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
ENST00000517309	[[97273942, 97274447], [97285526, 97285618], [97296336, 97296381], [97299249, 97299374], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97349223]]	[[97274268, 97274447], [97285526, 97285618], [97296336, 97296381], [97299249, 97299374], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345794]]
ENST00000455950	[[97274140, 97274447], [97285526, 97285618], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97346774]]	[[97285615, 97285618], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345794]]
ENST00000337004	[[97274140, 97274447], [97285526, 97285618], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97346780]]	[[97274268, 97274447], [97285526, 97285618], [97307325, 97307381]]
ENST00000517557	[[97274194, 97274447], [97285526, 97285618], [97296336, 97296381], [97299249, 97299616]]	None
ENST00000518776	[[97295824, 97295991], [97296336, 97296381], [97299249, 97299374], [97307325, 97307484], [97311921, 97312073], [97316267, 97316385]]	None
ENST00000522072	[[97307419, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345714], [97345905, 97346210]]	[[97311930, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345714], [97345905, 97346078]]
ENST00000517982	[[97342544, 97343323], [97345684, 97346120]]	None
NM_001290225	[[97274113, 97274447], [97285526, 97285618], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97346780]]	[[97285615, 97285618], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345794]]
NM_014754	[[97274113, 97274447], [97285526, 97285618], [97296336, 97296381], [97299249, 97299374], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97346780]]	[[97274268, 97274447], [97285526, 97285618], [97296336, 97296381], [97299249, 97299374], [97307325, 97307484], [97311921, 97312073], [97316267, 97316409], [97318671, 97318784], [97321784, 97321850], [97332473, 97332573], [97342440, 97342509], [97343253, 97343323], [97345684, 97345794]]

Promoter

Chrom	Start	End	Description
chr8	97274108	97274117	CAGE_peak_3_at_PTDSS1_5end
chr8	97274119	97274165	CAGE_peak_1_at_PTDSS1_5end
chr8	97274168	97274179	CAGE_peak_2_at_PTDSS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I096231	96231713	96231862	0.63	[{'connected_gene': 'PTDSS1', 'score': 11.71}, {'connected_gene': 'MTERF3', 'score': 11.71}, {'connected_gene': 'GDF6', 'score': 10.67}, {'connected_gene': 'UQCRB', 'score': 0.77}, {'connected_gene': 'LOC101927039', 'score': 0.77}, {'connected_gene': 'GC08P096183', 'score': 0.25}]
chr8	GH08I096325	96325978	96328782	1.09	[{'connected_gene': 'PTDSS1', 'score': 10.54}, {'connected_gene': 'MTERF3', 'score': 10.54}, {'connected_gene': 'GC08P096341', 'score': 0.39}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8	GH08I096333	96333273	96333422	0.77	[{'connected_gene': 'PTDSS1', 'score': 10.33}, {'connected_gene': 'MTERF3', 'score': 10.33}, {'connected_gene': 'GC08P096341', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.34}]
chr8	GH08I096312	96312567	96313644	0.79	[{'connected_gene': 'PTDSS1', 'score': 11.93}, {'connected_gene': 'MTERF3', 'score': 11.93}, {'connected_gene': 'ENSG00000199732', 'score': 0.77}, {'connected_gene': 'GC08P096341', 'score': 0.31}]
chr8	GH08I096324	96324536	96324812	0.2	[{'connected_gene': 'PTDSS1', 'score': 10.21}, {'connected_gene': 'MTERF3', 'score': 10.21}, {'connected_gene': 'GC08P096341', 'score': 0.37}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8	GH08I096334	96334744	96335488	0.38	[{'connected_gene': 'PTDSS1', 'score': 10.33}, {'connected_gene': 'MTERF3', 'score': 10.33}, {'connected_gene': 'GC08P096341', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.31}]
chr8	GH08I096323	96323973	96324122	0.38	[{'connected_gene': 'PTDSS1', 'score': 10.21}, {'connected_gene': 'MTERF3', 'score': 10.21}, {'connected_gene': 'ENSG00000199732', 'score': 0.39}, {'connected_gene': 'GC08P096341', 'score': 0.37}]
chr8	GH08I096233	96233555	96236635	1.99	[{'connected_gene': 'UQCRB', 'score': 550.77}, {'connected_gene': 'LOC101927039', 'score': 550.77}, {'connected_gene': 'MTERF3', 'score': 21.37}, {'connected_gene': 'PTDSS1', 'score': 12.26}, {'connected_gene': 'GC08P096183', 'score': 0.23}]
chr8	GH08I096227	96227253	96227402	0.65	[{'connected_gene': 'MTERF3', 'score': 20.91}, {'connected_gene': 'PTDSS1', 'score': 11.69}, {'connected_gene': 'GDF6', 'score': 10.68}, {'connected_gene': 'UQCRB', 'score': 0.44}, {'connected_gene': 'LOC101927039', 'score': 0.44}, {'connected_gene': 'GC08P096183', 'score': 0.26}]
chr8	GH08I096260	96260138	96265430	2.09	[{'connected_gene': 'MTERF3', 'score': 559.79}, {'connected_gene': 'PTDSS1', 'score': 550.77}, {'connected_gene': 'C8orf37', 'score': 10.71}, {'connected_gene': 'GC08P096270', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.34}]
chr8	GH08I096281	96281195	96281994	0.63	[{'connected_gene': 'MTERF3', 'score': 6.77}, {'connected_gene': 'PTDSS1', 'score': 4.7}, {'connected_gene': 'LOC105375652', 'score': 0.77}, {'connected_gene': 'GC08P096270', 'score': 0.39}]
chr8	GH08I096293	96293272	96294386	0.38	[{'connected_gene': 'MTERF3', 'score': 17.95}, {'connected_gene': 'PTDSS1', 'score': 11.23}, {'connected_gene': 'LOC105375652', 'score': 0.44}, {'connected_gene': 'ENSG00000199732', 'score': 0.37}]
chr8	GH08I096283	96282630	96284240	0.56	[{'connected_gene': 'LOC105375652', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 11.85}, {'connected_gene': 'MTERF3', 'score': 11.85}, {'connected_gene': 'GC08P096270', 'score': 0.39}]
chr8	GH08I096282	96282253	96282402	0.38	[{'connected_gene': 'LOC105375652', 'score': 550.77}, {'connected_gene': 'GC08P096270', 'score': 0.39}, {'connected_gene': 'PTDSS1', 'score': 0.34}]
chr8	GH08I096309	96309959	96310142	0.2	[{'connected_gene': 'ENSG00000199732', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 11.94}, {'connected_gene': 'MTERF3', 'score': 11.94}, {'connected_gene': 'GC08P096341', 'score': 0.29}]
chr8	GH08I096337	96337313	96340712	1.35	[{'connected_gene': 'GC08P096341', 'score': 550.77}, {'connected_gene': 'PTDSS1', 'score': 9.67}, {'connected_gene': 'MTERF3', 'score': 9.67}, {'connected_gene': 'ENSG00000199732', 'score': 0.31}]
chr8	GH08I096267	96267200	96270582	0.89	[{'connected_gene': 'GC08P096270', 'score': 550.77}, {'connected_gene': 'UQCRB', 'score': 11.8}, {'connected_gene': 'LOC101927039', 'score': 11.8}, {'connected_gene': 'PTDSS1', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.37}]
chr8	GH08I096276	96276190	96276990	0.54	[{'connected_gene': 'GC08P096270', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.44}, {'connected_gene': 'PTDSS1', 'score': 0.39}]
chr8	GH08I096278	96278018	96279342	0.2	[{'connected_gene': 'GC08P096270', 'score': 0.44}, {'connected_gene': 'LOC105375652', 'score': 0.44}, {'connected_gene': 'PTDSS1', 'score': 0.37}]