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
NM_001199417	[[36584719, 36584792], [36614345, 36614507], [36617148, 36617176], [36619086, 36619182], [36619358, 36619437], [36619568, 36619623], [36622407, 36623572], [36625384, 36625540], [36625764, 36625876], [36626087, 36626145], [36628103, 36628247], [36633819, 36634137], [36635676, 36635738], [36635993, 36636124], [36638262, 36638384], [36638763, 36638919], [36642302, 36642381], [36646342, 36646416], [36646702, 36646792], [36647647, 36647773], [36654026, 36654068], [36654655, 36654752], [36656838, 36656870], [36666179, 36668628]]	[[36584729, 36584792], [36614345, 36614507], [36617148, 36617176], [36619086, 36619182], [36619358, 36619437], [36619568, 36619623], [36622407, 36623572], [36625384, 36625540], [36625764, 36625876], [36626087, 36626145], [36628103, 36628247], [36633819, 36634137], [36635676, 36635738], [36635993, 36636124], [36638262, 36638384], [36638763, 36638919], [36642302, 36642381], [36646342, 36646416], [36646702, 36646792], [36647647, 36647773], [36654026, 36654068], [36654655, 36654752], [36656838, 36656870], [36666179, 36667208]]

Promoter

Chrom	Start	End	Description
chr17	36584486	36584513	CAGE_peak_3_at_ARHGAP23_5end
chr17	36584700	36584724	CAGE_peak_1_at_ARHGAP23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I038483	38483943	38486003	1.05	[{'connected_gene': 'MED1', 'score': 15.44}, {'connected_gene': 'ARHGAP23', 'score': 12.33}, {'connected_gene': 'SOCS7', 'score': 11.39}, {'connected_gene': 'SNORA21', 'score': 10.35}, {'connected_gene': 'CDK12', 'score': 10.2}, {'connected_gene': 'RPL23', 'score': 10.17}, {'connected_gene': 'GC17P038487', 'score': 0.77}, {'connected_gene': 'PIR32449', 'score': 0.39}]
chr17	GH17I038462	38462513	38467101	1.32	[{'connected_gene': 'MED1', 'score': 14.21}, {'connected_gene': 'GC17P038499', 'score': 0.44}, {'connected_gene': 'ENSG00000276170', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.25}]
chr17	GH17I038432	38432749	38433115	0.42	[{'connected_gene': 'ARHGAP23', 'score': 4.03}, {'connected_gene': 'SRCIN1', 'score': 2.64}, {'connected_gene': 'GC17P038495', 'score': 0.77}, {'connected_gene': 'GC17M038445', 'score': 0.39}, {'connected_gene': 'PIR40196', 'score': 0.39}]
chr17	GH17I038439	38439042	38439951	0.2	[{'connected_gene': 'ARHGAP23', 'score': 18.44}, {'connected_gene': 'CISD3', 'score': 10.46}, {'connected_gene': 'GC17M038445', 'score': 0.44}, {'connected_gene': 'PIR40196', 'score': 0.44}, {'connected_gene': 'GC17P038495', 'score': 0.44}]
chr17	GH17I038486	38486040	38486189	0.72	[{'connected_gene': 'ARHGAP23', 'score': 12.33}, {'connected_gene': 'SOCS7', 'score': 11.39}, {'connected_gene': 'GC17P038487', 'score': 0.77}, {'connected_gene': 'PIR32449', 'score': 0.39}]
chr17	GH17I038425	38424849	38430804	2.24	[{'connected_gene': 'ARHGAP23', 'score': 554.81}, {'connected_gene': 'GC17P038495', 'score': 0.77}, {'connected_gene': 'GC17P038497', 'score': 0.77}, {'connected_gene': 'PIR59659', 'score': 0.77}, {'connected_gene': 'GC17M038426', 'score': 0.77}]
chr17	GH17I038442	38442326	38442858	0.43	[{'connected_gene': 'ARHGAP23', 'score': 6.81}, {'connected_gene': 'GC17M038445', 'score': 0.77}, {'connected_gene': 'PIR40196', 'score': 0.77}, {'connected_gene': 'GC17P038495', 'score': 0.39}]
chr17	GH17I038457	38457010	38462143	0.81	[{'connected_gene': 'ARHGAP23', 'score': 6.84}, {'connected_gene': 'ENSG00000276170', 'score': 0.44}, {'connected_gene': 'GC17P038499', 'score': 0.39}]
chr17	GH17I038348	38348978	38349600	1.07	[{'connected_gene': 'GPR179', 'score': 11.97}, {'connected_gene': 'ARHGAP23', 'score': 11.58}, {'connected_gene': 'GC17P038345', 'score': 0.77}, {'connected_gene': 'PIR56504', 'score': 0.77}]
chr17	GH17I038507	38507755	38512140	1.14	[{'connected_gene': 'SOCS7', 'score': 10.81}, {'connected_gene': 'GC17P038504', 'score': 0.44}, {'connected_gene': 'PIR57149', 'score': 0.34}, {'connected_gene': 'ARHGAP23', 'score': 0.16}]
chr17	GH17I038350	38350577	38353321	2.06	[{'connected_gene': 'SOCS7', 'score': 550.77}, {'connected_gene': 'PIR56504', 'score': 550.77}, {'connected_gene': 'GPR179', 'score': 16.48}, {'connected_gene': 'ARHGAP23', 'score': 11.58}]
chr17	GH17I038437	38437773	38438831	0.2	[{'connected_gene': 'SOCS7', 'score': 11.29}, {'connected_gene': 'CISD3', 'score': 10.46}, {'connected_gene': 'ARHGAP23', 'score': 6.46}, {'connected_gene': 'GC17M038445', 'score': 0.44}, {'connected_gene': 'PIR40196', 'score': 0.44}, {'connected_gene': 'GC17P038495', 'score': 0.44}]
chr17	GH17I038567	38565381	38565766	0.59	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 3.48}, {'connected_gene': 'SRCIN1', 'score': 1.63}, {'connected_gene': 'ENSG00000274996', 'score': 0.28}]
chr17	GH17I038657	38657117	38658431	1.34	[{'connected_gene': 'EPOP', 'score': 2.04}, {'connected_gene': 'ARHGAP23', 'score': 2.0}, {'connected_gene': 'SRCIN1', 'score': 1.89}, {'connected_gene': 'GC17M038673', 'score': 0.37}, {'connected_gene': 'GC17M038636', 'score': 0.34}]
chr17	GH17I038416	38416817	38419189	0.87	[{'connected_gene': 'GC17M038418', 'score': 550.77}, {'connected_gene': 'GC17M038417', 'score': 550.77}, {'connected_gene': 'GC17M038410', 'score': 550.77}, {'connected_gene': 'PIR32801', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 550.77}, {'connected_gene': 'MRPL45', 'score': 4.94}]
chr17	GH17I038420	38419200	38419401	1.14	[{'connected_gene': 'GC17M038410', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 550.77}, {'connected_gene': 'GC17M038423', 'score': 0.77}, {'connected_gene': 'PIR51176', 'score': 0.77}]
chr17	GH17I038472	38472353	38472849	0.79	[{'connected_gene': 'PIR48992', 'score': 550.77}, {'connected_gene': 'GC17P038499', 'score': 550.77}, {'connected_gene': 'ENSG00000276170', 'score': 0.34}, {'connected_gene': 'ARHGAP23', 'score': 0.23}]
chr17	GH17I038433	38433196	38435717	0.54	[{'connected_gene': 'GC17P038495', 'score': 0.77}, {'connected_gene': 'GC17M038445', 'score': 0.39}, {'connected_gene': 'PIR40196', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.37}]
chr17	GH17I038435	38435818	38436935	0.49	[{'connected_gene': 'GC17M038445', 'score': 0.44}, {'connected_gene': 'PIR40196', 'score': 0.44}, {'connected_gene': 'GC17P038495', 'score': 0.44}, {'connected_gene': 'ARHGAP23', 'score': 0.37}]
chr17	GH17I038440	38440532	38441938	0.69	[{'connected_gene': 'GC17M038445', 'score': 0.77}, {'connected_gene': 'PIR40196', 'score': 0.77}, {'connected_gene': 'GC17P038495', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.34}]
chr17	GH17I038430	38430902	38432280	0.46	[{'connected_gene': 'GC17P038495', 'score': 550.77}, {'connected_gene': 'GC17M038445', 'score': 0.39}, {'connected_gene': 'PIR40196', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.39}]
chr17	GH17I038443	38443013	38444865	1.24	[{'connected_gene': 'GC17M038445', 'score': 550.77}, {'connected_gene': 'PIR40196', 'score': 550.77}, {'connected_gene': 'GC17P038495', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.34}]
chr17	GH17I038424	38424276	38424427	0.56	[{'connected_gene': 'GC17P038497', 'score': 550.77}, {'connected_gene': 'PIR59659', 'score': 550.77}, {'connected_gene': 'GC17M038426', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 0.44}]
chr17	GH17I038470	38470633	38471866	0.54	[{'connected_gene': 'PIR48992', 'score': 550.77}, {'connected_gene': 'GC17P038499', 'score': 550.77}, {'connected_gene': 'ENSG00000276170', 'score': 0.37}, {'connected_gene': 'ARHGAP23', 'score': 0.23}]
chr17	GH17I038467	38467161	38467202	0.4	[{'connected_gene': 'GC17P038499', 'score': 0.44}, {'connected_gene': 'ENSG00000276170', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.25}]
chr17	GH17I038492	38492120	38492309	0.87	[{'connected_gene': 'PIR32449', 'score': 0.77}, {'connected_gene': 'GC17P038487', 'score': 0.39}, {'connected_gene': 'ARHGAP23', 'score': 0.19}]
chr17	GH17I038468	38467873	38468560	0.66	[{'connected_gene': 'GC17P038499', 'score': 0.77}, {'connected_gene': 'ENSG00000276170', 'score': 0.37}, {'connected_gene': 'ARHGAP23', 'score': 0.25}]
chr17	GH17I038423	38423754	38423923	0.91	[{'connected_gene': 'GC17M038423', 'score': 550.77}, {'connected_gene': 'PIR51176', 'score': 550.77}, {'connected_gene': 'GC17P038497', 'score': 550.77}, {'connected_gene': 'PIR59659', 'score': 550.77}, {'connected_gene': 'GC17M038426', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 0.77}]
chr17	GH17I038471	38470142	38470490	0.69	[{'connected_gene': 'GC17P038499', 'score': 0.77}, {'connected_gene': 'ENSG00000276170', 'score': 0.37}, {'connected_gene': 'ARHGAP23', 'score': 0.23}]
chr17	GH17I038419	38419617	38423178	1.31	[{'connected_gene': 'GC17M038423', 'score': 550.77}, {'connected_gene': 'PIR51176', 'score': 550.77}, {'connected_gene': 'GC17P038497', 'score': 550.77}, {'connected_gene': 'GPR179', 'score': 10.46}, {'connected_gene': 'SRCIN1', 'score': 3.86}, {'connected_gene': 'SOCS7', 'score': 2.43}, {'connected_gene': 'ARHGAP23', 'score': 2.05}]
chr17	GH17I038600	38600370	38603582	1.55	[{'connected_gene': 'ENSG00000274996', 'score': 550.77}, {'connected_gene': 'GC17P038603', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 18.76}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'SRCIN1', 'score': 4.62}, {'connected_gene': 'PIP4K2B', 'score': 2.54}, {'connected_gene': 'SOCS7', 'score': 2.37}, {'connected_gene': 'GPR179', 'score': 1.49}, {'connected_gene': 'ARHGAP23', 'score': 1.27}]
chr17	GH17I038447	38447466	38456827	1.58	[{'connected_gene': 'PIR47370', 'score': 550.77}, {'connected_gene': 'PIR56037', 'score': 550.77}, {'connected_gene': 'ENSG00000276170', 'score': 550.77}, {'connected_gene': 'LOC101929494', 'score': 550.77}, {'connected_gene': 'GC17M038463', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 13.74}, {'connected_gene': 'MED1', 'score': 11.93}, {'connected_gene': 'SNORA21', 'score': 9.78}, {'connected_gene': 'ARHGAP23', 'score': 7.96}, {'connected_gene': 'PIR59508', 'score': 0.77}, {'connected_gene': 'GC17M038495', 'score': 0.77}]