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
ENST00000429258	[[12237963, 12238022], [12238128, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272977]]	[[12238244, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272977]]
ENST00000281141	[[12237964, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292587]]	[[12238244, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292336]]
ENST00000455773	[[12238128, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12291579, 12291705]]	None
ENST00000467016	[[12238194, 12238318], [12240703, 12240875]]	None
ENST00000378900	[[12238221, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292358]]	[[12238244, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292336]]
ENST00000442050	[[12238230, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279223]]	[[12238244, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279223]]
ENST00000498747	[[12259412, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12279460, 12279533], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292528]]	None
ENST00000440613	[[12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12292309, 12292588]]	[[12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12292309, 12292336]]
ENST00000497963	[[12288052, 12288276], [12291579, 12292318]]	None
NM_006023	[[12237960, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292589]]	[[12238244, 12238318], [12240703, 12240775], [12251965, 12252023], [12252288, 12252321], [12257738, 12257834], [12259359, 12259466], [12272946, 12272995], [12277046, 12277122], [12279142, 12279265], [12280455, 12280484], [12288147, 12288276], [12291579, 12291717], [12292309, 12292336]]

Promoter

Chrom	Start	End	Description
chr10	12237908	12237921	CAGE_peak_3_at_CDC123_5end
chr10	12237924	12237982	CAGE_peak_2_at_CDC123_5end
chr10	12238171	12238241	CAGE_peak_1_at_CDC123_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I012219	12219470	12222784	1.01	[{'connected_gene': 'CAMK1D', 'score': 22.91}, {'connected_gene': 'NUDT5', 'score': 0.34}, {'connected_gene': 'CDC123', 'score': 0.31}, {'connected_gene': 'ENSG00000228302', 'score': 0.31}]
chr10	GH10I012240	12240676	12245867	1.41	[{'connected_gene': 'CAMK1D', 'score': 32.09}, {'connected_gene': 'MIR548Q', 'score': 10.25}, {'connected_gene': 'NUDT5', 'score': 9.25}, {'connected_gene': 'UPF2', 'score': 4.14}, {'connected_gene': 'SEC61A2', 'score': 2.02}, {'connected_gene': 'ENSG00000228302', 'score': 0.77}, {'connected_gene': 'CDC123', 'score': 0.25}]
chr10	GH10I012179	12179689	12182468	0.69	[{'connected_gene': 'SEC61A2', 'score': 21.23}, {'connected_gene': 'DHTKD1', 'score': 10.9}, {'connected_gene': 'NUDT5', 'score': 9.58}, {'connected_gene': 'PIR56929', 'score': 0.44}, {'connected_gene': 'CDC123', 'score': 0.39}]
chr10	GH10I012190	12190696	12192417	0.6	[{'connected_gene': 'SEC61A2', 'score': 11.07}, {'connected_gene': 'DHTKD1', 'score': 11.04}, {'connected_gene': 'NUDT5', 'score': 9.72}, {'connected_gene': 'CDC123', 'score': 0.77}, {'connected_gene': 'PIR56929', 'score': 0.37}]
chr10	GH10I012194	12193382	12193571	0.79	[{'connected_gene': 'SEC61A2', 'score': 11.07}, {'connected_gene': 'DHTKD1', 'score': 11.04}, {'connected_gene': 'NUDT5', 'score': 9.7}, {'connected_gene': 'CDC123', 'score': 0.77}, {'connected_gene': 'PIR56929', 'score': 0.37}]
chr10	GH10I012193	12193863	12197601	2.1	[{'connected_gene': 'NUDT5', 'score': 557.4}, {'connected_gene': 'CDC123', 'score': 550.77}, {'connected_gene': 'UPF2', 'score': 10.77}, {'connected_gene': 'SEC61A2', 'score': 4.88}, {'connected_gene': 'CAMK1D', 'score': 4.64}, {'connected_gene': 'PIR56929', 'score': 0.34}]
chr10	GH10I012201	12201702	12201851	0.46	[{'connected_gene': 'NUDT5', 'score': 6.82}, {'connected_gene': 'CDC123', 'score': 0.44}, {'connected_gene': 'ENSG00000228302', 'score': 0.25}]
chr10	GH10I012214	12214104	12215610	0.89	[{'connected_gene': 'MIR548Q', 'score': 9.81}, {'connected_gene': 'CAMK1D', 'score': 7.25}, {'connected_gene': 'NUDT5', 'score': 0.37}, {'connected_gene': 'CDC123', 'score': 0.37}, {'connected_gene': 'ENSG00000228302', 'score': 0.29}]