR43412', 'score': 0.34}]