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
ENST00000361840	[[50486841, 50489296], [50495613, 50495716], [50502054, 50502221], [50505153, 50505270], [50510265, 50510476]]	[[50489198, 50489296], [50495613, 50495716], [50502054, 50502221], [50505153, 50505270], [50510265, 50510371]]
ENST00000378195	[[50486841, 50489296], [50495613, 50495716], [50502054, 50502221], [50510265, 50510626]]	[[50489198, 50489296], [50495613, 50495716], [50502054, 50502221], [50510265, 50510371]]
ENST00000492258	[[50505153, 50505270], [50509752, 50509889]]	None
NM_020456	[[50486837, 50489296], [50495613, 50495716], [50502054, 50502221], [50505153, 50505270], [50510265, 50510637]]	[[50489198, 50489296], [50495613, 50495716], [50502054, 50502221], [50505153, 50505270], [50510265, 50510371]]
NM_001127482	[[50486837, 50489296], [50495613, 50495716], [50502054, 50502221], [50510265, 50510637]]	[[50489198, 50489296], [50495613, 50495716], [50502054, 50502221], [50510265, 50510371]]
NR_023351	[[50486837, 50489296], [50495613, 50495716], [50510265, 50510637]]	None

Promoter

Chrom	Start	End	Description
chr13	50510404	50510427	CAGE_peak_2_at_SPRYD7_5end
chr13	50510434	50510490	CAGE_peak_1_at_SPRYD7_5end
chr13	50510579	50510591	CAGE_peak_5_at_SPRYD7_5end
chr13	50510596	50510611	CAGE_peak_3_at_SPRYD7_5end
chr13	50510622	50510649	CAGE_peak_4_at_SPRYD7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I049856	49856871	49860394	1.13	[{'connected_gene': 'EBPL', 'score': 16.26}, {'connected_gene': 'SPRYD7', 'score': 7.86}, {'connected_gene': 'DLEU1', 'score': 6.09}, {'connected_gene': 'CTAGE10P', 'score': 5.03}, {'connected_gene': 'TRIM13', 'score': 4.52}, {'connected_gene': 'RNY4P30', 'score': 0.29}, {'connected_gene': 'KPNA3', 'score': 0.2}]
chr13	GH13I049960	49960260	49960532	0.26	[{'connected_gene': 'SPRYD7', 'score': 11.8}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'KPNA3', 'score': 9.34}, {'connected_gene': 'GC13P049955', 'score': 0.44}, {'connected_gene': 'GC13P049980', 'score': 0.37}]
chr13	GH13I049934	49934830	49940676	2.25	[{'connected_gene': 'SPRYD7', 'score': 550.22}, {'connected_gene': 'TRIM13', 'score': 25.97}, {'connected_gene': 'KCNRG', 'score': 15.58}, {'connected_gene': 'SETDB2', 'score': 13.34}, {'connected_gene': 'EBPL', 'score': 9.84}, {'connected_gene': 'DLEU1', 'score': 7.65}, {'connected_gene': 'CTAGE10P', 'score': 6.9}, {'connected_gene': 'GC13P049951', 'score': 0.39}, {'connected_gene': 'GC13M049909', 'score': 0.31}, {'connected_gene': 'RNY4P9', 'score': 0.31}]
chr13	GH13I049790	49790706	49794054	2.05	[{'connected_gene': 'KPNA3', 'score': 556.01}, {'connected_gene': 'ENSG00000276436', 'score': 550.77}, {'connected_gene': 'EBPL', 'score': 26.25}, {'connected_gene': 'SPRYD7', 'score': 6.68}, {'connected_gene': 'SETDB2', 'score': 5.19}, {'connected_gene': 'DLEU1', 'score': 5.02}, {'connected_gene': 'GC13P049698', 'score': 0.16}]
chr13	GH13I049995	49995318	49999686	2.01	[{'connected_gene': 'TRIM13', 'score': 560.54}, {'connected_gene': 'SPRYD7', 'score': 556.41}, {'connected_gene': 'MIR3613', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 10.07}, {'connected_gene': 'EBPL', 'score': 8.41}, {'connected_gene': 'CTAGE10P', 'score': 5.97}, {'connected_gene': 'RNASEH2B', 'score': 4.09}, {'connected_gene': 'KCNRG', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.13}]
chr13	GH13I049927	49927584	49928330	0.2	[{'connected_gene': 'TRIM13', 'score': 9.92}, {'connected_gene': 'RNY4P9', 'score': 0.37}, {'connected_gene': 'GC13M049909', 'score': 0.37}, {'connected_gene': 'GC13P049951', 'score': 0.34}, {'connected_gene': 'SPRYD7', 'score': 0.2}]
chr13	GH13I049976	49976281	49976934	0.88	[{'connected_gene': 'RNASEH2B-AS1', 'score': 10.78}, {'connected_gene': 'RNASEH2B', 'score': 10.78}, {'connected_gene': 'GC13P049980', 'score': 0.77}, {'connected_gene': 'SPRYD7', 'score': 0.37}, {'connected_gene': 'GC13P049955', 'score': 0.34}]
chr13	GH13I049981	49981571	49981725	0.22	[{'connected_gene': 'GC13P049980', 'score': 550.77}, {'connected_gene': 'KCNRG', 'score': 11.34}, {'connected_gene': 'SPRYD7', 'score': 0.39}, {'connected_gene': 'TRIM13', 'score': 0.39}]
chr13	GH13I049951	49951446	49955979	0.6	[{'connected_gene': 'GC13P049953', 'score': 550.77}, {'connected_gene': 'GC13P049954', 'score': 550.77}, {'connected_gene': 'GC13P049951', 'score': 550.77}, {'connected_gene': 'GC13P049955', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 11.55}, {'connected_gene': 'TRIM13', 'score': 10.27}, {'connected_gene': 'KPNA3', 'score': 10.2}, {'connected_gene': 'EBPL', 'score': 8.47}, {'connected_gene': 'SPRYD7', 'score': 0.26}]