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
ENST00000467125	[[117639373, 117639415], [117641030, 117641193], [117642379, 117642557], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894734]]	None
ENST00000368498	[[117881431, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117898610, 117898634], [117900062, 117900227], [117923166, 117923527]]	[[117884416, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117898610, 117898634], [117900062, 117900227], [117923166, 117923451]]
ENST00000535237	[[117881431, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894799], [117896343, 117896515], [117896676, 117896692], [117900054, 117900227], [117923166, 117923681]]	[[117884416, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894799], [117896343, 117896515], [117896676, 117896692], [117900054, 117900227], [117923166, 117923451]]
ENST00000052569	[[117881431, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117900062, 117900227], [117923166, 117923691]]	[[117884416, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117900062, 117900227], [117923166, 117923451]]
NM_020399	[[117881431, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117898610, 117898634], [117900062, 117900227], [117923166, 117923705]]	[[117884416, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117898610, 117898634], [117900062, 117900227], [117923166, 117923451]]
NM_001017408	[[117881431, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117900062, 117900227], [117923166, 117923705]]	[[117884416, 117884547], [117888016, 117888197], [117890734, 117890899], [117892022, 117892118], [117894629, 117894795], [117896339, 117896515], [117900062, 117900227], [117923166, 117923451]]

Promoter

Chrom	Start	End	Description
chr6	117923520	117923529	CAGE_peak_8_at_GOPC_5end
chr6	117923595	117923604	CAGE_peak_3_at_GOPC_5end
chr6	117923610	117923691	CAGE_peak_1_at_GOPC_5end
chr6	117923699	117923710	CAGE_peak_2_at_GOPC_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	GH06I117919	117919478	117920651	1	[{'connected_gene': 'GOPC', 'score': 14.13}, {'connected_gene': 'SLC35F1', 'score': 0.39}, {'connected_gene': 'RPL29P4', 'score': 0.18}]
chr6	GH06I117072	117072818	117072967	0.49	[{'connected_gene': 'KPNA5', 'score': 20.48}, {'connected_gene': 'GOPC', 'score': 10.77}, {'connected_gene': 'RNA5SP214', 'score': 0.39}, {'connected_gene': 'GC06M117235', 'score': 0.1}]
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	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	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	GH06I117300	117300118	117301317	0.43	[{'connected_gene': 'RN7SKP18', 'score': 550.77}, {'connected_gene': 'RN7SKP51', 'score': 550.77}, {'connected_gene': 'GOPC', 'score': 16.85}, {'connected_gene': 'KPNA5', 'score': 12.96}, {'connected_gene': 'VGLL2', 'score': 11.16}, {'connected_gene': 'DCBLD1', 'score': 4.65}, {'connected_gene': 'ROS1', 'score': 0.13}]