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
ENST00000370500	[[89318614, 89319029], [89322888, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357301]]	[[89318895, 89319029], [89322888, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357182]]
ENST00000448623	[[89318906, 89319029], [89323055, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357179]]	[[89319001, 89319029], [89323055, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357179]]
ENST00000494819	[[89322947, 89323170], [89324363, 89324470], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357210]]	None
ENST00000418217	[[89322997, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352958, 89353050], [89357165, 89357272]]	[[89322997, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352958, 89353050], [89357165, 89357182]]
ENST00000486078	[[89325738, 89325969], [89329663, 89329797], [89357165, 89357328]]	None
ENST00000471296	[[89329668, 89329797], [89352943, 89353050], [89353374, 89353731]]	None
ENST00000471471	[[89329726, 89329797], [89352943, 89353050], [89357289, 89357627]]	None
NM_001514	[[89318320, 89319029], [89322888, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357301]]	[[89318895, 89319029], [89322888, 89323170], [89325564, 89325694], [89325822, 89325969], [89329663, 89329797], [89352943, 89353050], [89357165, 89357182]]

Promoter

Chrom	Start	End	Description
chr1	89357240	89357257	CAGE_peak_1_at_GTF2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I088867	88867368	88868527	0.56	[{'connected_gene': 'KYAT3', 'score': 32.4}, {'connected_gene': 'LOC100130455', 'score': 11.7}, {'connected_gene': 'PKN2', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 0.34}, {'connected_gene': 'GC01M088841', 'score': 0.31}]
chr1	GH01I088873	88873801	88874600	0.47	[{'connected_gene': 'PKN2', 'score': 1.93}, {'connected_gene': 'GTF2B', 'score': 0.37}, {'connected_gene': 'GC01M088841', 'score': 0.29}]
chr1	GH01I088700	88700001	88702600	1.22	[{'connected_gene': 'GBP3', 'score': 14.58}, {'connected_gene': 'PKN2', 'score': 10.9}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 7.95}, {'connected_gene': 'GBP2', 'score': 6.73}, {'connected_gene': 'GBP4', 'score': 3.37}, {'connected_gene': 'GBP1', 'score': 2.6}, {'connected_gene': 'GC01P088703', 'score': 0.77}, {'connected_gene': 'PKN2-AS1', 'score': 0.37}]
chr1	GH01I088889	88889569	88893602	2.42	[{'connected_gene': 'GTF2B', 'score': 550.77}, {'connected_gene': 'KYAT3', 'score': 65.83}, {'connected_gene': 'PKN2', 'score': 41.89}, {'connected_gene': 'ELOCP19', 'score': 13.9}, {'connected_gene': 'LOC100130455', 'score': 13.11}, {'connected_gene': 'PTGES3P1', 'score': 9.81}, {'connected_gene': 'RBMXL1', 'score': 4.45}, {'connected_gene': 'GC01M088841', 'score': 0.25}]
chr1	GH01I088837	88837386	88837510	0.24	[{'connected_gene': 'GTF2B', 'score': 2.39}, {'connected_gene': 'GBP2', 'score': 1.38}, {'connected_gene': 'GBP4', 'score': 1.22}, {'connected_gene': 'ELOCP19', 'score': 0.44}, {'connected_gene': 'GC01M088841', 'score': 0.44}]
chr1	GH01I088890	88889001	88889200	0.31	[{'connected_gene': 'GTF2B', 'score': 0.77}, {'connected_gene': 'GC01M088841', 'score': 0.25}]
chr1	GH01I089888	89888493	89891498	1.41	[{'connected_gene': 'ZNF326', 'score': 11.78}, {'connected_gene': 'GTF2B', 'score': 11.29}, {'connected_gene': 'LOC105378853', 'score': 10.34}, {'connected_gene': 'LOC100130455', 'score': 9.75}, {'connected_gene': 'LRRC8D', 'score': 6.18}, {'connected_gene': 'GC01M089909', 'score': 0.37}, {'connected_gene': 'GC01P089867', 'score': 0.34}, {'connected_gene': 'ENSG00000271949', 'score': 0.07}]
chr1	GH01I089354	89354201	89354600	0.66	[{'connected_gene': 'GBP2', 'score': 13.37}, {'connected_gene': 'GBP5', 'score': 10.15}, {'connected_gene': 'GBP1', 'score': 9.3}, {'connected_gene': 'GBP4', 'score': 7.52}, {'connected_gene': 'GTF2B', 'score': 5.81}, {'connected_gene': 'KYAT3', 'score': 2.76}, {'connected_gene': 'LRRC8C', 'score': 1.7}, {'connected_gene': 'GBP6', 'score': 0.44}, {'connected_gene': 'PIR56754', 'score': 0.39}]
chr1	GH01I089069	89069665	89070800	1.04	[{'connected_gene': 'GBP1', 'score': 47.24}, {'connected_gene': 'GBP5', 'score': 29.84}, {'connected_gene': 'GBP7', 'score': 26.06}, {'connected_gene': 'GBP4', 'score': 24.99}, {'connected_gene': 'GBP2', 'score': 11.45}, {'connected_gene': 'GBP6', 'score': 10.26}, {'connected_gene': 'GBP3', 'score': 9.61}, {'connected_gene': 'GTF2B', 'score': 6.02}, {'connected_gene': 'GC01M089104', 'score': 0.29}, {'connected_gene': 'LOC105378841', 'score': 0.28}]
chr1	GH01I089312	89312775	89312821	0.24	[{'connected_gene': 'GBP1', 'score': 22.78}, {'connected_gene': 'GBP5', 'score': 18.53}, {'connected_gene': 'GBP2', 'score': 14.01}, {'connected_gene': 'GBP4', 'score': 13.07}, {'connected_gene': 'GTF2B', 'score': 6.64}, {'connected_gene': 'LRRC8C', 'score': 2.54}, {'connected_gene': 'ENSG00000233235', 'score': 0.39}, {'connected_gene': 'GC01P089291', 'score': 0.34}]
chr1	GH01I089351	89351593	89351858	0.4	[{'connected_gene': 'GBP1', 'score': 39.0}, {'connected_gene': 'GBP5', 'score': 34.74}, {'connected_gene': 'GBP4', 'score': 17.32}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GTF2B', 'score': 8.28}, {'connected_gene': 'LRRC8C', 'score': 3.82}, {'connected_gene': 'GBP3', 'score': 2.34}, {'connected_gene': 'PIR56754', 'score': 0.44}, {'connected_gene': 'GBP6', 'score': 0.39}]
chr1	GH01I089309	89309629	89312167	1.36	[{'connected_gene': 'GBP1', 'score': 51.98}, {'connected_gene': 'GBP5', 'score': 34.0}, {'connected_gene': 'GBP4', 'score': 21.86}, {'connected_gene': 'GBP2', 'score': 15.91}, {'connected_gene': 'GTF2B', 'score': 7.81}, {'connected_gene': 'PKN2', 'score': 5.22}, {'connected_gene': 'GBP3', 'score': 4.79}, {'connected_gene': 'LOC101927975', 'score': 4.24}, {'connected_gene': 'LRRC8C', 'score': 3.57}, {'connected_gene': 'ENSG00000233235', 'score': 0.39}, {'connected_gene': 'GC01P089291', 'score': 0.37}]
chr1	GH01I089068	89068790	89069114	0.34	[{'connected_gene': 'GBP1', 'score': 10.51}, {'connected_gene': 'GBP5', 'score': 4.68}, {'connected_gene': 'GBP4', 'score': 4.02}, {'connected_gene': 'GBP2', 'score': 3.08}, {'connected_gene': 'GTF2B', 'score': 1.88}, {'connected_gene': 'LOC105378841', 'score': 0.29}, {'connected_gene': 'GC01M089104', 'score': 0.28}]
chr1	GH01I089284	89284727	89288153	1.33	[{'connected_gene': 'GBP1', 'score': 61.46}, {'connected_gene': 'GBP5', 'score': 35.65}, {'connected_gene': 'GBP4', 'score': 35.19}, {'connected_gene': 'GBP2', 'score': 14.64}, {'connected_gene': 'GBP6', 'score': 10.85}, {'connected_gene': 'GTF2B', 'score': 7.4}, {'connected_gene': 'LRRC8C', 'score': 3.51}, {'connected_gene': 'GBP3', 'score': 1.71}, {'connected_gene': 'LOC729930', 'score': 0.77}, {'connected_gene': 'GC01P089283', 'score': 0.77}, {'connected_gene': 'LOC100421401', 'score': 0.25}]
chr1	GH01I089277	89277765	89280569	1.09	[{'connected_gene': 'GBP1', 'score': 35.51}, {'connected_gene': 'GBP5', 'score': 32.1}, {'connected_gene': 'GBP4', 'score': 29.22}, {'connected_gene': 'GBP2', 'score': 12.04}, {'connected_gene': 'LOC100421401', 'score': 10.69}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GTF2B', 'score': 5.74}, {'connected_gene': 'LRRC8C', 'score': 2.83}, {'connected_gene': 'KYAT3', 'score': 1.73}, {'connected_gene': 'GBP3', 'score': 1.7}, {'connected_gene': 'GC01P089283', 'score': 0.77}]
chr1	GH01I089523	89523254	89526856	2.29	[{'connected_gene': 'LRRC8B', 'score': 561.47}, {'connected_gene': 'PKN2', 'score': 26.17}, {'connected_gene': 'GTF2B', 'score': 15.28}, {'connected_gene': 'ELOCP19', 'score': 4.29}, {'connected_gene': 'LOC105378845', 'score': 0.29}]
chr1	GH01I089271	89271717	89275687	1.89	[{'connected_gene': 'GBP5', 'score': 580.88}, {'connected_gene': 'GBP1', 'score': 62.68}, {'connected_gene': 'GBP4', 'score': 25.28}, {'connected_gene': 'GBP2', 'score': 25.21}, {'connected_gene': 'GTF2B', 'score': 13.97}, {'connected_gene': 'GBP3', 'score': 12.44}, {'connected_gene': 'LRRC8C', 'score': 9.67}, {'connected_gene': 'GC01P089283', 'score': 0.44}, {'connected_gene': 'LOC100421401', 'score': 0.28}]
chr1	GH01I089128	89128396	89130169	1.32	[{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP1', 'score': 45.8}, {'connected_gene': 'GBP5', 'score': 33.01}, {'connected_gene': 'GBP4', 'score': 28.25}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GBP7', 'score': 10.97}, {'connected_gene': 'GTF2B', 'score': 8.76}, {'connected_gene': 'GBP3', 'score': 7.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}]
chr1	GH01I089001	89001251	89001492	0.26	[{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1	GH01I088847	88847913	88848532	0.38	[{'connected_gene': 'GC01M088841', 'score': 0.44}, {'connected_gene': 'GTF2B', 'score': 0.26}]