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
ENST00000216373	[[50583846, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50641171, 50641270], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698276]]	[[50585061, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50641171, 50641270], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698001]]
ENST00000543680	[[50585027, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698027]]	[[50585061, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698001]]
ENST00000555794	[[50622609, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50641171, 50641270], [50647289, 50647372]]	None
ENST00000556469	[[50649172, 50649324], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50697972]]	None
ENST00000555666	[[50666418, 50666573], [50667670, 50667802], [50671001, 50671127], [50697553, 50697819]]	None
ENST00000556452	[[50667755, 50667802], [50671001, 50671127], [50682091, 50682150], [50697914, 50698080]]	[[50671060, 50671127], [50682091, 50682150], [50697914, 50698001]]
NM_006939	[[50583836, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50641171, 50641270], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698411]]	[[50585061, 50585571], [50586992, 50587102], [50596678, 50596720], [50597218, 50597480], [50600840, 50600957], [50605329, 50605502], [50606659, 50606777], [50611887, 50612050], [50612194, 50612314], [50616725, 50616948], [50619787, 50619891], [50623716, 50623839], [50625282, 50625364], [50626148, 50626804], [50628199, 50628327], [50641171, 50641270], [50647289, 50647400], [50649180, 50649324], [50655214, 50655418], [50666408, 50666573], [50667670, 50667802], [50671001, 50671127], [50697914, 50698001]]

Promoter

Chrom	Start	End	Description
chr14	50597215	50597219	CAGE_peak_18_at_SOS2_5end
chr14	50697728	50697730	CAGE_peak_10_at_SOS2_5end
chr14	50697797	50697820	CAGE_peak_13_at_SOS2_5end
chr14	50697821	50697836	CAGE_peak_14_at_SOS2_5end
chr14	50698288	50698304	CAGE_peak_1_at_SOS2_5end
chr14	50698310	50698322	CAGE_peak_3_at_SOS2_5end
chr14	50698343	50698352	CAGE_peak_6_at_SOS2_5end
chr14	50698396	50698407	CAGE_peak_5_at_SOS2_5end
chr14	50698592	50698607	CAGE_peak_2_at_SOS2_5end
chr14	50698638	50698648	CAGE_peak_8_at_SOS2_5end
chr14	50698672	50698704	CAGE_peak_4_at_SOS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050356	50356914	50359500	0.49	[{'connected_gene': 'CDKL1', 'score': 16.37}, {'connected_gene': 'ATP5S', 'score': 15.4}, {'connected_gene': 'ATL1', 'score': 10.64}, {'connected_gene': 'MAP4K5', 'score': 10.62}, {'connected_gene': 'SOS2', 'score': 9.55}, {'connected_gene': 'NIN', 'score': 8.63}, {'connected_gene': 'GC14M050342', 'score': 0.37}, {'connected_gene': 'GC14M050341', 'score': 0.37}, {'connected_gene': 'LOC105370487', 'score': 0.28}]
chr14	GH14I050225	50225090	50226399	0.92	[{'connected_gene': 'VCPKMT', 'score': 13.76}, {'connected_gene': 'SOS2', 'score': 0.44}, {'connected_gene': 'LOC105370486', 'score': 0.23}]
chr14	GH14I050115	50115388	50117732	2.24	[{'connected_gene': 'VCPKMT', 'score': 584.25}, {'connected_gene': 'RHOQP1', 'score': 11.26}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.3}, {'connected_gene': 'ATP5S', 'score': 6.17}, {'connected_gene': 'LINC01588', 'score': 0.34}, {'connected_gene': 'LINC01599', 'score': 0.34}, {'connected_gene': 'SOS2', 'score': 0.13}]
chr14	GH14I049969	49969069	49984538	1.71	[{'connected_gene': 'VCPKMT', 'score': 25.07}, {'connected_gene': 'LINC01588', 'score': 20.33}, {'connected_gene': 'RNU6-189P', 'score': 11.94}, {'connected_gene': 'RPL36AL', 'score': 6.4}, {'connected_gene': 'ARF6', 'score': 3.54}, {'connected_gene': 'NEMF', 'score': 3.1}, {'connected_gene': 'DNAAF2', 'score': 2.17}, {'connected_gene': 'ATP5S', 'score': 1.61}, {'connected_gene': 'RPS29', 'score': 1.59}, {'connected_gene': 'SOS2', 'score': 1.26}, {'connected_gene': 'GC14M049974', 'score': 0.77}, {'connected_gene': 'GC14M049971', 'score': 0.77}, {'connected_gene': 'GC14P049970', 'score': 0.44}, {'connected_gene': 'LOC105370485', 'score': 0.39}]
chr14	GH14I050095	50095379	50097671	0.95	[{'connected_gene': 'VCPKMT', 'score': 16.33}, {'connected_gene': 'RNU6-189P', 'score': 10.69}, {'connected_gene': 'SOS2', 'score': 10.38}, {'connected_gene': 'ATP5S', 'score': 9.71}, {'connected_gene': 'RPL36AL', 'score': 2.42}, {'connected_gene': 'ARF6', 'score': 2.11}, {'connected_gene': 'LINC01588', 'score': 1.97}, {'connected_gene': 'NEMF', 'score': 1.82}, {'connected_gene': 'DNAAF2', 'score': 1.6}, {'connected_gene': 'LINC01599', 'score': 0.77}]
chr14	GH14I050229	50229474	50233632	2	[{'connected_gene': 'SOS2', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 24.32}, {'connected_gene': 'ATP5S', 'score': 22.2}, {'connected_gene': 'LOC105370486', 'score': 0.22}]
chr14	GH14I049879	49879103	49885266	1.62	[{'connected_gene': 'ARF6', 'score': 6.08}, {'connected_gene': 'LINC01588', 'score': 4.9}, {'connected_gene': 'LRR1', 'score': 4.13}, {'connected_gene': 'RPL36AL', 'score': 3.07}, {'connected_gene': 'MGAT2', 'score': 1.88}, {'connected_gene': 'SOS2', 'score': 1.11}, {'connected_gene': 'LOC105378179', 'score': 0.39}]
chr14	GH14I050043	50043277	50048586	1.67	[{'connected_gene': 'LINC01588', 'score': 14.78}, {'connected_gene': 'VCPKMT', 'score': 11.31}, {'connected_gene': 'ATP5S', 'score': 6.27}, {'connected_gene': 'ARF6', 'score': 5.69}, {'connected_gene': 'ENSG00000259071', 'score': 5.22}, {'connected_gene': 'RPL36AL', 'score': 2.23}, {'connected_gene': 'SOS2', 'score': 1.5}, {'connected_gene': 'PDLIM1P1', 'score': 0.77}, {'connected_gene': 'GC14M050001', 'score': 0.26}]
chr14	GH14I050055	50055963	50056801	0.78	[{'connected_gene': 'LINC01588', 'score': 11.81}, {'connected_gene': 'VCPKMT', 'score': 11.22}, {'connected_gene': 'RNU6-189P', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 10.01}, {'connected_gene': 'SOS2', 'score': 4.88}, {'connected_gene': 'RPS15AP2', 'score': 0.77}, {'connected_gene': 'GC14P050069', 'score': 0.39}]
chr14	GH14I050334	50334460	50336944	1.16	[{'connected_gene': 'ATP5S', 'score': 29.55}, {'connected_gene': 'CDKL1', 'score': 15.69}, {'connected_gene': 'ATL1', 'score': 11.06}, {'connected_gene': 'MAP4K5', 'score': 11.05}, {'connected_gene': 'SOS2', 'score': 10.44}, {'connected_gene': 'GC14P050330', 'score': 0.44}, {'connected_gene': 'GC14M050342', 'score': 0.44}, {'connected_gene': 'GC14M050341', 'score': 0.44}]
chr14	GH14I050311	50311148	50313511	2.03	[{'connected_gene': 'ATP5S', 'score': 583.92}, {'connected_gene': 'L2HGDH', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 20.49}, {'connected_gene': 'RHOQP1', 'score': 11.25}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.32}, {'connected_gene': 'SOS2', 'score': 7.78}]
chr14	GH14I050237	50237201	50238000	0.31	[{'connected_gene': 'ATP5S', 'score': 11.08}, {'connected_gene': 'SOS2', 'score': 0.44}, {'connected_gene': 'MIR4504', 'score': 0.21}, {'connected_gene': 'L2HGDH', 'score': 0.19}]
chr14	GH14I049867	49867327	49871032	1.76	[{'connected_gene': 'LOC105378179', 'score': 550.77}, {'connected_gene': 'LINC01588', 'score': 16.4}, {'connected_gene': 'VCPKMT', 'score': 14.03}, {'connected_gene': 'RNU6-189P', 'score': 11.98}, {'connected_gene': 'ARF6', 'score': 8.78}, {'connected_gene': 'RPL36AL', 'score': 7.48}, {'connected_gene': 'LRR1', 'score': 6.03}, {'connected_gene': 'SOS2', 'score': 2.96}, {'connected_gene': 'NEMF', 'score': 1.63}, {'connected_gene': 'MGAT2', 'score': 1.17}]
chr14	GH14I050299	50299414	50300399	0.38	[{'connected_gene': 'MIR4504', 'score': 550.77}, {'connected_gene': 'L2HGDH', 'score': 0.39}, {'connected_gene': 'SOS2', 'score': 0.2}]
chr14	GH14I050080	50080660	50089596	1.57	[{'connected_gene': 'GC14P050088', 'score': 550.77}, {'connected_gene': 'ENSG00000251792', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 40.33}, {'connected_gene': 'RNU6-189P', 'score': 11.14}, {'connected_gene': 'DNAAF2', 'score': 10.72}, {'connected_gene': 'ATP5S', 'score': 9.0}, {'connected_gene': 'LINC01588', 'score': 4.03}, {'connected_gene': 'ARF6', 'score': 2.81}, {'connected_gene': 'KLHDC2', 'score': 2.48}, {'connected_gene': 'NEMF', 'score': 2.04}, {'connected_gene': 'SOS2', 'score': 1.96}, {'connected_gene': 'KLHDC1', 'score': 1.55}, {'connected_gene': 'RPL36AL', 'score': 1.44}, {'connected_gene': 'RPS29', 'score': 1.42}, {'connected_gene': 'LINC01599', 'score': 0.44}, {'connected_gene': 'RN7SKP193', 'score': 0.37}]
chr14	GH14I049910	49910945	49912631	1.38	[{'connected_gene': 'ENSG00000274704', 'score': 550.77}, {'connected_gene': 'ARF6', 'score': 7.5}, {'connected_gene': 'RPL36AL', 'score': 3.91}, {'connected_gene': 'LINC01588', 'score': 3.38}, {'connected_gene': 'MGAT2', 'score': 2.12}, {'connected_gene': 'SOS2', 'score': 1.23}, {'connected_gene': 'RNU6-189P', 'score': 0.44}]