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
ENST00000509707	[[57676025, 57676350], [57677850, 57677962]]	None
ENST00000248701	[[57676026, 57676350], [57677850, 57677960], [57686701, 57686745], [57687773, 57687908]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687773, 57687828]]
ENST00000506738	[[57676026, 57676350], [57677850, 57677960], [57686701, 57686745], [57687623, 57687908]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687623, 57687828]]
ENST00000504762	[[57676037, 57676350], [57677850, 57677960], [57686701, 57686745], [57687668, 57687860]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687668, 57687828]]
NR_073419	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686745], [57687485, 57687639]]	None
NR_073417	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686705], [57687485, 57687639]]	None
NM_001271718	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686745], [57687623, 57687908]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687623, 57687828]]
NM_001271719	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686705], [57687623, 57687908]]	[[57677857, 57677960], [57686701, 57686705], [57687623, 57687828]]
NM_001271722	[[57676025, 57676350], [57687623, 57687908]]	[[57676150, 57676350], [57687623, 57687828]]
NM_001271720	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686745], [57687668, 57687908]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687668, 57687828]]
NM_001271721	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686705], [57687668, 57687908]]	[[57677857, 57677960], [57686701, 57686705], [57687668, 57687828]]
NM_021114	[[57676025, 57676350], [57677850, 57677960], [57686701, 57686745], [57687773, 57688035]]	[[57676304, 57676350], [57677850, 57677960], [57686701, 57686745], [57687773, 57687828]]
NR_073418	[[57676025, 57676350], [57686701, 57686745], [57687773, 57688035]]	None

Promoter

Chrom	Start	End	Description
chr4	57687834	57687843	CAGE_peak_2_at_SPINK2_5end
chr4	57687847	57687911	CAGE_peak_1_at_SPINK2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I056728	56728600	56729001	0.84	[{'connected_gene': 'HOPX', 'score': 28.15}, {'connected_gene': 'ENSG00000251799', 'score': 10.46}, {'connected_gene': 'SPINK2', 'score': 10.45}, {'connected_gene': 'PIR42353', 'score': 0.37}, {'connected_gene': 'LOC285453', 'score': 0.29}]
chr4	GH04I056742	56742059	56745479	0.77	[{'connected_gene': 'HOPX', 'score': 11.47}, {'connected_gene': 'ENSG00000269921', 'score': 11.21}, {'connected_gene': 'ENSG00000251799', 'score': 10.98}, {'connected_gene': 'SPINK2', 'score': 10.97}, {'connected_gene': 'LOC285453', 'score': 0.37}, {'connected_gene': 'PIR42353', 'score': 0.29}]
chr4	GH04I056637	56636616	56636682	0.31	[{'connected_gene': 'HOPX', 'score': 11.37}, {'connected_gene': 'ENSG00000251799', 'score': 10.16}, {'connected_gene': 'SPINK2', 'score': 10.16}, {'connected_gene': 'GC04P056642', 'score': 0.44}, {'connected_gene': 'GLDCP1', 'score': 0.26}, {'connected_gene': 'THEGL', 'score': 0.14}]
chr4	GH04I056636	56636818	56638019	0.31	[{'connected_gene': 'HOPX', 'score': 11.38}, {'connected_gene': 'ENSG00000251799', 'score': 10.61}, {'connected_gene': 'SPINK2', 'score': 10.61}, {'connected_gene': 'GC04P056642', 'score': 0.44}, {'connected_gene': 'GLDCP1', 'score': 0.26}, {'connected_gene': 'THEGL', 'score': 0.14}]
chr4	GH04I056648	56648300	56650965	0.38	[{'connected_gene': 'HOPX', 'score': 24.14}, {'connected_gene': 'ENSG00000251799', 'score': 10.8}, {'connected_gene': 'SPINK2', 'score': 10.79}, {'connected_gene': 'LOC101928815', 'score': 0.77}, {'connected_gene': 'GC04P056642', 'score': 0.44}]
chr4	GH04I056652	56652118	56657466	1.97	[{'connected_gene': 'HOPX', 'score': 576.01}, {'connected_gene': 'LOC101928815', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 18.21}, {'connected_gene': 'SRP72', 'score': 15.45}, {'connected_gene': 'CEP135', 'score': 13.64}, {'connected_gene': 'POLR2B', 'score': 12.59}, {'connected_gene': 'SPINK2', 'score': 10.9}, {'connected_gene': 'ENSG00000251799', 'score': 10.89}, {'connected_gene': 'ENSG00000280285', 'score': 0.39}]
chr4	GH04I056803	56803555	56803744	0.56	[{'connected_gene': 'SRP72', 'score': 10.29}, {'connected_gene': 'REST', 'score': 10.27}, {'connected_gene': 'HOPX', 'score': 9.77}, {'connected_gene': 'SPINK2', 'score': 6.97}, {'connected_gene': 'GC04P056807', 'score': 0.77}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056836	56836600	56837000	0.79	[{'connected_gene': 'SRP72', 'score': 10.46}, {'connected_gene': 'REST', 'score': 10.41}, {'connected_gene': 'HOPX', 'score': 10.36}, {'connected_gene': 'PAICS', 'score': 10.3}, {'connected_gene': 'PPAT', 'score': 10.3}, {'connected_gene': 'AASDH', 'score': 9.76}, {'connected_gene': 'SPINK2', 'score': 9.27}, {'connected_gene': 'GC04P056899', 'score': 0.21}]
chr4	GH04I056465	56465006	56469294	2.23	[{'connected_gene': 'SRP72', 'score': 596.62}, {'connected_gene': 'GC04M056462', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 13.2}, {'connected_gene': 'PPAT', 'score': 11.91}, {'connected_gene': 'PAICS', 'score': 11.91}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'ARL9', 'score': 8.07}]
chr4	GH04I056844	56844895	56845044	0.46	[{'connected_gene': 'SPINK2', 'score': 11.58}, {'connected_gene': 'ENSG00000251799', 'score': 11.55}, {'connected_gene': 'REST', 'score': 10.37}, {'connected_gene': 'GC04P056899', 'score': 0.23}]
chr4	GH04I056544	56544175	56545414	1.21	[{'connected_gene': 'SPINK2', 'score': 10.84}, {'connected_gene': 'ENSG00000251799', 'score': 10.84}, {'connected_gene': 'AASDH', 'score': 10.1}, {'connected_gene': 'ARL9', 'score': 5.8}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.25}]
chr4	GH04I056799	56799363	56800904	1.05	[{'connected_gene': 'SPINK2', 'score': 12.92}, {'connected_gene': 'PAICS', 'score': 10.6}, {'connected_gene': 'PPAT', 'score': 10.6}, {'connected_gene': 'NOA1', 'score': 10.11}, {'connected_gene': 'POLR2B', 'score': 10.11}, {'connected_gene': 'SRP72', 'score': 9.91}, {'connected_gene': 'REST', 'score': 9.41}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'GC04P056807', 'score': 0.44}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I057405	57405012	57406383	0.49	[{'connected_gene': 'SPINK2', 'score': 4.55}, {'connected_gene': 'LINC02380', 'score': 0.34}, {'connected_gene': 'GC04P057376', 'score': 0.29}, {'connected_gene': 'GC04P057373', 'score': 0.29}, {'connected_gene': 'GC04P057375', 'score': 0.29}]
chr4	GH04I056822	56821195	56821344	0.43	[{'connected_gene': 'SPINK2', 'score': 550.77}, {'connected_gene': 'ENSG00000251799', 'score': 0.77}, {'connected_gene': 'GC04M056819', 'score': 0.77}]
chr4	GH04I057575	57575373	57576606	0.2	[{'connected_gene': 'SPINK2', 'score': 5.55}, {'connected_gene': 'GC04P057565', 'score': 0.39}, {'connected_gene': 'ENSG00000251049', 'score': 0.31}]
chr4	GH04I056821	56821355	56822123	1.69	[{'connected_gene': 'SPINK2', 'score': 567.54}, {'connected_gene': 'ENSG00000251799', 'score': 0.77}, {'connected_gene': 'GC04M056819', 'score': 0.77}]
chr4	GH04I056906	56906678	56911262	1.99	[{'connected_gene': 'REST', 'score': 550.77}, {'connected_gene': 'NOA1', 'score': 24.01}, {'connected_gene': 'POLR2B', 'score': 23.59}, {'connected_gene': 'AASDH', 'score': 18.18}, {'connected_gene': 'SRP72', 'score': 15.4}, {'connected_gene': 'CEP135', 'score': 13.63}, {'connected_gene': 'ENSG00000269949', 'score': 11.71}, {'connected_gene': 'SPINK2', 'score': 10.65}, {'connected_gene': 'ENSG00000251799', 'score': 10.64}, {'connected_gene': 'RNU6-998P', 'score': 9.76}, {'connected_gene': 'GC04P056945', 'score': 0.28}]
chr4	GH04I056874	56874291	56874634	0.78	[{'connected_gene': 'REST', 'score': 13.45}, {'connected_gene': 'SPINK2', 'score': 11.35}, {'connected_gene': 'ENSG00000251799', 'score': 11.34}, {'connected_gene': 'NOA1', 'score': 10.57}, {'connected_gene': 'POLR2B', 'score': 10.57}, {'connected_gene': 'HOPX', 'score': 10.33}, {'connected_gene': 'ENSG00000269949', 'score': 4.86}, {'connected_gene': 'PPAT', 'score': 3.19}, {'connected_gene': 'GC04P056899', 'score': 0.34}]
chr4	GH04I056592	56592400	56592801	0.5	[{'connected_gene': 'GLDCP1', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 10.81}, {'connected_gene': 'ENSG00000251799', 'score': 10.03}, {'connected_gene': 'SPINK2', 'score': 10.03}, {'connected_gene': 'GC04P056642', 'score': 0.23}, {'connected_gene': 'THEGL', 'score': 0.21}]
chr4	GH04I056593	56592932	56593258	0.25	[{'connected_gene': 'GLDCP1', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 10.81}, {'connected_gene': 'ENSG00000251799', 'score': 10.03}, {'connected_gene': 'SPINK2', 'score': 10.03}, {'connected_gene': 'GC04P056642', 'score': 0.25}, {'connected_gene': 'THEGL', 'score': 0.21}]
chr4	GH04I057148	57148195	57149475	0.43	[{'connected_gene': 'IGFBP7-AS1', 'score': 12.05}, {'connected_gene': 'IGFBP7', 'score': 12.05}, {'connected_gene': 'SPINK2', 'score': 4.15}, {'connected_gene': 'ENSG00000250192', 'score': 0.44}, {'connected_gene': 'GC04P057130', 'score': 0.37}]
chr4	GH04I056385	56385965	56390223	2.31	[{'connected_gene': 'AASDH', 'score': 580.6}, {'connected_gene': 'GC04P056388', 'score': 550.77}, {'connected_gene': 'ENSG00000269921', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 44.41}, {'connected_gene': 'CEP135', 'score': 12.6}, {'connected_gene': 'ENSG00000251799', 'score': 8.95}, {'connected_gene': 'SPINK2', 'score': 8.95}]
chr4	GH04I056540	56540801	56541000	0.38	[{'connected_gene': 'ARL9', 'score': 12.28}, {'connected_gene': 'SRP72', 'score': 12.19}, {'connected_gene': 'PAICS', 'score': 11.04}, {'connected_gene': 'PPAT', 'score': 11.04}, {'connected_gene': 'SPINK2', 'score': 10.4}, {'connected_gene': 'ENSG00000251799', 'score': 10.4}, {'connected_gene': 'HOPX', 'score': 10.25}, {'connected_gene': 'AASDH', 'score': 10.06}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.23}]
chr4	GH04I056459	56459545	56461102	0.64	[{'connected_gene': 'ARL9', 'score': 20.07}, {'connected_gene': 'SRP72', 'score': 13.45}, {'connected_gene': 'PAICS', 'score': 12.18}, {'connected_gene': 'PPAT', 'score': 12.18}, {'connected_gene': 'AASDH', 'score': 10.29}, {'connected_gene': 'ENSG00000251799', 'score': 10.02}, {'connected_gene': 'SPINK2', 'score': 10.02}, {'connected_gene': 'GC04P056465', 'score': 0.77}, {'connected_gene': 'GC04P056437', 'score': 0.34}, {'connected_gene': 'GC04P056436', 'score': 0.34}]
chr4	GH04I056530	56530001	56531359	1.84	[{'connected_gene': 'THEGL', 'score': 567.59}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 22.14}, {'connected_gene': 'ARL9', 'score': 19.08}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]
chr4	GH04I056531	56531515	56531664	0.38	[{'connected_gene': 'THEGL', 'score': 550.77}, {'connected_gene': 'LOC105377665', 'score': 550.77}, {'connected_gene': 'ARL9', 'score': 12.73}, {'connected_gene': 'SRP72', 'score': 12.63}, {'connected_gene': 'ENSG00000251799', 'score': 10.66}, {'connected_gene': 'SPINK2', 'score': 10.66}, {'connected_gene': 'GLDCP1', 'score': 0.21}]
chr4	GH04I056408	56408965	56411868	1.03	[{'connected_gene': 'LOC100506514', 'score': 550.77}, {'connected_gene': 'SRP72', 'score': 31.63}, {'connected_gene': 'AASDH', 'score': 30.36}, {'connected_gene': 'PPAT', 'score': 11.87}, {'connected_gene': 'PAICS', 'score': 11.87}, {'connected_gene': 'ENSG00000269921', 'score': 11.5}, {'connected_gene': 'ENSG00000251799', 'score': 10.01}, {'connected_gene': 'SPINK2', 'score': 10.01}]
chr4	GH04I056786	56786612	56788237	0.77	[{'connected_gene': 'ENSG00000251799', 'score': 12.09}, {'connected_gene': 'SPINK2', 'score': 12.09}, {'connected_gene': 'HOPX', 'score': 11.31}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'RN7SL492P', 'score': 0.44}, {'connected_gene': 'GC04M056796', 'score': 0.44}, {'connected_gene': 'LOC285453', 'score': 0.31}]
chr4	GH04I056768	56768160	56769346	0.2	[{'connected_gene': 'ENSG00000251799', 'score': 11.01}, {'connected_gene': 'SPINK2', 'score': 11.0}, {'connected_gene': 'LOC285453', 'score': 0.44}, {'connected_gene': 'RN7SL492P', 'score': 0.31}, {'connected_gene': 'GC04M056796', 'score': 0.31}]
chr4	GH04I056817	56817499	56818523	0.71	[{'connected_gene': 'ENSG00000251799', 'score': 550.77}, {'connected_gene': 'GC04M056819', 'score': 550.77}, {'connected_gene': 'SPINK2', 'score': 7.74}, {'connected_gene': 'GC04M056812', 'score': 0.44}, {'connected_gene': 'PIR57397', 'score': 0.44}]
chr4	GH04I056870	56870379	56872271	0.69	[{'connected_gene': 'ENSG00000269949', 'score': 13.7}, {'connected_gene': 'REST', 'score': 11.8}, {'connected_gene': 'SPINK2', 'score': 11.37}, {'connected_gene': 'ENSG00000251799', 'score': 11.35}, {'connected_gene': 'POLR2B', 'score': 10.49}, {'connected_gene': 'NOA1', 'score': 10.49}, {'connected_gene': 'GC04P056899', 'score': 0.31}]