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
ENST00000380003	[[27546543, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573428, 27573448]]	[[27548233, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]
ENST00000488117	[[27546552, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573428, 27573446]]	None
ENST00000379997	[[27560498, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573784, 27573864]]	[[27561578, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]
ENST00000379995	[[27561546, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573721, 27573753]]	[[27561578, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]
ENST00000461679	[[27561587, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573706, 27573864]]	None
NM_018325	[[27546543, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573428, 27573491]]	[[27548233, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]
NM_001256054	[[27546543, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573706, 27573864]]	[[27548233, 27548420], [27548554, 27548664], [27550647, 27550705], [27556558, 27556794], [27558488, 27558605], [27560224, 27560297], [27561582, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]
NM_145005	[[27560421, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567162], [27573784, 27573864]]	[[27561578, 27561647], [27562378, 27562474], [27565528, 27565588], [27566674, 27567118]]

Promoter

Chrom	Start	End	Description
chr9	27573392	27573451	CAGE_peak_1_at_C9orf72_5end
chr9	27573452	27573497	CAGE_peak_2_at_C9orf72_5end
chr9	27573651	27573677	CAGE_peak_5_at_C9orf72_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I027336	27336679	27342555	1.13	[{'connected_gene': 'IFT74', 'score': 13.6}, {'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.78}, {'connected_gene': 'EQTN', 'score': 10.61}, {'connected_gene': 'ENSG00000237734', 'score': 9.99}, {'connected_gene': 'C9orf72', 'score': 5.38}, {'connected_gene': 'GC09M027375', 'score': 0.28}]
chr9	GH09I027351	27351130	27352775	1.32	[{'connected_gene': 'IFT74', 'score': 23.72}, {'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 10.5}, {'connected_gene': 'PLAA', 'score': 1.23}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9	GH09I027365	27365018	27373527	1.48	[{'connected_gene': 'MOB3B', 'score': 19.35}, {'connected_gene': 'IFT74', 'score': 15.44}, {'connected_gene': 'ENSG00000237734', 'score': 11.35}, {'connected_gene': 'EQTN', 'score': 10.29}, {'connected_gene': 'IFNK', 'score': 9.85}, {'connected_gene': 'C9orf72', 'score': 7.34}, {'connected_gene': 'PLAA', 'score': 1.22}, {'connected_gene': 'GC09M027375', 'score': 0.44}]
chr9	GH09I027332	27332783	27334059	1.33	[{'connected_gene': 'MOB3B', 'score': 13.98}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.51}, {'connected_gene': 'IFT74', 'score': 5.59}, {'connected_gene': 'C9orf72', 'score': 2.91}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9	GH09I027527	27527075	27530434	2.07	[{'connected_gene': 'MOB3B', 'score': 556.14}, {'connected_gene': 'C9orf72', 'score': 17.08}, {'connected_gene': 'EQTN', 'score': 8.81}, {'connected_gene': 'IFNK', 'score': 0.77}]
chr9	GH09I027507	27507013	27508578	0.2	[{'connected_gene': 'MOB3B', 'score': 28.66}, {'connected_gene': 'C9orf72', 'score': 16.34}, {'connected_gene': 'EQTN', 'score': 9.77}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9	GH09I027538	27538509	27541317	1.25	[{'connected_gene': 'MOB3B', 'score': 19.26}, {'connected_gene': 'C9orf72', 'score': 10.41}, {'connected_gene': 'EQTN', 'score': 10.12}]
chr9	GH09I027482	27482233	27483098	0.54	[{'connected_gene': 'MOB3B', 'score': 17.5}, {'connected_gene': 'C9orf72', 'score': 6.27}, {'connected_gene': 'LOC105376001', 'score': 0.37}, {'connected_gene': 'ENSG00000237734', 'score': 0.16}]
chr9	GH09I027535	27535903	27536072	0.66	[{'connected_gene': 'MOB3B', 'score': 0.44}, {'connected_gene': 'C9orf72', 'score': 0.28}]
chr9	GH09I027533	27533601	27535391	0.31	[{'connected_gene': 'MOB3B', 'score': 19.78}, {'connected_gene': 'C9orf72', 'score': 15.86}]
chr9	GH09I027549	27548623	27549505	0.63	[{'connected_gene': 'IFNK', 'score': 10.16}, {'connected_gene': 'MOB3B', 'score': 0.37}, {'connected_gene': 'C9orf72', 'score': 0.34}]
chr9	GH09I027548	27548203	27548412	0.72	[{'connected_gene': 'IFNK', 'score': 10.16}, {'connected_gene': 'MOB3B', 'score': 0.37}, {'connected_gene': 'C9orf72', 'score': 0.31}]
chr9	GH09I027491	27491303	27491392	0.52	[{'connected_gene': 'IFNK', 'score': 10.64}, {'connected_gene': 'C9orf72', 'score': 5.53}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.28}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9	GH09I027495	27495472	27496989	0.57	[{'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 9.38}, {'connected_gene': 'LOC105376001', 'score': 0.77}, {'connected_gene': 'MOB3B', 'score': 0.29}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9	GH09I027602	27602802	27602852	0.4	[{'connected_gene': 'CTAGE12P', 'score': 0.44}, {'connected_gene': 'C9orf72', 'score': 0.31}]
chr9	GH09I027458	27458780	27466034	1.5	[{'connected_gene': 'C9orf72', 'score': 17.82}, {'connected_gene': 'MOB3B', 'score': 11.21}, {'connected_gene': 'ENSG00000237734', 'score': 10.19}, {'connected_gene': 'IFNK', 'score': 10.14}, {'connected_gene': 'EQTN', 'score': 9.46}, {'connected_gene': 'LOC105376001', 'score': 0.28}]
chr9	GH09I027550	27550545	27552309	0.2	[{'connected_gene': 'C9orf72', 'score': 16.4}, {'connected_gene': 'MOB3B', 'score': 12.3}, {'connected_gene': 'IFNK', 'score': 10.84}, {'connected_gene': 'EQTN', 'score': 10.05}]
chr9	GH09I027501	27501882	27504749	0.2	[{'connected_gene': 'C9orf72', 'score': 14.72}, {'connected_gene': 'MOB3B', 'score': 11.53}, {'connected_gene': 'IFNK', 'score': 11.14}, {'connected_gene': 'LOC105376001', 'score': 0.77}]
chr9	GH09I027505	27505236	27506701	0.2	[{'connected_gene': 'C9orf72', 'score': 15.23}, {'connected_gene': 'MOB3B', 'score': 11.56}, {'connected_gene': 'EQTN', 'score': 10.43}, {'connected_gene': 'ENSG00000237734', 'score': 10.41}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9	GH09I027483	27483543	27485231	0.38	[{'connected_gene': 'C9orf72', 'score': 15.09}, {'connected_gene': 'MOB3B', 'score': 14.4}, {'connected_gene': 'LOC105376001', 'score': 0.39}, {'connected_gene': 'ENSG00000237734', 'score': 0.16}]
chr9	GH09I027563	27563601	27566830	1.51	[{'connected_gene': 'C9orf72', 'score': 36.54}, {'connected_gene': 'MOB3B', 'score': 0.28}]
chr9	GH09I027569	27569363	27569792	0.92	[{'connected_gene': 'C9orf72', 'score': 12.31}, {'connected_gene': 'MOB3B', 'score': 0.28}]
chr9	GH09I027561	27561090	27562635	0.38	[{'connected_gene': 'C9orf72', 'score': 16.89}, {'connected_gene': 'MOB3B', 'score': 0.29}]
chr9	GH09I027571	27571350	27574791	2.22	[{'connected_gene': 'C9orf72', 'score': 566.23}, {'connected_gene': 'MOB3B', 'score': 0.26}]
chr9	GH09I027558	27558070	27559065	0.2	[{'connected_gene': 'C9orf72', 'score': 12.52}, {'connected_gene': 'MOB3B', 'score': 0.31}]
chr9	GH09I027518	27518293	27521173	0.69	[{'connected_gene': 'C9orf72', 'score': 15.37}, {'connected_gene': 'IFNK', 'score': 0.77}, {'connected_gene': 'MOB3B', 'score': 0.39}, {'connected_gene': 'LOC105376001', 'score': 0.34}]
chr9	GH09I027515	27515556	27517293	0.2	[{'connected_gene': 'C9orf72', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.39}, {'connected_gene': 'LOC105376001', 'score': 0.37}]
chr9	GH09I027581	27581905	27583023	0.58	[{'connected_gene': 'C9orf72', 'score': 10.32}, {'connected_gene': 'IFNK', 'score': 5.23}, {'connected_gene': 'CTAGE12P', 'score': 0.31}]
chr9	GH09I027487	27487330	27490366	1.04	[{'connected_gene': 'C9orf72', 'score': 16.32}, {'connected_gene': 'IFNK', 'score': 10.63}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'MOB3B', 'score': 0.26}, {'connected_gene': 'ENSG00000237734', 'score': 0.15}]
chr9	GH09I027466	27466684	27466923	0.44	[{'connected_gene': 'C9orf72', 'score': 12.62}, {'connected_gene': 'IFNK', 'score': 10.38}, {'connected_gene': 'LOC105376001', 'score': 0.29}, {'connected_gene': 'MOB3B', 'score': 0.21}, {'connected_gene': 'ENSG00000237734', 'score': 0.18}]
chr9	GH09I027586	27586001	27587000	1.02	[{'connected_gene': 'C9orf72', 'score': 24.19}, {'connected_gene': 'CTAGE12P', 'score': 0.34}]
chr9	GH09I027588	27588201	27588800	0.92	[{'connected_gene': 'C9orf72', 'score': 0.39}, {'connected_gene': 'CTAGE12P', 'score': 0.34}]
chr9	GH09I027598	27598801	27600665	1.17	[{'connected_gene': 'C9orf72', 'score': 29.96}, {'connected_gene': 'CTAGE12P', 'score': 0.39}]
chr9	GH09I027591	27591204	27591629	0.65	[{'connected_gene': 'C9orf72', 'score': 26.87}, {'connected_gene': 'CTAGE12P', 'score': 0.37}]
chr9	GH09I027590	27590692	27590964	0.51	[{'connected_gene': 'C9orf72', 'score': 16.93}, {'connected_gene': 'CTAGE12P', 'score': 0.34}]
chr9	GH09I027601	27601801	27602603	0.77	[{'connected_gene': 'C9orf72', 'score': 11.5}, {'connected_gene': 'CTAGE12P', 'score': 0.44}]
chr9	GH09I027658	27658985	27659270	0.33	[{'connected_gene': 'C9orf72', 'score': 8.34}, {'connected_gene': 'ENSG00000260390', 'score': 5.29}, {'connected_gene': 'LOC105376002', 'score': 0.44}, {'connected_gene': 'CTAGE12P', 'score': 0.25}]
chr9	GH09I027733	27733801	27733933	0.22	[{'connected_gene': 'C9orf72', 'score': 2.31}, {'connected_gene': 'PIR63026', 'score': 0.22}, {'connected_gene': 'ENSG00000260390', 'score': 0.15}]
chr9	GH09I027497	27497744	27500471	1.05	[{'connected_gene': 'LOC105376001', 'score': 550.77}, {'connected_gene': 'C9orf72', 'score': 14.81}, {'connected_gene': 'MOB3B', 'score': 11.51}, {'connected_gene': 'IFNK', 'score': 11.1}]