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
ENST00000330106	[[787103, 788658], [790029, 790123]]	[[788126, 788576]]
ENST00000524587	[[788177, 788565], [790029, 790113]]	None
NM_016564	[[787109, 788658], [790029, 790126]]	[[788126, 788576]]

Promoter

Chrom	Start	End	Description
chr11	788232	788249	CAGE_peak_3_at_CEND1_5end
chr11	788371	788384	CAGE_peak_7_at_CEND1_5end
chr11	788579	788588	CAGE_peak_10_at_CEND1_5end
chr11	790060	790127	CAGE_peak_1_at_CEND1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000352	352222	356950	1.57	[{'connected_gene': 'IFITM1', 'score': 27.33}, {'connected_gene': 'ENSG00000251661', 'score': 18.65}, {'connected_gene': 'PGGHG', 'score': 16.31}, {'connected_gene': 'TSPAN4', 'score': 15.23}, {'connected_gene': 'LOC105376505', 'score': 13.12}, {'connected_gene': 'IFITM3', 'score': 13.12}, {'connected_gene': 'ENSG00000255089', 'score': 13.1}, {'connected_gene': 'ENSG00000254910', 'score': 13.07}, {'connected_gene': 'TMEM80', 'score': 12.57}, {'connected_gene': 'ENSG00000255026', 'score': 12.12}, {'connected_gene': 'NLRP6', 'score': 12.1}, {'connected_gene': 'SNORA52', 'score': 11.98}, {'connected_gene': 'PHRF1', 'score': 11.79}, {'connected_gene': 'BET1L', 'score': 11.06}, {'connected_gene': 'ENSG00000255237', 'score': 10.56}, {'connected_gene': 'PIDD1', 'score': 10.06}, {'connected_gene': 'B4GALNT4', 'score': 7.1}, {'connected_gene': 'IFITM2', 'score': 5.01}, {'connected_gene': 'CEND1', 'score': 1.96}, {'connected_gene': 'ENSG00000270972', 'score': 0.34}]
chr11	GH11I000839	839992	847569	2.25	[{'connected_gene': 'TSPAN4', 'score': 574.81}, {'connected_gene': 'POLR2L', 'score': 556.07}, {'connected_gene': 'GC11M000841', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 50.69}, {'connected_gene': 'SNORA52', 'score': 29.58}, {'connected_gene': 'RPLP2', 'score': 26.64}, {'connected_gene': 'TMEM80', 'score': 25.95}, {'connected_gene': 'PIDD1', 'score': 23.35}, {'connected_gene': 'RIC8A', 'score': 21.73}, {'connected_gene': 'BET1L', 'score': 15.48}, {'connected_gene': 'ENSG00000255237', 'score': 13.61}, {'connected_gene': 'B4GALNT4', 'score': 13.27}, {'connected_gene': 'PHRF1', 'score': 12.95}, {'connected_gene': 'BRSK2', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.33}, {'connected_gene': 'SLC25A22', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.32}, {'connected_gene': 'CEND1', 'score': 11.31}, {'connected_gene': 'ENSG00000255158', 'score': 10.55}, {'connected_gene': 'DEAF1', 'score': 9.95}, {'connected_gene': 'CHID1', 'score': 5.18}, {'connected_gene': 'PIR52875', 'score': 0.77}, {'connected_gene': 'ENSG00000250397', 'score': 0.37}]
chr11	GH11I000904	904864	904923	0.5	[{'connected_gene': 'CHID1', 'score': 550.39}, {'connected_gene': 'AP2A2', 'score': 11.91}, {'connected_gene': 'PIDD1', 'score': 11.02}, {'connected_gene': 'RPLP2', 'score': 11.02}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.0}, {'connected_gene': 'CD151', 'score': 8.92}, {'connected_gene': 'GC11P000900', 'score': 0.77}]
chr11	GH11I000788	788167	791555	1.51	[{'connected_gene': 'CEND1', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 63.36}, {'connected_gene': 'LOC171391', 'score': 10.69}, {'connected_gene': 'TMEM80', 'score': 7.3}, {'connected_gene': 'PIDD1', 'score': 5.0}, {'connected_gene': 'CRACR2B', 'score': 4.95}, {'connected_gene': 'ENSG00000255142', 'score': 0.44}, {'connected_gene': 'SLC25A22', 'score': 0.44}]
chr11	GH11I001051	1051121	1051390	1.02	[{'connected_gene': 'MUC2', 'score': 12.83}, {'connected_gene': 'AP2A2', 'score': 11.52}, {'connected_gene': 'PIDD1', 'score': 10.95}, {'connected_gene': 'RPLP2', 'score': 10.95}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}, {'connected_gene': 'LOC101927503', 'score': 0.39}]
chr11	GH11I000468	468188	470722	1.59	[{'connected_gene': 'HRAS', 'score': 11.17}, {'connected_gene': 'CEND1', 'score': 2.36}, {'connected_gene': 'B4GALNT4', 'score': 2.12}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.34}, {'connected_gene': 'GC11P000498', 'score': 0.31}]
chr11	GH11I000657	657246	658592	0.72	[{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11	GH11I000898	898121	898350	0.49	[{'connected_gene': 'AP2A2', 'score': 11.92}, {'connected_gene': 'PIDD1', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 11.03}, {'connected_gene': 'SLC25A22', 'score': 11.02}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'CD151', 'score': 9.96}, {'connected_gene': 'GC11P000900', 'score': 0.77}, {'connected_gene': 'GC11M000881', 'score': 0.37}, {'connected_gene': 'CHID1', 'score': 0.37}]
chr11	GH11I001050	1050670	1051038	0.72	[{'connected_gene': 'AP2A2', 'score': 11.41}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 10.16}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'LOC101927503', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 4.32}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}]
chr11	GH11I000924	924301	929307	2.62	[{'connected_gene': 'AP2A2', 'score': 558.7}, {'connected_gene': 'GC11M000925', 'score': 550.77}, {'connected_gene': 'POLR2L', 'score': 5.58}, {'connected_gene': 'LRRC56', 'score': 4.87}, {'connected_gene': 'BRSK2', 'score': 1.94}, {'connected_gene': 'CEND1', 'score': 1.3}]
chr11	GH11I000995	995741	995890	0.66	[{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11	GH11I000996	995361	995470	0.38	[{'connected_gene': 'RNU6-1025P', 'score': 11.83}, {'connected_gene': 'AP2A2', 'score': 11.78}, {'connected_gene': 'PIDD1', 'score': 10.69}, {'connected_gene': 'RPLP2', 'score': 10.69}, {'connected_gene': 'SLC25A22', 'score': 10.69}, {'connected_gene': 'CEND1', 'score': 10.68}, {'connected_gene': 'GC11M000999', 'score': 0.39}, {'connected_gene': 'GC11P000968', 'score': 0.31}]
chr11	GH11I000514	514302	516144	0.58	[{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11	GH11I000836	836784	839613	1.13	[{'connected_gene': 'GC11M000839', 'score': 550.77}, {'connected_gene': 'CD151', 'score': 62.43}, {'connected_gene': 'SNORA52', 'score': 12.55}, {'connected_gene': 'PIDD1', 'score': 12.55}, {'connected_gene': 'RPLP2', 'score': 12.55}, {'connected_gene': 'SLC25A22', 'score': 11.36}, {'connected_gene': 'CEND1', 'score': 11.33}, {'connected_gene': 'AP2A2', 'score': 11.31}, {'connected_gene': 'POLR2L', 'score': 0.77}, {'connected_gene': 'PIR52875', 'score': 0.77}]
chr11	GH11I000662	662801	662970	0.72	[{'connected_gene': 'GC11P000663', 'score': 550.77}, {'connected_gene': 'EPS8L2', 'score': 12.12}, {'connected_gene': 'TMEM80', 'score': 12.12}, {'connected_gene': 'CDHR5', 'score': 12.09}, {'connected_gene': 'DEAF1', 'score': 12.09}, {'connected_gene': 'IRF7', 'score': 12.06}, {'connected_gene': 'LOC171391', 'score': 11.54}, {'connected_gene': 'GATD1', 'score': 11.54}, {'connected_gene': 'ENSG00000255142', 'score': 11.53}, {'connected_gene': 'CEND1', 'score': 11.16}, {'connected_gene': 'SLC25A22', 'score': 11.15}, {'connected_gene': 'PIDD1', 'score': 11.15}, {'connected_gene': 'RPLP2', 'score': 11.15}, {'connected_gene': 'GC11P000654', 'score': 0.44}]
chr11	GH11I000654	654861	655777	1.04	[{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11	GH11I000782	782963	784599	1.11	[{'connected_gene': 'ENSG00000255108', 'score': 66.83}, {'connected_gene': 'LOC171391', 'score': 10.82}, {'connected_gene': 'ENSG00000255142', 'score': 0.77}, {'connected_gene': 'CEND1', 'score': 0.44}]
chr11	GH11I000967	967692	969046	0.31	[{'connected_gene': 'GC11P000968', 'score': 550.77}, {'connected_gene': 'AP2A2', 'score': 18.66}, {'connected_gene': 'CHID1', 'score': 11.41}, {'connected_gene': 'LOC101927503', 'score': 6.83}, {'connected_gene': 'CEND1', 'score': 4.68}, {'connected_gene': 'SIGIRR', 'score': 4.55}, {'connected_gene': 'RNU6-1025P', 'score': 0.37}]