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
ENST00000354724	[[80676244, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679529], [80679809, 80680098]]	[[80677422, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679529], [80679809, 80679898]]
ENST00000337919	[[80676247, 80678006], [80678885, 80678967], [80679231, 80679327], [80679453, 80679529], [80679809, 80680092]]	[[80677422, 80678006], [80678885, 80678967], [80679231, 80679327], [80679453, 80679529], [80679809, 80679898]]
ENST00000435063	[[80676728, 80678006], [80678601, 80678728]]	None
ENST00000523976	[[80676954, 80678006], [80678437, 80678710]]	[[80677422, 80678006], [80678437, 80678498]]
ENST00000518733	[[80677665, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679707]]	[[80677665, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679504]]
ENST00000521111	[[80679001, 80679327], [80679453, 80679529], [80679809, 80680019]]	None
ENST00000519075	[[80679168, 80679327], [80679453, 80679995]]	None
ENST00000523531	[[80679244, 80679529], [80679809, 80680092]]	None
NM_001282851	[[80676244, 80678006], [80678437, 80678710]]	[[80677422, 80678006], [80678437, 80678498]]
NM_001040708	[[80676244, 80678006], [80678885, 80678967], [80679231, 80679327], [80679453, 80679529], [80679809, 80680098]]	[[80677422, 80678006], [80678885, 80678967], [80679231, 80679327], [80679453, 80679529], [80679809, 80679898]]
NM_012258	[[80676244, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679529], [80679809, 80680098]]	[[80677422, 80678006], [80678885, 80678967], [80679243, 80679327], [80679453, 80679529], [80679809, 80679898]]

Promoter

Chrom	Start	End	Description
chr8	80679993	80680011	CAGE_peak_1_at_HEY1_5end
chr8	80680024	80680046	CAGE_peak_2_at_HEY1_5end
chr8	80680061	80680075	CAGE_peak_4_at_HEY1_5end
chr8	80680078	80680101	CAGE_peak_3_at_HEY1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I079692	79692351	79693731	0.66	[{'connected_gene': 'TPD52', 'score': 14.37}, {'connected_gene': 'MRPS28', 'score': 10.99}, {'connected_gene': 'RNU7-85P', 'score': 10.4}, {'connected_gene': 'LOC105375916', 'score': 0.23}, {'connected_gene': 'HEY1', 'score': 0.19}]
chr8	GH08I079760	79760490	79761559	0.97	[{'connected_gene': 'MRPS28', 'score': 10.67}, {'connected_gene': 'HEY1', 'score': 0.44}, {'connected_gene': 'LOC105375916', 'score': 0.13}]
chr8	GH08I079684	79684706	79684875	0.74	[{'connected_gene': 'MRPS28', 'score': 11.56}, {'connected_gene': 'RNU7-85P', 'score': 10.44}, {'connected_gene': 'TPD52', 'score': 10.17}, {'connected_gene': 'LOC105375916', 'score': 0.25}, {'connected_gene': 'HEY1', 'score': 0.18}]
chr8	GH08I079720	79720546	79720655	0.52	[{'connected_gene': 'MRPS28', 'score': 10.55}, {'connected_gene': 'RNU7-85P', 'score': 10.39}, {'connected_gene': 'HEY1', 'score': 0.25}, {'connected_gene': 'LOC105375916', 'score': 0.18}]
chr8	GH08I079747	79747168	79747378	0.27	[{'connected_gene': 'HEY1', 'score': 11.49}, {'connected_gene': 'MRPS28', 'score': 10.19}, {'connected_gene': 'RNU7-85P', 'score': 10.07}, {'connected_gene': 'LOC105375916', 'score': 0.14}]
chr8	GH08I080017	80017401	80017600	0.76	[{'connected_gene': 'HEY1', 'score': 10.89}, {'connected_gene': 'MRPS28', 'score': 0.39}, {'connected_gene': 'ENSG00000276418', 'score': 0.21}, {'connected_gene': 'ENSG00000272518', 'score': 0.21}]
chr8	GH08I079766	79766464	79770389	2.27	[{'connected_gene': 'HEY1', 'score': 553.58}, {'connected_gene': 'LINC01607', 'score': 550.77}, {'connected_gene': 'MRPS28', 'score': 15.91}, {'connected_gene': 'RNU7-85P', 'score': 11.07}, {'connected_gene': 'LOC101927040', 'score': 5.3}, {'connected_gene': 'GC08M079801', 'score': 0.29}]
chr8	GH08I079789	79789023	79789248	0.34	[{'connected_gene': 'HEY1', 'score': 2.04}, {'connected_gene': 'GC08M079801', 'score': 0.39}, {'connected_gene': 'LINC01607', 'score': 0.34}, {'connected_gene': 'LOC101927040', 'score': 0.18}]
chr8	GH08I079788	79788364	79788511	0.58	[{'connected_gene': 'HEY1', 'score': 2.03}, {'connected_gene': 'GC08M079801', 'score': 0.39}, {'connected_gene': 'LINC01607', 'score': 0.34}, {'connected_gene': 'LOC101927040', 'score': 0.18}]
chr8	GH08I079780	79780186	79780354	0.35	[{'connected_gene': 'HEY1', 'score': 1.82}, {'connected_gene': 'LINC01607', 'score': 0.39}, {'connected_gene': 'GC08M079801', 'score': 0.37}, {'connected_gene': 'LOC101927040', 'score': 0.16}]
chr8	GH08I079818	79818986	79820867	0.82	[{'connected_gene': 'HEY1', 'score': 10.66}, {'connected_gene': 'LINC01607', 'score': 5.95}, {'connected_gene': 'RNU7-85P', 'score': 0.37}, {'connected_gene': 'LOC101927040', 'score': 0.23}]
chr8	GH08I079826	79826153	79831235	1.07	[{'connected_gene': 'HEY1', 'score': 19.58}, {'connected_gene': 'LOC101927040', 'score': 16.2}, {'connected_gene': 'RNU7-85P', 'score': 12.76}, {'connected_gene': 'LINC01607', 'score': 6.88}, {'connected_gene': 'ENSG00000272264', 'score': 4.7}, {'connected_gene': 'ENSG00000251867', 'score': 4.25}]
chr8	GH08I079857	79857363	79858412	0.56	[{'connected_gene': 'HEY1', 'score': 4.39}, {'connected_gene': 'LOC101927040', 'score': 0.39}, {'connected_gene': 'RNU7-85P', 'score': 0.22}]
chr8	GH08I079665	79665800	79669137	0.52	[{'connected_gene': 'LOC105375916', 'score': 0.31}, {'connected_gene': 'STMN2', 'score': 0.22}, {'connected_gene': 'HEY1', 'score': 0.15}]
chr8	GH08I079764	79764826	79766321	1.5	[{'connected_gene': 'LOC101927040', 'score': 4.55}, {'connected_gene': 'HEY1', 'score': 0.77}, {'connected_gene': 'LOC105375916', 'score': 0.13}]
chr8	GH08I079783	79783066	79785990	1.66	[{'connected_gene': 'LOC101927040', 'score': 14.25}, {'connected_gene': 'HEY1', 'score': 2.34}, {'connected_gene': 'LINC01607', 'score': 0.37}, {'connected_gene': 'GC08M079801', 'score': 0.37}]
chr8	GH08I079792	79792894	79795863	1.49	[{'connected_gene': 'LOC101927040', 'score': 7.89}, {'connected_gene': 'LINC01607', 'score': 7.29}, {'connected_gene': 'HEY1', 'score': 1.94}, {'connected_gene': 'GC08M079801', 'score': 0.44}]
chr8	GH08I079831	79831473	79834300	0.76	[{'connected_gene': 'LOC101927040', 'score': 12.61}, {'connected_gene': 'RNU7-85P', 'score': 11.94}, {'connected_gene': 'HEY1', 'score': 11.01}, {'connected_gene': 'LINC01607', 'score': 5.44}]
chr8	GH08I079852	79852353	79854731	1.1	[{'connected_gene': 'LOC101927040', 'score': 12.78}, {'connected_gene': 'RNU7-85P', 'score': 10.73}, {'connected_gene': 'HEY1', 'score': 10.73}, {'connected_gene': 'LINC01607', 'score': 6.32}]
chr8	GH08I079694	79694946	79694975	0.2	[{'connected_gene': 'RNU7-85P', 'score': 10.4}, {'connected_gene': 'MRPS28', 'score': 10.23}, {'connected_gene': 'TPD52', 'score': 9.78}, {'connected_gene': 'LOC105375916', 'score': 0.22}, {'connected_gene': 'HEY1', 'score': 0.19}]
chr8	GH08I079923	79923225	79924984	0.89	[{'connected_gene': 'RNU7-85P', 'score': 10.81}, {'connected_gene': 'HEY1', 'score': 10.37}, {'connected_gene': 'GC08P079918', 'score': 0.44}, {'connected_gene': 'ENSG00000272518', 'score': 0.29}, {'connected_gene': 'MRPS28', 'score': 0.14}, {'connected_gene': 'ENSG00000276418', 'score': 0.1}]
chr8	GH08I079821	79821420	79822821	0.49	[{'connected_gene': 'RNU7-85P', 'score': 12.79}, {'connected_gene': 'HEY1', 'score': 10.66}, {'connected_gene': 'LINC01607', 'score': 6.53}, {'connected_gene': 'LOC101927040', 'score': 0.25}]
chr8	GH08I079729	79729975	79730230	0.22	[{'connected_gene': 'RNU7-85P', 'score': 10.0}, {'connected_gene': 'STMN2', 'score': 1.82}, {'connected_gene': 'HEY1', 'score': 0.28}, {'connected_gene': 'LOC105375916', 'score': 0.16}]