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
ENST00000162391	[[8185298, 8186429], [8192414, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202167], [8203117, 8203216], [8205357, 8208099]]	[[8192428, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202167], [8203117, 8203216], [8205357, 8205446]]
ENST00000428177	[[8185955, 8186429], [8192414, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202818]]	[[8192428, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202211]]
ENST00000539192	[[8202563, 8202667], [8202758, 8202849], [8202945, 8203036], [8203117, 8203216], [8205357, 8205609]]	None
NM_018416	[[8185358, 8186429], [8192414, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202167], [8203117, 8203216], [8205357, 8208118]]	[[8192428, 8192761], [8195253, 8195328], [8196296, 8196365], [8196546, 8196687], [8197355, 8197554], [8200477, 8200885], [8201292, 8201394], [8201957, 8202167], [8203117, 8203216], [8205357, 8205446]]

Promoter

Chrom	Start	End	Description
chr12	8185288	8185339	CAGE_peak_1_at_FOXJ2_5end
chr12	8185346	8185360	CAGE_peak_2_at_FOXJ2_5end
chr12	8186270	8186292	CAGE_peak_3_at_FOXJ2_5end
chr12	8205566	8205581	CAGE_peak_8_at_FOXJ2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I008047	8047362	8055955	0.59	[{'connected_gene': 'C3AR1', 'score': 72.21}, {'connected_gene': 'FOXJ2', 'score': 0.37}]
chr12	GH12I008057	8057477	8059000	0.99	[{'connected_gene': 'C3AR1', 'score': 73.02}, {'connected_gene': 'FOXJ2', 'score': 12.48}]
chr12	GH12I008046	8046105	8046274	0.65	[{'connected_gene': 'C3AR1', 'score': 13.14}, {'connected_gene': 'FOXJ2', 'score': 0.39}]
chr12	GH12I008063	8063401	8067265	1.77	[{'connected_gene': 'C3AR1', 'score': 562.0}, {'connected_gene': 'NECAP1', 'score': 9.9}, {'connected_gene': 'FOXJ2', 'score': 0.29}]
chr12	GH12I008036	8036645	8039400	1.25	[{'connected_gene': 'C3AR1', 'score': 14.24}, {'connected_gene': 'NECAP1', 'score': 8.3}, {'connected_gene': 'PHC1', 'score': 5.16}, {'connected_gene': 'FOXJ2', 'score': 0.44}]
chr12	GH12I007834	7834540	7835406	0.83	[{'connected_gene': 'SLC2A3', 'score': 17.36}, {'connected_gene': 'FOXJ2', 'score': 13.5}, {'connected_gene': 'SLC2A14', 'score': 12.2}, {'connected_gene': 'NANOGP1', 'score': 12.2}, {'connected_gene': 'ENSG00000255356', 'score': 12.19}, {'connected_gene': 'DPPA3', 'score': 11.03}, {'connected_gene': 'CLEC4A', 'score': 5.47}, {'connected_gene': 'NECAP1', 'score': 5.45}, {'connected_gene': 'ENSG00000201663', 'score': 0.37}, {'connected_gene': 'GC12M007850', 'score': 0.37}, {'connected_gene': 'GC12P007808', 'score': 0.31}]
chr12	GH12I007958	7958325	7962509	1.65	[{'connected_gene': 'SLC2A3', 'score': 13.12}, {'connected_gene': 'HADHAP2', 'score': 11.19}, {'connected_gene': 'NECAP1', 'score': 7.67}, {'connected_gene': 'CLEC4A', 'score': 5.6}, {'connected_gene': 'FOXJ2', 'score': 4.31}, {'connected_gene': 'GC12P007976', 'score': 0.37}]
chr12	GH12I007969	7969001	7973399	1.74	[{'connected_gene': 'SLC2A3', 'score': 21.17}, {'connected_gene': 'NECAP1', 'score': 11.03}, {'connected_gene': 'CLEC4A', 'score': 6.11}, {'connected_gene': 'FOXJ2', 'score': 4.35}, {'connected_gene': 'CLEC6A', 'score': 1.93}, {'connected_gene': 'C3AR1', 'score': 1.82}, {'connected_gene': 'GC12P007976', 'score': 0.44}]
chr12	GH12I008025	8025355	8028236	1.47	[{'connected_gene': 'POU5F1P3', 'score': 11.19}, {'connected_gene': 'M6PR', 'score': 10.98}, {'connected_gene': 'ENSG00000256967', 'score': 10.03}, {'connected_gene': 'HSPD1P12', 'score': 6.18}, {'connected_gene': 'GC12M007989', 'score': 0.77}, {'connected_gene': 'FOXJ2', 'score': 0.44}]
chr12	GH12I008031	8031757	8036322	2.15	[{'connected_gene': 'FOXJ2', 'score': 550.77}, {'connected_gene': 'C3AR1', 'score': 13.02}, {'connected_gene': 'POU5F1P3', 'score': 11.19}, {'connected_gene': 'M6PR', 'score': 10.98}, {'connected_gene': 'ENSG00000256967', 'score': 10.03}, {'connected_gene': 'NECAP1', 'score': 5.18}]
chr12	GH12I008070	8070201	8071200	0.58	[{'connected_gene': 'FOXJ2', 'score': 12.42}, {'connected_gene': 'C3AR1', 'score': 11.78}, {'connected_gene': 'DPPA3', 'score': 9.31}, {'connected_gene': 'NECAP1', 'score': 0.44}]
chr12	GH12I007989	7989210	7992070	1.25	[{'connected_gene': 'FOXJ2', 'score': 12.1}, {'connected_gene': 'HSPD1P12', 'score': 5.71}, {'connected_gene': 'POU5F1P3', 'score': 4.32}, {'connected_gene': 'RPS20P28', 'score': 0.77}, {'connected_gene': 'ENSG00000206636', 'score': 0.39}, {'connected_gene': 'GC12M007989', 'score': 0.29}]
chr12	GH12I007986	7986122	7987514	1.09	[{'connected_gene': 'FOXJ2', 'score': 12.08}, {'connected_gene': 'HSPD1P12', 'score': 5.25}, {'connected_gene': 'NECAP1', 'score': 4.6}, {'connected_gene': 'RPS20P28', 'score': 0.44}, {'connected_gene': 'ENSG00000206636', 'score': 0.39}]
chr12	GH12I007983	7983441	7983733	0.33	[{'connected_gene': 'FOXJ2', 'score': 12.08}, {'connected_gene': 'ENSG00000206636', 'score': 0.44}, {'connected_gene': 'RPS20P28', 'score': 0.39}]
chr12	GH12I007990	7989001	7989200	0.4	[{'connected_gene': 'FOXJ2', 'score': 12.1}, {'connected_gene': 'RPS20P28', 'score': 0.44}, {'connected_gene': 'ENSG00000206636', 'score': 0.39}]
chr12	GH12I008029	8029838	8030818	0.43	[{'connected_gene': 'FOXJ2', 'score': 0.77}, {'connected_gene': 'GC12M007989', 'score': 0.44}]
chr12	GH12I008947	8947845	8956581	2.52	[{'connected_gene': 'M6PR', 'score': 587.16}, {'connected_gene': 'KLRG1', 'score': 22.08}, {'connected_gene': 'LOC642846', 'score': 22.0}, {'connected_gene': 'LINC00612', 'score': 18.34}, {'connected_gene': 'PHC1', 'score': 17.89}, {'connected_gene': 'DDX12P', 'score': 14.16}, {'connected_gene': 'ENSG00000213443', 'score': 12.35}, {'connected_gene': 'FOXJ2', 'score': 10.61}, {'connected_gene': 'ENSG00000257105', 'score': 0.26}]
chr12	GH12I008492	8492401	8493874	1.08	[{'connected_gene': 'CLEC4E', 'score': 24.6}, {'connected_gene': 'CLEC4D', 'score': 24.33}, {'connected_gene': 'CLEC6A', 'score': 14.28}, {'connected_gene': 'CLEC4A', 'score': 7.88}, {'connected_gene': 'LINC00937', 'score': 6.98}, {'connected_gene': 'NECAP1', 'score': 6.88}, {'connected_gene': 'KLRG1', 'score': 5.28}, {'connected_gene': 'C3AR1', 'score': 3.02}, {'connected_gene': 'M6PR', 'score': 1.97}, {'connected_gene': 'FOXJ2', 'score': 1.57}, {'connected_gene': 'GC12P008489', 'score': 0.77}]
chr12	GH12I008087	8087334	8089427	0.99	[{'connected_gene': 'NECAP1', 'score': 12.82}, {'connected_gene': 'C3AR1', 'score': 11.44}, {'connected_gene': 'CLEC4A', 'score': 11.34}, {'connected_gene': 'FOXJ2', 'score': 10.97}, {'connected_gene': 'GC12P008091', 'score': 0.77}, {'connected_gene': 'ENSG00000284697', 'score': 0.44}]
chr12	GH12I008079	8079792	8083472	2.27	[{'connected_gene': 'NECAP1', 'score': 556.9}, {'connected_gene': 'ENSG00000284697', 'score': 550.77}, {'connected_gene': 'ENSG00000279865', 'score': 550.77}, {'connected_gene': 'FOXJ2', 'score': 22.68}, {'connected_gene': 'ENSG00000256967', 'score': 21.19}, {'connected_gene': 'M6PR', 'score': 20.19}, {'connected_gene': 'POU5F1P3', 'score': 20.16}, {'connected_gene': 'LINC00612', 'score': 19.2}, {'connected_gene': 'C1RL-AS1', 'score': 13.59}, {'connected_gene': 'HADHAP2', 'score': 11.19}]
chr12	GH12I008078	8078400	8078800	0.97	[{'connected_gene': 'NECAP1', 'score': 550.77}, {'connected_gene': 'FOXJ2', 'score': 12.44}, {'connected_gene': 'ENSG00000279865', 'score': 0.77}]
chr12	GH12I008096	8096201	8096800	0.4	[{'connected_gene': 'NECAP1', 'score': 49.43}, {'connected_gene': 'CLEC4A', 'score': 12.08}, {'connected_gene': 'FOXJ2', 'score': 10.83}, {'connected_gene': 'GC12P008103', 'score': 0.44}, {'connected_gene': 'GC12P008091', 'score': 0.44}, {'connected_gene': 'ENSG00000284697', 'score': 0.39}]
chr12	GH12I007903	7903356	7908316	1.37	[{'connected_gene': 'SLC2A14', 'score': 26.29}, {'connected_gene': 'SCARNA12', 'score': 14.75}, {'connected_gene': 'ENSG00000256967', 'score': 13.07}, {'connected_gene': 'FOXJ2', 'score': 12.59}, {'connected_gene': 'C1RL-AS1', 'score': 11.9}, {'connected_gene': 'POU5F1P3', 'score': 10.57}, {'connected_gene': 'DPPA3', 'score': 10.41}, {'connected_gene': 'GC12P007899', 'score': 0.44}, {'connected_gene': 'GC12M007881', 'score': 0.31}]
chr12	GH12I007890	7890102	7892895	2.08	[{'connected_gene': 'SLC2A14', 'score': 572.31}, {'connected_gene': 'NANOGP1', 'score': 550.77}, {'connected_gene': 'FOXJ2', 'score': 10.2}, {'connected_gene': 'ENSG00000255356', 'score': 0.44}, {'connected_gene': 'GC12M007881', 'score': 0.26}]
chr12	GH12I007833	7833965	7834114	0.31	[{'connected_gene': 'SLC2A14', 'score': 12.2}, {'connected_gene': 'NANOGP1', 'score': 12.2}, {'connected_gene': 'ENSG00000255356', 'score': 12.19}, {'connected_gene': 'DPPA3', 'score': 11.45}, {'connected_gene': 'FOXJ2', 'score': 11.09}, {'connected_gene': 'SLC2A3', 'score': 6.97}, {'connected_gene': 'ENSG00000201663', 'score': 0.37}, {'connected_gene': 'GC12M007850', 'score': 0.37}, {'connected_gene': 'GC12P007808', 'score': 0.31}]
chr12	GH12I007929	7929505	7929654	0.31	[{'connected_gene': 'SLC2A14', 'score': 12.17}, {'connected_gene': 'NANOGP1', 'score': 12.17}, {'connected_gene': 'LOC100130582', 'score': 12.11}, {'connected_gene': 'ENSG00000255356', 'score': 12.11}, {'connected_gene': 'FOXJ2', 'score': 11.06}, {'connected_gene': 'GC12M007881', 'score': 0.77}, {'connected_gene': 'SLC2A3', 'score': 0.44}, {'connected_gene': 'GC12P007899', 'score': 0.29}]
chr12	GH12I007928	7928140	7929370	0.43	[{'connected_gene': 'SLC2A14', 'score': 31.88}, {'connected_gene': 'NANOGP1', 'score': 12.17}, {'connected_gene': 'LOC100130582', 'score': 12.11}, {'connected_gene': 'ENSG00000255356', 'score': 12.11}, {'connected_gene': 'FOXJ2', 'score': 11.06}, {'connected_gene': 'GC12M007881', 'score': 0.77}, {'connected_gene': 'SLC2A3', 'score': 0.44}, {'connected_gene': 'GC12P007899', 'score': 0.31}]
chr12	GH12I007993	7993678	7996691	1.58	[{'connected_gene': 'RPS20P28', 'score': 550.77}, {'connected_gene': 'FOXJ2', 'score': 11.9}, {'connected_gene': 'DPPA3', 'score': 10.58}, {'connected_gene': 'HSPD1P12', 'score': 6.0}, {'connected_gene': 'RIMKLB', 'score': 4.4}, {'connected_gene': 'GC12M007989', 'score': 0.31}]
chr12	GH12I007886	7886105	7886274	0.69	[{'connected_gene': 'GC12M007885', 'score': 550.77}, {'connected_gene': 'DPPA3', 'score': 10.39}, {'connected_gene': 'FOXJ2', 'score': 10.38}, {'connected_gene': 'NANOGP1', 'score': 0.77}, {'connected_gene': 'SLC2A14', 'score': 0.44}, {'connected_gene': 'GC12M007881', 'score': 0.25}]
chr12	GH12I007884	7884475	7886079	0.79	[{'connected_gene': 'GC12M007885', 'score': 550.77}, {'connected_gene': 'DPPA3', 'score': 10.39}, {'connected_gene': 'FOXJ2', 'score': 10.38}, {'connected_gene': 'SLC2A14', 'score': 6.97}, {'connected_gene': 'NANOGP1', 'score': 0.44}, {'connected_gene': 'GC12M007881', 'score': 0.25}]
chr12	GH12I007932	7932375	7932464	0.4	[{'connected_gene': 'GC12M007881', 'score': 550.77}, {'connected_gene': 'SLC2A14', 'score': 12.15}, {'connected_gene': 'NANOGP1', 'score': 12.15}, {'connected_gene': 'LOC100130582', 'score': 12.1}, {'connected_gene': 'ENSG00000255356', 'score': 12.1}, {'connected_gene': 'FOXJ2', 'score': 11.06}, {'connected_gene': 'SLC2A3', 'score': 0.77}]