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
ENST00000479673	[[49306034, 49308878], [49311481, 49311967]]	None
ENST00000343010	[[49306218, 49308878], [49311481, 49311573], [49313859, 49315342]]	[[49308612, 49308878], [49311481, 49311573], [49313859, 49314305]]
ENST00000424960	[[49308635, 49308878], [49311481, 49311573], [49314008, 49314275]]	[[49311543, 49311573], [49314008, 49314275]]
ENST00000436325	[[49308838, 49308878], [49311481, 49311573], [49313859, 49314274], [49314618, 49314652]]	[[49308838, 49308878], [49311481, 49311573], [49313859, 49314274], [49314618, 49314643]]
NM_198562	[[49306029, 49308878], [49311481, 49311573], [49313859, 49314508]]	[[49308612, 49308878], [49311481, 49311573], [49313859, 49314305]]

Promoter

Chrom	Start	End	Description
chr3	49314601	49314614	CAGE_peak_3_at_C3orf62_5end
chr3	49314622	49314638	CAGE_peak_1_at_C3orf62_5end
chr3	49314640	49314658	CAGE_peak_2_at_C3orf62_5end
chr3	49314660	49314669	CAGE_peak_5_at_C3orf62_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I049408	49408988	49409117	0.66	[{'connected_gene': 'USP4', 'score': 10.46}, {'connected_gene': 'C3orf62', 'score': 10.37}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'TCTA', 'score': 0.77}, {'connected_gene': 'RHOA', 'score': 0.77}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3	GH03I049338	49338697	49353402	2.66	[{'connected_gene': 'USP4', 'score': 565.03}, {'connected_gene': 'AMT', 'score': 71.69}, {'connected_gene': 'QRICH1', 'score': 41.08}, {'connected_gene': 'ENSG00000235236', 'score': 38.82}, {'connected_gene': 'RBM6', 'score': 32.91}, {'connected_gene': 'ATRIP', 'score': 29.45}, {'connected_gene': 'RBM5', 'score': 29.3}, {'connected_gene': 'WDR6', 'score': 28.82}, {'connected_gene': 'IP6K2', 'score': 27.4}, {'connected_gene': 'ENSG00000230454', 'score': 23.04}, {'connected_gene': 'DALRD3', 'score': 17.18}, {'connected_gene': 'RHOA', 'score': 16.73}, {'connected_gene': 'NICN1', 'score': 15.66}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'USP19', 'score': 14.04}, {'connected_gene': 'TCTA', 'score': 12.02}, {'connected_gene': 'FAM212A', 'score': 11.68}, {'connected_gene': 'APEH', 'score': 11.53}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 11.06}, {'connected_gene': 'NAT6', 'score': 11.0}, {'connected_gene': 'C3orf62', 'score': 10.9}, {'connected_gene': 'IMPDH2', 'score': 10.5}, {'connected_gene': 'NDUFAF3', 'score': 10.5}, {'connected_gene': 'MIR191', 'score': 10.5}, {'connected_gene': 'MIR425', 'score': 10.5}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 9.64}, {'connected_gene': 'CDHR4', 'score': 5.64}, {'connected_gene': 'ARIH2', 'score': 3.95}, {'connected_gene': 'MST1', 'score': 3.73}, {'connected_gene': 'IP6K1', 'score': 3.52}, {'connected_gene': 'UBA7', 'score': 2.45}, {'connected_gene': 'GC03M049358', 'score': 0.39}]
chr3	GH03I049409	49409349	49418264	2.46	[{'connected_gene': 'RHOA', 'score': 550.77}, {'connected_gene': 'TCTA', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 45.15}, {'connected_gene': 'CCDC71', 'score': 22.23}, {'connected_gene': 'WDR6', 'score': 15.54}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.38}, {'connected_gene': 'QRICH1', 'score': 12.91}, {'connected_gene': 'FAM212A', 'score': 11.87}, {'connected_gene': 'RBM5', 'score': 11.82}, {'connected_gene': 'RNA5SP130', 'score': 11.64}, {'connected_gene': 'DAG1', 'score': 11.64}, {'connected_gene': 'TMEM115', 'score': 11.6}, {'connected_gene': 'USP4', 'score': 11.39}, {'connected_gene': 'KLHDC8B', 'score': 10.49}, {'connected_gene': 'C3orf62', 'score': 10.38}, {'connected_gene': 'LAMB2', 'score': 9.92}, {'connected_gene': 'APEH', 'score': 7.28}, {'connected_gene': 'NICN1', 'score': 6.0}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'GC03P049421', 'score': 0.44}, {'connected_gene': 'ENSG00000283189', 'score': 0.37}]
chr3	GH03I049309	49309625	49309902	0.22	[{'connected_gene': 'C3orf62', 'score': 12.15}, {'connected_gene': 'USP4', 'score': 12.15}, {'connected_gene': 'KLHDC8B', 'score': 11.14}, {'connected_gene': 'CCDC71', 'score': 11.14}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.41}, {'connected_gene': 'QARS', 'score': 10.34}, {'connected_gene': 'BSN', 'score': 9.95}, {'connected_gene': 'NICN1', 'score': 4.39}]
chr3	GH03I049296	49296848	49296997	0.38	[{'connected_gene': 'C3orf62', 'score': 0.37}, {'connected_gene': 'USP4', 'score': 0.26}]
chr3	GH03I049275	49275709	49280063	1.72	[{'connected_gene': 'C3orf62', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 51.27}, {'connected_gene': 'AMT', 'score': 41.86}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'USP4', 'score': 0.21}]
chr3	GH03I049406	49406002	49408200	0.85	[{'connected_gene': 'AMT', 'score': 36.06}, {'connected_gene': 'USP4', 'score': 14.76}, {'connected_gene': 'C3orf62', 'score': 10.39}, {'connected_gene': 'CCDC71', 'score': 10.14}, {'connected_gene': 'KLHDC8B', 'score': 10.14}, {'connected_gene': 'MST1', 'score': 3.69}, {'connected_gene': 'RHOA', 'score': 0.44}, {'connected_gene': 'TCTA', 'score': 0.44}, {'connected_gene': 'RHOA-IT1', 'score': 0.26}]
chr3	GH03I049332	49332481	49333762	0.6	[{'connected_gene': 'AMT', 'score': 19.99}, {'connected_gene': 'APEH', 'score': 5.93}, {'connected_gene': 'USP4', 'score': 0.44}, {'connected_gene': 'C3orf62', 'score': 0.22}]
chr3	GH03I049248	49248202	49249657	1.18	[{'connected_gene': 'AMT', 'score': 41.11}, {'connected_gene': 'WDR6', 'score': 37.21}, {'connected_gene': 'USP4', 'score': 19.83}, {'connected_gene': 'C3orf62', 'score': 11.71}, {'connected_gene': 'LAMB2', 'score': 11.1}, {'connected_gene': 'KLHDC8B', 'score': 10.71}, {'connected_gene': 'CCDC71', 'score': 10.7}, {'connected_gene': 'DALRD3', 'score': 6.61}, {'connected_gene': 'RHOA', 'score': 3.57}, {'connected_gene': 'ARIH2', 'score': 2.91}, {'connected_gene': 'NDUFAF3', 'score': 1.27}, {'connected_gene': 'ENSG00000270538', 'score': 0.77}, {'connected_gene': 'PIR41977', 'score': 0.25}, {'connected_gene': 'CCDC36', 'score': 0.23}]
chr3	GH03I049170	49170417	49175414	2.04	[{'connected_gene': 'KLHDC8B', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 38.06}, {'connected_gene': 'AMT', 'score': 28.78}, {'connected_gene': 'CCDC36', 'score': 12.3}, {'connected_gene': 'LAMB2', 'score': 11.5}, {'connected_gene': 'C3orf62', 'score': 11.32}, {'connected_gene': 'USP4', 'score': 11.27}, {'connected_gene': 'QARS', 'score': 10.68}, {'connected_gene': 'C3orf84', 'score': 0.37}]
chr3	GH03I049320	49320858	49321450	0.41	[{'connected_gene': 'WDR6', 'score': 11.67}, {'connected_gene': 'C3orf62', 'score': 11.63}, {'connected_gene': 'NICN1', 'score': 11.46}, {'connected_gene': 'AMT', 'score': 11.11}, {'connected_gene': 'LAMB2', 'score': 10.43}, {'connected_gene': 'KLHDC8B', 'score': 10.42}, {'connected_gene': 'CCDC71', 'score': 10.42}, {'connected_gene': 'QARS', 'score': 9.9}, {'connected_gene': 'USP4', 'score': 9.57}, {'connected_gene': 'IP6K1', 'score': 4.06}, {'connected_gene': 'ARIH2', 'score': 3.51}, {'connected_gene': 'UBA7', 'score': 2.43}, {'connected_gene': 'NDUFAF3', 'score': 2.29}, {'connected_gene': 'ARIH2OS', 'score': 2.0}, {'connected_gene': 'USP19', 'score': 1.65}, {'connected_gene': 'DALRD3', 'score': 1.47}, {'connected_gene': 'QRICH1', 'score': 1.33}]
chr3	GH03I049217	49217655	49219708	1.18	[{'connected_gene': 'WDR6', 'score': 48.15}, {'connected_gene': 'AMT', 'score': 40.31}, {'connected_gene': 'RBM5', 'score': 12.32}, {'connected_gene': 'CCDC36', 'score': 12.28}, {'connected_gene': 'C3orf84', 'score': 12.25}, {'connected_gene': 'P4HTM', 'score': 11.79}, {'connected_gene': 'C3orf62', 'score': 11.54}, {'connected_gene': 'USP4', 'score': 11.44}, {'connected_gene': 'KLHDC8B', 'score': 11.43}, {'connected_gene': 'CCDC71', 'score': 11.41}, {'connected_gene': 'RBM6', 'score': 11.4}, {'connected_gene': 'ENSG00000271973', 'score': 10.56}, {'connected_gene': 'ENSG00000223343', 'score': 10.53}, {'connected_gene': 'QARS', 'score': 10.32}, {'connected_gene': 'ZNF589', 'score': 10.31}, {'connected_gene': 'PIR41977', 'score': 0.37}, {'connected_gene': 'ENSG00000270538', 'score': 0.29}]
chr3	GH03I049269	49269028	49272284	0.38	[{'connected_gene': 'ENSG00000199546', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 50.12}, {'connected_gene': 'WDR6', 'score': 39.95}, {'connected_gene': 'CCDC36', 'score': 11.25}, {'connected_gene': 'C3orf84', 'score': 11.24}, {'connected_gene': 'KLHDC8B', 'score': 11.21}, {'connected_gene': 'CCDC71', 'score': 11.21}, {'connected_gene': 'RNA5SP130', 'score': 10.96}, {'connected_gene': 'DAG1', 'score': 10.96}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'QARS', 'score': 10.09}, {'connected_gene': 'QRICH1', 'score': 10.08}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 9.07}, {'connected_gene': 'MIR4271', 'score': 0.77}, {'connected_gene': 'C3orf62', 'score': 0.44}]