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
ENST00000370489	[[101419262, 101419345], [101419618, 101419721], [101421202, 101421385], [101439017, 101439223], [101439481, 101439632], [101445548, 101445652], [101448450, 101448507], [101451141, 101451275], [101455712, 101455879], [101458290, 101458615], [101460729, 101460815], [101462268, 101462430], [101464208, 101465997]]	[[101419713, 101419721], [101421202, 101421385], [101439017, 101439223], [101439481, 101439632], [101445548, 101445652], [101448450, 101448507], [101451141, 101451275], [101455712, 101455879], [101458290, 101458615], [101460729, 101460815], [101462268, 101462430], [101464208, 101464440]]
ENST00000472998	[[101458422, 101458615], [101460623, 101460815], [101462268, 101462431]]	[[101458422, 101458615], [101460623, 101460641]]
NM_020354	[[101419262, 101419345], [101419618, 101419721], [101421202, 101421385], [101439017, 101439223], [101439481, 101439632], [101445548, 101445652], [101448450, 101448507], [101451141, 101451275], [101455712, 101455879], [101458290, 101458615], [101460729, 101460815], [101462268, 101462430], [101464208, 101471002]]	[[101419713, 101419721], [101421202, 101421385], [101439017, 101439223], [101439481, 101439632], [101445548, 101445652], [101448450, 101448507], [101451141, 101451275], [101455712, 101455879], [101458290, 101458615], [101460729, 101460815], [101462268, 101462430], [101464208, 101464440]]

Promoter

Chrom	Start	End	Description
chr10	101419187	101419313	CAGE_peak_1_at_ENTPD7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I099658	99658200	99663967	2.22	[{'connected_gene': 'SLC25A28', 'score': 562.19}, {'connected_gene': 'ENTPD7', 'score': 560.67}, {'connected_gene': 'PIR56896', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 13.17}, {'connected_gene': 'CUTC', 'score': 11.6}, {'connected_gene': 'CHUK', 'score': 10.8}, {'connected_gene': 'EBAG9P1', 'score': 10.65}, {'connected_gene': 'ABCC2', 'score': 7.54}]
chr10	GH10I099617	99617150	99622718	2.3	[{'connected_gene': 'SLC25A28', 'score': 561.69}, {'connected_gene': 'ENSG00000260475', 'score': 550.77}, {'connected_gene': 'CWF19L1', 'score': 31.28}, {'connected_gene': 'PHBP9', 'score': 29.58}, {'connected_gene': 'CHUK', 'score': 28.3}, {'connected_gene': 'DNMBP', 'score': 19.93}, {'connected_gene': 'EBAG9P1', 'score': 15.07}, {'connected_gene': 'ENSG00000236308', 'score': 11.97}, {'connected_gene': 'NKX2-3', 'score': 11.24}, {'connected_gene': 'CUTC', 'score': 10.21}, {'connected_gene': 'ENTPD7', 'score': 9.45}, {'connected_gene': 'ABCC2', 'score': 8.4}, {'connected_gene': 'PIR55652', 'score': 0.44}, {'connected_gene': 'GC10M099612', 'score': 0.44}]
chr10	GH10I099654	99654061	99657820	1.04	[{'connected_gene': 'ENTPD7', 'score': 10.67}, {'connected_gene': 'ENSG00000260475', 'score': 6.03}, {'connected_gene': 'ENSG00000229278', 'score': 0.77}, {'connected_gene': 'SLC25A28', 'score': 0.77}]
chr10	GH10I099692	99692929	99696343	0.63	[{'connected_gene': 'ENTPD7', 'score': 10.18}, {'connected_gene': 'ABCC2', 'score': 7.88}, {'connected_gene': 'EBAG9P1', 'score': 0.77}, {'connected_gene': 'PIR56896', 'score': 0.29}, {'connected_gene': 'COX15', 'score': 0.28}]
chr10	GH10I099673	99673001	99673479	1.08	[{'connected_gene': 'ENTPD7', 'score': 0.39}, {'connected_gene': 'PIR56896', 'score': 0.39}, {'connected_gene': 'EBAG9P1', 'score': 0.34}]
chr10	GH10I099689	99689312	99690388	0.51	[{'connected_gene': 'ENTPD7', 'score': 10.2}, {'connected_gene': 'EBAG9P1', 'score': 0.44}, {'connected_gene': 'PIR56896', 'score': 0.31}]
chr10	GH10I099676	99676584	99676793	0.58	[{'connected_gene': 'ENTPD7', 'score': 0.37}, {'connected_gene': 'PIR56896', 'score': 0.37}, {'connected_gene': 'EBAG9P1', 'score': 0.34}]
chr10	GH10I099700	99700040	99701337	0.4	[{'connected_gene': 'CUTC', 'score': 550.77}, {'connected_gene': 'PIR46433', 'score': 550.77}, {'connected_gene': 'ENTPD7', 'score': 19.48}, {'connected_gene': 'EBAG9P1', 'score': 0.77}, {'connected_gene': 'COX15', 'score': 0.29}]
chr10	GH10I099730	99730245	99734072	2.06	[{'connected_gene': 'CUTC', 'score': 558.93}, {'connected_gene': 'COX15', 'score': 550.77}, {'connected_gene': 'EBAG9P1', 'score': 19.16}, {'connected_gene': 'SEC31B', 'score': 12.71}, {'connected_gene': 'ENTPD7', 'score': 8.22}, {'connected_gene': 'PIR39206', 'score': 0.44}]
chr10	GH10I099993	99993202	99997959	1.62	[{'connected_gene': 'DNMBP', 'score': 31.58}, {'connected_gene': 'BLOC1S2', 'score': 10.11}, {'connected_gene': 'CHUK', 'score': 2.71}, {'connected_gene': 'CWF19L1', 'score': 2.18}, {'connected_gene': 'ENTPD7', 'score': 1.78}, {'connected_gene': 'ERLIN1', 'score': 1.15}, {'connected_gene': 'DNMBP-AS1', 'score': 0.2}]
chr10	GH10I099615	99615782	99616348	0.2	[{'connected_gene': 'ABCC2', 'score': 8.4}, {'connected_gene': 'ENTPD7', 'score': 8.38}, {'connected_gene': 'ENSG00000260475', 'score': 5.89}, {'connected_gene': 'PIR55652', 'score': 0.77}, {'connected_gene': 'GC10M099612', 'score': 0.77}, {'connected_gene': 'SLC25A28', 'score': 0.26}]
chr10	GH10I099681	99681664	99681813	0.79	[{'connected_gene': 'EBAG9P1', 'score': 0.37}, {'connected_gene': 'ENTPD7', 'score': 0.34}, {'connected_gene': 'PIR56896', 'score': 0.34}]
chr10	GH10I099665	99665704	99668606	1.02	[{'connected_gene': 'EBAG9P1', 'score': 18.84}, {'connected_gene': 'CUTC', 'score': 11.93}, {'connected_gene': 'ENTPD7', 'score': 10.34}, {'connected_gene': 'CWF19L1', 'score': 4.25}, {'connected_gene': 'PIR56896', 'score': 0.44}]
chr10	GH10I099684	99684670	99686538	1.05	[{'connected_gene': 'EBAG9P1', 'score': 11.31}, {'connected_gene': 'ABCC2', 'score': 6.67}, {'connected_gene': 'PIR56896', 'score': 0.34}, {'connected_gene': 'ENTPD7', 'score': 0.31}]
chr10	GH10I099630	99630401	99631200	0.83	[{'connected_gene': 'ENSG00000229278', 'score': 12.55}, {'connected_gene': 'ENTPD7', 'score': 12.52}, {'connected_gene': 'CUTC', 'score': 11.42}, {'connected_gene': 'EBAG9P1', 'score': 5.35}, {'connected_gene': 'LOC105378450', 'score': 0.44}, {'connected_gene': 'GC10M099623', 'score': 0.39}, {'connected_gene': 'SLC25A28', 'score': 0.31}]
chr10	GH10I099707	99707704	99710664	0.97	[{'connected_gene': 'PIR43293', 'score': 550.77}, {'connected_gene': 'PIR46681', 'score': 550.77}, {'connected_gene': 'ENTPD7', 'score': 10.15}, {'connected_gene': 'LOC101927300', 'score': 10.02}, {'connected_gene': 'GOT1', 'score': 10.02}, {'connected_gene': 'NKX2-3', 'score': 10.02}, {'connected_gene': 'BLOC1S2', 'score': 5.2}, {'connected_gene': 'GC10M099706', 'score': 0.77}, {'connected_gene': 'PIR46433', 'score': 0.44}, {'connected_gene': 'CUTC', 'score': 0.44}, {'connected_gene': 'COX15', 'score': 0.34}]
chr10	GH10I099711	99711224	99711373	0.6	[{'connected_gene': 'PIR43293', 'score': 550.77}, {'connected_gene': 'PIR35000', 'score': 550.77}, {'connected_gene': 'PIR46681', 'score': 550.77}, {'connected_gene': 'GC10M099706', 'score': 550.77}, {'connected_gene': 'NKX2-3', 'score': 10.02}, {'connected_gene': 'CUTC', 'score': 0.44}, {'connected_gene': 'COX15', 'score': 0.34}, {'connected_gene': 'ENTPD7', 'score': 0.23}]