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
ENST00000342415	[[7590431, 7590646], [7593966, 7594080], [7594331, 7594392], [7595259, 7595334], [7601568, 7601757], [7602855, 7602977], [7605630, 7605719], [7606263, 7606428], [7609057, 7612200]]	[[7590490, 7590646], [7593966, 7594080], [7594331, 7594392], [7595259, 7595334], [7601568, 7601757], [7602855, 7602977], [7605630, 7605719], [7606263, 7606428], [7609057, 7609106]]
ENST00000496946	[[7599905, 7601757], [7602855, 7602977], [7605630, 7605719], [7606263, 7606428], [7609057, 7609439]]	None
NM_152551	[[7590431, 7590646], [7593966, 7594080], [7594331, 7594392], [7595259, 7595334], [7601568, 7601757], [7602855, 7602977], [7605630, 7605719], [7606263, 7606428], [7609057, 7612200]]	[[7590490, 7590646], [7593966, 7594080], [7594331, 7594392], [7595259, 7595334], [7601568, 7601757], [7602855, 7602977], [7605630, 7605719], [7606263, 7606428], [7609057, 7609106]]

Promoter

Chrom	Start	End	Description
chr6	7590413	7590438	CAGE_peak_2_at_SNRNP48_5end
chr6	7590443	7590485	CAGE_peak_1_at_SNRNP48_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I006586	6586213	6594351	2.37	[{'connected_gene': 'LY86', 'score': 579.62}, {'connected_gene': 'RIOK1', 'score': 16.85}, {'connected_gene': 'SNRNP48', 'score': 12.11}, {'connected_gene': 'GC06M006605', 'score': 0.37}, {'connected_gene': 'LY86-AS1', 'score': 0.29}]
chr6	GH06I006771	6771452	6773566	0.7	[{'connected_gene': 'RIOK1', 'score': 21.24}, {'connected_gene': 'SSR1', 'score': 11.9}, {'connected_gene': 'SNRNP48', 'score': 10.95}, {'connected_gene': 'ENSG00000238221', 'score': 10.51}, {'connected_gene': 'GC06P006765', 'score': 0.44}, {'connected_gene': 'BTF3P7', 'score': 0.34}, {'connected_gene': 'LOC101928004', 'score': 0.31}]
chr6	GH06I006849	6849503	6852301	1.57	[{'connected_gene': 'RIOK1', 'score': 13.87}, {'connected_gene': 'RREB1', 'score': 13.79}, {'connected_gene': 'SNRNP48', 'score': 12.11}, {'connected_gene': 'ENSG00000225092', 'score': 11.16}, {'connected_gene': 'F13A1', 'score': 10.94}, {'connected_gene': 'GC06M006870', 'score': 0.34}, {'connected_gene': 'GC06M006819', 'score': 0.31}]
chr6	GH06I006653	6653883	6662400	1.64	[{'connected_gene': 'RIOK1', 'score': 13.87}, {'connected_gene': 'LY86-AS1', 'score': 12.12}, {'connected_gene': 'SNRNP48', 'score': 12.11}, {'connected_gene': 'LY86', 'score': 12.04}, {'connected_gene': 'GC06M006646', 'score': 0.39}, {'connected_gene': 'ENSG00000261211', 'score': 0.31}]
chr6	GH06I007412	7412565	7415662	0.46	[{'connected_gene': 'RIOK1', 'score': 24.24}, {'connected_gene': 'DSP', 'score': 15.96}, {'connected_gene': 'CAGE1', 'score': 11.75}, {'connected_gene': 'SSR1', 'score': 10.88}, {'connected_gene': 'ENSG00000238221', 'score': 10.88}, {'connected_gene': 'SNRNP48', 'score': 10.5}, {'connected_gene': 'GC06P007411', 'score': 0.77}, {'connected_gene': 'GC06M007418', 'score': 0.77}]
chr6	GH06I008079	8079801	8087134	1.67	[{'connected_gene': 'RIOK1', 'score': 10.57}, {'connected_gene': 'SNRNP48', 'score': 10.47}, {'connected_gene': 'EEF1E1', 'score': 6.9}, {'connected_gene': 'BLOC1S5', 'score': 5.3}, {'connected_gene': 'SCARNA27', 'score': 0.77}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.37}]
chr6	GH06I006745	6745593	6753942	1.76	[{'connected_gene': 'RIOK1', 'score': 36.2}, {'connected_gene': 'SNRNP48', 'score': 21.47}, {'connected_gene': 'SSR1', 'score': 21.42}, {'connected_gene': 'ENSG00000238221', 'score': 10.13}, {'connected_gene': 'RREB1', 'score': 5.29}, {'connected_gene': 'LY86', 'score': 2.56}, {'connected_gene': 'ENSG00000224532', 'score': 0.44}, {'connected_gene': 'LOC105374901', 'score': 0.44}, {'connected_gene': 'GC06P006721', 'score': 0.31}, {'connected_gene': 'LOC101928004', 'score': 0.25}]
chr6	GH06I007260	7260368	7262606	1.72	[{'connected_gene': 'RIOK1', 'score': 13.05}, {'connected_gene': 'SNRNP48', 'score': 11.18}, {'connected_gene': 'SSR1', 'score': 10.65}, {'connected_gene': 'GC06M007267', 'score': 0.44}, {'connected_gene': 'GC06M007238', 'score': 0.37}, {'connected_gene': 'GC06M007189', 'score': 0.23}]
chr6	GH06I006786	6786685	6788200	0.52	[{'connected_gene': 'RIOK1', 'score': 13.87}, {'connected_gene': 'SNRNP48', 'score': 12.11}, {'connected_gene': 'RREB1', 'score': 11.76}, {'connected_gene': 'ENSG00000238221', 'score': 9.88}, {'connected_gene': 'BTF3P7', 'score': 0.44}, {'connected_gene': 'LOC101928004', 'score': 0.39}, {'connected_gene': 'GC06P006765', 'score': 0.34}]
chr6	GH06I007163	7163688	7174799	2.13	[{'connected_gene': 'RIOK1', 'score': 13.92}, {'connected_gene': 'SNRNP48', 'score': 12.13}, {'connected_gene': 'RREB1', 'score': 5.06}, {'connected_gene': 'CAGE1', 'score': 1.92}, {'connected_gene': 'ENSG00000225092', 'score': 0.39}]
chr6	GH06I007640	7640481	7642075	0.8	[{'connected_gene': 'RIOK1', 'score': 13.88}, {'connected_gene': 'SNRNP48', 'score': 10.45}, {'connected_gene': 'ENSG00000238221', 'score': 9.9}, {'connected_gene': 'SLC35B3', 'score': 9.72}, {'connected_gene': 'GC06P007657', 'score': 0.37}, {'connected_gene': 'RPL29P1', 'score': 0.34}]
chr6	GH06I006699	6698468	6705253	1.35	[{'connected_gene': 'RIOK1', 'score': 13.84}, {'connected_gene': 'SNRNP48', 'score': 10.24}, {'connected_gene': 'ENSG00000238221', 'score': 9.88}, {'connected_gene': 'ENSG00000261211', 'score': 5.78}, {'connected_gene': 'PIR46156', 'score': 0.44}, {'connected_gene': 'GC06M006690', 'score': 0.44}, {'connected_gene': 'ENSG00000226281', 'score': 0.44}, {'connected_gene': 'LOC101928004', 'score': 0.15}]
chr6	GH06I007914	7914871	7916093	1.01	[{'connected_gene': 'TXNDC5', 'score': 10.81}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'EEF1E1', 'score': 4.23}, {'connected_gene': 'SNRNP48', 'score': 1.34}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I007324	7324201	7325200	0.99	[{'connected_gene': 'SSR1', 'score': 12.36}, {'connected_gene': 'ENSG00000238221', 'score': 12.01}, {'connected_gene': 'RIOK1', 'score': 10.88}, {'connected_gene': 'SNRNP48', 'score': 10.48}, {'connected_gene': 'RREB1', 'score': 4.95}, {'connected_gene': 'ENSG00000219375', 'score': 0.44}, {'connected_gene': 'GC06M007189', 'score': 0.39}]
chr6	GH06I007311	7311320	7314624	2.1	[{'connected_gene': 'SSR1', 'score': 571.08}, {'connected_gene': 'GC06M007189', 'score': 550.77}, {'connected_gene': 'CAGE1', 'score': 12.32}, {'connected_gene': 'RIOK1', 'score': 12.32}, {'connected_gene': 'ENSG00000238221', 'score': 12.11}, {'connected_gene': 'SNRNP48', 'score': 10.9}, {'connected_gene': 'GC06M007303', 'score': 0.44}]
chr6	GH06I007282	7282001	7282600	0.49	[{'connected_gene': 'SSR1', 'score': 10.48}, {'connected_gene': 'SNRNP48', 'score': 9.48}, {'connected_gene': 'DSP', 'score': 9.43}, {'connected_gene': 'ENSG00000238221', 'score': 0.44}, {'connected_gene': 'GC06M007303', 'score': 0.34}, {'connected_gene': 'GC06M007189', 'score': 0.29}]
chr6	GH06I007526	7526706	7527200	0.55	[{'connected_gene': 'LOC644051', 'score': 12.24}, {'connected_gene': 'SNRNP48', 'score': 10.71}, {'connected_gene': 'SSR1', 'score': 10.09}, {'connected_gene': 'ENSG00000238221', 'score': 9.37}, {'connected_gene': 'DSP', 'score': 0.39}]
chr6	GH06I007527	7527748	7530343	0.95	[{'connected_gene': 'LOC644051', 'score': 14.16}, {'connected_gene': 'SNRNP48', 'score': 10.71}, {'connected_gene': 'SSR1', 'score': 10.09}, {'connected_gene': 'ENSG00000238221', 'score': 10.02}, {'connected_gene': 'LOC101928076', 'score': 5.01}, {'connected_gene': 'DSP', 'score': 0.39}]
chr6	GH06I007533	7533772	7534649	0.31	[{'connected_gene': 'LOC644051', 'score': 13.87}, {'connected_gene': 'SNRNP48', 'score': 10.48}, {'connected_gene': 'DSP', 'score': 0.44}]
chr6	GH06I007445	7445889	7447485	0.65	[{'connected_gene': 'DSP', 'score': 23.57}, {'connected_gene': 'RIOK1', 'score': 14.95}, {'connected_gene': 'SNRNP48', 'score': 10.28}, {'connected_gene': 'SSR1', 'score': 10.11}, {'connected_gene': 'GC06M007440', 'score': 0.77}, {'connected_gene': 'LOC102724234', 'score': 0.37}, {'connected_gene': 'GC06P007475', 'score': 0.31}]
chr6	GH06I007540	7540481	7555695	2.47	[{'connected_gene': 'DSP', 'score': 559.33}, {'connected_gene': 'SNRNP48', 'score': 10.62}, {'connected_gene': 'LOC644051', 'score': 10.55}, {'connected_gene': 'ENSG00000238221', 'score': 10.11}, {'connected_gene': 'LOC101928076', 'score': 8.57}, {'connected_gene': 'GC06M007552', 'score': 0.44}]
chr6	GH06I007566	7566737	7568782	0.49	[{'connected_gene': 'DSP', 'score': 12.12}, {'connected_gene': 'SNRNP48', 'score': 11.44}, {'connected_gene': 'GC06M007552', 'score': 0.39}, {'connected_gene': 'PIR40806', 'score': 0.37}]
chr6	GH06I007589	7589368	7591406	2.02	[{'connected_gene': 'SNRNP48', 'score': 570.29}, {'connected_gene': 'SSR1', 'score': 11.45}, {'connected_gene': 'RIOK1', 'score': 10.79}, {'connected_gene': 'RPL29P1', 'score': 0.29}]
chr6	GH06I007532	7532321	7533441	0.79	[{'connected_gene': 'SNRNP48', 'score': 10.48}, {'connected_gene': 'LOC644051', 'score': 6.8}, {'connected_gene': 'DSP', 'score': 0.44}]
chr6	GH06I007919	7919988	7920117	1.03	[{'connected_gene': 'SNRNP48', 'score': 11.89}, {'connected_gene': 'BLOC1S5', 'score': 10.09}, {'connected_gene': 'SLC35B3', 'score': 9.88}, {'connected_gene': 'TXNDC5', 'score': 0.44}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I007115	7115127	7116450	1.09	[{'connected_gene': 'SNRNP48', 'score': 12.02}, {'connected_gene': 'RREB1', 'score': 0.44}, {'connected_gene': 'ENSG00000225092', 'score': 0.2}]
chr6	GH06I007557	7557958	7562726	1.59	[{'connected_gene': 'SNRNP48', 'score': 10.93}, {'connected_gene': 'DSP', 'score': 7.26}, {'connected_gene': 'LOC644051', 'score': 5.2}, {'connected_gene': 'GC06M007552', 'score': 0.44}, {'connected_gene': 'PIR40806', 'score': 0.34}]
chr6	GH06I007644	7644094	7645393	0.31	[{'connected_gene': 'SNRNP48', 'score': 16.96}, {'connected_gene': 'DSP', 'score': 9.83}, {'connected_gene': 'ENSG00000232234', 'score': 4.8}, {'connected_gene': 'GC06P007657', 'score': 0.39}, {'connected_gene': 'RPL29P1', 'score': 0.34}]
chr6	GH06I007629	7629068	7629217	0.2	[{'connected_gene': 'SNRNP48', 'score': 10.77}, {'connected_gene': 'RPL29P1', 'score': 0.44}, {'connected_gene': 'GC06P007657', 'score': 0.31}]
chr6	GH06I007617	7617888	7619137	1.21	[{'connected_gene': 'RPL29P1', 'score': 550.77}, {'connected_gene': 'SNRNP48', 'score': 11.63}, {'connected_gene': 'ENSG00000238221', 'score': 11.19}]
chr6	GH06I007670	7670583	7673762	1.08	[{'connected_gene': 'LOC105374906', 'score': 550.77}, {'connected_gene': 'RIOK1', 'score': 25.9}, {'connected_gene': 'SNRNP48', 'score': 13.58}, {'connected_gene': 'ENSG00000238221', 'score': 9.95}, {'connected_gene': 'GC06P007663', 'score': 0.44}]
chr6	GH06I007425	7425001	7425400	0.9	[{'connected_gene': 'LOC102724234', 'score': 550.77}, {'connected_gene': 'RIOK1', 'score': 15.59}, {'connected_gene': 'SNRNP48', 'score': 11.82}, {'connected_gene': 'DSP', 'score': 10.89}, {'connected_gene': 'ENSG00000238221', 'score': 10.84}, {'connected_gene': 'GC06M007418', 'score': 0.44}]
chr6	GH06I007586	7586746	7588338	0.92	[{'connected_gene': 'LOC100506207', 'score': 15.15}, {'connected_gene': 'DSP', 'score': 10.72}, {'connected_gene': 'ENSG00000238221', 'score': 9.67}, {'connected_gene': 'SNRNP48', 'score': 6.95}, {'connected_gene': 'PIR46754', 'score': 0.77}, {'connected_gene': 'GC06M007586', 'score': 0.77}]
chr6	GH06I007056	7056881	7061856	1.69	[{'connected_gene': 'GC06M007056', 'score': 550.77}, {'connected_gene': 'RIOK1', 'score': 13.9}, {'connected_gene': 'RREB1', 'score': 12.59}, {'connected_gene': 'SNRNP48', 'score': 12.1}, {'connected_gene': 'ENSG00000238221', 'score': 11.4}, {'connected_gene': 'DSP', 'score': 3.03}, {'connected_gene': 'GC06P007051', 'score': 0.44}]
chr6	GH06I007417	7417420	7418906	0.79	[{'connected_gene': 'GC06M007418', 'score': 550.77}, {'connected_gene': 'DSP', 'score': 16.05}, {'connected_gene': 'CAGE1', 'score': 11.72}, {'connected_gene': 'RIOK1', 'score': 11.72}, {'connected_gene': 'ENSG00000238221', 'score': 10.87}, {'connected_gene': 'SSR1', 'score': 10.87}, {'connected_gene': 'SNRNP48', 'score': 10.5}, {'connected_gene': 'GC06P007411', 'score': 0.44}]
chr6	GH06I006733	6733650	6738037	1.48	[{'connected_gene': 'ENSG00000238221', 'score': 20.97}, {'connected_gene': 'SNRNP48', 'score': 12.28}, {'connected_gene': 'RIOK1', 'score': 11.37}, {'connected_gene': 'SSR1', 'score': 11.29}, {'connected_gene': 'GC06P006721', 'score': 0.39}, {'connected_gene': 'ENSG00000224532', 'score': 0.34}, {'connected_gene': 'LOC101928004', 'score': 0.21}]
chr6	GH06I007328	7328268	7328417	0.64	[{'connected_gene': 'ENSG00000238221', 'score': 11.43}, {'connected_gene': 'SNRNP48', 'score': 9.5}, {'connected_gene': 'SSR1', 'score': 7.45}, {'connected_gene': 'ENSG00000219375', 'score': 0.77}, {'connected_gene': 'GC06M007189', 'score': 0.39}, {'connected_gene': 'CAGE1', 'score': 0.21}]
chr6	GH06I007615	7615568	7616200	0.92	[{'connected_gene': 'ENSG00000238221', 'score': 11.91}, {'connected_gene': 'RPL29P1', 'score': 0.77}, {'connected_gene': 'SNRNP48', 'score': 0.31}]