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
ENST00000239944	[[150259780, 150262285], [150263489, 150263565], [150263838, 150264428]]	[[150262244, 150262285], [150263489, 150263565], [150263838, 150263922]]
ENST00000479209	[[150259784, 150262285], [150263489, 150263565], [150263838, 150264964], [150320730, 150320961]]	[[150262244, 150262285], [150263489, 150263565], [150263838, 150263922]]
ENST00000487153	[[150262078, 150262285], [150263838, 150264288]]	[[150262201, 150262285], [150263838, 150263922]]
ENST00000491660	[[150263183, 150263565], [150263838, 150264286]]	[[150263412, 150263565], [150263838, 150263922]]
ENST00000491195	[[150264576, 150264859], [150284687, 150284893], [150320730, 150320957]]	None
ENST00000490945	[[150283582, 150284893], [150320730, 150321015]]	None
ENST00000463647	[[150284171, 150284893], [150300903, 150300942]]	None
ENST00000484608	[[150284585, 150284893], [150303180, 150303279], [150320730, 150320955]]	None
NM_014445	[[150259779, 150262285], [150263489, 150263565], [150263838, 150264428]]	[[150262244, 150262285], [150263489, 150263565], [150263838, 150263922]]

Promoter

Chrom	Start	End	Description
chr3	150264121	150264134	CAGE_peak_5_at_SERP1_5end
chr3	150264153	150264168	CAGE_peak_7_at_SERP1_5end
chr3	150264169	150264180	CAGE_peak_8_at_SERP1_5end
chr3	150264197	150264211	CAGE_peak_6_at_SERP1_5end
chr3	150264219	150264242	CAGE_peak_2_at_SERP1_5end
chr3	150264246	150264268	CAGE_peak_3_at_SERP1_5end
chr3	150264272	150264329	CAGE_peak_1_at_SERP1_5end
chr3	150264734	150264749	CAGE_peak_10_at_SERP1_5end
chr3	150320937	150320980	CAGE_peak_4_at_SERP1_5end
chr3	150320996	150321008	CAGE_peak_9_at_SERP1_5end
chr3	150321116	150321121	CAGE_peak_19_at_SERP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I150384	150384193	150386094	1.63	[{'connected_gene': 'TSC22D2', 'score': 26.91}, {'connected_gene': 'SERP1', 'score': 4.56}, {'connected_gene': 'SIAH2', 'score': 1.33}, {'connected_gene': 'LINC01214', 'score': 0.21}]
chr3	GH03I150273	150273417	150273791	0.25	[{'connected_gene': 'TSC22D2', 'score': 6.07}, {'connected_gene': 'RNF13', 'score': 2.9}, {'connected_gene': 'SERP1', 'score': 2.15}, {'connected_gene': 'LOC105374154', 'score': 0.77}, {'connected_gene': 'ENSG00000278234', 'score': 0.29}, {'connected_gene': 'LINC01214', 'score': 0.23}]
chr3	GH03I150582	150582264	150584661	0.57	[{'connected_gene': 'EIF2A', 'score': 52.0}, {'connected_gene': 'SELENOT', 'score': 4.53}, {'connected_gene': 'SERP1', 'score': 0.37}]
chr3	GH03I150543	150543913	150548628	2.28	[{'connected_gene': 'EIF2A', 'score': 596.96}, {'connected_gene': 'SERP1', 'score': 557.42}, {'connected_gene': 'COMMD2', 'score': 9.68}, {'connected_gene': 'SELENOT', 'score': 5.09}, {'connected_gene': 'GC03M150475', 'score': 0.19}]
chr3	GH03I150607	150607388	150608135	0.67	[{'connected_gene': 'EIF2A', 'score': 28.47}, {'connected_gene': 'ERICH6', 'score': 10.69}, {'connected_gene': 'ERICH6-AS1', 'score': 10.69}, {'connected_gene': 'SELENOT', 'score': 6.02}, {'connected_gene': 'SERP1', 'score': 0.77}, {'connected_gene': 'GC03M150612', 'score': 0.77}]
chr3	GH03I150759	150759014	150766484	2.55	[{'connected_gene': 'SIAH2', 'score': 559.15}, {'connected_gene': 'SIAH2-AS1', 'score': 550.77}, {'connected_gene': 'TSC22D2', 'score': 4.3}, {'connected_gene': 'SERP1', 'score': 1.86}, {'connected_gene': 'GPR171', 'score': 1.54}, {'connected_gene': 'SELENOT', 'score': 1.2}, {'connected_gene': 'LOC105374155', 'score': 0.77}]
chr3	GH03I150598	150598167	150607003	2.51	[{'connected_gene': 'SELENOT', 'score': 556.03}, {'connected_gene': 'SERP1', 'score': 550.77}, {'connected_gene': 'EIF2A', 'score': 52.33}, {'connected_gene': 'COMMD2', 'score': 11.96}, {'connected_gene': 'TSC22D2', 'score': 11.26}, {'connected_gene': 'ERICH6', 'score': 10.68}, {'connected_gene': 'ERICH6-AS1', 'score': 10.68}]
chr3	GH03I150634	150634938	150637027	0.74	[{'connected_gene': 'SERP1', 'score': 11.67}, {'connected_gene': 'SELENOT', 'score': 11.67}, {'connected_gene': 'ERICH6', 'score': 11.34}, {'connected_gene': 'ERICH6-AS1', 'score': 11.34}, {'connected_gene': 'EIF2A', 'score': 10.77}, {'connected_gene': 'GC03P150627', 'score': 0.44}]
chr3	GH03I150631	150631199	150631219	0.23	[{'connected_gene': 'SERP1', 'score': 12.01}, {'connected_gene': 'SELENOT', 'score': 12.01}, {'connected_gene': 'ERICH6', 'score': 11.4}, {'connected_gene': 'ERICH6-AS1', 'score': 11.4}, {'connected_gene': 'CLRN1', 'score': 4.36}, {'connected_gene': 'GC03P150627', 'score': 0.77}]
chr3	GH03I150662	150662601	150662800	0.52	[{'connected_gene': 'ERICH6', 'score': 11.97}, {'connected_gene': 'ERICH6-AS1', 'score': 11.97}, {'connected_gene': 'SERP1', 'score': 11.33}, {'connected_gene': 'SELENOT', 'score': 11.33}, {'connected_gene': 'ENSG00000243273', 'score': 10.12}, {'connected_gene': 'MINDY4B', 'score': 10.12}, {'connected_gene': 'GC03P150627', 'score': 0.28}]
chr3	GH03I150733	150733201	150745626	1.74	[{'connected_gene': 'LOC101928105', 'score': 550.77}, {'connected_gene': 'SIAH2', 'score': 13.96}, {'connected_gene': 'SIAH2-AS1', 'score': 12.02}, {'connected_gene': 'ERICH6', 'score': 11.35}, {'connected_gene': 'ERICH6-AS1', 'score': 11.33}, {'connected_gene': 'TSC22D2', 'score': 6.6}, {'connected_gene': 'SERP1', 'score': 4.38}, {'connected_gene': 'CLRN1', 'score': 3.01}, {'connected_gene': 'PIR41342', 'score': 0.77}]
chr3	GH03I150723	150723349	150724607	0.52	[{'connected_gene': 'ERICH6-AS1', 'score': 21.72}, {'connected_gene': 'SIAH2', 'score': 11.9}, {'connected_gene': 'SIAH2-AS1', 'score': 11.9}, {'connected_gene': 'ENSG00000243273', 'score': 10.82}, {'connected_gene': 'MINDY4B', 'score': 10.8}, {'connected_gene': 'SELENOT', 'score': 10.72}, {'connected_gene': 'SERP1', 'score': 10.72}, {'connected_gene': 'SNRPCP3', 'score': 0.77}, {'connected_gene': 'LOC101928105', 'score': 0.37}]