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
ENST00000490145	[[119373359, 119373460], [119378779, 119378910], [119393991, 119394080], [119395577, 119395769]]	[[119395632, 119395769]]
ENST00000468918	[[119378941, 119379092], [119385765, 119385829], [119393991, 119394080], [119396050, 119396301]]	[[119393995, 119394080], [119396050, 119396157]]
ENST00000261070	[[119388117, 119388512], [119393991, 119394080], [119396050, 119396250]]	[[119393995, 119394080], [119396050, 119396157]]
ENST00000486606	[[119388378, 119388512], [119393519, 119393635], [119393991, 119394080], [119396050, 119396141]]	[[119393995, 119394080], [119396050, 119396141]]
ENST00000484810	[[119388378, 119388512], [119393991, 119394080], [119395708, 119395813], [119396050, 119396193]]	[[119393995, 119394080], [119395708, 119395813], [119396050, 119396157]]
ENST00000497997	[[119388380, 119388512], [119393991, 119394424]]	None
ENST00000497116	[[119393225, 119393635], [119393991, 119394080], [119396050, 119396211]]	[[119393995, 119394080], [119396050, 119396157]]
NM_005694	[[119388371, 119388512], [119393991, 119394080], [119396050, 119396243]]	[[119393995, 119394080], [119396050, 119396157]]

Promoter

Chrom	Start	End	Description
chr3	119394083	119394103	CAGE_peak_12_at_COX17_5end
chr3	119395823	119395856	CAGE_peak_4_at_COX17_5end
chr3	119396102	119396127	CAGE_peak_2_at_COX17_5end
chr3	119396220	119396274	CAGE_peak_1_at_COX17_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119655	119655442	119656140	0.2	[{'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 4.78}, {'connected_gene': 'PLA1A', 'score': 4.45}, {'connected_gene': 'POPDC2', 'score': 0.44}, {'connected_gene': 'RPL10P7', 'score': 0.37}, {'connected_gene': 'COX17', 'score': 0.34}]
chr3	GH03I119620	119620558	119622234	0.2	[{'connected_gene': 'CD80', 'score': 16.38}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.91}, {'connected_gene': 'ADPRH', 'score': 11.42}, {'connected_gene': 'COX17', 'score': 7.18}, {'connected_gene': 'GC03M119637', 'score': 0.39}, {'connected_gene': 'LOC105374062', 'score': 0.37}]
chr3	GH03I119570	119570001	119571999	1.3	[{'connected_gene': 'CD80', 'score': 19.97}, {'connected_gene': 'PLA1A', 'score': 12.4}, {'connected_gene': 'ARHGAP31', 'score': 12.16}, {'connected_gene': 'ADPRH', 'score': 11.85}, {'connected_gene': 'POPDC2', 'score': 10.64}, {'connected_gene': 'POGLUT1', 'score': 9.71}, {'connected_gene': 'TMEM39A', 'score': 9.71}, {'connected_gene': 'COX17', 'score': 2.25}]
chr3	GH03I119518	119518509	119518999	0.25	[{'connected_gene': 'CD80', 'score': 28.27}, {'connected_gene': 'ADPRH', 'score': 12.73}, {'connected_gene': 'POGLUT1', 'score': 8.28}, {'connected_gene': 'COX17', 'score': 1.61}, {'connected_gene': 'TMEM39A', 'score': 1.54}, {'connected_gene': 'ARHGAP31', 'score': 1.54}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'PIR33513', 'score': 0.37}, {'connected_gene': 'GC03P119501', 'score': 0.37}, {'connected_gene': 'TIMMDC1', 'score': 0.34}]
chr3	GH03I119618	119618766	119620444	0.38	[{'connected_gene': 'CD80', 'score': 19.32}, {'connected_gene': 'ADPRH', 'score': 17.46}, {'connected_gene': 'PLA1A', 'score': 12.88}, {'connected_gene': 'POPDC2', 'score': 11.89}, {'connected_gene': 'COX17', 'score': 7.9}, {'connected_gene': 'POGLUT1', 'score': 6.41}, {'connected_gene': 'LOC105374062', 'score': 0.39}, {'connected_gene': 'GC03M119637', 'score': 0.37}]
chr3	GH03I119669	119669903	119670706	0.31	[{'connected_gene': 'MAATS1', 'score': 9.88}, {'connected_gene': 'LOC105374063', 'score': 0.77}, {'connected_gene': 'COX17', 'score': 0.44}]
chr3	GH03I119679	119679507	119680351	0.56	[{'connected_gene': 'MAATS1', 'score': 9.45}, {'connected_gene': 'COX17', 'score': 0.77}, {'connected_gene': 'PIR40954', 'score': 0.44}]
chr3	GH03I119659	119659128	119663853	1.5	[{'connected_gene': 'POPDC2', 'score': 571.71}, {'connected_gene': 'RPL10P7', 'score': 13.77}, {'connected_gene': 'CD80', 'score': 10.14}, {'connected_gene': 'MAATS1', 'score': 9.85}, {'connected_gene': 'ARHGAP31', 'score': 6.01}, {'connected_gene': 'PLA1A', 'score': 4.44}, {'connected_gene': 'COX17', 'score': 0.37}]
chr3	GH03I119664	119664000	119665800	1.09	[{'connected_gene': 'POPDC2', 'score': 560.43}, {'connected_gene': 'LOC105374063', 'score': 550.77}, {'connected_gene': 'MAATS1', 'score': 9.39}, {'connected_gene': 'RPL10P7', 'score': 5.02}, {'connected_gene': 'COX17', 'score': 0.39}]
chr3	GH03I119656	119656194	119658738	0.54	[{'connected_gene': 'POPDC2', 'score': 21.68}, {'connected_gene': 'COX17', 'score': 18.32}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 9.84}, {'connected_gene': 'ADPRH', 'score': 5.1}, {'connected_gene': 'RPL10P7', 'score': 5.05}, {'connected_gene': 'PLA1A', 'score': 4.26}]
chr3	GH03I119348	119348482	119354572	1.48	[{'connected_gene': 'ARHGAP31', 'score': 27.86}, {'connected_gene': 'ADPRH', 'score': 12.9}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.23}, {'connected_gene': 'CD80', 'score': 9.72}, {'connected_gene': 'B4GALT4', 'score': 8.24}, {'connected_gene': 'IGSF11', 'score': 5.51}, {'connected_gene': 'RPL10P7', 'score': 4.57}, {'connected_gene': 'COX17', 'score': 1.65}, {'connected_gene': 'GC03M119342', 'score': 0.44}, {'connected_gene': 'RNU6-1127P', 'score': 0.44}, {'connected_gene': 'GC03P119428', 'score': 0.18}]
chr3	GH03I119742	119742322	119742488	0.35	[{'connected_gene': 'ARHGAP31', 'score': 7.06}, {'connected_gene': 'ADPRH', 'score': 6.75}, {'connected_gene': 'COX17', 'score': 1.88}, {'connected_gene': 'CD80', 'score': 1.6}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'ENSG00000239994', 'score': 0.44}, {'connected_gene': 'MAATS1', 'score': 0.28}]
chr3	GH03I119425	119425729	119426147	0.25	[{'connected_gene': 'ARHGAP31', 'score': 3.27}, {'connected_gene': 'COX17', 'score': 1.86}, {'connected_gene': 'ADPRH', 'score': 1.71}, {'connected_gene': 'GC03P119428', 'score': 0.77}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}]
chr3	GH03I119595	119595328	119598332	1.73	[{'connected_gene': 'PLA1A', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 15.37}, {'connected_gene': 'ADPRH', 'score': 13.01}, {'connected_gene': 'COX17', 'score': 7.58}, {'connected_gene': 'ARHGAP31', 'score': 4.79}, {'connected_gene': 'TMEM39A', 'score': 1.65}, {'connected_gene': 'POGLUT1', 'score': 1.62}, {'connected_gene': 'ENSG00000272967', 'score': 0.37}]
chr3	GH03I119672	119672696	119675085	0.31	[{'connected_gene': 'RPL10P7', 'score': 16.63}, {'connected_gene': 'MAATS1', 'score': 12.76}, {'connected_gene': 'COX17', 'score': 12.3}, {'connected_gene': 'PLA1A', 'score': 11.41}, {'connected_gene': 'LOC105374063', 'score': 0.44}]
chr3	GH03I119635	119635913	119640405	1.77	[{'connected_gene': 'RPL10P7', 'score': 566.9}, {'connected_gene': 'ADPRH', 'score': 16.22}, {'connected_gene': 'COX17', 'score': 12.37}, {'connected_gene': 'ARHGAP31', 'score': 11.64}, {'connected_gene': 'MAATS1', 'score': 9.8}, {'connected_gene': 'PLA1A', 'score': 4.5}, {'connected_gene': 'GSK3B', 'score': 2.07}, {'connected_gene': 'GC03M119637', 'score': 0.77}, {'connected_gene': 'POPDC2', 'score': 0.31}]
chr3	GH03I119642	119642552	119644797	1.07	[{'connected_gene': 'RPL10P7', 'score': 16.56}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'ADPRH', 'score': 5.78}, {'connected_gene': 'POPDC2', 'score': 0.34}]
chr3	GH03I119626	119626787	119631999	1.5	[{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3	GH03I119612	119612368	119617120	0.31	[{'connected_gene': 'ADPRH', 'score': 24.93}, {'connected_gene': 'POPDC2', 'score': 11.88}, {'connected_gene': 'CD80', 'score': 11.4}, {'connected_gene': 'COX17', 'score': 7.53}, {'connected_gene': 'RPL10P7', 'score': 5.87}, {'connected_gene': 'GPR156', 'score': 5.68}, {'connected_gene': 'LOC105374062', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.37}, {'connected_gene': 'GC03M119637', 'score': 0.34}]
chr3	GH03I119554	119554952	119556982	1.33	[{'connected_gene': 'ADPRH', 'score': 14.2}, {'connected_gene': 'ARHGAP31', 'score': 10.86}, {'connected_gene': 'CD80', 'score': 10.74}, {'connected_gene': 'TIMMDC1', 'score': 5.58}, {'connected_gene': 'COX17', 'score': 1.67}, {'connected_gene': 'GC03M119536', 'score': 0.77}]
chr3	GH03I119592	119592989	119593156	0.47	[{'connected_gene': 'ADPRH', 'score': 15.47}, {'connected_gene': 'ARHGAP31', 'score': 12.02}, {'connected_gene': 'COX17', 'score': 2.39}, {'connected_gene': 'CD80', 'score': 2.26}, {'connected_gene': 'PLA1A', 'score': 0.77}, {'connected_gene': 'ENSG00000272967', 'score': 0.39}]
chr3	GH03I119585	119585293	119586600	0.85	[{'connected_gene': 'ADPRH', 'score': 18.71}, {'connected_gene': 'ARHGAP31', 'score': 11.16}, {'connected_gene': 'COX17', 'score': 2.26}, {'connected_gene': 'CD80', 'score': 1.53}, {'connected_gene': 'ENSG00000272967', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.39}]
chr3	GH03I120143	120143820	120149742	1.5	[{'connected_gene': 'LOC105374065', 'score': 550.77}, {'connected_gene': 'GSK3B', 'score': 9.24}, {'connected_gene': 'LOC100130701', 'score': 6.78}, {'connected_gene': 'GPR156', 'score': 5.01}, {'connected_gene': 'COX17', 'score': 1.76}, {'connected_gene': 'PIR46565', 'score': 0.77}]
chr3	GH03I119667	119667144	119667665	0.38	[{'connected_gene': 'LOC105374063', 'score': 550.77}, {'connected_gene': 'COX17', 'score': 0.39}]
chr3	GH03I119668	119668464	119669024	0.31	[{'connected_gene': 'LOC105374063', 'score': 0.77}, {'connected_gene': 'COX17', 'score': 0.44}]
chr3	GH03I119321	119321625	119324330	1.98	[{'connected_gene': 'ARHGAP31-AS1', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 15.12}, {'connected_gene': 'ADPRH', 'score': 12.8}, {'connected_gene': 'B4GALT4', 'score': 4.59}, {'connected_gene': 'COX17', 'score': 2.14}, {'connected_gene': 'CD80', 'score': 1.61}, {'connected_gene': 'GC03M119342', 'score': 0.37}, {'connected_gene': 'RNU6-1127P', 'score': 0.37}]
chr3	GH03I119320	119320760	119321200	1.03	[{'connected_gene': 'ARHGAP31-AS1', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 9.11}, {'connected_gene': 'ADPRH', 'score': 6.96}, {'connected_gene': 'COX17', 'score': 1.98}, {'connected_gene': 'CD80', 'score': 1.26}, {'connected_gene': 'PIR60663', 'score': 0.34}]
chr3	GH03I119675	119675594	119678214	2.23	[{'connected_gene': 'COX17', 'score': 565.02}, {'connected_gene': 'MAATS1', 'score': 20.23}, {'connected_gene': 'POPDC2', 'score': 12.21}, {'connected_gene': 'CD80', 'score': 11.0}, {'connected_gene': 'LOC105374063', 'score': 0.39}]
chr3	GH03I119654	119653180	119653499	0.2	[{'connected_gene': 'COX17', 'score': 11.81}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3	GH03I119653	119653655	119655195	0.2	[{'connected_gene': 'COX17', 'score': 18.29}, {'connected_gene': 'ADPRH', 'score': 11.61}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'PLA1A', 'score': 4.46}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3	GH03I118962	118962274	118974094	0.52	[{'connected_gene': 'IGSF11-AS1', 'score': 12.31}, {'connected_gene': 'IGSF11', 'score': 5.62}, {'connected_gene': 'COX17', 'score': 4.64}, {'connected_gene': 'GC03M119012', 'score': 0.23}]