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
ENST00000478399	[[119298114, 119299483], [119300980, 119301314], [119305131, 119305492], [119306310, 119308792]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]
ENST00000481816	[[119298279, 119298698], [119299331, 119299483], [119300980, 119301314], [119305131, 119305210]]	[[119301016, 119301314], [119305131, 119305210]]
ENST00000471850	[[119298310, 119298698], [119305131, 119305492], [119306310, 119307060]]	None
ENST00000485496	[[119298374, 119298698], [119305131, 119305386]]	None
ENST00000478927	[[119298436, 119298698], [119300980, 119301314], [119305131, 119305492], [119306310, 119306854]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]
ENST00000357003	[[119298522, 119298698], [119299397, 119299483], [119300980, 119301314], [119305131, 119305492], [119306310, 119308792]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]
ENST00000465513	[[119300911, 119301314], [119305131, 119305492], [119306310, 119306911]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]
NM_001291950	[[119298279, 119298698], [119305131, 119305492], [119306310, 119308792]]	[[119305154, 119305492], [119306310, 119306725]]
NM_001291949	[[119298279, 119298698], [119300980, 119301314], [119305131, 119305492], [119306310, 119308792]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]
NM_001125	[[119298279, 119298698], [119299397, 119299483], [119300980, 119301314], [119305131, 119305492], [119306310, 119308792]]	[[119301016, 119301314], [119305131, 119305492], [119306310, 119306725]]

Promoter

Chrom	Start	End	Description
chr3	119298314	119298392	CAGE_peak_2_at_ADPRH_5end
chr3	119298397	119298409	CAGE_peak_5_at_ADPRH_5end
chr3	119298429	119298454	CAGE_peak_3_at_ADPRH_5end
chr3	119298575	119298644	CAGE_peak_1_at_ADPRH_5end
chr3	119298649	119298670	CAGE_peak_7_at_ADPRH_5end
chr3	119299336	119299359	CAGE_peak_12_at_ADPRH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119582	119582294	119582443	0.85	[{'connected_gene': 'CD80', 'score': 11.55}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'ENSG00000272967', 'score': 0.77}, {'connected_gene': 'ADPRH', 'score': 0.77}, {'connected_gene': 'PLA1A', 'score': 0.37}]
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	GH03I119557	119557641	119563425	2.14	[{'connected_gene': 'CD80', 'score': 575.92}, {'connected_gene': 'ADPRH', 'score': 20.7}, {'connected_gene': 'ARHGAP31', 'score': 6.57}, {'connected_gene': 'TMEM39A', 'score': 1.33}]
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	GH03I119651	119651738	119652872	0.51	[{'connected_gene': 'MAATS1', 'score': 19.31}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'RPL10P7', 'score': 5.18}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3	GH03I119646	119646750	119648400	0.6	[{'connected_gene': 'POPDC2', 'score': 21.21}, {'connected_gene': 'RPL10P7', 'score': 16.52}, {'connected_gene': 'ADPRH', 'score': 5.76}]
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	GH03I119423	119423450	119423733	0.23	[{'connected_gene': 'ARHGAP31', 'score': 6.7}, {'connected_gene': 'ADPRH', 'score': 3.16}, {'connected_gene': 'NR1I2', 'score': 1.31}, {'connected_gene': 'GC03P119428', 'score': 0.77}, {'connected_gene': 'RNU6-1127P', 'score': 0.18}, {'connected_gene': 'GC03M119342', 'score': 0.18}]
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	GH03I119497	119497379	119501067	2.05	[{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3	GH03I119652	119651068	119651376	0.61	[{'connected_gene': 'RPL10P7', 'score': 15.02}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 7.26}, {'connected_gene': 'POPDC2', 'score': 0.39}]
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	GH03I120566	120566657	120568999	1.15	[{'connected_gene': 'GSK3B', 'score': 4.3}, {'connected_gene': 'ADPRH', 'score': 4.03}, {'connected_gene': 'NDUFB4', 'score': 0.31}, {'connected_gene': 'RPL34P9', 'score': 0.23}]
chr3	GH03I119529	119529670	119530507	0.2	[{'connected_gene': 'CSRP2P1', 'score': 550.77}, {'connected_gene': 'ADPRH', 'score': 11.69}, {'connected_gene': 'POGLUT1', 'score': 8.8}, {'connected_gene': 'CD80', 'score': 0.31}, {'connected_gene': 'PIR33513', 'score': 0.29}, {'connected_gene': 'GC03P119501', 'score': 0.29}]
chr3	GH03I119649	119649987	119650358	0.75	[{'connected_gene': 'ADPRH', 'score': 17.06}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 1.72}, {'connected_gene': 'RPL10P7', 'score': 0.39}, {'connected_gene': 'POPDC2', 'score': 0.37}]
chr3	GH03I119578	119578638	119581053	2.07	[{'connected_gene': 'ADPRH', 'score': 571.02}, {'connected_gene': 'ENSG00000272967', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 17.36}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'PLA1A', 'score': 0.37}]
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	GH03I119627	119626334	119626547	0.44	[{'connected_gene': 'ADPRH', 'score': 19.09}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'CD80', 'score': 10.96}, {'connected_gene': 'MAATS1', 'score': 9.77}, {'connected_gene': 'PLA1A', 'score': 5.57}, {'connected_gene': 'ARHGAP31', 'score': 5.12}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'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	GH03I119587	119587801	119590039	0.89	[{'connected_gene': 'ADPRH', 'score': 6.85}, {'connected_gene': 'ENSG00000272967', 'score': 0.44}, {'connected_gene': 'PLA1A', 'score': 0.44}]
chr3	GH03I119602	119602628	119603275	0.56	[{'connected_gene': 'ADPRH', 'score': 7.43}, {'connected_gene': 'LOC105374062', 'score': 0.77}, {'connected_gene': 'PLA1A', 'score': 0.44}]
chr3	GH03I120467	120467938	120474121	1.15	[{'connected_gene': 'LRRC58', 'score': 9.81}, {'connected_gene': 'RPL34P9', 'score': 6.1}, {'connected_gene': 'ADPRH', 'score': 5.64}, {'connected_gene': 'ENSG00000240774', 'score': 0.39}, {'connected_gene': 'FSTL1', 'score': 0.37}]
chr3	GH03I120422	120422912	120428399	0.86	[{'connected_gene': 'FSTL1', 'score': 12.96}, {'connected_gene': 'GPR156', 'score': 12.14}, {'connected_gene': 'LOC100130701', 'score': 7.46}, {'connected_gene': 'LRRC58', 'score': 4.71}, {'connected_gene': 'GSK3B', 'score': 4.42}, {'connected_gene': 'ADPRH', 'score': 4.13}, {'connected_gene': 'MIR198', 'score': 0.31}]
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	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	GH03I119427	119427582	119427982	0.55	[{'connected_gene': 'GC03P119428', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 2.08}, {'connected_gene': 'ARHGAP31', 'score': 1.97}, {'connected_gene': 'ADPRH', 'score': 1.47}, {'connected_gene': 'RNU6-1127P', 'score': 0.17}, {'connected_gene': 'GC03M119342', 'score': 0.17}]
chr3	GH03I119300	119300401	119302318	1.13	[{'connected_gene': 'PIR60663', 'score': 550.77}, {'connected_gene': 'ARHGAP31', 'score': 14.65}, {'connected_gene': 'ARHGAP31-AS1', 'score': 11.18}, {'connected_gene': 'ADPRH', 'score': 6.12}, {'connected_gene': 'B4GALT4', 'score': 4.88}]