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
ENST00000371661	[[139743175, 139743232], [139743562, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745474]]	[[139743882, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745241]]
ENST00000545326	[[139743255, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745488]]	[[139743882, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745241]]
ENST00000492540	[[139743542, 139744042], [139744464, 139745012], [139745206, 139745474]]	None
ENST00000247665	[[139743545, 139744042], [139744464, 139744589], [139745206, 139745474]]	[[139743882, 139744042], [139744464, 139744589], [139745206, 139745299]]
ENST00000462205	[[139743876, 139744042], [139744464, 139744589], [139744954, 139745012], [139745206, 139745476]]	None
ENST00000497413	[[139743877, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745479]]	None
ENST00000463215	[[139744230, 139744589], [139745206, 139745474]]	None
NR_109808	[[139743267, 139744025], [139744464, 139744589], [139745206, 139745495]]	None
NM_014172	[[139743267, 139744042], [139744464, 139744589], [139745206, 139745495]]	[[139743882, 139744042], [139744464, 139744589], [139745206, 139745299]]
NM_001135861	[[139743267, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745495]]	[[139743882, 139744042], [139744464, 139744589], [139744957, 139745012], [139745206, 139745241]]
NM_001287343	[[139743267, 139744042], [139744464, 139744589], [139744954, 139745012], [139745206, 139745495]]	[[139743882, 139744042], [139744464, 139744589], [139744954, 139745012], [139745206, 139745241]]
NR_109807	[[139743267, 139744042], [139744464, 139745012], [139745206, 139745495]]	None
NM_001287342	[[139743267, 139744048], [139744464, 139744589], [139745206, 139745495]]	[[139743882, 139744048], [139744464, 139744589], [139745206, 139745299]]

Promoter

Chrom	Start	End	Description
chr9	139742371	139742431	CAGE_peak_3_at_PHPT1_5end
chr9	139742445	139742492	CAGE_peak_4_at_PHPT1_5end
chr9	139743213	139743252	CAGE_peak_6_at_PHPT1_5end
chr9	139743825	139743834	CAGE_peak_7_at_PHPT1_5end
chr9	139743853	139743878	CAGE_peak_1_at_PHPT1_5end
chr9	139744155	139744222	CAGE_peak_2_at_PHPT1_5end
chr9	139744237	139744257	CAGE_peak_8_at_PHPT1_5end
chr9	139744264	139744275	CAGE_peak_10_at_PHPT1_5end
chr9	139744298	139744325	CAGE_peak_5_at_PHPT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I136822	136821400	136821601	0.81	[{'connected_gene': 'DPH7', 'score': 16.98}, {'connected_gene': 'INPP5E', 'score': 16.39}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.81}, {'connected_gene': 'EXD3', 'score': 13.2}, {'connected_gene': 'CCDC183', 'score': 12.55}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'SNAPC4', 'score': 11.88}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'ANAPC2', 'score': 11.32}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'CCDC183-AS1', 'score': 10.16}, {'connected_gene': 'MAN1B1', 'score': 9.93}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9	GH09I136864	136864894	136867217	2.01	[{'connected_gene': 'EDF1', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 29.59}, {'connected_gene': 'SDCCAG3', 'score': 25.73}, {'connected_gene': 'ANAPC2', 'score': 22.17}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'INPP5E', 'score': 13.69}, {'connected_gene': 'DPH7', 'score': 12.41}, {'connected_gene': 'PHPT1', 'score': 11.73}, {'connected_gene': 'RABL6', 'score': 10.43}, {'connected_gene': 'LCN12', 'score': 8.56}, {'connected_gene': 'LCNL1', 'score': 6.23}, {'connected_gene': 'MAMDC4', 'score': 0.37}]
chr9	GH09I136821	136821669	136821838	0.2	[{'connected_gene': 'CCDC183', 'score': 18.27}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9	GH09I136823	136821909	136822058	0.2	[{'connected_gene': 'CCDC183', 'score': 12.55}, {'connected_gene': 'AJM1', 'score': 12.27}, {'connected_gene': 'MAMDC4', 'score': 12.24}, {'connected_gene': 'PHPT1', 'score': 12.24}, {'connected_gene': 'LCN12', 'score': 11.68}, {'connected_gene': 'FBXW5', 'score': 11.59}, {'connected_gene': 'C8G', 'score': 11.59}, {'connected_gene': 'MIR4292', 'score': 0.44}, {'connected_gene': 'NCLP1', 'score': 0.44}, {'connected_gene': 'RABL6', 'score': 0.39}, {'connected_gene': 'ENSG00000272679', 'score': 0.34}]
chr9	GH09I136839	136839509	136843998	1.7	[{'connected_gene': 'INPP5E', 'score': 20.05}, {'connected_gene': 'DPH7', 'score': 17.91}, {'connected_gene': 'EXD3', 'score': 14.9}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.16}, {'connected_gene': 'ANAPC2', 'score': 12.9}, {'connected_gene': 'TRAF2', 'score': 12.57}, {'connected_gene': 'RABL6', 'score': 12.56}, {'connected_gene': 'CCDC183', 'score': 12.51}, {'connected_gene': 'QSOX2', 'score': 11.43}, {'connected_gene': 'SNAPC4', 'score': 10.31}, {'connected_gene': 'MAN1B1', 'score': 9.7}, {'connected_gene': 'PHPT1', 'score': 5.47}, {'connected_gene': 'AJM1', 'score': 0.77}, {'connected_gene': 'MIR4292', 'score': 0.39}]
chr9	GH09I136906	136906400	136908034	0.49	[{'connected_gene': 'INPP5E', 'score': 10.56}, {'connected_gene': 'EXD3', 'score': 10.25}, {'connected_gene': 'PHPT1', 'score': 9.78}, {'connected_gene': 'PIR43412', 'score': 0.37}, {'connected_gene': 'MIR4479', 'score': 0.34}, {'connected_gene': 'TRAF2', 'score': 0.31}]
chr9	GH09I136846	136846758	136862792	2.28	[{'connected_gene': 'PHPT1', 'score': 561.19}, {'connected_gene': 'MAMDC4', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 29.94}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'ANAPC2', 'score': 11.8}, {'connected_gene': 'DPH7', 'score': 10.62}, {'connected_gene': 'LCN12', 'score': 8.45}, {'connected_gene': 'DPP7', 'score': 5.17}, {'connected_gene': 'EDF1', 'score': 0.39}, {'connected_gene': 'AJM1', 'score': 0.39}]
chr9	GH09I136904	136904596	136905597	0.31	[{'connected_gene': 'PHPT1', 'score': 10.65}, {'connected_gene': 'MIR4479', 'score': 0.37}, {'connected_gene': 'PIR43412', 'score': 0.37}, {'connected_gene': 'TRAF2', 'score': 0.34}]
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	GH09I136884	136884710	136887839	2.23	[{'connected_gene': 'MIR4479', 'score': 550.77}, {'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'LOC105376326', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.48}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'ANAPC2', 'score': 22.04}, {'connected_gene': 'PHPT1', 'score': 21.75}, {'connected_gene': 'SNHG7', 'score': 16.35}, {'connected_gene': 'LOC651337', 'score': 15.58}, {'connected_gene': 'MAMDC4', 'score': 12.44}, {'connected_gene': 'AJM1', 'score': 12.42}, {'connected_gene': 'FBXW5', 'score': 11.85}, {'connected_gene': 'C8G', 'score': 11.85}, {'connected_gene': 'LCN12', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'PRR31', 'score': 11.74}, {'connected_gene': 'CCDC183-AS1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.55}, {'connected_gene': 'CCDC183', 'score': 11.54}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'EXD3', 'score': 10.7}, {'connected_gene': 'MAN1B1', 'score': 10.32}, {'connected_gene': 'DPP7', 'score': 10.31}, {'connected_gene': 'GRIN1', 'score': 10.31}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'DPH7', 'score': 9.84}, {'connected_gene': 'LCNL1', 'score': 5.9}]
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}]
chr9	GH09I136881	136881316	136884008	1.4	[{'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'PHPT1', 'score': 23.32}, {'connected_gene': 'MAMDC4', 'score': 12.46}, {'connected_gene': 'AJM1', 'score': 12.44}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'LCN12', 'score': 11.77}, {'connected_gene': 'PRR31', 'score': 11.73}, {'connected_gene': 'FBXW5', 'score': 11.6}, {'connected_gene': 'C8G', 'score': 11.6}, {'connected_gene': 'RABL6', 'score': 11.39}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'CCDC183-AS1', 'score': 10.91}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'ANAPC2', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'LOC105376326', 'score': 0.77}]
chr9	GH09I136932	136932209	136932398	0.77	[{'connected_gene': 'TRAF2', 'score': 13.4}, {'connected_gene': 'MAMDC4', 'score': 11.84}, {'connected_gene': 'PHPT1', 'score': 11.84}, {'connected_gene': 'AJM1', 'score': 11.83}, {'connected_gene': 'RABL6', 'score': 11.38}, {'connected_gene': 'CCDC183', 'score': 11.37}, {'connected_gene': 'CCDC183-AS1', 'score': 11.25}, {'connected_gene': 'LCNL1', 'score': 1.5}, {'connected_gene': 'NDOR1', 'score': 1.25}, {'connected_gene': 'NOTCH1', 'score': 1.19}, {'connected_gene': 'ENSG00000213590', 'score': 0.77}, {'connected_gene': 'PIR56768', 'score': 0.44}]
chr9	GH09I136925	136925501	136929001	1.16	[{'connected_gene': 'PIR33871', 'score': 550.77}, {'connected_gene': 'PIR56768', 'score': 550.77}, {'connected_gene': 'LCN12', 'score': 26.66}, {'connected_gene': 'TRAF2', 'score': 17.91}, {'connected_gene': 'CCDC183', 'score': 15.94}, {'connected_gene': 'PRR31', 'score': 12.3}, {'connected_gene': 'MAMDC4', 'score': 11.85}, {'connected_gene': 'PHPT1', 'score': 11.85}, {'connected_gene': 'AJM1', 'score': 11.84}, {'connected_gene': 'RABL6', 'score': 11.38}, {'connected_gene': 'CCDC183-AS1', 'score': 11.25}, {'connected_gene': 'LCNL1', 'score': 5.72}, {'connected_gene': 'ENSG00000213590', 'score': 0.44}]