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
ENST00000514738	[[31193856, 31193993], [31267452, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318453]]	[[31267745, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318141]]
ENST00000265071	[[31193856, 31193993], [31267452, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318031], [31322924, 31329253]]	[[31267580, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318031], [31322924, 31323415]]
ENST00000506396	[[31193875, 31193993], [31249320, 31251961]]	None
ENST00000508132	[[31294305, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302549]]	None
ENST00000504835	[[31316356, 31316436], [31317481, 31317599], [31317779, 31319149]]	None
NM_004932	[[31193761, 31193993], [31267452, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318031], [31322924, 31329253]]	[[31267580, 31267808], [31294068, 31294363], [31297395, 31297515], [31299570, 31299738], [31302217, 31302405], [31305280, 31305534], [31313424, 31313561], [31316314, 31316436], [31317481, 31317599], [31317779, 31318031], [31322924, 31323415]]

Promoter

Chrom	Start	End	Description
chr5	31193785	31193810	CAGE_peak_2_at_CDH6_5end
chr5	31193820	31193841	CAGE_peak_3_at_CDH6_5end
chr5	31193847	31193887	CAGE_peak_1_at_CDH6_5end
chr5	31193890	31193901	CAGE_peak_4_at_CDH6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I031730	31730232	31732854	0.43	[{'connected_gene': 'DROSHA', 'score': 14.56}, {'connected_gene': 'MTMR12', 'score': 11.6}, {'connected_gene': 'PDZD2', 'score': 10.99}, {'connected_gene': 'CDH6', 'score': 4.88}, {'connected_gene': 'ENSG00000248878', 'score': 0.44}, {'connected_gene': 'ENSG00000249114', 'score': 0.44}]
chr5	GH05I031213	31213230	31214882	0.31	[{'connected_gene': 'LOC105374709', 'score': 550.77}, {'connected_gene': 'CDH6', 'score': 11.62}, {'connected_gene': 'ENSG00000254138', 'score': 10.9}, {'connected_gene': 'GC05M031229', 'score': 0.37}]
chr5	GH05I031218	31218534	31219704	0.49	[{'connected_gene': 'CDH6', 'score': 10.99}, {'connected_gene': 'ENSG00000254138', 'score': 10.86}, {'connected_gene': 'LOC105374709', 'score': 0.44}, {'connected_gene': 'GC05M031229', 'score': 0.39}]
chr5	GH05I031193	31193001	31196437	1.83	[{'connected_gene': 'CDH6', 'score': 550.77}, {'connected_gene': 'ENSG00000254138', 'score': 11.02}, {'connected_gene': 'GC05M031204', 'score': 0.39}]
chr5	GH05I031105	31105925	31108310	0.38	[{'connected_gene': 'CDH6', 'score': 11.05}, {'connected_gene': 'ENSG00000253940', 'score': 0.26}, {'connected_gene': 'ENSG00000254138', 'score': 0.1}]
chr5	GH05I031274	31274002	31274599	0.38	[{'connected_gene': 'CDH6', 'score': 7.09}, {'connected_gene': 'ENSG00000254138', 'score': 0.44}, {'connected_gene': 'GC05P031506', 'score': 0.07}]
chr5	GH05I031122	31122822	31124354	0.31	[{'connected_gene': 'CDH6', 'score': 26.2}, {'connected_gene': 'ENSG00000253940', 'score': 0.22}, {'connected_gene': 'ENSG00000254138', 'score': 0.11}]
chr5	GH05I031112	31112793	31113600	0.2	[{'connected_gene': 'CDH6', 'score': 17.41}, {'connected_gene': 'ENSG00000254138', 'score': 9.52}, {'connected_gene': 'ENSG00000253940', 'score': 0.25}]
chr5	GH05I031161	31161445	31163052	0.43	[{'connected_gene': 'CDH6', 'score': 0.29}, {'connected_gene': 'ENSG00000253940', 'score': 0.15}, {'connected_gene': 'ENSG00000254138', 'score': 0.14}]
chr5	GH05I031224	31224166	31225989	0.38	[{'connected_gene': 'ENSG00000254138', 'score': 10.85}, {'connected_gene': 'CDH6', 'score': 10.76}, {'connected_gene': 'GC05M031229', 'score': 0.77}, {'connected_gene': 'LOC105374709', 'score': 0.39}]
chr5	GH05I031120	31120000	31121020	0.2	[{'connected_gene': 'ENSG00000253940', 'score': 0.23}, {'connected_gene': 'CDH6', 'score': 0.19}, {'connected_gene': 'ENSG00000254138', 'score': 0.11}]
chr5	GH05I031096	31096241	31097303	0.2	[{'connected_gene': 'ENSG00000253940', 'score': 0.29}, {'connected_gene': 'CDH6', 'score': 0.15}, {'connected_gene': 'ENSG00000254138', 'score': 0.09}]
chr5	GH05I031196	31196486	31197792	0.49	[{'connected_gene': 'ENSG00000254138', 'score': 11.02}, {'connected_gene': 'CDH6', 'score': 0.77}, {'connected_gene': 'GC05M031204', 'score': 0.39}]