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
ENST00000583147	[[9334764, 9334918], [9337190, 9337350], [9359969, 9360069], [9388037, 9388138], [9388361, 9388418], [9396277, 9396544], [9399343, 9400815]]	[[9337227, 9337350], [9359969, 9360069], [9388037, 9388042]]
ENST00000262120	[[9334764, 9334918], [9337190, 9337350], [9359969, 9360069], [9396277, 9396544], [9399343, 9402418]]	[[9337227, 9337350], [9359969, 9360069], [9396277, 9396544], [9399343, 9399525]]
ENST00000581641	[[9334847, 9334918], [9337190, 9337350], [9359969, 9360069], [9396277, 9397065]]	[[9337227, 9337350], [9359969, 9360069], [9396277, 9396609]]
NM_020648	[[9334764, 9334918], [9337190, 9337350], [9359969, 9360069], [9396277, 9396544], [9399343, 9402418]]	[[9337227, 9337350], [9359969, 9360069], [9396277, 9396544], [9399343, 9399525]]

Promoter

Chrom	Start	End	Description
chr18	9334755	9334778	CAGE_peak_2_at_TWSG1_5end
chr18	9334786	9334844	CAGE_peak_1_at_TWSG1_5end
chr18	9334857	9334871	CAGE_peak_3_at_TWSG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I009347	9347887	9349572	0.82	[{'connected_gene': 'RALBP1', 'score': 12.08}, {'connected_gene': 'TWSG1', 'score': 0.39}, {'connected_gene': 'LOC105371980', 'score': 0.22}]
chr18	GH18I009428	9428735	9430187	0.74	[{'connected_gene': 'RALBP1', 'score': 12.93}, {'connected_gene': 'TWSG1', 'score': 7.08}, {'connected_gene': 'LOC105371980', 'score': 0.34}, {'connected_gene': 'GC18P009473', 'score': 0.26}]
chr18	GH18I008943	8943186	8950673	1.52	[{'connected_gene': 'TWSG1', 'score': 1.54}, {'connected_gene': 'PIR38562', 'score': 0.39}, {'connected_gene': 'RPS4XP19', 'score': 0.19}]
chr18	GH18I009184	9184403	9185978	0.58	[{'connected_gene': 'TWSG1', 'score': 18.14}, {'connected_gene': 'NDUFV2', 'score': 6.27}, {'connected_gene': 'ANKRD12', 'score': 0.25}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.25}, {'connected_gene': 'GC18P009243', 'score': 0.23}, {'connected_gene': 'PIR35454', 'score': 0.23}, {'connected_gene': 'ENSG00000265257', 'score': 0.18}]
chr18	GH18I009124	9124897	9127147	0.38	[{'connected_gene': 'TWSG1', 'score': 18.66}, {'connected_gene': 'NDUFV2', 'score': 11.93}, {'connected_gene': 'ENSG00000263847', 'score': 0.39}, {'connected_gene': 'ANKRD12', 'score': 0.39}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.39}, {'connected_gene': 'ENSG00000265257', 'score': 0.34}]
chr18	GH18I009096	9096693	9098238	0.43	[{'connected_gene': 'TWSG1', 'score': 4.41}, {'connected_gene': 'NDUFV2', 'score': 0.44}, {'connected_gene': 'GC18P009075', 'score': 0.34}]
chr18	GH18I009320	9320045	9322209	0.85	[{'connected_gene': 'TWSG1', 'score': 22.09}, {'connected_gene': 'ANKRD12', 'score': 18.32}, {'connected_gene': 'ENSG00000266708', 'score': 16.84}, {'connected_gene': 'LOC102724397', 'score': 0.39}, {'connected_gene': 'ENSG00000273284', 'score': 0.21}]
chr18	GH18I009141	9141680	9142791	0.38	[{'connected_gene': 'TWSG1', 'score': 17.59}, {'connected_gene': 'ANKRD12', 'score': 14.54}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000265257', 'score': 0.28}, {'connected_gene': 'GC18P009243', 'score': 0.15}, {'connected_gene': 'PIR35454', 'score': 0.15}]
chr18	GH18I009433	9433032	9435786	0.92	[{'connected_gene': 'TWSG1', 'score': 7.95}, {'connected_gene': 'LOC105371980', 'score': 0.31}, {'connected_gene': 'GC18P009473', 'score': 0.28}]
chr18	GH18I009415	9415998	9418851	0.97	[{'connected_gene': 'TWSG1', 'score': 10.45}, {'connected_gene': 'LOC105371980', 'score': 0.39}, {'connected_gene': 'GC18P009473', 'score': 0.22}]
chr18	GH18I009365	9365723	9366643	0.87	[{'connected_gene': 'TWSG1', 'score': 10.33}, {'connected_gene': 'LOC105371980', 'score': 0.28}]
chr18	GH18I009337	9337483	9338632	0.63	[{'connected_gene': 'TWSG1', 'score': 0.77}, {'connected_gene': 'LOC105371980', 'score': 0.2}]
chr18	GH18I009380	9380088	9381295	0.2	[{'connected_gene': 'TWSG1', 'score': 38.91}, {'connected_gene': 'LOC105371980', 'score': 0.34}]
chr18	GH18I009420	9420363	9420512	0.2	[{'connected_gene': 'TWSG1', 'score': 5.96}, {'connected_gene': 'LOC105371980', 'score': 0.37}, {'connected_gene': 'GC18P009473', 'score': 0.23}]
chr18	GH18I009413	9413024	9414362	0.51	[{'connected_gene': 'TWSG1', 'score': 4.86}, {'connected_gene': 'LOC105371980', 'score': 0.44}, {'connected_gene': 'GC18P009473', 'score': 0.22}]
chr18	GH18I009333	9333516	9336248	1.98	[{'connected_gene': 'TWSG1', 'score': 575.36}, {'connected_gene': 'LOC102724397', 'score': 550.77}, {'connected_gene': 'ANKRD12', 'score': 22.09}, {'connected_gene': 'ENSG00000266708', 'score': 12.58}, {'connected_gene': 'PPP4R1', 'score': 11.18}, {'connected_gene': 'LOC105371980', 'score': 0.2}]
chr18	GH18I009323	9323894	9324767	0.38	[{'connected_gene': 'TWSG1', 'score': 22.19}, {'connected_gene': 'LOC102724397', 'score': 0.39}, {'connected_gene': 'ENSG00000273284', 'score': 0.21}]
chr18	GH18I009037	9037943	9038859	0.54	[{'connected_gene': 'TWSG1', 'score': 7.76}, {'connected_gene': 'GC18P009021', 'score': 0.37}, {'connected_gene': 'GC18P009075', 'score': 0.28}]
chr18	GH18I009061	9061527	9063007	1.14	[{'connected_gene': 'TWSG1', 'score': 5.15}, {'connected_gene': 'GC18P009075', 'score': 0.39}, {'connected_gene': 'GC18P009021', 'score': 0.26}]
chr18	GH18I009130	9130171	9132687	0.6	[{'connected_gene': 'NDUFV2', 'score': 18.93}, {'connected_gene': 'TWSG1', 'score': 17.34}, {'connected_gene': 'ENSG00000266708', 'score': 16.85}, {'connected_gene': 'ANKRD12', 'score': 14.27}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000263847', 'score': 0.37}, {'connected_gene': 'ENSG00000265257', 'score': 0.31}]
chr18	GH18I009071	9071384	9072787	0.2	[{'connected_gene': 'NDUFV2', 'score': 13.12}, {'connected_gene': 'TWSG1', 'score': 7.74}, {'connected_gene': 'ANKRD12', 'score': 4.89}, {'connected_gene': 'GC18P009075', 'score': 0.77}, {'connected_gene': 'GC18P009021', 'score': 0.23}]
chr18	GH18I009100	9100986	9110799	2.78	[{'connected_gene': 'NDUFV2', 'score': 556.98}, {'connected_gene': 'ANKRD12', 'score': 46.78}, {'connected_gene': 'TWSG1', 'score': 18.08}, {'connected_gene': 'ENSG00000263847', 'score': 13.87}, {'connected_gene': 'ENSG00000266708', 'score': 11.42}, {'connected_gene': 'PPP4R1', 'score': 10.8}, {'connected_gene': 'RAB12', 'score': 1.81}, {'connected_gene': 'ENSG00000265257', 'score': 0.77}]
chr18	GH18I009155	9155412	9159422	0.52	[{'connected_gene': 'NDUFV2', 'score': 17.94}, {'connected_gene': 'ANKRD12', 'score': 17.88}, {'connected_gene': 'TWSG1', 'score': 14.13}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.34}, {'connected_gene': 'ENSG00000265257', 'score': 0.23}, {'connected_gene': 'GC18P009243', 'score': 0.18}, {'connected_gene': 'PIR35454', 'score': 0.18}]
chr18	GH18I009082	9082495	9084578	1.36	[{'connected_gene': 'MTCL1', 'score': 10.29}, {'connected_gene': 'ANKRD12', 'score': 9.33}, {'connected_gene': 'TWSG1', 'score': 7.14}, {'connected_gene': 'GC18P009075', 'score': 0.44}, {'connected_gene': 'NDUFV2', 'score': 0.37}]
chr18	GH18I009067	9067754	9070419	1.43	[{'connected_gene': 'ANKRD12', 'score': 5.74}, {'connected_gene': 'TWSG1', 'score': 5.11}, {'connected_gene': 'GC18P009075', 'score': 0.44}, {'connected_gene': 'GC18P009021', 'score': 0.25}]
chr18	GH18I009133	9133303	9141594	2.53	[{'connected_gene': 'ANKRD12', 'score': 591.77}, {'connected_gene': 'NDUFV2-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000266708', 'score': 28.19}, {'connected_gene': 'NDUFV2', 'score': 18.59}, {'connected_gene': 'TWSG1', 'score': 18.09}, {'connected_gene': 'ENSG00000263847', 'score': 13.61}, {'connected_gene': 'ENSG00000265257', 'score': 0.29}, {'connected_gene': 'GC18P009243', 'score': 0.15}, {'connected_gene': 'PIR35454', 'score': 0.15}]
chr18	GH18I009403	9403466	9405636	1.14	[{'connected_gene': 'LOC105371980', 'score': 550.77}, {'connected_gene': 'TWSG1', 'score': 30.89}]
chr18	GH18I009375	9375218	9375440	0.25	[{'connected_gene': 'LOC105371980', 'score': 0.31}, {'connected_gene': 'TWSG1', 'score': 0.26}]
chr18	GH18I009112	9112602	9121921	1.33	[{'connected_gene': 'ENSG00000263847', 'score': 550.77}, {'connected_gene': 'TWSG1', 'score': 18.08}, {'connected_gene': 'ANKRD12', 'score': 17.91}, {'connected_gene': 'NDUFV2', 'score': 6.35}, {'connected_gene': 'ENSG00000265257', 'score': 0.39}, {'connected_gene': 'NDUFV2-AS1', 'score': 0.37}]
chr18	GH18I008936	8936240	8939370	1.1	[{'connected_gene': 'PIR38562', 'score': 550.77}, {'connected_gene': 'MTCL1', 'score': 10.38}, {'connected_gene': 'TWSG1', 'score': 5.27}, {'connected_gene': 'VAPA', 'score': 4.65}, {'connected_gene': 'GC18P008911', 'score': 0.31}, {'connected_gene': 'RPS4XP19', 'score': 0.18}]