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
ENST00000400520	[[20301924, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306854, 20306932]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]
ENST00000469162	[[20301927, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305404], [20306072, 20306100]]	None
ENST00000496748	[[20301930, 20302336], [20304507, 20305372], [20306072, 20306107]]	None
ENST00000375111	[[20301930, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306072, 20306183], [20306854, 20306909]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]
ENST00000491964	[[20301957, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306072, 20306152], [20306854, 20306900]]	None
ENST00000482011	[[20302165, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306072, 20306183], [20306854, 20306909]]	None
ENST00000461140	[[20304738, 20304977], [20305226, 20305560]]	None
NM_001161729	[[20301923, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305404], [20306072, 20306152]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]
NM_000300	[[20301923, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306072, 20306183], [20306854, 20306932]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]
NM_001161727	[[20301923, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306072, 20306152], [20306854, 20306932]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]
NM_001161728	[[20301923, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305372], [20306854, 20306932]]	[[20302193, 20302336], [20304507, 20304614], [20304872, 20305017], [20305226, 20305266]]

Promoter

Chrom	Start	End	Description
chr1	20305256	20305268	CAGE_peak_5_at_PLA2G2A_5end
chr1	20305296	20305314	CAGE_peak_3_at_PLA2G2A_5end
chr1	20305327	20305341	CAGE_peak_2_at_PLA2G2A_5end
chr1	20305376	20305386	CAGE_peak_6_at_PLA2G2A_5end
chr1	20306102	20306119	CAGE_peak_1_at_PLA2G2A_5end
chr1	20306920	20306936	CAGE_peak_4_at_PLA2G2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I019967	19967968	19968137	0.2	[{'connected_gene': 'CAMK2N1', 'score': 9.43}, {'connected_gene': 'PLA2G2A', 'score': 7.9}, {'connected_gene': 'RN7SL304P', 'score': 0.77}, {'connected_gene': 'PLA2G2E', 'score': 0.26}]
chr1	GH01I020032	20032358	20032733	0.26	[{'connected_gene': 'PLA2G5', 'score': 9.27}, {'connected_gene': 'PLA2G2A', 'score': 2.33}, {'connected_gene': 'LOC100419911', 'score': 0.44}]
chr1	GH01I019978	19978208	19982778	1.35	[{'connected_gene': 'PLA2G2A', 'score': 559.92}, {'connected_gene': 'PIR59989', 'score': 550.77}, {'connected_gene': 'PLA2G5', 'score': 5.91}]
chr1	GH01I020454	20454334	20454477	0.53	[{'connected_gene': 'HP1BP3', 'score': 14.03}, {'connected_gene': 'OTUD3', 'score': 11.48}, {'connected_gene': 'PLA2G2A', 'score': 6.94}, {'connected_gene': 'ENSG00000284641', 'score': 0.34}, {'connected_gene': 'LINC01141', 'score': 0.34}]
chr1	GH01I019764	19764505	19766790	1.3	[{'connected_gene': 'TMCO4', 'score': 20.52}, {'connected_gene': 'AKR7A3', 'score': 11.34}, {'connected_gene': 'RNF186', 'score': 10.86}, {'connected_gene': 'ENSG00000235434', 'score': 10.86}, {'connected_gene': 'PLA2G2A', 'score': 1.33}, {'connected_gene': 'GC01P019759', 'score': 0.44}]
chr1	GH01I019974	19974350	19976174	1.12	[{'connected_gene': 'OTUD3', 'score': 11.56}, {'connected_gene': 'PLA2G2E', 'score': 11.36}, {'connected_gene': 'EMC1', 'score': 9.99}, {'connected_gene': 'PLA2G2A', 'score': 7.21}, {'connected_gene': 'NBL1', 'score': 5.67}, {'connected_gene': 'RN7SL304P', 'score': 0.77}]
chr1	GH01I020179	20179465	20179589	0.57	[{'connected_gene': 'EMC1', 'score': 11.75}, {'connected_gene': 'OTUD3', 'score': 11.28}, {'connected_gene': 'HP1BP3', 'score': 10.41}, {'connected_gene': 'UBXN10', 'score': 1.94}, {'connected_gene': 'RNF186', 'score': 1.55}, {'connected_gene': 'PLA2G2A', 'score': 1.32}, {'connected_gene': 'PLA2G2C', 'score': 0.77}]