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
ENST00000366963	[[160542820, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160575829, 160575942], [160577006, 160577106], [160579547, 160579750]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160575829, 160575942], [160577006, 160577106], [160579547, 160579614]]
ENST00000539263	[[160542930, 160543378], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160575829, 160575942], [160577006, 160577106], [160579547, 160579614]]	[[160542967, 160543378], [160553263, 160553275]]
ENST00000324965	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160577006, 160577106], [160579547, 160579583]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160577006, 160577106], [160579547, 160579583]]
ENST00000457470	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160579547, 160579614]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160579547, 160579614]]
ENST00000460902	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160564572, 160564681], [160575829, 160575942], [160579547, 160579748]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160564572, 160564573]]
ENST00000540443	[[160550792, 160551239], [160553263, 160553418], [160554988, 160555039]]	[[160553324, 160553418], [160554988, 160555039]]
ENST00000478607	[[160576985, 160577106], [160579547, 160579750]]	None
NM_153187	[[160542862, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160577006, 160577106], [160579547, 160579750]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160577006, 160577106], [160579547, 160579583]]
NM_003057	[[160542862, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160575829, 160575942], [160577006, 160577106], [160579547, 160579750]]	[[160542967, 160543378], [160551135, 160551239], [160553263, 160553418], [160554988, 160555157], [160557251, 160557366], [160557575, 160557682], [160560684, 160560899], [160564572, 160564681], [160575829, 160575942], [160577006, 160577106], [160579547, 160579614]]

Promoter

Chrom	Start	End	Description
chr6	160542841	160542852	CAGE_peak_2_at_SLC22A1_5end
chr6	160542870	160542938	CAGE_peak_1_at_SLC22A1_5end
chr6	160543369	160543379	CAGE_peak_3_at_SLC22A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I159999	159999217	159999730	1.02	[{'connected_gene': 'WTAP', 'score': 16.99}, {'connected_gene': 'LOC729603', 'score': 11.32}, {'connected_gene': 'MAP3K4', 'score': 10.17}, {'connected_gene': 'IGF2R', 'score': 9.17}, {'connected_gene': 'SLC22A1', 'score': 5.45}, {'connected_gene': 'AIRN', 'score': 0.44}]
chr6	GH06I160160	160160469	160160678	0.72	[{'connected_gene': 'LPAL2', 'score': 5.17}, {'connected_gene': 'ENSG00000216516', 'score': 0.77}, {'connected_gene': 'SLC22A1', 'score': 0.28}]
chr6	GH06I160024	160024398	160025292	0.38	[{'connected_gene': 'LOC729603', 'score': 5.58}, {'connected_gene': 'SLC22A1', 'score': 4.47}, {'connected_gene': 'AIRN', 'score': 0.37}, {'connected_gene': 'GC06P160073', 'score': 0.25}, {'connected_gene': 'IGF2R', 'score': 0.22}]
chr6	GH06I160027	160027120	160032212	0.89	[{'connected_gene': 'LOC729603', 'score': 5.06}, {'connected_gene': 'SLC22A1', 'score': 4.81}, {'connected_gene': 'AIRN', 'score': 0.34}, {'connected_gene': 'GC06P160073', 'score': 0.26}, {'connected_gene': 'IGF2R', 'score': 0.21}]
chr6	GH06I160088	160088145	160091829	0.56	[{'connected_gene': 'SLC22A1', 'score': 21.6}, {'connected_gene': 'LOC729603', 'score': 13.73}, {'connected_gene': 'MAS1', 'score': 10.72}, {'connected_gene': 'ENSG00000236823', 'score': 10.71}, {'connected_gene': 'GC06P160076', 'score': 0.39}, {'connected_gene': 'PIR43380', 'score': 0.39}, {'connected_gene': 'GC06P160073', 'score': 0.37}, {'connected_gene': 'IGF2R', 'score': 0.13}]
chr6	GH06I160103	160103449	160103558	0.54	[{'connected_gene': 'SLC22A1', 'score': 13.65}, {'connected_gene': 'GC06P160109', 'score': 0.77}, {'connected_gene': 'LOC729603', 'score': 0.39}, {'connected_gene': 'IGF2R', 'score': 0.12}]
chr6	GH06I160035	160035087	160038345	0.58	[{'connected_gene': 'SLC22A1', 'score': 5.9}, {'connected_gene': 'LOC729603', 'score': 4.77}, {'connected_gene': 'AIRN', 'score': 0.31}, {'connected_gene': 'GC06P160073', 'score': 0.28}, {'connected_gene': 'IGF2R', 'score': 0.2}]
chr6	GH06I160330	160330091	160331031	0.2	[{'connected_gene': 'SLC22A1', 'score': 4.66}, {'connected_gene': 'SLC22A3', 'score': 0.37}, {'connected_gene': 'SLC22A2', 'score': 0.23}]
chr6	GH06I160137	160137155	160137868	0.91	[{'connected_gene': 'SLC22A1', 'score': 11.45}, {'connected_gene': 'SLC22A3', 'score': 10.31}, {'connected_gene': 'ENSG00000216516', 'score': 0.31}]
chr6	GH06I160138	160138079	160140037	1.06	[{'connected_gene': 'SLC22A1', 'score': 11.45}, {'connected_gene': 'SLC22A3', 'score': 10.31}, {'connected_gene': 'ENSG00000216516', 'score': 0.34}]
chr6	GH06I160134	160134726	160136354	0.68	[{'connected_gene': 'SLC22A1', 'score': 11.48}, {'connected_gene': 'SLC22A3', 'score': 10.31}, {'connected_gene': 'ENSG00000216516', 'score': 0.31}]
chr6	GH06I160111	160111429	160112282	0.46	[{'connected_gene': 'SLC22A1', 'score': 16.42}, {'connected_gene': 'GC06P160109', 'score': 0.77}, {'connected_gene': 'IGF2R', 'score': 0.11}]
chr6	GH06I159440	159440468	159441465	0.9	[{'connected_gene': 'SLC22A1', 'score': 4.4}, {'connected_gene': 'PIR47548', 'score': 0.37}, {'connected_gene': 'LOC101929142', 'score': 0.34}]
chr6	GH06I160041	160041108	160044278	1.26	[{'connected_gene': 'SLC22A1', 'score': 4.87}, {'connected_gene': 'GC06P160073', 'score': 0.29}, {'connected_gene': 'AIRN', 'score': 0.28}, {'connected_gene': 'IGF2R', 'score': 0.19}]
chr6	GH06I160124	160124669	160125799	0.83	[{'connected_gene': 'SLC22A1', 'score': 0.77}, {'connected_gene': 'ENSG00000216516', 'score': 0.28}]
chr6	GH06I160121	160121837	160121896	0.79	[{'connected_gene': 'SLC22A1', 'score': 550.77}, {'connected_gene': 'ENSG00000216516', 'score': 0.26}]
chr6	GH06I160141	160141017	160142062	0.56	[{'connected_gene': 'SLC22A1', 'score': 0.37}, {'connected_gene': 'ENSG00000216516', 'score': 0.34}]
chr6	GH06I160003	160003566	160005298	0.38	[{'connected_gene': 'MAS1', 'score': 11.0}, {'connected_gene': 'ENSG00000236823', 'score': 10.99}, {'connected_gene': 'IGF2R', 'score': 8.72}, {'connected_gene': 'SLC22A1', 'score': 6.61}, {'connected_gene': 'AIRN', 'score': 0.77}]
chr6	GH06I159972	159972191	159975599	1.65	[{'connected_gene': 'IGF2R', 'score': 40.61}, {'connected_gene': 'WTAP', 'score': 18.75}, {'connected_gene': 'SOD2', 'score': 16.07}, {'connected_gene': 'SLC22A1', 'score': 5.68}, {'connected_gene': 'LOC729603', 'score': 5.0}, {'connected_gene': 'MAS1', 'score': 2.64}, {'connected_gene': 'AIRN', 'score': 0.29}]
chr6	GH06I159975	159975965	159986200	1.76	[{'connected_gene': 'IGF2R', 'score': 32.83}, {'connected_gene': 'WTAP', 'score': 25.16}, {'connected_gene': 'MAS1', 'score': 12.26}, {'connected_gene': 'SOD2', 'score': 12.13}, {'connected_gene': 'ENSG00000236823', 'score': 10.3}, {'connected_gene': 'SLC22A1', 'score': 7.07}, {'connected_gene': 'AIRN', 'score': 0.31}]
chr6	GH06I160013	160013944	160017055	0.74	[{'connected_gene': 'IGF2R', 'score': 8.0}, {'connected_gene': 'LOC729603', 'score': 5.97}, {'connected_gene': 'SLC22A1', 'score': 4.86}, {'connected_gene': 'AIRN', 'score': 0.44}, {'connected_gene': 'GC06P160073', 'score': 0.22}]
chr6	GH06I159988	159988552	159990814	1.6	[{'connected_gene': 'IGF2R', 'score': 39.9}, {'connected_gene': 'MAS1', 'score': 13.9}, {'connected_gene': 'WTAP', 'score': 10.08}, {'connected_gene': 'ENSG00000236823', 'score': 9.95}, {'connected_gene': 'SOD2', 'score': 7.71}, {'connected_gene': 'SLC22A1', 'score': 5.82}, {'connected_gene': 'AIRN', 'score': 0.37}]
chr6	GH06I159966	159966001	159971454	2.45	[{'connected_gene': 'IGF2R', 'score': 587.14}, {'connected_gene': 'MAS1', 'score': 10.73}, {'connected_gene': 'ENSG00000236823', 'score': 10.72}, {'connected_gene': 'SLC22A1', 'score': 5.2}, {'connected_gene': 'LOC729603', 'score': 4.89}, {'connected_gene': 'LOC105378087', 'score': 0.23}]
chr6	GH06I159819	159819410	159821478	0.77	[{'connected_gene': 'MRPL18', 'score': 16.75}, {'connected_gene': 'PNLDC1', 'score': 12.35}, {'connected_gene': 'TCP1', 'score': 11.81}, {'connected_gene': 'SNORA29', 'score': 11.81}, {'connected_gene': 'SNORA20', 'score': 10.64}, {'connected_gene': 'ACAT2', 'score': 10.58}, {'connected_gene': 'SOD2-OT1', 'score': 10.32}, {'connected_gene': 'SOD2', 'score': 10.32}, {'connected_gene': 'SLC22A1', 'score': 6.31}, {'connected_gene': 'IGF2R', 'score': 5.4}, {'connected_gene': 'PIR41853', 'score': 0.44}, {'connected_gene': 'GC06P159828', 'score': 0.44}]
chr6	GH06I160006	160006001	160006434	0.75	[{'connected_gene': 'AIRN', 'score': 550.77}, {'connected_gene': 'MAP3K4', 'score': 18.46}, {'connected_gene': 'MAS1', 'score': 10.36}, {'connected_gene': 'ENSG00000236823', 'score': 10.35}, {'connected_gene': 'WTAP', 'score': 10.09}, {'connected_gene': 'SLC22A1', 'score': 6.03}, {'connected_gene': 'IGF2R', 'score': 0.28}]