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
ENST00000354567	[[77747735, 77748058], [77752625, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78025651]]	[[77747998, 77748058], [77752625, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78024355]]
ENST00000344720	[[77748286, 77749296], [77752627, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78025647]]	[[77752643, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78024355]]
ENST00000465146	[[77806089, 77806253], [77876665, 77876756], [77883323, 77883534]]	None
ENST00000530826	[[77837062, 77837152], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001570]]	None
ENST00000527263	[[77883377, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984269], [78001602, 78001723], [78024286, 78024414]]	[[77883377, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984269], [78001602, 78001658]]
ENST00000317704	[[77747742, 77748058], [77752625, 77752812], [77759549, 77759645], [77763243, 77763413], [77763518, 77763632], [77779479, 77780745]]	None
ENST00000478407	[[77748763, 77748868], [77752625, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763541]]	[[77752643, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763541]]
ENST00000469394	[[77759214, 77759645], [77763243, 77763375]]	None
ENST00000466114	[[77759477, 77759645], [77763243, 77763413], [77763518, 77763710]]	None
ENST00000524494	[[77763539, 77763632], [77806061, 77806566]]	None
ENST00000478255	[[77997791, 77998025], [78001531, 78001723], [78024286, 78024416]]	[[78001558, 78001723], [78024286, 78024355]]
ENST00000466393	[[78006180, 78006374], [78024286, 78024416]]	None
ENST00000531672	[[78022929, 78023015], [78024286, 78024421]]	None
NM_174858	[[77747661, 77748058], [77752625, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78025654]]	[[77747998, 77748058], [77752625, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78024355]]
NM_012093	[[77748286, 77749296], [77752627, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78025654]]	[[77752643, 77752812], [77759477, 77759645], [77763243, 77763413], [77763518, 77763632], [77806061, 77806253], [77876665, 77876756], [77883323, 77883400], [77949001, 77949044], [77951992, 77952037], [77984248, 77984412], [77987511, 77987628], [78001531, 78001723], [78024286, 78024355]]

Promoter

Chrom	Start	End	Description
chr1	77747537	77747556	CAGE_peak_6_at_AK5_5end
chr1	77747561	77747568	CAGE_peak_9_at_AK5_5end
chr1	77747572	77747595	CAGE_peak_4_at_AK5_5end
chr1	77747606	77747611	CAGE_peak_11_at_AK5_5end
chr1	77747620	77747644	CAGE_peak_3_at_AK5_5end
chr1	77747656	77747766	CAGE_peak_1_at_AK5_5end
chr1	77747848	77747884	CAGE_peak_2_at_AK5_5end
chr1	77747904	77747907	CAGE_peak_14_at_AK5_5end
chr1	77747912	77747923	CAGE_peak_7_at_AK5_5end
chr1	77748756	77748797	CAGE_peak_8_at_AK5_5end
chr1	77759506	77759517	CAGE_peak_18_at_AK5_5end
chr1	77759591	77759607	CAGE_peak_10_at_AK5_5end
chr1	77836954	77836994	CAGE_peak_5_at_AK5_5end
chr1	77997785	77997808	CAGE_peak_12_at_AK5_5end
chr1	78005939	78005948	CAGE_peak_15_at_AK5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I077331	77331039	77336147	0.31	[{'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.91}, {'connected_gene': 'ENSG00000233099', 'score': 0.37}, {'connected_gene': 'AK5', 'score': 0.23}]
chr1	GH01I077329	77329151	77330125	0.2	[{'connected_gene': 'AK5', 'score': 11.66}, {'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.91}, {'connected_gene': 'ENSG00000233099', 'score': 0.37}]
chr1	GH01I077797	77797599	77798680	0.31	[{'connected_gene': 'AK5', 'score': 11.12}, {'connected_gene': 'LOC653631', 'score': 0.39}, {'connected_gene': 'RNA5SP21', 'score': 0.37}, {'connected_gene': 'MIGA1', 'score': 0.37}]
chr1	GH01I077429	77429415	77433832	0.66	[{'connected_gene': 'AK5', 'score': 31.45}, {'connected_gene': 'ENSG00000233099', 'score': 10.48}, {'connected_gene': 'GIPC2', 'score': 4.64}, {'connected_gene': 'GC01P077421', 'score': 0.39}, {'connected_gene': 'GC01P077502', 'score': 0.19}]
chr1	GH01I077425	77425658	77426005	0.33	[{'connected_gene': 'AK5', 'score': 10.61}, {'connected_gene': 'MIGA1', 'score': 3.46}, {'connected_gene': 'ZZZ3', 'score': 1.25}, {'connected_gene': 'GC01P077421', 'score': 0.44}, {'connected_gene': 'GC01P077502', 'score': 0.18}]
chr1	GH01I077556	77556025	77556371	0.34	[{'connected_gene': 'AK5', 'score': 4.57}, {'connected_gene': 'MIGA1', 'score': 1.88}, {'connected_gene': 'GC01P077577', 'score': 0.34}, {'connected_gene': 'GC01P077502', 'score': 0.23}]
chr1	GH01I077533	77533524	77541931	1.26	[{'connected_gene': 'AK5', 'score': 13.43}, {'connected_gene': 'ZZZ3', 'score': 10.74}, {'connected_gene': 'FUBP1', 'score': 5.46}, {'connected_gene': 'GC01P077502', 'score': 0.28}, {'connected_gene': 'GC01P077577', 'score': 0.28}]
chr1	GH01I077352	77352076	77353104	0.2	[{'connected_gene': 'AK5', 'score': 14.78}, {'connected_gene': 'PIGK', 'score': 10.02}, {'connected_gene': 'RNU7-8P', 'score': 9.34}, {'connected_gene': 'ENSG00000233099', 'score': 0.77}, {'connected_gene': 'GC01P077416', 'score': 0.21}]
chr1	GH01I077412	77412302	77413800	1.35	[{'connected_gene': 'AK5', 'score': 10.37}, {'connected_gene': 'PIGK', 'score': 4.36}, {'connected_gene': 'GC01P077416', 'score': 0.77}, {'connected_gene': 'ENSG00000233099', 'score': 0.21}]
chr1	GH01I077321	77321099	77323119	1.28	[{'connected_gene': 'AK5', 'score': 20.06}, {'connected_gene': 'ENSG00000233099', 'score': 12.77}, {'connected_gene': 'RNU7-8P', 'score': 9.94}, {'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.9}]
chr1	GH01I077504	77504539	77505752	0.66	[{'connected_gene': 'AK5', 'score': 15.68}, {'connected_gene': 'ENSG00000233099', 'score': 10.83}, {'connected_gene': 'RNU7-8P', 'score': 10.21}, {'connected_gene': 'GIPC2', 'score': 5.8}, {'connected_gene': 'GC01P077502', 'score': 0.77}, {'connected_gene': 'GC01P077577', 'score': 0.19}]
chr1	GH01I077385	77385293	77402355	0.46	[{'connected_gene': 'AK5', 'score': 15.71}, {'connected_gene': 'RNU7-8P', 'score': 11.59}, {'connected_gene': 'ENSG00000233099', 'score': 11.02}, {'connected_gene': 'MIGA1', 'score': 4.8}, {'connected_gene': 'GC01P077416', 'score': 0.34}]
chr1	GH01I077509	77509377	77516460	1.33	[{'connected_gene': 'AK5', 'score': 16.52}, {'connected_gene': 'ENSG00000233099', 'score': 10.82}, {'connected_gene': 'RNU7-8P', 'score': 10.67}, {'connected_gene': 'ZZZ3', 'score': 10.14}, {'connected_gene': 'GIPC2', 'score': 5.77}, {'connected_gene': 'FUBP1', 'score': 4.47}, {'connected_gene': 'GC01P077502', 'score': 0.39}, {'connected_gene': 'GC01P077577', 'score': 0.21}]
chr1	GH01I077564	77564506	77565063	0.4	[{'connected_gene': 'AK5', 'score': 10.77}, {'connected_gene': 'RNU7-8P', 'score': 10.01}, {'connected_gene': 'GC01P077577', 'score': 0.39}, {'connected_gene': 'GC01P077502', 'score': 0.21}, {'connected_gene': 'ZZZ3', 'score': 0.13}]
chr1	GH01I077353	77353255	77355445	0.2	[{'connected_gene': 'AK5', 'score': 15.52}, {'connected_gene': 'RNU7-8P', 'score': 10.53}, {'connected_gene': 'PIGK', 'score': 10.02}, {'connected_gene': 'ENSG00000233099', 'score': 0.77}, {'connected_gene': 'GC01P077416', 'score': 0.21}]
chr1	GH01I077359	77359848	77361790	0.2	[{'connected_gene': 'AK5', 'score': 10.85}, {'connected_gene': 'RNU7-8P', 'score': 10.55}, {'connected_gene': 'LOC100131495', 'score': 4.63}, {'connected_gene': 'LOC100422537', 'score': 4.17}, {'connected_gene': 'ENSG00000233099', 'score': 0.39}, {'connected_gene': 'GC01P077416', 'score': 0.22}]
chr1	GH01I077476	77476369	77476941	0.31	[{'connected_gene': 'AK5', 'score': 16.58}, {'connected_gene': 'ENSG00000233099', 'score': 11.5}, {'connected_gene': 'RNU7-8P', 'score': 11.24}, {'connected_gene': 'GC01P077502', 'score': 0.31}, {'connected_gene': 'GC01P077421', 'score': 0.22}]
chr1	GH01I077379	77379057	77379816	0.69	[{'connected_gene': 'AK5', 'score': 11.7}, {'connected_gene': 'ENSG00000233099', 'score': 11.55}, {'connected_gene': 'RNU7-8P', 'score': 10.56}, {'connected_gene': 'GC01P077416', 'score': 0.28}]
chr1	GH01I077369	77369803	77372201	0.83	[{'connected_gene': 'AK5', 'score': 17.38}, {'connected_gene': 'ENSG00000233099', 'score': 12.33}, {'connected_gene': 'RNU7-8P', 'score': 10.69}, {'connected_gene': 'GC01P077416', 'score': 0.25}]
chr1	GH01I077281	77281525	77283506	1.76	[{'connected_gene': 'AK5', 'score': 550.77}, {'connected_gene': 'LOC100131495', 'score': 4.7}, {'connected_gene': 'ENSG00000233099', 'score': 0.2}]
chr1	GH01I077374	77374772	77376591	0.38	[{'connected_gene': 'AK5', 'score': 17.18}, {'connected_gene': 'ENSG00000233099', 'score': 11.55}, {'connected_gene': 'GC01P077416', 'score': 0.26}]
chr1	GH01I077438	77438001	77438200	0.4	[{'connected_gene': 'AK5', 'score': 5.71}, {'connected_gene': 'GC01P077421', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.21}]
chr1	GH01I077544	77544986	77546940	0.65	[{'connected_gene': 'AK5', 'score': 9.41}, {'connected_gene': 'GC01P077577', 'score': 0.29}, {'connected_gene': 'GC01P077502', 'score': 0.26}]
chr1	GH01I077313	77313601	77314000	0.76	[{'connected_gene': 'AK5', 'score': 0.29}, {'connected_gene': 'ENSG00000233099', 'score': 0.28}]
chr1	GH01I077245	77245856	77245985	0.2	[{'connected_gene': 'AK5', 'score': 4.19}, {'connected_gene': 'GC01P077226', 'score': 0.37}]
chr1	GH01I077309	77309191	77309774	0.31	[{'connected_gene': 'AK5', 'score': 0.31}, {'connected_gene': 'ENSG00000233099', 'score': 0.26}]
chr1	GH01I077680	77680898	77684896	2.1	[{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1	GH01I077542	77542564	77544214	0.52	[{'connected_gene': 'ZZZ3', 'score': 21.8}, {'connected_gene': 'FUBP1', 'score': 15.31}, {'connected_gene': 'AK5', 'score': 12.83}, {'connected_gene': 'RPL17P6', 'score': 10.67}, {'connected_gene': 'GC01P077577', 'score': 0.29}, {'connected_gene': 'GC01P077502', 'score': 0.26}]
chr1	GH01I077591	77591001	77591600	0.59	[{'connected_gene': 'ZZZ3', 'score': 10.6}, {'connected_gene': 'AK5', 'score': 7.64}, {'connected_gene': 'GC01P077577', 'score': 0.39}, {'connected_gene': 'RNA5SP20', 'score': 0.34}]
chr1	GH01I077604	77604916	77606348	0.94	[{'connected_gene': 'ZZZ3', 'score': 11.44}, {'connected_gene': 'AK5', 'score': 7.76}, {'connected_gene': 'RNA5SP20', 'score': 0.44}, {'connected_gene': 'GC01P077577', 'score': 0.31}]
chr1	GH01I077529	77529611	77531013	0.2	[{'connected_gene': 'ZZZ3', 'score': 9.66}, {'connected_gene': 'RNU7-8P', 'score': 9.51}, {'connected_gene': 'AK5', 'score': 8.15}, {'connected_gene': 'GC01P077502', 'score': 0.31}, {'connected_gene': 'GC01P077577', 'score': 0.25}]
chr1	GH01I077756	77756998	77760552	2.03	[{'connected_gene': 'USP33', 'score': 550.77}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'FUBP1', 'score': 4.9}, {'connected_gene': 'ZZZ3', 'score': 0.18}]
chr1	GH01I077671	77671712	77673346	0.54	[{'connected_gene': 'USP33', 'score': 10.71}, {'connected_gene': 'AK5', 'score': 7.32}, {'connected_gene': 'GIPC2', 'score': 5.31}, {'connected_gene': 'ZZZ3', 'score': 0.39}, {'connected_gene': 'RN7SL370P', 'score': 0.31}]
chr1	GH01I077439	77438234	77439000	0.71	[{'connected_gene': 'PIGK', 'score': 10.28}, {'connected_gene': 'AK5', 'score': 5.77}, {'connected_gene': 'GC01P077421', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.21}]
chr1	GH01I077248	77248011	77248103	0.23	[{'connected_gene': 'PIGK', 'score': 11.03}, {'connected_gene': 'RNU7-8P', 'score': 9.54}, {'connected_gene': 'GC01P077226', 'score': 0.34}, {'connected_gene': 'AK5', 'score': 0.29}]
chr1	GH01I077473	77473246	77474633	0.54	[{'connected_gene': 'RNU7-8P', 'score': 10.79}, {'connected_gene': 'GC01P077502', 'score': 0.31}, {'connected_gene': 'GC01P077421', 'score': 0.23}, {'connected_gene': 'AK5', 'score': 0.08}]
chr1	GH01I077686	77686783	77688200	0.72	[{'connected_gene': 'ACTG1P21', 'score': 10.42}, {'connected_gene': 'RNA5SP21', 'score': 10.41}, {'connected_gene': 'MIGA1', 'score': 10.41}, {'connected_gene': 'AK5', 'score': 10.23}, {'connected_gene': 'GIPC2', 'score': 8.88}, {'connected_gene': 'ZZZ3', 'score': 0.77}, {'connected_gene': 'USP33', 'score': 0.19}]
chr1	GH01I077467	77467693	77468939	0.31	[{'connected_gene': 'ENSG00000233099', 'score': 11.08}, {'connected_gene': 'AK5', 'score': 11.04}, {'connected_gene': 'PIGK', 'score': 9.56}, {'connected_gene': 'GC01P077502', 'score': 0.29}, {'connected_gene': 'GC01P077421', 'score': 0.25}]
chr1	GH01I077318	77318420	77320594	0.2	[{'connected_gene': 'ENSG00000233099', 'score': 12.07}, {'connected_gene': 'AK5', 'score': 12.05}, {'connected_gene': 'RNU7-8P', 'score': 9.93}]
chr1	GH01I077246	77246096	77246245	0.2	[{'connected_gene': 'GC01P077226', 'score': 0.37}, {'connected_gene': 'AK5', 'score': 0.28}]
chr1	GH01I077423	77423418	77425160	0.38	[{'connected_gene': 'GC01P077421', 'score': 0.77}, {'connected_gene': 'GC01P077502', 'score': 0.18}, {'connected_gene': 'AK5', 'score': 0.11}]
chr1	GH01I077342	77342098	77343399	0.43	[{'connected_gene': 'ENSG00000233099', 'score': 0.44}, {'connected_gene': 'AK5', 'score': 0.21}]
chr1	GH01I077437	77437401	77437600	0.4	[{'connected_gene': 'GC01P077421', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.21}, {'connected_gene': 'AK5', 'score': 0.1}]
chr1	GH01I077435	77435076	77435225	0.2	[{'connected_gene': 'GC01P077421', 'score': 0.39}, {'connected_gene': 'GC01P077502', 'score': 0.2}, {'connected_gene': 'AK5', 'score': 0.1}]
chr1	GH01I077347	77347129	77348445	1.18	[{'connected_gene': 'ENSG00000233099', 'score': 550.77}, {'connected_gene': 'AK5', 'score': 0.2}]
chr1	GH01I077406	77406703	77407091	0.42	[{'connected_gene': 'GC01P077416', 'score': 0.44}, {'connected_gene': 'ENSG00000233099', 'score': 0.22}, {'connected_gene': 'AK5', 'score': 0.13}]
chr1	GH01I077323	77323177	77324519	0.2	[{'connected_gene': 'ENSG00000233099', 'score': 12.77}, {'connected_gene': 'AK5', 'score': 12.72}]
chr1	GH01I077271	77271710	77272391	0.31	[{'connected_gene': 'ENSG00000233099', 'score': 10.97}, {'connected_gene': 'PIGK', 'score': 10.51}, {'connected_gene': 'AK5', 'score': 0.44}, {'connected_gene': 'GC01P077226', 'score': 0.25}]
chr1	GH01I077349	77349783	77350549	0.87	[{'connected_gene': 'ENSG00000233099', 'score': 550.77}, {'connected_gene': 'LOC100131495', 'score': 4.78}, {'connected_gene': 'AK5', 'score': 0.2}, {'connected_gene': 'GC01P077416', 'score': 0.2}]