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
ENST00000319144	[[7975953, 7976268], [7976465, 7976636], [7976974, 7977075], [7978912, 7979034], [7979492, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982857], [7983086, 7983259], [7983552, 7983656], [7983975, 7984098], [7984201, 7984294], [7984423, 7984505], [7989333, 7989538], [7990613, 7991021]]	[[7976088, 7976268], [7976465, 7976636], [7976974, 7977075], [7978912, 7979034], [7979492, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982857], [7983086, 7983259], [7983552, 7983656], [7983975, 7984098], [7984201, 7984294], [7984423, 7984505], [7989333, 7989538], [7990613, 7990760]]
ENST00000577351	[[7976471, 7976636], [7979492, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982731]]	None
ENST00000583276	[[7979541, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982857], [7983086, 7983397]]	None
ENST00000584116	[[7979612, 7979662], [7979974, 7980061], [7980307, 7980511], [7983086, 7983413]]	None
NM_001139	[[7975953, 7976268], [7976465, 7976636], [7976974, 7977075], [7978912, 7979034], [7979492, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982857], [7983086, 7983259], [7983552, 7983656], [7983975, 7984098], [7984201, 7984294], [7984423, 7984505], [7989333, 7989538], [7990613, 7991021]]	[[7976088, 7976268], [7976465, 7976636], [7976974, 7977075], [7978912, 7979034], [7979492, 7979662], [7979974, 7980061], [7980307, 7980511], [7982713, 7982857], [7983086, 7983259], [7983552, 7983656], [7983975, 7984098], [7984201, 7984294], [7984423, 7984505], [7989333, 7989538], [7990613, 7990760]]

Promoter

Chrom	Start	End	Description
chr17	7990855	7990862	CAGE_peak_3_at_ALOX12B_5end
chr17	7990883	7990893	CAGE_peak_5_at_ALOX12B_5end
chr17	7990909	7990918	CAGE_peak_6_at_ALOX12B_5end
chr17	7991002	7991009	CAGE_peak_8_at_ALOX12B_5end
chr17	7991027	7991040	CAGE_peak_1_at_ALOX12B_5end
chr17	7991064	7991073	CAGE_peak_4_at_ALOX12B_5end
chr17	7991075	7991086	CAGE_peak_2_at_ALOX12B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I008109	8109152	8110656	1.02	[{'connected_gene': 'ALOXE3', 'score': 17.64}, {'connected_gene': 'ALOX12B', 'score': 13.67}, {'connected_gene': 'LOC107985075', 'score': 13.62}, {'connected_gene': 'ALOX15B', 'score': 11.02}, {'connected_gene': 'SNORD118', 'score': 10.66}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'KCNAB3', 'score': 10.2}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'MIR4314', 'score': 0.34}]
chr17	GH17I008072	8072743	8072892	0.46	[{'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'NAA38', 'score': 10.44}, {'connected_gene': 'TMEM88', 'score': 10.43}, {'connected_gene': 'CYB5D1', 'score': 10.43}, {'connected_gene': 'ALOXE3P1', 'score': 0.44}, {'connected_gene': 'LOC107985075', 'score': 0.44}, {'connected_gene': 'ALOX12B', 'score': 0.39}]
chr17	GH17I008060	8060303	8060472	0.65	[{'connected_gene': 'ALOX12B', 'score': 13.19}, {'connected_gene': 'ALOX15B', 'score': 11.34}, {'connected_gene': 'GUCY2D', 'score': 11.11}, {'connected_gene': 'SNORD118', 'score': 10.61}, {'connected_gene': 'TMEM107', 'score': 10.6}, {'connected_gene': 'ALOXE3P1', 'score': 0.77}, {'connected_gene': 'ENSG00000263427', 'score': 0.77}]
chr17	GH17I008087	8087843	8087992	0.59	[{'connected_gene': 'ALOX12B', 'score': 550.77}, {'connected_gene': 'MIR4314', 'score': 550.77}]
chr17	GH17I008088	8087706	8087765	0.89	[{'connected_gene': 'ALOX12B', 'score': 550.77}, {'connected_gene': 'MIR4314', 'score': 550.77}]
chr17	GH17I008079	8079195	8080787	1.44	[{'connected_gene': 'LOC107985075', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 26.12}, {'connected_gene': 'SENP3', 'score': 20.89}, {'connected_gene': 'SNORD10', 'score': 14.11}, {'connected_gene': 'RPL26', 'score': 13.9}, {'connected_gene': 'CYB5D1', 'score': 13.42}, {'connected_gene': 'SNORA48', 'score': 12.63}, {'connected_gene': 'PLSCR3', 'score': 12.36}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'PER1', 'score': 11.66}, {'connected_gene': 'KCTD11', 'score': 11.58}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'MIR324', 'score': 10.53}, {'connected_gene': 'PFAS', 'score': 10.06}, {'connected_gene': 'RANGRF', 'score': 9.96}, {'connected_gene': 'CTC1', 'score': 9.92}, {'connected_gene': 'NAA38', 'score': 5.54}, {'connected_gene': 'ALOX12B', 'score': 0.44}]
chr17	GH17I008062	8062431	8063238	0.88	[{'connected_gene': 'ALOXE3P1', 'score': 550.77}, {'connected_gene': 'ALOX12B', 'score': 13.22}, {'connected_gene': 'CYB5D1', 'score': 11.9}, {'connected_gene': 'ALOX15B', 'score': 11.34}, {'connected_gene': 'GUCY2D', 'score': 11.1}, {'connected_gene': 'SNORD118', 'score': 10.61}, {'connected_gene': 'TMEM107', 'score': 10.61}, {'connected_gene': 'HES7', 'score': 10.36}, {'connected_gene': 'ENSG00000263427', 'score': 0.44}]
chr17	GH17I008073	8073723	8073892	0.78	[{'connected_gene': 'ENSG00000263427', 'score': 44.14}, {'connected_gene': 'DVL2', 'score': 12.51}, {'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'SENP3', 'score': 10.62}, {'connected_gene': 'NAA38', 'score': 10.44}, {'connected_gene': 'TMEM88', 'score': 10.43}, {'connected_gene': 'CYB5D1', 'score': 10.43}, {'connected_gene': 'ALOXE3P1', 'score': 0.44}, {'connected_gene': 'LOC107985075', 'score': 0.44}, {'connected_gene': 'ALOX12B', 'score': 0.39}]
chr17	GH17I008055	8055601	8058221	1.15	[{'connected_gene': 'ENSG00000263427', 'score': 560.59}, {'connected_gene': 'LOC107985075', 'score': 17.24}, {'connected_gene': 'NAA38', 'score': 15.49}, {'connected_gene': 'GUCY2D', 'score': 11.64}, {'connected_gene': 'ALOX12B', 'score': 11.39}, {'connected_gene': 'KCNAB3', 'score': 11.08}, {'connected_gene': 'CNTROB', 'score': 11.08}, {'connected_gene': 'TRAPPC1', 'score': 11.08}, {'connected_gene': 'SCARNA21', 'score': 10.93}, {'connected_gene': 'CHD3', 'score': 10.92}, {'connected_gene': 'CYB5D1', 'score': 10.76}, {'connected_gene': 'TMEM88', 'score': 10.76}, {'connected_gene': 'DNAH2', 'score': 10.15}, {'connected_gene': 'KDM6B', 'score': 4.48}, {'connected_gene': 'GC17M008522', 'score': 0.37}]
chr17	GH17I008082	8082381	8082931	0.54	[{'connected_gene': 'ENSG00000263427', 'score': 7.06}, {'connected_gene': 'LOC107985075', 'score': 0.77}, {'connected_gene': 'ALOX12B', 'score': 0.44}]