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
ENST00000368494	[[117996664, 117997248], [118014204, 118014330], [118015193, 118015343], [118024767, 118024867], [118028087, 118031803]]	[[117996833, 117997248], [118014204, 118014330], [118015193, 118015343], [118024767, 118024867], [118028087, 118028178]]
NM_138459	[[117996616, 117997248], [118014204, 118014330], [118015193, 118015343], [118024767, 118024867], [118028087, 118031890]]	[[117996833, 117997248], [118014204, 118014330], [118015193, 118015343], [118024767, 118024867], [118028087, 118028178]]

Promoter

Chrom	Start	End	Description
chr6	117996621	117996640	CAGE_peak_1_at_NUS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I117599	117599427	117604226	2.1	[{'connected_gene': 'GOPC', 'score': 562.02}, {'connected_gene': 'NEPNP', 'score': 550.77}, {'connected_gene': 'NUS1', 'score': 10.82}, {'connected_gene': 'DCBLD1', 'score': 9.51}, {'connected_gene': 'ROS1', 'score': 5.51}, {'connected_gene': 'GC06M117575', 'score': 0.31}]
chr6	GH06I117547	117547444	117551225	1.01	[{'connected_gene': 'GOPC', 'score': 28.9}, {'connected_gene': 'DCBLD1', 'score': 22.42}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'RNU6-253P', 'score': 11.78}, {'connected_gene': 'ROS1', 'score': 10.3}, {'connected_gene': 'NUS1', 'score': 10.22}, {'connected_gene': 'LOC644303', 'score': 10.13}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.34}]
chr6	GH06I117555	117555801	117556025	0.77	[{'connected_gene': 'DCBLD1', 'score': 12.59}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'GOPC', 'score': 11.08}, {'connected_gene': 'RNU6-253P', 'score': 10.82}, {'connected_gene': 'ROS1', 'score': 10.3}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'ENSG00000282218', 'score': 0.37}, {'connected_gene': 'PIR41328', 'score': 0.31}]
chr6	GH06I117556	117556038	117556147	0.57	[{'connected_gene': 'DCBLD1', 'score': 12.59}, {'connected_gene': 'ENSG00000226181', 'score': 12.59}, {'connected_gene': 'GOPC', 'score': 11.08}, {'connected_gene': 'RNU6-253P', 'score': 10.82}, {'connected_gene': 'ROS1', 'score': 10.29}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'ENSG00000282218', 'score': 0.37}, {'connected_gene': 'PIR41328', 'score': 0.31}]
chr6	GH06I117439	117439795	117442811	1.34	[{'connected_gene': 'DCBLD1', 'score': 10.28}, {'connected_gene': 'NUS1', 'score': 9.71}, {'connected_gene': 'ROS1', 'score': 5.35}, {'connected_gene': 'RAP1BP3', 'score': 0.44}, {'connected_gene': 'ENSG00000226181', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.12}]
chr6	GH06I117544	117544443	117545489	0.86	[{'connected_gene': 'DCBLD1', 'score': 11.31}, {'connected_gene': 'ENSG00000226181', 'score': 11.31}, {'connected_gene': 'NUS1', 'score': 10.02}, {'connected_gene': 'GOPC', 'score': 8.23}, {'connected_gene': 'PIR41328', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.31}]
chr6	GH06I117591	117591498	117591647	0.49	[{'connected_gene': 'DCBLD1', 'score': 10.81}, {'connected_gene': 'ENSG00000226181', 'score': 10.81}, {'connected_gene': 'NUS1', 'score': 10.48}, {'connected_gene': 'GOPC', 'score': 0.39}, {'connected_gene': 'GC06M117575', 'score': 0.37}]
chr6	GH06I117615	117615340	117617912	1.03	[{'connected_gene': 'DCBLD1', 'score': 20.12}, {'connected_gene': 'NUS1', 'score': 10.89}, {'connected_gene': 'ENSG00000226181', 'score': 10.62}, {'connected_gene': 'RNU6-253P', 'score': 9.81}, {'connected_gene': 'GOPC', 'score': 9.02}, {'connected_gene': 'PIR51319', 'score': 0.77}, {'connected_gene': 'NEPNP', 'score': 0.39}]
chr6	GH06I117540	117540149	117541513	0.43	[{'connected_gene': 'DCBLD1', 'score': 22.34}, {'connected_gene': 'ENSG00000226181', 'score': 11.32}, {'connected_gene': 'NUS1', 'score': 10.02}, {'connected_gene': 'PIR41328', 'score': 0.39}, {'connected_gene': 'ENSG00000282218', 'score': 0.29}]
chr6	GH06I117545	117545796	117547013	0.2	[{'connected_gene': 'DCBLD1', 'score': 11.31}, {'connected_gene': 'ENSG00000226181', 'score': 11.31}, {'connected_gene': 'RNU6-253P', 'score': 10.54}, {'connected_gene': 'NUS1', 'score': 10.04}, {'connected_gene': 'GOPC', 'score': 8.48}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.31}]
chr6	GH06I117510	117510586	117513837	0.54	[{'connected_gene': 'DCBLD1', 'score': 23.63}, {'connected_gene': 'ENSG00000226181', 'score': 11.26}, {'connected_gene': 'RNU6-253P', 'score': 11.0}, {'connected_gene': 'NUS1', 'score': 9.91}, {'connected_gene': 'PIR41328', 'score': 0.37}, {'connected_gene': 'ENSG00000282218', 'score': 0.21}]
chr6	GH06I117505	117505253	117507014	1.21	[{'connected_gene': 'DCBLD1', 'score': 23.04}, {'connected_gene': 'ENSG00000226181', 'score': 11.27}, {'connected_gene': 'RNU6-253P', 'score': 11.18}, {'connected_gene': 'NUS1', 'score': 9.74}, {'connected_gene': 'PIR41328', 'score': 0.34}, {'connected_gene': 'ENSG00000282218', 'score': 0.2}]
chr6	GH06I118659	118659550	118660886	1.28	[{'connected_gene': 'ASF1A', 'score': 23.3}, {'connected_gene': 'SSXP10', 'score': 14.85}, {'connected_gene': 'MCM9', 'score': 10.48}, {'connected_gene': 'NUS1', 'score': 10.22}, {'connected_gene': 'CEP85L', 'score': 0.25}]
chr6	GH06I117607	117607401	117608000	0.38	[{'connected_gene': 'NUS1', 'score': 11.25}, {'connected_gene': 'DCBLD1', 'score': 11.03}, {'connected_gene': 'ENSG00000226181', 'score': 11.03}, {'connected_gene': 'NEPNP', 'score': 0.77}, {'connected_gene': 'PIR51319', 'score': 0.39}]
chr6	GH06I117614	117614298	117614367	0.38	[{'connected_gene': 'NUS1', 'score': 10.87}, {'connected_gene': 'DCBLD1', 'score': 10.62}, {'connected_gene': 'ENSG00000226181', 'score': 10.62}, {'connected_gene': 'RNU6-253P', 'score': 9.81}, {'connected_gene': 'PIR51319', 'score': 0.44}, {'connected_gene': 'NEPNP', 'score': 0.39}]
chr6	GH06I117674	117674431	117678668	2.07	[{'connected_gene': 'NUS1', 'score': 575.74}, {'connected_gene': 'LOC101927919', 'score': 550.77}, {'connected_gene': 'PIR50962', 'score': 0.15}]
chr6	GH06I117681	117681801	117682200	0.2	[{'connected_gene': 'NUS1', 'score': 0.44}, {'connected_gene': 'PIR50962', 'score': 0.15}]
chr6	GH06I117682	117681201	117681400	0.2	[{'connected_gene': 'NUS1', 'score': 0.44}, {'connected_gene': 'PIR50962', 'score': 0.15}]
chr6	GH06I117529	117529616	117532729	0.65	[{'connected_gene': 'PIR41328', 'score': 550.77}, {'connected_gene': 'DCBLD1', 'score': 11.21}, {'connected_gene': 'ENSG00000226181', 'score': 11.21}, {'connected_gene': 'RNU6-253P', 'score': 10.88}, {'connected_gene': 'NUS1', 'score': 9.6}, {'connected_gene': 'ENSG00000282218', 'score': 0.26}]