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
ENST00000503391	[[84182688, 84183077], [84183741, 84183808], [84188738, 84188927], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84205948]]	[[84188913, 84188927], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84205917]]
ENST00000503915	[[84184976, 84185516], [84188242, 84188361], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200211]]	[[84188325, 84188361], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200211]]
ENST00000311469	[[84184976, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84206067]]	[[84185351, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84206067]]
ENST00000439031	[[84184978, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84206067]]	[[84185351, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84205956]]
ENST00000311461	[[84187849, 84188361], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84205918]]	[[84188325, 84188361], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267]]
ENST00000514935	[[84194695, 84194770], [84200100, 84200267], [84202584, 84202749]]	None
NM_015697	[[84184976, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84206067]]	[[84185351, 84185516], [84188738, 84188927], [84191012, 84191146], [84193239, 84193325], [84194648, 84194770], [84200100, 84200267], [84205664, 84206067]]

Promoter

Chrom	Start	End	Description
chr4	84205905	84205959	CAGE_peak_1_at_COQ2_5end
chr4	84206281	84206294	CAGE_peak_2_at_COQ2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I083556	83556002	83557138	0.99	[{'connected_gene': 'GPAT3', 'score': 17.3}, {'connected_gene': 'HPSE', 'score': 6.73}, {'connected_gene': 'COQ2', 'score': 1.93}, {'connected_gene': 'HELQ', 'score': 1.75}, {'connected_gene': 'PLAC8', 'score': 1.39}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083569	83569372	83571000	1	[{'connected_gene': 'GPAT3', 'score': 17.46}, {'connected_gene': 'HPSE', 'score': 9.08}, {'connected_gene': 'COQ2', 'score': 2.9}, {'connected_gene': 'HELQ', 'score': 2.13}, {'connected_gene': 'GC04M083639', 'score': 0.2}, {'connected_gene': 'ENSG00000201633', 'score': 0.2}]
chr4	GH04I083547	83547602	83549430	1.64	[{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 9.16}, {'connected_gene': 'GPAT3', 'score': 6.51}, {'connected_gene': 'MRPS18C', 'score': 5.06}, {'connected_gene': 'PLAC8', 'score': 3.8}, {'connected_gene': 'COQ2', 'score': 2.17}, {'connected_gene': 'HELQ', 'score': 1.94}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4	GH04I083551	83551865	83553737	1.46	[{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 8.45}, {'connected_gene': 'MRPS18C', 'score': 5.48}, {'connected_gene': 'PLAC8', 'score': 2.74}, {'connected_gene': 'COQ2', 'score': 2.18}, {'connected_gene': 'HELQ', 'score': 1.9}, {'connected_gene': 'GPAT3', 'score': 0.37}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083170	83170734	83172100	1.41	[{'connected_gene': 'PLAC8', 'score': 34.18}, {'connected_gene': 'THAP9', 'score': 9.91}, {'connected_gene': 'MRPS18C', 'score': 7.14}, {'connected_gene': 'HPSE', 'score': 4.03}, {'connected_gene': 'COQ2', 'score': 2.48}, {'connected_gene': 'GC04M083225', 'score': 0.23}]
chr4	GH04I083190	83190437	83190825	0.27	[{'connected_gene': 'PLAC8', 'score': 15.74}, {'connected_gene': 'THAP9', 'score': 2.37}, {'connected_gene': 'COQ2', 'score': 1.52}, {'connected_gene': 'HPSE', 'score': 1.35}, {'connected_gene': 'GC04M083225', 'score': 0.28}]
chr4	GH04I083180	83180146	83181094	1.36	[{'connected_gene': 'PLAC8', 'score': 29.71}, {'connected_gene': 'THAP9', 'score': 12.12}, {'connected_gene': 'HPSE', 'score': 4.84}, {'connected_gene': 'COQ2', 'score': 2.79}, {'connected_gene': 'LIN54', 'score': 1.19}, {'connected_gene': 'GC04M083225', 'score': 0.25}]
chr4	GH04I083152	83152388	83153858	1.07	[{'connected_gene': 'PLAC8', 'score': 19.65}, {'connected_gene': 'THAP9', 'score': 18.68}, {'connected_gene': 'HPSE', 'score': 7.07}, {'connected_gene': 'COQ2', 'score': 2.91}, {'connected_gene': 'LIN54', 'score': 1.21}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4	GH04I083149	83149154	83151676	0.96	[{'connected_gene': 'PLAC8', 'score': 23.39}, {'connected_gene': 'THAP9', 'score': 18.83}, {'connected_gene': 'HPSE', 'score': 6.18}, {'connected_gene': 'COQ2', 'score': 3.36}, {'connected_gene': 'LIN54', 'score': 1.32}, {'connected_gene': 'GC04M083225', 'score': 0.18}]
chr4	GH04I083197	83197002	83199200	1.31	[{'connected_gene': 'PLAC8', 'score': 41.14}, {'connected_gene': 'THAP9', 'score': 4.52}, {'connected_gene': 'HPSE', 'score': 2.79}, {'connected_gene': 'COQ2', 'score': 2.05}, {'connected_gene': 'GC04M083225', 'score': 0.31}]
chr4	GH04I083151	83151749	83151955	0.51	[{'connected_gene': 'PLAC8', 'score': 17.68}, {'connected_gene': 'THAP9', 'score': 10.08}, {'connected_gene': 'HPSE', 'score': 4.42}, {'connected_gene': 'COQ2', 'score': 2.28}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4	GH04I083172	83172320	83177306	1.14	[{'connected_gene': 'PLAC8', 'score': 11.8}, {'connected_gene': 'MRPS18C', 'score': 4.44}, {'connected_gene': 'GC04M083225', 'score': 0.23}, {'connected_gene': 'COQ2', 'score': 0.14}]
chr4	GH04I083215	83215817	83220520	1.55	[{'connected_gene': 'PLAC8', 'score': 28.8}, {'connected_gene': 'LOC391674', 'score': 16.57}, {'connected_gene': 'THAP9', 'score': 6.34}, {'connected_gene': 'HPSE', 'score': 4.16}, {'connected_gene': 'COQ2', 'score': 3.26}, {'connected_gene': 'LIN54', 'score': 2.08}, {'connected_gene': 'HELQ', 'score': 1.66}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4	GH04I083267	83267002	83267966	0.97	[{'connected_gene': 'PLAC8', 'score': 6.61}, {'connected_gene': 'GC04P083274', 'score': 0.44}, {'connected_gene': 'PIR52005', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.37}]
chr4	GH04I083138	83138779	83140244	0.99	[{'connected_gene': 'PLAC8', 'score': 0.77}, {'connected_gene': 'GC04M083225', 'score': 0.17}, {'connected_gene': 'COQ2', 'score': 0.11}]
chr4	GH04I083280	83280359	83282717	1.07	[{'connected_gene': 'PLAC8', 'score': 9.41}, {'connected_gene': 'COQ2', 'score': 0.77}, {'connected_gene': 'GC04P083274', 'score': 0.44}]
chr4	GH04I083107	83107231	83116565	2.48	[{'connected_gene': 'PLAC8', 'score': 575.08}, {'connected_gene': 'HELQ', 'score': 3.53}, {'connected_gene': 'THAP9', 'score': 2.81}, {'connected_gene': 'LIN54', 'score': 2.17}, {'connected_gene': 'COQ2', 'score': 2.11}, {'connected_gene': 'HPSE', 'score': 1.47}, {'connected_gene': 'GC04P083063', 'score': 0.25}]
chr4	GH04I083207	83207020	83209726	1.36	[{'connected_gene': 'LOC391674', 'score': 8.18}, {'connected_gene': 'GC04M083225', 'score': 0.37}, {'connected_gene': 'PLAC8', 'score': 0.19}, {'connected_gene': 'COQ2', 'score': 0.18}]
chr4	GH04I083239	83239731	83241414	1.16	[{'connected_gene': 'LOC391674', 'score': 27.31}, {'connected_gene': 'PLAC8', 'score': 8.76}, {'connected_gene': 'HELQ', 'score': 4.47}, {'connected_gene': 'ENSG00000250677', 'score': 0.77}, {'connected_gene': 'ENSG00000250057', 'score': 0.44}, {'connected_gene': 'COQ2', 'score': 0.26}]
chr4	GH04I083254	83254875	83261297	1.35	[{'connected_gene': 'LOC391674', 'score': 19.07}, {'connected_gene': 'HNRNPD', 'score': 16.09}, {'connected_gene': 'HNRNPDL', 'score': 15.74}, {'connected_gene': 'SEC31A', 'score': 13.4}, {'connected_gene': 'HELQ', 'score': 12.71}, {'connected_gene': 'THAP9-AS1', 'score': 11.04}, {'connected_gene': 'ABRAXAS1', 'score': 9.73}, {'connected_gene': 'PLAC8', 'score': 7.67}, {'connected_gene': 'PIR52005', 'score': 0.44}, {'connected_gene': 'GC04P083274', 'score': 0.37}, {'connected_gene': 'COQ2', 'score': 0.31}]
chr4	GH04I083221	83221193	83222303	0.74	[{'connected_gene': 'LOC391674', 'score': 17.13}, {'connected_gene': 'GC04M083225', 'score': 0.77}, {'connected_gene': 'COQ2', 'score': 0.21}, {'connected_gene': 'PLAC8', 'score': 0.18}]
chr4	GH04I083229	83229475	83230600	0.4	[{'connected_gene': 'LOC391674', 'score': 20.69}, {'connected_gene': 'GC04M083232', 'score': 0.77}, {'connected_gene': 'GC04M083225', 'score': 0.77}, {'connected_gene': 'COQ2', 'score': 0.22}]
chr4	GH04I083283	83283547	83286361	1.72	[{'connected_gene': 'COQ2', 'score': 555.06}, {'connected_gene': 'HNRNPD', 'score': 29.74}, {'connected_gene': 'HELQ', 'score': 23.11}, {'connected_gene': 'PLAC8', 'score': 7.81}, {'connected_gene': 'GC04P083274', 'score': 0.39}]
chr4	GH04I083211	83211198	83213805	1.35	[{'connected_gene': 'HELQ', 'score': 6.38}, {'connected_gene': 'PLAC8', 'score': 3.37}, {'connected_gene': 'LIN54', 'score': 1.48}, {'connected_gene': 'GC04M083225', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.19}]
chr4	GH04I083315	83315919	83317741	0.84	[{'connected_gene': 'HPSE', 'score': 53.23}, {'connected_gene': 'THAP9', 'score': 21.43}, {'connected_gene': 'PLAC8', 'score': 6.84}, {'connected_gene': 'COQ2', 'score': 5.83}, {'connected_gene': 'HELQ', 'score': 2.03}, {'connected_gene': 'LIN54', 'score': 1.8}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4	GH04I083320	83320002	83321399	0.89	[{'connected_gene': 'HPSE', 'score': 53.9}, {'connected_gene': 'THAP9', 'score': 17.67}, {'connected_gene': 'PLAC8', 'score': 11.46}, {'connected_gene': 'COQ2', 'score': 5.94}, {'connected_gene': 'HELQ', 'score': 2.15}, {'connected_gene': 'LIN54', 'score': 1.97}, {'connected_gene': 'LOC105377313', 'score': 0.34}]
chr4	GH04I083316	83315522	83315612	0.23	[{'connected_gene': 'HPSE', 'score': 12.61}, {'connected_gene': 'THAP9', 'score': 11.41}, {'connected_gene': 'COQ2', 'score': 3.74}, {'connected_gene': 'PLAC8', 'score': 1.94}, {'connected_gene': 'HELQ', 'score': 1.84}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4	GH04I083022	83022401	83023401	0.45	[{'connected_gene': 'THAP9-AS1', 'score': 46.31}, {'connected_gene': 'THAP9', 'score': 11.9}, {'connected_gene': 'HPSE', 'score': 4.63}, {'connected_gene': 'PLAC8', 'score': 2.97}, {'connected_gene': 'COQ2', 'score': 1.72}, {'connected_gene': 'HELQ', 'score': 1.34}, {'connected_gene': 'LIN54', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.39}]
chr4	GH04I083369	83369832	83370600	0.72	[{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 11.19}, {'connected_gene': 'MRPS18C', 'score': 6.96}, {'connected_gene': 'HPSE', 'score': 5.81}, {'connected_gene': 'PLAC8', 'score': 5.79}, {'connected_gene': 'COQ2', 'score': 2.7}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4	GH04I083251	83251291	83251386	0.42	[{'connected_gene': 'PIR52005', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 23.9}, {'connected_gene': 'THAP9', 'score': 2.02}, {'connected_gene': 'PIR41904', 'score': 0.77}, {'connected_gene': 'COQ2', 'score': 0.29}]
chr4	GH04I083370	83370690	83370761	0.22	[{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 9.69}, {'connected_gene': 'THAP9', 'score': 9.02}, {'connected_gene': 'HPSE', 'score': 4.81}, {'connected_gene': 'COQ2', 'score': 2.89}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4	GH04I083230	83230740	83232877	1.4	[{'connected_gene': 'GC04M083232', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 30.42}, {'connected_gene': 'LOC391674', 'score': 19.27}, {'connected_gene': 'THAP9', 'score': 4.95}, {'connected_gene': 'HPSE', 'score': 2.36}, {'connected_gene': 'COQ2', 'score': 2.01}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4	GH04I083272	83272801	83273475	1.18	[{'connected_gene': 'GC04P083274', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 8.75}, {'connected_gene': 'LOC391674', 'score': 8.01}, {'connected_gene': 'COQ2', 'score': 0.39}, {'connected_gene': 'PIR52005', 'score': 0.34}]
chr4	GH04I083188	83188391	83190354	0.82	[{'connected_gene': 'GC04M083225', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.23}, {'connected_gene': 'COQ2', 'score': 0.15}]
chr4	GH04I083252	83252428	83253479	1.14	[{'connected_gene': 'PIR52005', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 8.39}, {'connected_gene': 'GC04P083274', 'score': 0.34}, {'connected_gene': 'COQ2', 'score': 0.29}]
chr4	GH04I083266	83266728	83266877	0.56	[{'connected_gene': 'GC04P083274', 'score': 0.44}, {'connected_gene': 'PIR52005', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.37}]
chr4	GH04I083275	83275339	83275448	0.25	[{'connected_gene': 'GC04P083274', 'score': 550.77}, {'connected_gene': 'COQ2', 'score': 0.44}]
chr4	GH04I083234	83234930	83235919	0.75	[{'connected_gene': 'ENSG00000250677', 'score': 550.77}, {'connected_gene': 'GC04M083232', 'score': 0.77}, {'connected_gene': 'ENSG00000250057', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.25}]