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
ENST00000555917	[[70320847, 70321057], [70325222, 70325363], [70330878, 70330931], [70418854, 70419020]]	None
ENST00000361956	[[70346132, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496958, 70497444]]	[[70346395, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496958, 70496975]]
ENST00000381280	[[70346142, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496961, 70499083]]	[[70346395, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496961, 70496975]]
ENST00000553839	[[70418853, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444805]]	None
ENST00000557483	[[70460955, 70461197], [70477470, 70477663], [70478201, 70478285]]	None
NM_022137	[[70346113, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496961, 70499083]]	[[70346395, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496961, 70496975]]
NM_001034852	[[70346113, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496958, 70499083]]	[[70346395, 70346494], [70418854, 70419020], [70420136, 70420249], [70442431, 70442531], [70444634, 70444682], [70459133, 70459190], [70461116, 70461197], [70477470, 70477663], [70478201, 70478284], [70480102, 70480208], [70489919, 70490164], [70496958, 70496975]]

Promoter

Chrom	Start	End	Description
chr14	70346125	70346139	CAGE_peak_1_at_SMOC1_5end
chr14	70496936	70496939	CAGE_peak_3_at_SMOC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I069738	69738511	69739512	0.54	[{'connected_gene': 'SUSD6', 'score': 11.97}, {'connected_gene': 'SLC10A1', 'score': 11.13}, {'connected_gene': 'ENSG00000221060', 'score': 10.94}, {'connected_gene': 'SMOC1', 'score': 4.53}, {'connected_gene': 'SRSF5', 'score': 0.39}, {'connected_gene': 'LOC100289511', 'score': 0.31}]
chr14	GH14I069814	69814218	69815730	0.38	[{'connected_gene': 'SUSD6', 'score': 9.87}, {'connected_gene': 'SLC10A1', 'score': 5.65}, {'connected_gene': 'LOC100506358', 'score': 0.77}, {'connected_gene': 'SMOC1', 'score': 0.28}]
chr14	GH14I069682	69682002	69687065	1.5	[{'connected_gene': 'SUSD6', 'score': 22.29}, {'connected_gene': 'SRSF5', 'score': 17.83}, {'connected_gene': 'SMOC1', 'score': 5.32}, {'connected_gene': 'GC14P069678', 'score': 0.44}, {'connected_gene': 'PIR54293', 'score': 0.31}]
chr14	GH14I069609	69609875	69622086	2.66	[{'connected_gene': 'SUSD6', 'score': 563.9}, {'connected_gene': 'ENSG00000273797', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 19.77}, {'connected_gene': 'MED6', 'score': 11.62}, {'connected_gene': 'SMOC1', 'score': 4.34}, {'connected_gene': 'DCAF5', 'score': 4.1}]
chr14	GH14I069921	69921184	69921333	0.31	[{'connected_gene': 'SLC10A1', 'score': 10.64}, {'connected_gene': 'RPL7AP6', 'score': 0.28}, {'connected_gene': 'SMOC1', 'score': 0.2}, {'connected_gene': 'GC14M069988', 'score': 0.19}]
chr14	GH14I069464	69464194	69465705	0.46	[{'connected_gene': 'GALNT16', 'score': 20.93}, {'connected_gene': 'SLC39A9', 'score': 10.88}, {'connected_gene': 'ERH', 'score': 10.88}, {'connected_gene': 'SRSF5', 'score': 9.82}, {'connected_gene': 'SMOC1', 'score': 4.69}, {'connected_gene': 'PLEKHD1', 'score': 0.37}]
chr14	GH14I070002	70002704	70002853	1.06	[{'connected_gene': 'SMOC1', 'score': 10.91}, {'connected_gene': 'SLC10A1', 'score': 10.25}, {'connected_gene': 'GC14M069988', 'score': 0.39}, {'connected_gene': 'GC14M070040', 'score': 0.28}]
chr14	GH14I070003	70002404	70002553	0.76	[{'connected_gene': 'SMOC1', 'score': 24.99}, {'connected_gene': 'SLC10A1', 'score': 10.25}, {'connected_gene': 'GC14M069988', 'score': 0.39}, {'connected_gene': 'GC14M070040', 'score': 0.28}]
chr14	GH14I070018	70018401	70019527	0.86	[{'connected_gene': 'SMOC1', 'score': 23.81}, {'connected_gene': 'ENSG00000221060', 'score': 10.88}, {'connected_gene': 'SLC10A1', 'score': 10.22}, {'connected_gene': 'GC14M070040', 'score': 0.34}, {'connected_gene': 'GC14M069988', 'score': 0.31}]
chr14	GH14I070004	70004722	70006182	1.11	[{'connected_gene': 'SMOC1', 'score': 13.15}, {'connected_gene': 'SLC8A3', 'score': 10.11}, {'connected_gene': 'GC14M069988', 'score': 0.39}, {'connected_gene': 'GC14M070040', 'score': 0.28}]
chr14	GH14I070048	70048004	70048233	0.76	[{'connected_gene': 'SMOC1', 'score': 5.18}, {'connected_gene': 'GC14M070040', 'score': 0.44}, {'connected_gene': 'GC14M070128', 'score': 0.13}, {'connected_gene': 'SLC8A3', 'score': 0.1}]
chr14	GH14I069901	69901144	69902492	0.38	[{'connected_gene': 'SMOC1', 'score': 16.78}, {'connected_gene': 'RPL7AP6', 'score': 0.37}, {'connected_gene': 'GC14M069988', 'score': 0.16}]
chr14	GH14I069941	69941660	69943599	0.69	[{'connected_gene': 'SMOC1', 'score': 11.16}, {'connected_gene': 'GC14M069988', 'score': 0.25}, {'connected_gene': 'RPL7AP6', 'score': 0.22}]
chr14	GH14I069979	69979915	69981433	0.86	[{'connected_gene': 'SMOC1', 'score': 5.57}, {'connected_gene': 'GC14M069988', 'score': 0.39}, {'connected_gene': 'RPL7AP6', 'score': 0.16}]
chr14	GH14I069927	69927631	69928627	0.31	[{'connected_gene': 'SMOC1', 'score': 8.18}, {'connected_gene': 'RPL7AP6', 'score': 0.26}, {'connected_gene': 'GC14M069988', 'score': 0.21}]
chr14	GH14I069882	69882401	69882600	0.38	[{'connected_gene': 'SMOC1', 'score': 11.81}, {'connected_gene': 'RPL7AP6', 'score': 0.77}]
chr14	GH14I069876	69876844	69876993	0.84	[{'connected_gene': 'SMOC1', 'score': 11.73}, {'connected_gene': 'RPL7AP6', 'score': 0.44}]
chr14	GH14I069881	69881255	69881677	0.62	[{'connected_gene': 'SMOC1', 'score': 11.81}, {'connected_gene': 'RPL7AP6', 'score': 0.77}]
chr14	GH14I069937	69937484	69937633	0.75	[{'connected_gene': 'SMOC1', 'score': 15.62}, {'connected_gene': 'GC14M069988', 'score': 0.23}, {'connected_gene': 'RPL7AP6', 'score': 0.23}]
chr14	GH14I069878	69878804	69880921	1.98	[{'connected_gene': 'SMOC1', 'score': 566.68}, {'connected_gene': 'RPL7AP6', 'score': 0.44}]
chr14	GH14I069932	69932063	69932773	0.38	[{'connected_gene': 'SMOC1', 'score': 9.11}, {'connected_gene': 'RPL7AP6', 'score': 0.25}, {'connected_gene': 'GC14M069988', 'score': 0.22}]
chr14	GH14I070012	70012104	70015008	0.63	[{'connected_gene': 'SMOC1', 'score': 18.97}, {'connected_gene': 'TTC9', 'score': 4.64}, {'connected_gene': 'GC14M069988', 'score': 0.34}, {'connected_gene': 'GC14M070040', 'score': 0.31}]
chr14	GH14I069995	69995039	70001691	1.69	[{'connected_gene': 'SMOC1', 'score': 24.83}, {'connected_gene': 'MED6', 'score': 12.34}, {'connected_gene': 'ADAM20', 'score': 11.6}, {'connected_gene': 'SRSF5', 'score': 11.53}, {'connected_gene': 'DCAF5', 'score': 11.25}, {'connected_gene': 'ERH', 'score': 10.96}, {'connected_gene': 'SLC10A1', 'score': 10.34}, {'connected_gene': 'TTC9', 'score': 4.64}, {'connected_gene': 'GC14M069988', 'score': 0.44}, {'connected_gene': 'GC14M070040', 'score': 0.26}]
chr14	GH14I069887	69887004	69887153	0.46	[{'connected_gene': 'RPL7AP6', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 19.75}, {'connected_gene': 'SMOC1', 'score': 11.2}, {'connected_gene': 'SLC10A1', 'score': 10.14}, {'connected_gene': 'ERH', 'score': 9.7}, {'connected_gene': 'GC14M069988', 'score': 0.14}]
chr14	GH14I069661	69661966	69668887	1.18	[{'connected_gene': 'RPL7AP6', 'score': 14.98}, {'connected_gene': 'SRSF5', 'score': 14.14}, {'connected_gene': 'DDX18P1', 'score': 12.78}, {'connected_gene': 'SUSD6', 'score': 12.41}, {'connected_gene': 'MED6', 'score': 11.51}, {'connected_gene': 'DCAF5', 'score': 10.78}, {'connected_gene': 'KRT18P7', 'score': 10.12}, {'connected_gene': 'SMOC1', 'score': 5.14}, {'connected_gene': 'GC14P069678', 'score': 0.39}, {'connected_gene': 'GC14P069648', 'score': 0.37}]
chr14	GH14I069888	69887253	69888753	0.86	[{'connected_gene': 'RPL7AP6', 'score': 550.77}, {'connected_gene': 'SMOC1', 'score': 16.77}, {'connected_gene': 'SLC10A1', 'score': 10.58}, {'connected_gene': 'ENSG00000221060', 'score': 10.32}, {'connected_gene': 'SRSF5', 'score': 10.14}, {'connected_gene': 'GC14M069988', 'score': 0.15}]
chr14	GH14I069886	69886001	69886200	0.5	[{'connected_gene': 'RPL7AP6', 'score': 550.77}, {'connected_gene': 'SMOC1', 'score': 11.2}, {'connected_gene': 'SLC10A1', 'score': 10.14}]
chr14	GH14I069986	69986456	69988512	0.51	[{'connected_gene': 'ADAM20P1', 'score': 10.99}, {'connected_gene': 'ERH', 'score': 10.03}, {'connected_gene': 'SMOC1', 'score': 8.35}, {'connected_gene': 'GC14M069988', 'score': 0.77}, {'connected_gene': 'RPL7AP6', 'score': 0.15}]
chr14	GH14I069818	69818784	69818953	0.74	[{'connected_gene': 'LOC100506358', 'score': 0.44}, {'connected_gene': 'SMOC1', 'score': 0.28}]
chr14	GH14I069827	69827764	69827913	0.2	[{'connected_gene': 'LOC100506358', 'score': 0.37}, {'connected_gene': 'SMOC1', 'score': 0.31}]
chr14	GH14I069848	69848069	69851306	0.93	[{'connected_gene': 'ENSG00000221060', 'score': 11.28}, {'connected_gene': 'SLC10A1', 'score': 10.5}, {'connected_gene': 'SMOC1', 'score': 0.77}, {'connected_gene': 'LOC100506358', 'score': 0.28}]
chr14	GH14I070027	70027924	70028073	0.63	[{'connected_gene': 'ENSG00000221060', 'score': 11.61}, {'connected_gene': 'SMOC1', 'score': 10.4}, {'connected_gene': 'SRSF5', 'score': 10.37}, {'connected_gene': 'GC14M070040', 'score': 0.39}, {'connected_gene': 'GC14M069988', 'score': 0.28}]
chr14	GH14I069991	69991883	69992295	0.4	[{'connected_gene': 'GC14M069988', 'score': 550.77}, {'connected_gene': 'SMOC1', 'score': 12.37}, {'connected_gene': 'ENSG00000221060', 'score': 10.59}, {'connected_gene': 'RPL7AP6', 'score': 0.14}]
chr14	GH14I070008	70008802	70009128	0.51	[{'connected_gene': 'GC14M069988', 'score': 0.37}, {'connected_gene': 'GC14M070040', 'score': 0.29}, {'connected_gene': 'SMOC1', 'score': 0.1}]
chr14	GH14I069985	69985604	69985753	0.8	[{'connected_gene': 'GC14M069988', 'score': 0.44}, {'connected_gene': 'RPL7AP6', 'score': 0.15}, {'connected_gene': 'SMOC1', 'score': 0.12}]