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
ENST00000281382	[[46808075, 46808730], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842324], [46844108, 46844258]]	[[46808616, 46808730], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842303]]
ENST00000482786	[[46808423, 46808730], [46815213, 46815761]]	None
ENST00000420164	[[46808423, 46808730], [46818941, 46819064], [46819613, 46819722], [46839366, 46839413]]	[[46819046, 46819064], [46819613, 46819722], [46839366, 46839413]]
ENST00000306465	[[46808423, 46808730], [46815213, 46815318], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842324], [46844108, 46844190]]	[[46815243, 46815318], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842303]]
ENST00000412717	[[46808554, 46808730], [46819613, 46819722], [46839366, 46839483], [46842075, 46842324], [46844108, 46844194]]	[[46839372, 46839483], [46842075, 46842303]]
ENST00000495933	[[46839366, 46839483], [46840832, 46844169]]	None
ENST00000474980	[[46842156, 46842324], [46843725, 46844176]]	[[46842156, 46842303]]
NM_173074	[[46808412, 46808730], [46815213, 46815318], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842324], [46844108, 46844251]]	[[46815243, 46815318], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842303]]
NM_002643	[[46808412, 46808730], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842324], [46844108, 46844251]]	[[46808616, 46808730], [46819613, 46819722], [46839366, 46839483], [46840832, 46840924], [46842075, 46842303]]

Promoter

Chrom	Start	End	Description
chr2	46844141	46844154	CAGE_peak_2_at_PIGF_5end
chr2	46844159	46844209	CAGE_peak_1_at_PIGF_5end
chr2	46844242	46844245	CAGE_peak_3_at_PIGF_5end
chr2	46844294	46844297	CAGE_peak_4_at_PIGF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I046655	46655996	46657471	1.03	[{'connected_gene': 'SOCS5', 'score': 10.95}, {'connected_gene': 'LINC01119', 'score': 10.37}, {'connected_gene': 'ENSG00000226548', 'score': 10.35}, {'connected_gene': 'EPAS1', 'score': 9.49}, {'connected_gene': 'PIGF', 'score': 5.22}, {'connected_gene': 'ENSG00000279254', 'score': 0.39}, {'connected_gene': 'LOC105374584', 'score': 0.34}]
chr2	GH02I046615	46615585	46618274	2.07	[{'connected_gene': 'CRIPT', 'score': 568.87}, {'connected_gene': 'PIGF', 'score': 550.77}, {'connected_gene': 'ENSG00000253515', 'score': 10.86}, {'connected_gene': 'ENSG00000225187', 'score': 10.1}, {'connected_gene': 'ATP6V1E2', 'score': 7.41}]
chr2	GH02I046616	46615181	46615240	0.5	[{'connected_gene': 'CRIPT', 'score': 550.77}, {'connected_gene': 'PIGF', 'score': 550.77}, {'connected_gene': 'LOC100506142', 'score': 0.29}]
chr2	GH02I046630	46630248	46630649	0.25	[{'connected_gene': 'CRIPT', 'score': 20.13}, {'connected_gene': 'GC02M046630', 'score': 0.77}, {'connected_gene': 'PIGF', 'score': 0.39}]
chr2	GH02I046587	46587375	46590190	0.57	[{'connected_gene': 'ATP6V1E2', 'score': 22.98}, {'connected_gene': 'CRIPT', 'score': 12.99}, {'connected_gene': 'RHOQ', 'score': 11.9}, {'connected_gene': 'ENSG00000253515', 'score': 11.55}, {'connected_gene': 'LOC100506142', 'score': 0.44}, {'connected_gene': 'PIGF', 'score': 0.31}]
chr2	GH02I046582	46582660	46585725	0.2	[{'connected_gene': 'ATP6V1E2', 'score': 24.08}, {'connected_gene': 'RHOQ', 'score': 12.06}, {'connected_gene': 'ENSG00000253515', 'score': 11.29}, {'connected_gene': 'LOC100506142', 'score': 0.77}, {'connected_gene': 'CRIPT', 'score': 0.29}, {'connected_gene': 'PIGF', 'score': 0.29}]
chr2	GH02I046578	46578860	46581204	0.38	[{'connected_gene': 'LOC100506142', 'score': 550.77}, {'connected_gene': 'CRIPT', 'score': 15.03}, {'connected_gene': 'ATP6V1E2', 'score': 14.96}, {'connected_gene': 'PIGF', 'score': 6.61}, {'connected_gene': 'RHOQ', 'score': 0.28}]
chr2	GH02I046631	46631988	46633441	0.57	[{'connected_gene': 'GC02M046630', 'score': 550.77}, {'connected_gene': 'CRIPT', 'score': 19.46}, {'connected_gene': 'SOCS5', 'score': 10.6}, {'connected_gene': 'PIGF', 'score': 6.46}]
chr2	GH02I047060	47060858	47064894	1.08	[{'connected_gene': 'ENSG00000233845', 'score': 12.72}, {'connected_gene': 'CALM2', 'score': 10.98}, {'connected_gene': 'TTC7A', 'score': 4.83}, {'connected_gene': 'PIGF', 'score': 4.51}, {'connected_gene': 'ENSG00000225187', 'score': 0.77}, {'connected_gene': 'STPG4', 'score': 0.16}]