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
ENST00000548946	[[93799448, 93799763], [93800922, 93801099]]	None
ENST00000318066	[[93800980, 93803855], [93804509, 93804650], [93804828, 93805075], [93835630, 93836038]]	[[93803814, 93803855], [93804509, 93804650], [93804828, 93805075], [93835630, 93835660]]
ENST00000550657	[[93802146, 93805075], [93835630, 93835719]]	[[93804646, 93805075], [93835630, 93835660]]
ENST00000549833	[[93803517, 93803855], [93804509, 93804650], [93804828, 93805075], [93818045, 93818166], [93834919, 93835032]]	[[93803814, 93803855], [93804509, 93804650], [93804828, 93804916]]
ENST00000549490	[[93803538, 93803855], [93804509, 93804650], [93804901, 93805075], [93835630, 93835674]]	[[93804590, 93804650], [93804901, 93805075], [93835630, 93835660]]
ENST00000552442	[[93803576, 93803855], [93804828, 93805075], [93835630, 93835711]]	[[93803814, 93803855], [93804828, 93805075], [93835630, 93835660]]
NM_003348	[[93802087, 93803855], [93804509, 93804650], [93804828, 93805075], [93835630, 93836026]]	[[93803814, 93803855], [93804509, 93804650], [93804828, 93805075], [93835630, 93835660]]

Promoter

Chrom	Start	End	Description
chr12	93835665	93835750	CAGE_peak_1_at_UBE2N_5end
chr12	93835845	93835855	CAGE_peak_3_at_UBE2N_5end
chr12	93835999	93836024	CAGE_peak_2_at_UBE2N_5end
chr12	93836028	93836039	CAGE_peak_4_at_UBE2N_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I093447	93447253	93448636	0.6	[{'connected_gene': 'CRADD', 'score': 2.18}, {'connected_gene': 'UBE2N', 'score': 0.77}, {'connected_gene': 'ENSG00000200011', 'score': 0.39}, {'connected_gene': 'GC12M093461', 'score': 0.39}]
chr12	GH12I093428	93428001	93428201	0.57	[{'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12	GH12I093001	93001954	93003796	0.98	[{'connected_gene': 'EEA1', 'score': 10.6}, {'connected_gene': 'UBE2N', 'score': 9.79}, {'connected_gene': 'LINC02413', 'score': 0.39}, {'connected_gene': 'GC12P093022', 'score': 0.37}, {'connected_gene': 'ENSG00000257322', 'score': 0.08}, {'connected_gene': 'LOC643339', 'score': 0.05}]
chr12	GH12I093429	93428400	93429000	0.38	[{'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'UBE2N', 'score': 0.39}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12	GH12I092898	92898402	92901495	1.03	[{'connected_gene': 'EEA1', 'score': 17.87}, {'connected_gene': 'RNU6-1329P', 'score': 11.17}, {'connected_gene': 'UBE2N', 'score': 5.17}, {'connected_gene': 'HNRNPA1P50', 'score': 0.37}]
chr12	GH12I092784	92784087	92785026	0.56	[{'connected_gene': 'UBE2N', 'score': 5.05}, {'connected_gene': 'GC12M092788', 'score': 0.77}, {'connected_gene': 'PLEKHG7', 'score': 0.21}, {'connected_gene': 'EEA1', 'score': 0.11}]
chr12	GH12I093419	93419545	93419694	0.65	[{'connected_gene': 'UBE2N', 'score': 12.39}, {'connected_gene': 'MRPL42', 'score': 9.49}, {'connected_gene': 'GC12M093281', 'score': 0.44}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093440	93440065	93443415	2.06	[{'connected_gene': 'UBE2N', 'score': 550.77}, {'connected_gene': 'MRPL42', 'score': 15.03}, {'connected_gene': 'GC12M093281', 'score': 0.31}]
chr12	GH12I093395	93395148	93395644	0.38	[{'connected_gene': 'UBE2N', 'score': 7.0}, {'connected_gene': 'GC12P093403', 'score': 0.77}, {'connected_gene': 'GC12P093405', 'score': 0.77}, {'connected_gene': 'PIR61938', 'score': 0.77}, {'connected_gene': 'NUDT4', 'score': 0.37}, {'connected_gene': 'GC12M093281', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093403	93403261	93405918	0.75	[{'connected_gene': 'UBE2N', 'score': 10.73}, {'connected_gene': 'RNU6-1329P', 'score': 10.2}, {'connected_gene': 'ENSG00000257252', 'score': 5.95}, {'connected_gene': 'PIR47591', 'score': 0.77}, {'connected_gene': 'GC12M093281', 'score': 0.44}, {'connected_gene': 'NUDT4', 'score': 0.31}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093101	93101363	93103909	0.77	[{'connected_gene': 'UBE2N', 'score': 9.9}, {'connected_gene': 'LOC105369908', 'score': 0.44}, {'connected_gene': 'ENSG00000257746', 'score': 0.39}, {'connected_gene': 'GC12M093115', 'score': 0.37}, {'connected_gene': 'ENSG00000257322', 'score': 0.14}, {'connected_gene': 'LOC643339', 'score': 0.06}]
chr12	GH12I093415	93415392	93416894	1.02	[{'connected_gene': 'UBE2N', 'score': 12.36}, {'connected_gene': 'GC12M093281', 'score': 0.77}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093448	93448709	93449554	0.54	[{'connected_gene': 'UBE2N', 'score': 0.44}, {'connected_gene': 'ENSG00000200011', 'score': 0.39}, {'connected_gene': 'GC12M093461', 'score': 0.39}]
chr12	GH12I093433	93433606	93435399	0.95	[{'connected_gene': 'UBE2N', 'score': 0.44}, {'connected_gene': 'GC12M093281', 'score': 0.34}]
chr12	GH12I092601	92601324	92604545	1.5	[{'connected_gene': 'BTG1', 'score': 5.97}, {'connected_gene': 'UBE2N', 'score': 5.29}, {'connected_gene': 'LOC100287544', 'score': 5.08}, {'connected_gene': 'EEA1', 'score': 1.83}, {'connected_gene': 'LOC105369905', 'score': 0.25}, {'connected_gene': 'C12orf74', 'score': 0.15}]
chr12	GH12I092744	92744824	92747432	0.89	[{'connected_gene': 'PLEKHG7', 'score': 12.13}, {'connected_gene': 'C12orf74', 'score': 10.2}, {'connected_gene': 'EEA1', 'score': 5.24}, {'connected_gene': 'UBE2N', 'score': 4.76}, {'connected_gene': 'GC12M092788', 'score': 0.26}]
chr12	GH12I092623	92623484	92625209	0.69	[{'connected_gene': 'C12orf74', 'score': 10.76}, {'connected_gene': 'UBE2N', 'score': 4.63}, {'connected_gene': 'LOC105369905', 'score': 0.2}]
chr12	GH12I092592	92592399	92599074	1.65	[{'connected_gene': 'C12orf74', 'score': 10.23}, {'connected_gene': 'BTG1', 'score': 8.38}, {'connected_gene': 'UBE2N', 'score': 5.31}, {'connected_gene': 'LOC100287544', 'score': 5.02}, {'connected_gene': 'EEA1', 'score': 1.95}, {'connected_gene': 'LOC105369905', 'score': 0.28}]
chr12	GH12I092734	92734523	92735834	1.01	[{'connected_gene': 'C12orf74', 'score': 10.71}, {'connected_gene': 'RN7SL737P', 'score': 10.14}, {'connected_gene': 'UBE2N', 'score': 4.67}, {'connected_gene': 'PLEKHG7', 'score': 0.39}, {'connected_gene': 'GC12M092788', 'score': 0.23}]
chr12	GH12I093425	93425249	93427911	0.6	[{'connected_gene': 'MRPL42', 'score': 14.51}, {'connected_gene': 'EEA1', 'score': 10.15}, {'connected_gene': 'SOCS2', 'score': 6.24}, {'connected_gene': 'ENSG00000257252', 'score': 5.92}, {'connected_gene': 'GC12M093281', 'score': 0.39}, {'connected_gene': 'UBE2N', 'score': 0.37}, {'connected_gene': 'GC12P093160', 'score': 0.06}]
chr12	GH12I093406	93406762	93407958	0.54	[{'connected_gene': 'MRPL42', 'score': 12.0}, {'connected_gene': 'UBE2N', 'score': 10.73}, {'connected_gene': 'NUDT4', 'score': 5.86}, {'connected_gene': 'ENSG00000257252', 'score': 4.6}, {'connected_gene': 'GC12M093281', 'score': 0.77}, {'connected_gene': 'PIR47591', 'score': 0.44}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093466	93466905	93469003	2.07	[{'connected_gene': 'MRPL42', 'score': 570.25}, {'connected_gene': 'UBE2N', 'score': 12.29}, {'connected_gene': 'RN7SL737P', 'score': 0.26}]
chr12	GH12I093435	93435483	93438452	0.94	[{'connected_gene': 'MRPL42', 'score': 12.84}, {'connected_gene': 'ENSG00000257252', 'score': 4.47}, {'connected_gene': 'UBE2N', 'score': 0.44}, {'connected_gene': 'GC12M093281', 'score': 0.34}]
chr12	GH12I092987	92987103	92990551	1.38	[{'connected_gene': 'LINC02413', 'score': 550.77}, {'connected_gene': 'EEA1', 'score': 11.08}, {'connected_gene': 'HNRNPA1P50', 'score': 10.63}, {'connected_gene': 'UBE2N', 'score': 10.25}, {'connected_gene': 'ENSG00000271382', 'score': 10.05}, {'connected_gene': 'C12orf74', 'score': 9.95}, {'connected_gene': 'RNU6-1329P', 'score': 0.28}]
chr12	GH12I094230	94230280	94231256	0.89	[{'connected_gene': 'PLXNC1', 'score': 11.57}, {'connected_gene': 'UBE2N', 'score': 4.87}, {'connected_gene': 'ENSG00000258035', 'score': 0.26}, {'connected_gene': 'ENSG00000258172', 'score': 0.25}]
chr12	GH12I094239	94239529	94241207	0.75	[{'connected_gene': 'PLXNC1', 'score': 10.78}, {'connected_gene': 'UBE2N', 'score': 4.26}, {'connected_gene': 'ENSG00000258172', 'score': 0.28}, {'connected_gene': 'ENSG00000258035', 'score': 0.23}]
chr12	GH12I093530	93530197	93531217	0.49	[{'connected_gene': 'ENSG00000258271', 'score': 550.77}, {'connected_gene': 'SOCS2', 'score': 12.55}, {'connected_gene': 'MRPL42', 'score': 6.07}, {'connected_gene': 'UBE2N', 'score': 4.37}, {'connected_gene': 'GC12P093556', 'score': 0.31}]
chr12	GH12I093411	93411828	93411972	0.34	[{'connected_gene': 'GC12M093281', 'score': 550.77}, {'connected_gene': 'UBE2N', 'score': 11.1}, {'connected_gene': 'CRADD', 'score': 1.25}, {'connected_gene': 'PIR47591', 'score': 0.39}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093423	93423001	93423200	0.31	[{'connected_gene': 'GC12M093281', 'score': 0.39}, {'connected_gene': 'UBE2N', 'score': 0.34}, {'connected_gene': 'GC12P093160', 'score': 0.07}]
chr12	GH12I093375	93375523	93382205	2.45	[{'connected_gene': 'ENSG00000257252', 'score': 575.85}, {'connected_gene': 'NUDT4', 'score': 557.37}, {'connected_gene': 'LOC643339', 'score': 550.77}, {'connected_gene': 'ENSG00000257512', 'score': 10.52}, {'connected_gene': 'UBE2N', 'score': 6.89}, {'connected_gene': 'MRPL42', 'score': 4.43}, {'connected_gene': 'GC12P093403', 'score': 0.34}, {'connected_gene': 'GC12P093405', 'score': 0.34}, {'connected_gene': 'PIR61938', 'score': 0.34}, {'connected_gene': 'GC12M093281', 'score': 0.29}, {'connected_gene': 'GC12P093160', 'score': 0.08}]