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
ENST00000332780	[[49209043, 49209118], [49210068, 49210578], [49211671, 49211836], [49212174, 49212399], [49212494, 49212596], [49213037, 49213917]]	[[49210202, 49210578], [49211671, 49211836], [49212174, 49212399], [49212494, 49212596], [49213037, 49213234]]
ENST00000459846	[[49209054, 49209118], [49210068, 49210234], [49211671, 49211836], [49212174, 49212399], [49212494, 49212600]]	None
ENST00000476495	[[49210145, 49210608], [49211671, 49211836], [49212174, 49212399]]	None
ENST00000471811	[[49211620, 49211836], [49212174, 49212619]]	None
ENST00000462582	[[49212365, 49212399], [49213037, 49213835]]	None
NM_173546	[[49209017, 49209118], [49210068, 49210578], [49211671, 49211836], [49212174, 49212399], [49212494, 49212596], [49213037, 49213919]]	[[49210202, 49210578], [49211671, 49211836], [49212174, 49212399], [49212494, 49212596], [49213037, 49213234]]

Promoter

Chrom	Start	End	Description
chr3	49209005	49209019	CAGE_peak_2_at_KLHDC8B_5end
chr3	49209023	49209063	CAGE_peak_1_at_KLHDC8B_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	GH03I049191	49191814	49191873	0.68	[{'connected_gene': 'C3orf84', 'score': 550.77}, {'connected_gene': 'KLHDC8B', 'score': 0.34}]
chr3	GH03I050154	50154448	50173170	2.73	[{'connected_gene': 'SEMA3F', 'score': 560.53}, {'connected_gene': 'RBM6', 'score': 30.9}, {'connected_gene': 'RBM5', 'score': 15.13}, {'connected_gene': 'MON1A', 'score': 14.05}, {'connected_gene': 'GNAI2', 'score': 13.23}, {'connected_gene': 'HYAL3', 'score': 12.49}, {'connected_gene': 'CYB561D2', 'score': 10.14}, {'connected_gene': 'CCDC36', 'score': 6.35}, {'connected_gene': 'MAPKAPK3', 'score': 6.18}, {'connected_gene': 'KLHDC8B', 'score': 5.35}, {'connected_gene': 'DOCK3', 'score': 4.3}, {'connected_gene': 'IFRD2', 'score': 4.12}, {'connected_gene': 'HYAL2', 'score': 3.99}, {'connected_gene': 'TUSC2', 'score': 2.74}, {'connected_gene': 'MST1R', 'score': 2.4}, {'connected_gene': 'FAM212A', 'score': 2.21}, {'connected_gene': 'GMPPB', 'score': 1.37}, {'connected_gene': 'SEMA3F-AS1', 'score': 0.44}, {'connected_gene': 'GC03P050173', 'score': 0.44}]
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	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	GH03I049181	49181339	49181618	0.26	[{'connected_gene': 'AMT', 'score': 49.06}, {'connected_gene': 'QARS', 'score': 10.35}, {'connected_gene': 'QRICH1', 'score': 10.34}, {'connected_gene': 'KLHDC8B', 'score': 0.39}, {'connected_gene': 'C3orf84', 'score': 0.39}]
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	GH03I049265	49265022	49267639	0.72	[{'connected_gene': 'WDR6', 'score': 39.83}, {'connected_gene': 'QRICH1', 'score': 30.92}, {'connected_gene': 'AMT', 'score': 20.71}, {'connected_gene': 'RBM5', 'score': 16.63}, {'connected_gene': 'RBM6', 'score': 16.12}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.61}, {'connected_gene': 'NME6', 'score': 14.28}, {'connected_gene': 'IP6K2', 'score': 14.21}, {'connected_gene': 'USP19', 'score': 14.08}, {'connected_gene': 'ATRIP', 'score': 13.03}, {'connected_gene': 'NICN1', 'score': 12.02}, {'connected_gene': 'ENSG00000235236', 'score': 11.66}, {'connected_gene': 'CCDC36', 'score': 11.53}, {'connected_gene': 'C3orf84', 'score': 11.52}, {'connected_gene': 'KLHDC8B', 'score': 11.17}, {'connected_gene': 'CCDC71', 'score': 11.17}, {'connected_gene': 'ENSG00000223343', 'score': 11.11}, {'connected_gene': 'RHOA-IT1', 'score': 10.87}, {'connected_gene': 'FCF1P2', 'score': 10.76}, {'connected_gene': 'LAMB2', 'score': 10.7}, {'connected_gene': 'RHOA', 'score': 10.48}, {'connected_gene': 'TCTA', 'score': 10.48}, {'connected_gene': 'P4HTM', 'score': 10.45}, {'connected_gene': 'QARS', 'score': 10.18}, {'connected_gene': 'BSN', 'score': 9.37}, {'connected_gene': 'BSN-AS2', 'score': 8.89}, {'connected_gene': 'ENSG00000199546', 'score': 0.77}, {'connected_gene': 'ENSG00000225399', 'score': 0.44}]
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}]