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
ENST00000322536	[[108535751, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108788745], [108810972, 108811657]]	[[108535880, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108788745], [108810972, 108811150]]
ENST00000526794	[[108535848, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108792970]]	[[108535880, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108788803]]
ENST00000534439	[[108638040, 108638131], [108638663, 108638728], [108709172, 108709292], [108712041, 108712203]]	None
ENST00000524979	[[108738974, 108739059], [108788599, 108788745], [108810972, 108811535]]	None
ENST00000534774	[[108535808, 108536066], [108544193, 108544254], [108546322, 108546521]]	None
ENST00000533198	[[108709082, 108709292], [108712041, 108712203]]	None
ENST00000530116	[[108731301, 108731684], [108788599, 108788651]]	None
ENST00000534221	[[108800245, 108800435], [108810972, 108811652]]	None
NM_004398	[[108535751, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108788745], [108810972, 108811657]]	[[108535880, 108536066], [108544193, 108544254], [108546322, 108546453], [108547811, 108547970], [108549041, 108549162], [108550097, 108550287], [108559662, 108559789], [108562602, 108562765], [108564242, 108564327], [108577465, 108577564], [108586605, 108586693], [108590523, 108590612], [108593723, 108594189], [108709172, 108709292], [108712041, 108712203], [108722879, 108722936], [108788599, 108788745], [108810972, 108811150]]

Promoter

Chrom	Start	End	Description
chr11	108535772	108535841	CAGE_peak_1_at_DDX10_5end
chr11	108535852	108535863	CAGE_peak_5_at_DDX10_5end
chr11	108535866	108535873	CAGE_peak_7_at_DDX10_5end
chr11	108800179	108800190	CAGE_peak_9_at_DDX10_5end
chr11	108800197	108800208	CAGE_peak_6_at_DDX10_5end
chr11	108800225	108800254	CAGE_peak_4_at_DDX10_5end
chr11	108800264	108800294	CAGE_peak_3_at_DDX10_5end
chr11	108800302	108800338	CAGE_peak_2_at_DDX10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I108008	108008195	108011310	2.28	[{'connected_gene': 'CUL5', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 23.73}, {'connected_gene': 'CWF19L2', 'score': 13.15}, {'connected_gene': 'ALKBH8', 'score': 12.38}, {'connected_gene': 'DDX10', 'score': 11.58}, {'connected_gene': 'KDELC2', 'score': 10.92}, {'connected_gene': 'ACAT1', 'score': 9.73}, {'connected_gene': 'GC11P108085', 'score': 0.18}]
chr11	GH11I108251	108251507	108253740	0.38	[{'connected_gene': 'ACAT1', 'score': 21.37}, {'connected_gene': 'NPAT', 'score': 11.72}, {'connected_gene': 'ATM', 'score': 11.7}, {'connected_gene': 'ENSG00000255467', 'score': 10.35}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.34}, {'connected_gene': 'ENSG00000206967', 'score': 0.34}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108246	108246344	108247842	0.56	[{'connected_gene': 'ACAT1', 'score': 21.51}, {'connected_gene': 'ATM', 'score': 11.75}, {'connected_gene': 'NPAT', 'score': 11.75}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'C11orf65', 'score': 4.88}, {'connected_gene': 'GC11M108232', 'score': 0.37}, {'connected_gene': 'ENSG00000206967', 'score': 0.37}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108248	108248398	108251331	0.31	[{'connected_gene': 'ACAT1', 'score': 20.4}, {'connected_gene': 'ATM', 'score': 11.72}, {'connected_gene': 'NPAT', 'score': 11.72}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.34}, {'connected_gene': 'ENSG00000206967', 'score': 0.34}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108245	108245028	108245813	0.38	[{'connected_gene': 'ACAT1', 'score': 14.51}, {'connected_gene': 'ATM', 'score': 11.75}, {'connected_gene': 'NPAT', 'score': 11.75}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.37}, {'connected_gene': 'ENSG00000206967', 'score': 0.37}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108233	108233068	108244142	1.25	[{'connected_gene': 'ACAT1', 'score': 28.0}, {'connected_gene': 'ATM', 'score': 10.79}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'C11orf65', 'score': 7.89}, {'connected_gene': 'KDELC2', 'score': 7.85}, {'connected_gene': 'GC11M108232', 'score': 0.44}, {'connected_gene': 'ENSG00000206967', 'score': 0.44}, {'connected_gene': 'PIR35860', 'score': 0.12}]
chr11	GH11I107999	107999915	108000064	0.62	[{'connected_gene': 'ACAT1', 'score': 10.66}, {'connected_gene': 'ENSG00000255467', 'score': 10.66}, {'connected_gene': 'DDX10', 'score': 10.5}, {'connected_gene': 'CUL5', 'score': 0.44}, {'connected_gene': 'RAB39A', 'score': 0.19}]
chr11	GH11I108148	108148694	108148843	0.54	[{'connected_gene': 'ACAT1', 'score': 11.73}, {'connected_gene': 'ENSG00000255467', 'score': 11.73}, {'connected_gene': 'DDX10', 'score': 10.59}, {'connected_gene': 'ATM', 'score': 0.19}]
chr11	GH11I108647	108647400	108648979	1.21	[{'connected_gene': 'ACAT1', 'score': 11.34}, {'connected_gene': 'ENSG00000255467', 'score': 11.34}, {'connected_gene': 'DDX10', 'score': 0.37}, {'connected_gene': 'EXPH5', 'score': 0.23}]
chr11	GH11I108120	108120560	108122852	2.03	[{'connected_gene': 'ACAT1', 'score': 581.21}, {'connected_gene': 'ENSG00000255467', 'score': 550.77}, {'connected_gene': 'DDX10', 'score': 11.06}, {'connected_gene': 'KDELC2', 'score': 4.69}, {'connected_gene': 'ATM', 'score': 0.15}]
chr11	GH11I107718	107718934	107723495	0.66	[{'connected_gene': 'SLN', 'score': 559.71}, {'connected_gene': 'DDX10', 'score': 12.95}, {'connected_gene': 'NPAT', 'score': 9.94}, {'connected_gene': 'SLC35F2', 'score': 5.79}, {'connected_gene': 'LOC203930', 'score': 0.37}]
chr11	GH11I107927	107927601	107929601	1.96	[{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]
chr11	GH11I107856	107856194	107860871	2.02	[{'connected_gene': 'SLC35F2', 'score': 564.88}, {'connected_gene': 'LOC105369477', 'score': 10.63}, {'connected_gene': 'DDX10', 'score': 9.69}, {'connected_gene': 'RPLP2P3', 'score': 0.25}, {'connected_gene': 'LOC203930', 'score': 0.13}]
chr11	GH11I108219	108219775	108231947	2.31	[{'connected_gene': 'NPAT', 'score': 602.81}, {'connected_gene': 'ATM', 'score': 562.27}, {'connected_gene': 'ACAT1', 'score': 22.97}, {'connected_gene': 'DDX10', 'score': 19.44}, {'connected_gene': 'KDELC2', 'score': 17.39}, {'connected_gene': 'CWF19L2', 'score': 11.55}, {'connected_gene': 'ENSG00000255467', 'score': 10.92}, {'connected_gene': 'C11orf65', 'score': 4.91}, {'connected_gene': 'GC11M108232', 'score': 0.77}, {'connected_gene': 'ENSG00000206967', 'score': 0.77}]
chr11	GH11I108136	108136197	108136943	0.59	[{'connected_gene': 'ATM', 'score': 10.92}, {'connected_gene': 'NPAT', 'score': 10.92}, {'connected_gene': 'DDX10', 'score': 9.69}, {'connected_gene': 'ENSG00000255467', 'score': 0.39}, {'connected_gene': 'ACAT1', 'score': 0.37}]
chr11	GH11I108857	108857400	108857779	1.03	[{'connected_gene': 'CYCSP29', 'score': 0.29}, {'connected_gene': 'ENSG00000203334', 'score': 0.15}, {'connected_gene': 'DDX10', 'score': 0.08}]
chr11	GH11I108852	108852874	108853023	0.31	[{'connected_gene': 'CYCSP29', 'score': 0.29}, {'connected_gene': 'ENSG00000203334', 'score': 0.15}, {'connected_gene': 'DDX10', 'score': 0.09}]
chr11	GH11I108788	108788524	108789103	0.74	[{'connected_gene': 'CYCSP29', 'score': 0.29}, {'connected_gene': 'ENSG00000254730', 'score': 0.22}, {'connected_gene': 'DDX10', 'score': 0.13}]
chr11	GH11I108886	108885114	108885343	0.54	[{'connected_gene': 'CYCSP29', 'score': 0.21}, {'connected_gene': 'ENSG00000203334', 'score': 0.19}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108890	108890854	108891003	0.2	[{'connected_gene': 'CYCSP29', 'score': 0.2}, {'connected_gene': 'ENSG00000203334', 'score': 0.2}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108620	108620594	108623038	0.8	[{'connected_gene': 'EXPH5', 'score': 0.31}, {'connected_gene': 'DDX10', 'score': 0.26}]
chr11	GH11I108624	108624175	108625241	0.54	[{'connected_gene': 'DDX10', 'score': 10.82}, {'connected_gene': 'ACAT1', 'score': 10.19}, {'connected_gene': 'ENSG00000255467', 'score': 10.19}, {'connected_gene': 'EXPH5', 'score': 0.29}]
chr11	GH11I108634	108634443	108636043	0.38	[{'connected_gene': 'DDX10', 'score': 11.27}, {'connected_gene': 'ACAT1', 'score': 9.99}, {'connected_gene': 'ENSG00000255467', 'score': 9.99}, {'connected_gene': 'EXPH5', 'score': 0.26}]
chr11	GH11I108905	108905520	108907953	1.07	[{'connected_gene': 'DDX10', 'score': 4.73}, {'connected_gene': 'ENSG00000203334', 'score': 0.23}, {'connected_gene': 'CYCSP29', 'score': 0.18}]
chr11	GH11I108853	108853531	108855169	0.96	[{'connected_gene': 'DDX10', 'score': 4.31}, {'connected_gene': 'CYCSP29', 'score': 0.29}, {'connected_gene': 'ENSG00000203334', 'score': 0.15}]
chr11	GH11I108885	108885684	108888131	1.12	[{'connected_gene': 'DDX10', 'score': 4.74}, {'connected_gene': 'CYCSP29', 'score': 0.21}, {'connected_gene': 'ENSG00000203334', 'score': 0.19}]
chr11	GH11I108869	108869134	108874961	1.39	[{'connected_gene': 'DDX10', 'score': 4.47}, {'connected_gene': 'CYCSP29', 'score': 0.25}, {'connected_gene': 'ENSG00000203334', 'score': 0.17}]
chr11	GH11I108894	108894944	108897745	0.94	[{'connected_gene': 'DDX10', 'score': 4.74}, {'connected_gene': 'ENSG00000203334', 'score': 0.21}, {'connected_gene': 'CYCSP29', 'score': 0.19}]
chr11	GH11I108864	108864809	108865963	0.2	[{'connected_gene': 'DDX10', 'score': 4.49}, {'connected_gene': 'CYCSP29', 'score': 0.26}, {'connected_gene': 'ENSG00000203334', 'score': 0.16}]
chr11	GH11I108938	108938197	108939069	0.49	[{'connected_gene': 'DDX10', 'score': 4.92}, {'connected_gene': 'ENSG00000203334', 'score': 0.37}, {'connected_gene': 'CYCSP29', 'score': 0.13}]
chr11	GH11I108733	108733154	108734521	1.04	[{'connected_gene': 'DDX10', 'score': 5.54}, {'connected_gene': 'ENSG00000254730', 'score': 0.77}, {'connected_gene': 'CYCSP29', 'score': 0.17}]
chr11	GH11I108608	108608887	108610808	0.6	[{'connected_gene': 'DDX10', 'score': 10.27}, {'connected_gene': 'EXPH5', 'score': 0.37}]
chr11	GH11I108606	108606214	108607223	0.63	[{'connected_gene': 'DDX10', 'score': 10.27}, {'connected_gene': 'EXPH5', 'score': 5.65}]
chr11	GH11I108549	108549934	108550063	0.2	[{'connected_gene': 'DDX10', 'score': 9.92}, {'connected_gene': 'EXPH5', 'score': 0.26}, {'connected_gene': 'GC11M108506', 'score': 0.26}]
chr11	GH11I108614	108614888	108618493	1.35	[{'connected_gene': 'DDX10', 'score': 11.09}, {'connected_gene': 'KDELC2', 'score': 10.9}, {'connected_gene': 'LOC203930', 'score': 4.35}, {'connected_gene': 'EXPH5', 'score': 1.97}]
chr11	GH11I108712	108712758	108714473	0.64	[{'connected_gene': 'DDX10', 'score': 5.59}, {'connected_gene': 'ENSG00000254730', 'score': 0.37}, {'connected_gene': 'RPS2P39', 'score': 0.34}]
chr11	GH11I108663	108663976	108666236	1.98	[{'connected_gene': 'DDX10', 'score': 556.27}, {'connected_gene': 'RPS2P39', 'score': 0.31}]
chr11	GH11I108693	108693770	108694619	0.38	[{'connected_gene': 'DDX10', 'score': 5.67}, {'connected_gene': 'RPS2P39', 'score': 0.77}, {'connected_gene': 'ENSG00000254730', 'score': 0.28}]
chr11	GH11I108698	108698216	108699807	0.72	[{'connected_gene': 'DDX10', 'score': 5.63}, {'connected_gene': 'RPS2P39', 'score': 0.44}, {'connected_gene': 'ENSG00000254730', 'score': 0.29}]
chr11	GH11I108666	108666731	108666771	0.43	[{'connected_gene': 'DDX10', 'score': 550.77}, {'connected_gene': 'RPS2P39', 'score': 0.34}]
chr11	GH11I108465	108465922	108468650	2.03	[{'connected_gene': 'C11orf65', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 15.57}, {'connected_gene': 'KDELC2', 'score': 11.78}, {'connected_gene': 'DDX10', 'score': 10.06}, {'connected_gene': 'ACAT1', 'score': 9.33}, {'connected_gene': 'PIR35860', 'score': 0.16}]
chr11	GH11I108537	108537694	108539164	0.43	[{'connected_gene': 'KDELC2', 'score': 11.2}, {'connected_gene': 'DDX10', 'score': 10.2}, {'connected_gene': 'ATM', 'score': 6.79}, {'connected_gene': 'GC11M108506', 'score': 0.29}, {'connected_gene': 'EXPH5', 'score': 0.22}]
chr11	GH11I108551	108551023	108552990	1.07	[{'connected_gene': 'KDELC2', 'score': 31.3}, {'connected_gene': 'DDX10', 'score': 9.81}, {'connected_gene': 'EXPH5', 'score': 0.26}, {'connected_gene': 'GC11M108506', 'score': 0.26}]
chr11	GH11I108543	108543132	108544789	0.2	[{'connected_gene': 'KDELC2', 'score': 11.16}, {'connected_gene': 'DDX10', 'score': 10.19}, {'connected_gene': 'GC11M108506', 'score': 0.28}, {'connected_gene': 'EXPH5', 'score': 0.25}]
chr11	GH11I108496	108496074	108499645	2.09	[{'connected_gene': 'KDELC2', 'score': 576.82}, {'connected_gene': 'LOC101928561', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 71.98}, {'connected_gene': 'DDX10', 'score': 14.8}, {'connected_gene': 'ACAT1', 'score': 11.57}, {'connected_gene': 'ATM', 'score': 11.56}, {'connected_gene': 'LOC105369479', 'score': 0.37}]
chr11	GH11I108198	108198547	108201216	1.27	[{'connected_gene': 'LOC105369477', 'score': 10.63}, {'connected_gene': 'DDX10', 'score': 9.71}, {'connected_gene': 'ATM', 'score': 0.34}, {'connected_gene': 'NPAT', 'score': 0.34}, {'connected_gene': 'ENSG00000255467', 'score': 0.18}]
chr11	GH11I108697	108697974	108698163	0.62	[{'connected_gene': 'RPS2P39', 'score': 0.44}, {'connected_gene': 'DDX10', 'score': 0.29}, {'connected_gene': 'ENSG00000254730', 'score': 0.29}]
chr11	GH11I108926	108926937	108927579	0.38	[{'connected_gene': 'ENSG00000203334', 'score': 0.29}, {'connected_gene': 'CYCSP29', 'score': 0.15}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108751	108751514	108751663	0.2	[{'connected_gene': 'ENSG00000254730', 'score': 0.34}, {'connected_gene': 'CYCSP29', 'score': 0.19}, {'connected_gene': 'DDX10', 'score': 0.17}]
chr11	GH11I108927	108927934	108930417	0.99	[{'connected_gene': 'ENSG00000203334', 'score': 0.31}, {'connected_gene': 'CYCSP29', 'score': 0.14}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108931	108931254	108931403	0.58	[{'connected_gene': 'ENSG00000203334', 'score': 0.31}, {'connected_gene': 'CYCSP29', 'score': 0.14}, {'connected_gene': 'DDX10', 'score': 0.06}]
chr11	GH11I108910	108910034	108910183	0.31	[{'connected_gene': 'ENSG00000203334', 'score': 0.25}, {'connected_gene': 'CYCSP29', 'score': 0.17}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108912	108912540	108914054	0.89	[{'connected_gene': 'ENSG00000203334', 'score': 0.26}, {'connected_gene': 'CYCSP29', 'score': 0.16}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108914	108914294	108914443	0.2	[{'connected_gene': 'ENSG00000203334', 'score': 0.26}, {'connected_gene': 'CYCSP29', 'score': 0.16}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108911	108910496	108910951	0.31	[{'connected_gene': 'ENSG00000203334', 'score': 0.25}, {'connected_gene': 'CYCSP29', 'score': 0.17}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108901	108901294	108901443	0.2	[{'connected_gene': 'ENSG00000203334', 'score': 0.22}, {'connected_gene': 'CYCSP29', 'score': 0.18}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108754	108754842	108755193	0.59	[{'connected_gene': 'ENSG00000254730', 'score': 0.34}, {'connected_gene': 'CYCSP29', 'score': 0.2}, {'connected_gene': 'DDX10', 'score': 0.17}]
chr11	GH11I108923	108923534	108923663	0.2	[{'connected_gene': 'ENSG00000203334', 'score': 0.29}, {'connected_gene': 'CYCSP29', 'score': 0.15}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108915	108915816	108917738	0.38	[{'connected_gene': 'ENSG00000203334', 'score': 0.26}, {'connected_gene': 'CYCSP29', 'score': 0.16}, {'connected_gene': 'DDX10', 'score': 0.07}]
chr11	GH11I108732	108732633	108732822	0.2	[{'connected_gene': 'ENSG00000254730', 'score': 0.77}, {'connected_gene': 'DDX10', 'score': 0.2}, {'connected_gene': 'CYCSP29', 'score': 0.17}]
chr11	GH11I108735	108735074	108735134	0.56	[{'connected_gene': 'ENSG00000254730', 'score': 0.44}, {'connected_gene': 'DDX10', 'score': 0.19}, {'connected_gene': 'CYCSP29', 'score': 0.17}]