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
ENST00000514440	[[83821836, 83822035], [83822228, 83822326], [83824559, 83824726], [83825888, 83825977]]	[[83821955, 83822035], [83822228, 83822241]]
ENST00000514244	[[83821855, 83822035], [83825888, 83826094], [83827476, 83827780], [83828937, 83829068]]	[[83821955, 83822035], [83825888, 83826094], [83827476, 83827499]]
ENST00000302236	[[83821904, 83822035], [83825888, 83826084], [83827476, 83827780], [83828937, 83829088], [83838096, 83841122]]	[[83821955, 83822035], [83825888, 83826084], [83827476, 83827780], [83828937, 83829088], [83838096, 83840077]]
ENST00000509353	[[83821918, 83822035], [83825888, 83826094], [83827013, 83827079], [83827476, 83827780], [83828937, 83828944]]	[[83821955, 83822035], [83825888, 83826094], [83827013, 83827057]]
ENST00000505901	[[83821921, 83822035], [83825888, 83826084], [83827013, 83827079], [83827476, 83827780], [83828937, 83829088], [83838096, 83840613]]	[[83821955, 83822035], [83825888, 83826084], [83827013, 83827046]]
ENST00000506208	[[83827578, 83827780], [83828937, 83829088], [83831849, 83831964], [83838096, 83838193]]	[[83827578, 83827780], [83828937, 83829088], [83831849, 83831862]]
NM_024672	[[83821802, 83822035], [83825888, 83826084], [83827476, 83827780], [83828937, 83829088], [83838096, 83841122]]	[[83821955, 83822035], [83825888, 83826084], [83827476, 83827780], [83828937, 83829088], [83838096, 83840077]]
NM_001317776	[[83821802, 83822035], [83825888, 83826084], [83827013, 83827079], [83827476, 83827780], [83828937, 83829088], [83838096, 83841122]]	[[83827632, 83827780], [83828937, 83829088], [83838096, 83840077]]

Promoter

Chrom	Start	End	Description
chr4	83821835	83821896	CAGE_peak_1_at_THAP9_5end
chr4	83821967	83821998	CAGE_peak_3_at_THAP9_5end
chr4	83822199	83822239	CAGE_peak_2_at_THAP9_5end
chr4	83822246	83822277	CAGE_peak_5_at_THAP9_5end
chr4	83822294	83822306	CAGE_peak_8_at_THAP9_5end
chr4	83822343	83822355	CAGE_peak_9_at_THAP9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I082824	82824389	82826308	0.31	[{'connected_gene': 'THAP9', 'score': 7.52}, {'connected_gene': 'GC04M082828', 'score': 0.39}, {'connected_gene': 'SCD5', 'score': 0.31}, {'connected_gene': 'SEC31A', 'score': 0.18}]
chr4	GH04I082811	82811856	82812389	0.98	[{'connected_gene': 'MIR575', 'score': 10.88}, {'connected_gene': 'THAP9', 'score': 7.02}, {'connected_gene': 'SCD5', 'score': 0.39}, {'connected_gene': 'GC04M082828', 'score': 0.31}]
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	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	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	GH04I082905	82905368	82905597	0.79	[{'connected_gene': 'SEC31A', 'score': 0.77}, {'connected_gene': 'THAP9', 'score': 0.77}, {'connected_gene': 'GC04M082945', 'score': 0.28}, {'connected_gene': 'ENSG00000199530', 'score': 0.28}]
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	GH04I082833	82833443	82834818	0.69	[{'connected_gene': 'THAP9-AS1', 'score': 21.99}, {'connected_gene': 'THAP9', 'score': 7.48}, {'connected_gene': 'GC04M082828', 'score': 0.77}, {'connected_gene': 'SCD5', 'score': 0.28}, {'connected_gene': 'SEC31A', 'score': 0.2}]
chr4	GH04I082864	82864240	82867438	0.83	[{'connected_gene': 'THAP9-AS1', 'score': 21.84}, {'connected_gene': 'THAP9', 'score': 7.48}, {'connected_gene': 'GC04M082849', 'score': 0.44}, {'connected_gene': 'GC04P082899', 'score': 0.29}, {'connected_gene': 'SEC31A', 'score': 0.28}]
chr4	GH04I082894	82894004	82894700	0.63	[{'connected_gene': 'THAP9-AS1', 'score': 20.54}, {'connected_gene': 'THAP9', 'score': 7.64}, {'connected_gene': 'GC04P082899', 'score': 0.44}, {'connected_gene': 'SEC31A', 'score': 0.44}, {'connected_gene': 'GC04M082849', 'score': 0.29}]
chr4	GH04I082884	82884214	82887800	1.25	[{'connected_gene': 'THAP9-AS1', 'score': 16.89}, {'connected_gene': 'THAP9', 'score': 7.62}, {'connected_gene': 'GC04P082899', 'score': 0.39}, {'connected_gene': 'SEC31A', 'score': 0.37}, {'connected_gene': 'GC04M082849', 'score': 0.31}]
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	GH04I082898	82898105	82902721	2.3	[{'connected_gene': 'THAP9-AS1', 'score': 599.33}, {'connected_gene': 'GC04P082899', 'score': 550.77}, {'connected_gene': 'SEC31A', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 44.59}, {'connected_gene': 'HELQ', 'score': 31.24}, {'connected_gene': 'ABRAXAS1', 'score': 10.85}]
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}]