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
ENST00000436881	[[139738866, 139741797]]	[[139738866, 139741797]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I137207	137207464	137207648	0.36	[{'connected_gene': 'TMEM203', 'score': 550.77}, {'connected_gene': 'NDOR1', 'score': 550.77}, {'connected_gene': 'SLC34A3', 'score': 6.13}, {'connected_gene': 'FUT7', 'score': 1.52}, {'connected_gene': 'AJM1', 'score': 1.35}, {'connected_gene': 'RNF208', 'score': 0.39}]
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	GH09I136725	136725412	136729483	1.61	[{'connected_gene': 'SNHG7', 'score': 631.93}, {'connected_gene': 'SNORA17B', 'score': 550.77}, {'connected_gene': 'GC09M136755', 'score': 550.77}, {'connected_gene': 'GC09M136756', 'score': 550.77}, {'connected_gene': 'GC09M136753', 'score': 550.77}, {'connected_gene': 'ENSG00000281808', 'score': 550.77}, {'connected_gene': 'SNORA17A', 'score': 550.77}, {'connected_gene': 'DPH7', 'score': 50.64}, {'connected_gene': 'EHMT1', 'score': 43.65}, {'connected_gene': 'ANAPC2', 'score': 36.66}, {'connected_gene': 'LCN8', 'score': 32.59}, {'connected_gene': 'EXD3', 'score': 30.76}, {'connected_gene': 'INPP5E', 'score': 29.7}, {'connected_gene': 'SEC16A', 'score': 21.48}, {'connected_gene': 'SDCCAG3', 'score': 20.93}, {'connected_gene': 'NPDC1', 'score': 20.48}, {'connected_gene': 'QSOX2', 'score': 19.84}, {'connected_gene': 'MAN1B1', 'score': 19.63}, {'connected_gene': 'CCDC183-AS1', 'score': 19.13}, {'connected_gene': 'NDOR1', 'score': 19.0}, {'connected_gene': 'FAM166A', 'score': 11.79}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.16}, {'connected_gene': 'AJM1', 'score': 10.95}, {'connected_gene': 'SNAPC4', 'score': 10.05}, {'connected_gene': 'STPG3', 'score': 9.75}, {'connected_gene': 'ENSG00000274356', 'score': 0.77}]
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	GH09I136631	136631489	136632162	0.99	[{'connected_gene': 'EHMT1', 'score': 56.46}, {'connected_gene': 'SNHG7', 'score': 38.98}, {'connected_gene': 'SDCCAG3', 'score': 34.19}, {'connected_gene': 'ANAPC2', 'score': 32.34}, {'connected_gene': 'SEC16A', 'score': 27.1}, {'connected_gene': 'DPH7', 'score': 21.45}, {'connected_gene': 'NDOR1', 'score': 13.35}, {'connected_gene': 'LCN6', 'score': 12.28}, {'connected_gene': 'ABCA2', 'score': 12.14}, {'connected_gene': 'MAN1B1', 'score': 11.8}, {'connected_gene': 'LCN10', 'score': 11.78}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.9}, {'connected_gene': 'LINC01451', 'score': 0.39}, {'connected_gene': 'LOC105376325', 'score': 0.39}]
chr9	GH09I136358	136358864	136364338	2.06	[{'connected_gene': 'DNLZ', 'score': 594.92}, {'connected_gene': 'INPP5E', 'score': 45.27}, {'connected_gene': 'ANAPC2', 'score': 25.48}, {'connected_gene': 'SNHG7', 'score': 23.44}, {'connected_gene': 'NPDC1', 'score': 20.45}, {'connected_gene': 'SDCCAG3', 'score': 19.51}, {'connected_gene': 'MAN1B1', 'score': 19.47}, {'connected_gene': 'SNAPC4', 'score': 19.35}, {'connected_gene': 'CARD9', 'score': 15.79}, {'connected_gene': 'AJM1', 'score': 10.87}, {'connected_gene': 'LOC101928525', 'score': 10.58}, {'connected_gene': 'SEC16A', 'score': 10.23}, {'connected_gene': 'QSOX2', 'score': 10.02}, {'connected_gene': 'SAPCD2', 'score': 4.95}, {'connected_gene': 'GC09M136338', 'score': 0.39}, {'connected_gene': 'GPSM1', 'score': 0.29}]
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	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	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	GH09I137422	137422027	137425358	2.27	[{'connected_gene': 'NOXA1', 'score': 569.97}, {'connected_gene': 'EXD3', 'score': 556.49}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.85}, {'connected_gene': 'CACNA1B', 'score': 9.69}, {'connected_gene': 'ENTPD8', 'score': 0.37}]
chr9	GH09I135967	135967064	135968200	1.25	[{'connected_gene': 'SDCCAG3', 'score': 93.42}, {'connected_gene': 'SNHG7', 'score': 80.99}, {'connected_gene': 'INPP5E', 'score': 77.96}, {'connected_gene': 'SEC16A', 'score': 35.57}, {'connected_gene': 'OLFM1', 'score': 13.16}, {'connected_gene': 'LCN6', 'score': 12.18}, {'connected_gene': 'LCN10', 'score': 11.67}, {'connected_gene': 'QSOX2', 'score': 11.47}, {'connected_gene': 'ENSG00000238058', 'score': 11.11}, {'connected_gene': 'AJM1', 'score': 10.85}, {'connected_gene': 'TRAF2', 'score': 10.67}, {'connected_gene': 'SNAPC4', 'score': 10.31}, {'connected_gene': 'RABL6', 'score': 10.23}, {'connected_gene': 'UBAC1', 'score': 0.44}, {'connected_gene': 'GC09P136007', 'score': 0.28}, {'connected_gene': 'PIR44599', 'score': 0.28}, {'connected_gene': 'GC09P136012', 'score': 0.28}, {'connected_gene': 'GC09P136011', 'score': 0.28}, {'connected_gene': 'GC09P136009', 'score': 0.28}, {'connected_gene': 'GC09P136014', 'score': 0.28}, {'connected_gene': 'GC09P136008', 'score': 0.28}, {'connected_gene': 'GC09P136010', 'score': 0.28}]
chr9	GH09I136684	136684804	136689503	2.2	[{'connected_gene': 'AGPAT2', 'score': 559.08}, {'connected_gene': 'DPH7', 'score': 26.69}, {'connected_gene': 'INPP5E', 'score': 20.07}, {'connected_gene': 'EXD3', 'score': 14.9}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.16}, {'connected_gene': 'ANAPC2', 'score': 12.88}, {'connected_gene': 'QSOX2', 'score': 11.45}, {'connected_gene': 'NPDC1', 'score': 10.94}, {'connected_gene': 'AJM1', 'score': 10.93}, {'connected_gene': 'SNAPC4', 'score': 10.33}, {'connected_gene': 'MAN1B1', 'score': 9.69}, {'connected_gene': 'MIR126', 'score': 0.37}]
chr9	GH09I137233	137233373	137243238	2.65	[{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]
chr9	GH09I136524	136524823	136536049	1.61	[{'connected_gene': 'NALT1', 'score': 22.06}, {'connected_gene': 'NOTCH1', 'score': 7.32}, {'connected_gene': 'DNLZ', 'score': 5.47}, {'connected_gene': 'SEC16A', 'score': 4.6}, {'connected_gene': 'AJM1', 'score': 3.28}, {'connected_gene': 'PTGDS', 'score': 2.8}, {'connected_gene': 'LCNL1', 'score': 2.58}, {'connected_gene': 'NACC2', 'score': 1.9}, {'connected_gene': 'CARD9', 'score': 1.5}, {'connected_gene': 'ENSG00000227512', 'score': 0.39}, {'connected_gene': 'MIR4673', 'score': 0.39}]
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	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}]