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
ENST00000395491	[[21187983, 21188281], [21199397, 21199522], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218525]]	[[21188232, 21188281], [21199397, 21199489]]
ENST00000342679	[[21187983, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218552]]	[[21188232, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]
ENST00000534743	[[21188021, 21188281], [21194748, 21195029]]	None
ENST00000529517	[[21188021, 21188281], [21191302, 21191403], [21198986, 21199081], [21199397, 21199455]]	[[21188232, 21188281], [21191302, 21191403], [21198986, 21199081], [21199397, 21199455]]
ENST00000483928	[[21188022, 21188281], [21198986, 21199081], [21199397, 21199522], [21201724, 21201756]]	[[21188232, 21188281], [21198986, 21199078]]
ENST00000479129	[[21188022, 21188281], [21198986, 21199081], [21201724, 21201791], [21202189, 21202238], [21203856, 21203960]]	[[21188232, 21188281], [21198986, 21199078]]
ENST00000583508	[[21188022, 21188281], [21201724, 21201791], [21202189, 21202238], [21203782, 21203970], [21204185, 21204229]]	None
ENST00000496046	[[21188133, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218540]]	[[21188232, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21207737, 21207743]]
ENST00000526076	[[21191347, 21191403], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546]]	[[21201762, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546]]
ENST00000361818	[[21191347, 21191403], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218525]]	[[21201762, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]
ENST00000316920	[[21191357, 21191403], [21199397, 21199522], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217622]]	[[21201762, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]
ENST00000477540	[[21214998, 21215593], [21216803, 21216849], [21217458, 21217744]]	None
ENST00000527123	[[21215453, 21215593], [21216803, 21217198]]	[[21215453, 21215593], [21216803, 21217074]]
NM_145109	[[21187967, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218552]]	[[21188232, 21188281], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]
NM_001316332	[[21187967, 21188281], [21199397, 21199522], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218552]]	[[21201762, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]
NM_002756	[[21191347, 21191403], [21201724, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21218552]]	[[21201762, 21201791], [21202189, 21202238], [21203856, 21203970], [21204185, 21204305], [21205454, 21205571], [21206494, 21206546], [21207737, 21207865], [21208362, 21208440], [21215453, 21215593], [21216803, 21216849], [21217458, 21217542]]

Promoter

Chrom	Start	End	Description
chr17	21187976	21187998	CAGE_peak_3_at_MAP2K3_5end
chr17	21188012	21188031	CAGE_peak_1_at_MAP2K3_5end
chr17	21188043	21188069	CAGE_peak_2_at_MAP2K3_5end
chr17	21188075	21188079	CAGE_peak_4_at_MAP2K3_5end
chr17	21191341	21191363	CAGE_peak_5_at_MAP2K3_5end
chr17	21194520	21194548	CAGE_peak_7_at_MAP2K3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I021131	21131227	21131500	0.77	[{'connected_gene': 'TMEM11', 'score': 11.81}, {'connected_gene': 'ENSG00000235530', 'score': 11.81}, {'connected_gene': 'USP22', 'score': 11.1}, {'connected_gene': 'NATD1', 'score': 4.38}, {'connected_gene': 'MAP2K3', 'score': 3.6}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17	GH17I021257	21257001	21257400	1.04	[{'connected_gene': 'MAP2K3', 'score': 12.55}, {'connected_gene': 'TMEM11', 'score': 12.33}, {'connected_gene': 'ENSG00000235530', 'score': 12.33}, {'connected_gene': 'DHRS7B', 'score': 11.29}, {'connected_gene': 'NATD1', 'score': 0.77}, {'connected_gene': 'EIF1P5', 'score': 0.77}]
chr17	GH17I021281	21281583	21290737	2.65	[{'connected_gene': 'MAP2K3', 'score': 569.75}, {'connected_gene': 'GC17P024329', 'score': 550.77}, {'connected_gene': 'KCNJ12', 'score': 14.8}, {'connected_gene': 'DHRS7B', 'score': 11.38}, {'connected_gene': 'NATD1', 'score': 4.56}]
chr17	GH17I021419	21419046	21420384	0.54	[{'connected_gene': 'MAP2K3', 'score': 10.92}, {'connected_gene': 'GC17P024738', 'score': 0.77}, {'connected_gene': 'PDLIM1P2', 'score': 0.31}, {'connected_gene': 'KCNJ12', 'score': 0.26}, {'connected_gene': 'GC17P024748', 'score': 0.22}]
chr17	GH17I021310	21310328	21312231	0.63	[{'connected_gene': 'MAP2K3', 'score': 4.91}, {'connected_gene': 'GC17M021294', 'score': 0.39}, {'connected_gene': 'PIR55402', 'score': 0.34}]
chr17	GH17I021411	21411029	21411315	1.49	[{'connected_gene': 'KCNJ12', 'score': 550.29}, {'connected_gene': 'MEIS3P2', 'score': 21.33}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021385', 'score': 0.77}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17	GH17I021126	21125712	21128478	2.46	[{'connected_gene': 'DHRS7B', 'score': 557.64}, {'connected_gene': 'TMEM11', 'score': 9.14}, {'connected_gene': 'MAP2K3', 'score': 5.41}, {'connected_gene': 'KCNJ18', 'score': 3.07}, {'connected_gene': 'NATD1', 'score': 1.4}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17	GH17I021278	21278188	21279400	0.96	[{'connected_gene': 'DHRS7B', 'score': 11.77}, {'connected_gene': 'MAP2K3', 'score': 0.44}, {'connected_gene': 'PIR52124', 'score': 0.44}]
chr17	GH17I021279	21279802	21280650	1.3	[{'connected_gene': 'NATD1', 'score': 4.47}, {'connected_gene': 'MAP2K3', 'score': 0.77}, {'connected_gene': 'PIR52124', 'score': 0.44}]
chr17	GH17I021322	21322601	21323800	1.2	[{'connected_gene': 'UPF3AP2', 'score': 11.0}, {'connected_gene': 'MEIS3P2', 'score': 10.94}, {'connected_gene': 'KCNJ12', 'score': 10.85}, {'connected_gene': 'MAP2K3', 'score': 10.79}, {'connected_gene': 'PIR55402', 'score': 0.39}, {'connected_gene': 'GC17M021294', 'score': 0.31}]
chr17	GH17I021260	21260601	21260800	0.4	[{'connected_gene': 'EIF1P5', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 11.9}, {'connected_gene': 'TMEM11', 'score': 11.72}, {'connected_gene': 'ENSG00000235530', 'score': 11.72}, {'connected_gene': 'DHRS7B', 'score': 11.54}, {'connected_gene': 'NATD1', 'score': 8.31}, {'connected_gene': 'PIR52124', 'score': 0.39}]
chr17	GH17I021413	21411975	21412677	0.79	[{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17	GH17I021412	21411709	21411858	0.82	[{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.25}]
chr17	GH17I021414	21413066	21413871	0.66	[{'connected_gene': 'GC17M021385', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 10.68}, {'connected_gene': 'GC17M021394', 'score': 0.37}, {'connected_gene': 'KCNJ12', 'score': 0.28}, {'connected_gene': 'GC17P024748', 'score': 0.23}]
chr17	GH17I021300	21300008	21300964	0.59	[{'connected_gene': 'GC17M021294', 'score': 0.77}, {'connected_gene': 'MAP2K3', 'score': 0.37}, {'connected_gene': 'PIR55402', 'score': 0.29}]
chr17	GH17I021273	21273589	21273678	0.43	[{'connected_gene': 'PIR52124', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 0.39}]
chr17	GH17I021297	21297783	21297879	0.2	[{'connected_gene': 'GC17M021294', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 0.39}, {'connected_gene': 'PIR55402', 'score': 0.28}]
chr17	GH17I021307	21307269	21307338	0.38	[{'connected_gene': 'GC17M021294', 'score': 0.39}, {'connected_gene': 'MAP2K3', 'score': 0.34}, {'connected_gene': 'PIR55402', 'score': 0.31}]
chr17	GH17I021304	21304966	21305959	0.43	[{'connected_gene': 'GC17M021294', 'score': 0.44}, {'connected_gene': 'MAP2K3', 'score': 0.34}, {'connected_gene': 'PIR55402', 'score': 0.29}]
chr17	GH17I021314	21314569	21314718	0.52	[{'connected_gene': 'GC17M021294', 'score': 0.37}, {'connected_gene': 'PIR55402', 'score': 0.34}, {'connected_gene': 'MAP2K3', 'score': 0.31}]
chr17	GH17I021293	21293504	21297386	0.99	[{'connected_gene': 'GC17M021294', 'score': 550.77}, {'connected_gene': 'GC17P024329', 'score': 0.44}, {'connected_gene': 'MAP2K3', 'score': 0.39}]
chr17	GH17I021291	21291318	21292566	0.2	[{'connected_gene': 'GC17P024329', 'score': 0.77}, {'connected_gene': 'GC17M021294', 'score': 0.77}, {'connected_gene': 'MAP2K3', 'score': 0.44}]
chr17	GH17I021274	21274941	21276800	1.67	[{'connected_gene': 'ENSG00000235530', 'score': 11.0}, {'connected_gene': 'KCNJ12', 'score': 10.35}, {'connected_gene': 'NATD1', 'score': 5.72}, {'connected_gene': 'MAP2K3', 'score': 2.71}, {'connected_gene': 'CCDC144NL', 'score': 1.93}, {'connected_gene': 'PIR52124', 'score': 0.77}]
chr17	GH17I021275	21273007	21273302	1.11	[{'connected_gene': 'PIR52124', 'score': 550.77}, {'connected_gene': 'NATD1', 'score': 8.07}, {'connected_gene': 'MAP2K3', 'score': 0.39}]