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
ENST00000461557	[[43637280, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638099], [43638390, 43638534], [43677120, 43677168], [43680987, 43681064], [43727512, 43727589], [43736576, 43736607]]	None
ENST00000431635	[[43629845, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638241]]	[[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638092]]
ENST00000236051	[[43629854, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637931]]	[[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637789]]
ENST00000463906	[[43630016, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636792]]	None
ENST00000491223	[[43636488, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638222]]	None
ENST00000472982	[[43636614, 43637322], [43637556, 43637640], [43637723, 43637939]]	None
ENST00000483082	[[43637111, 43637640], [43637723, 43637953]]	None
ENST00000466927	[[43647352, 43647455], [43680936, 43681064], [43727512, 43727581]]	None
ENST00000474566	[[43660354, 43660620], [43672016, 43672063], [43677120, 43677238], [43680936, 43681064], [43715889, 43716062]]	None
NM_006824	[[43629844, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637986]]	[[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637789]]
NM_001159936	[[43629844, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638241]]	[[43630113, 43630164], [43630313, 43630476], [43632496, 43632590], [43632830, 43632906], [43634609, 43634699], [43636426, 43636550], [43637149, 43637322], [43637556, 43637640], [43637723, 43637812], [43637950, 43638092]]

Promoter

Chrom	Start	End	Description
chr1	43637641	43637648	CAGE_peak_16_at_EBNA1BP2_5end
chr1	43637810	43637821	CAGE_peak_10_at_EBNA1BP2_5end
chr1	43637850	43637863	CAGE_peak_4_at_EBNA1BP2_5end
chr1	43637915	43637998	CAGE_peak_1_at_EBNA1BP2_5end
chr1	43638168	43638198	CAGE_peak_3_at_EBNA1BP2_5end
chr1	43716058	43716065	CAGE_peak_17_at_EBNA1BP2_5end
chr1	43736610	43736636	CAGE_peak_6_at_EBNA1BP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I043137	43137288	43138365	0.2	[{'connected_gene': 'FAM183A', 'score': 25.92}, {'connected_gene': 'CFAP57', 'score': 10.99}, {'connected_gene': 'EBNA1BP2', 'score': 10.82}, {'connected_gene': 'ZNF691', 'score': 8.85}, {'connected_gene': 'ENSG00000228192', 'score': 8.85}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
chr1	GH01I043220	43220348	43222345	0.7	[{'connected_gene': 'FAM183A', 'score': 18.17}, {'connected_gene': 'CFAP57', 'score': 17.42}, {'connected_gene': 'EBNA1BP2', 'score': 12.29}, {'connected_gene': 'SZT2', 'score': 10.94}, {'connected_gene': 'CDC20', 'score': 10.83}, {'connected_gene': 'LOC105378687', 'score': 10.83}, {'connected_gene': 'ELOVL1', 'score': 10.82}, {'connected_gene': 'MED8', 'score': 10.56}, {'connected_gene': 'ENSG00000229431', 'score': 10.56}, {'connected_gene': 'GC01P043207', 'score': 0.37}, {'connected_gene': 'LOC105378685', 'score': 0.31}]
chr1	GH01I043147	43147401	43148400	1.54	[{'connected_gene': 'FAM183A', 'score': 558.92}, {'connected_gene': 'CFAP57', 'score': 17.68}, {'connected_gene': 'EBNA1BP2', 'score': 11.37}, {'connected_gene': 'GC01P043162', 'score': 0.37}]
chr1	GH01I043120	43120306	43122252	1.14	[{'connected_gene': 'FAM183A', 'score': 24.83}, {'connected_gene': 'CFAP57', 'score': 11.09}, {'connected_gene': 'EBNA1BP2', 'score': 10.97}, {'connected_gene': 'ENSG00000277513', 'score': 0.37}]
chr1	GH01I043143	43143510	43144339	0.83	[{'connected_gene': 'FAM183A', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 6.81}, {'connected_gene': 'EBNA1BP2', 'score': 5.94}, {'connected_gene': 'GC01P043162', 'score': 0.37}]
chr1	GH01I043072	43072628	43074001	1.11	[{'connected_gene': 'FAM183A', 'score': 16.71}, {'connected_gene': 'RNU6-880P', 'score': 10.66}, {'connected_gene': 'CFAP57', 'score': 10.22}, {'connected_gene': 'ZNF691', 'score': 10.19}, {'connected_gene': 'ENSG00000228192', 'score': 10.19}, {'connected_gene': 'EBNA1BP2', 'score': 10.15}, {'connected_gene': 'RNU6-536P', 'score': 10.0}, {'connected_gene': 'ENSG00000236180', 'score': 10.0}, {'connected_gene': 'SZT2', 'score': 9.72}, {'connected_gene': 'GC01P043068', 'score': 0.44}, {'connected_gene': 'ENSG00000277513', 'score': 0.29}]
chr1	GH01I042971	42971544	42972737	0.92	[{'connected_gene': 'SLC2A1-AS1', 'score': 43.21}, {'connected_gene': 'CFAP57', 'score': 9.68}, {'connected_gene': 'EBNA1BP2', 'score': 9.66}, {'connected_gene': 'ENSG00000283973', 'score': 0.39}, {'connected_gene': 'RNU6-880P', 'score': 0.37}]
chr1	GH01I043281	43281708	43283505	0.86	[{'connected_gene': 'MPL', 'score': 11.3}, {'connected_gene': 'ENSG00000229431', 'score': 10.75}, {'connected_gene': 'MED8', 'score': 10.74}, {'connected_gene': 'SZT2', 'score': 10.38}, {'connected_gene': 'C1orf210', 'score': 7.84}, {'connected_gene': 'CFAP57', 'score': 7.22}, {'connected_gene': 'CCDC24', 'score': 4.98}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1	GH01I043283	43283703	43286890	1.66	[{'connected_gene': 'C1orf210', 'score': 558.77}, {'connected_gene': 'CFAP57', 'score': 20.97}, {'connected_gene': 'SZT2', 'score': 16.64}, {'connected_gene': 'MPL', 'score': 11.3}, {'connected_gene': 'ENSG00000229431', 'score': 10.75}, {'connected_gene': 'MED8', 'score': 10.75}, {'connected_gene': 'CDC20', 'score': 10.7}, {'connected_gene': 'LOC105378687', 'score': 10.7}, {'connected_gene': 'ELOVL1', 'score': 10.69}, {'connected_gene': 'TMEM125', 'score': 9.32}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1	GH01I043279	43279037	43279984	0.2	[{'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'EBNA1BP2', 'score': 0.44}]
chr1	GH01I043266	43266883	43268495	0.66	[{'connected_gene': 'CFAP57', 'score': 14.21}, {'connected_gene': 'TIE1', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 9.52}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1	GH01I043229	43229527	43230693	0.38	[{'connected_gene': 'CFAP57', 'score': 22.97}, {'connected_gene': 'ATP6V0B', 'score': 4.3}, {'connected_gene': 'LOC105378685', 'score': 0.34}, {'connected_gene': 'GC01P043207', 'score': 0.34}, {'connected_gene': 'EBNA1BP2', 'score': 0.26}]
chr1	GH01I043231	43231795	43233239	0.76	[{'connected_gene': 'CFAP57', 'score': 57.84}, {'connected_gene': 'FAM183A', 'score': 7.19}, {'connected_gene': 'ATP6V0B', 'score': 5.31}, {'connected_gene': 'LOC105378685', 'score': 0.37}, {'connected_gene': 'GC01P043207', 'score': 0.31}, {'connected_gene': 'EBNA1BP2', 'score': 0.28}]
chr1	GH01I043227	43227201	43227601	1	[{'connected_gene': 'CFAP57', 'score': 11.27}, {'connected_gene': 'FAM183A', 'score': 4.3}, {'connected_gene': 'LOC105378685', 'score': 0.34}, {'connected_gene': 'GC01P043207', 'score': 0.34}, {'connected_gene': 'EBNA1BP2', 'score': 0.26}]
chr1	GH01I043198	43198734	43200295	0.76	[{'connected_gene': 'CFAP57', 'score': 7.05}, {'connected_gene': 'DPH2', 'score': 4.44}, {'connected_gene': 'RNA5SP46', 'score': 0.77}, {'connected_gene': 'GC01P043207', 'score': 0.44}, {'connected_gene': 'LOC105378685', 'score': 0.23}, {'connected_gene': 'EBNA1BP2', 'score': 0.19}]
chr1	GH01I043255	43255853	43257820	0.63	[{'connected_gene': 'CFAP57', 'score': 11.01}, {'connected_gene': 'C1orf210', 'score': 8.53}, {'connected_gene': 'LOC101929592', 'score': 4.28}, {'connected_gene': 'LOC105378685', 'score': 0.44}, {'connected_gene': 'TMEM125', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.39}]
chr1	GH01I043273	43273656	43275115	1.12	[{'connected_gene': 'CFAP57', 'score': 10.74}, {'connected_gene': 'TMEM125', 'score': 0.77}, {'connected_gene': 'EBNA1BP2', 'score': 0.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1	GH01I043171	43171200	43173000	2.02	[{'connected_gene': 'CFAP57', 'score': 558.65}, {'connected_gene': 'MIR6733', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.15}, {'connected_gene': 'FAM183A', 'score': 10.74}]
chr1	GH01I043240	43239051	43240118	0.64	[{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'MPL', 'score': 11.13}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'C1orf210', 'score': 8.36}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1	GH01I043239	43238400	43238600	0.8	[{'connected_gene': 'TMEM125', 'score': 12.1}, {'connected_gene': 'ELOVL1', 'score': 11.86}, {'connected_gene': 'CDC20', 'score': 11.86}, {'connected_gene': 'LOC105378687', 'score': 11.86}, {'connected_gene': 'ENSG00000229431', 'score': 11.12}, {'connected_gene': 'MED8', 'score': 11.11}, {'connected_gene': 'SZT2', 'score': 11.07}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'HYI', 'score': 11.03}, {'connected_gene': 'SZT2-AS1', 'score': 11.03}, {'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1	GH01I043272	43272227	43272286	0.81	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'C1orf210', 'score': 0.39}]
chr1	GH01I043270	43269642	43271715	1.94	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 10.92}, {'connected_gene': 'C1orf210', 'score': 8.05}, {'connected_gene': 'KDM4A-AS1', 'score': 6.1}]
chr1	GH01I043269	43269115	43269405	0.31	[{'connected_gene': 'TMEM125', 'score': 550.77}, {'connected_gene': 'EBNA1BP2', 'score': 550.77}, {'connected_gene': 'LOC105378685', 'score': 0.37}]
chr1	GH01I043276	43276305	43277603	0.91	[{'connected_gene': 'TMEM125', 'score': 9.82}, {'connected_gene': 'LOC101929592', 'score': 4.83}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'EBNA1BP2', 'score': 0.44}]
chr1	GH01I043371	43371380	43374705	1.35	[{'connected_gene': 'MED8', 'score': 47.98}, {'connected_gene': 'MPL', 'score': 11.2}, {'connected_gene': 'EBNA1BP2', 'score': 10.74}, {'connected_gene': 'CFAP57', 'score': 10.29}, {'connected_gene': 'ELOVL1', 'score': 0.77}, {'connected_gene': 'SZT2', 'score': 0.39}]
chr1	GH01I043471	43471188	43477944	1.26	[{'connected_gene': 'MED8', 'score': 32.58}, {'connected_gene': 'SZT2', 'score': 21.19}, {'connected_gene': 'PTPRF', 'score': 11.63}, {'connected_gene': 'ELOVL1', 'score': 10.56}, {'connected_gene': 'CDC20', 'score': 10.54}, {'connected_gene': 'LOC105378687', 'score': 10.54}, {'connected_gene': 'MPL', 'score': 10.47}, {'connected_gene': 'ST3GAL3', 'score': 9.9}, {'connected_gene': 'EBNA1BP2', 'score': 9.82}, {'connected_gene': 'CFAP57', 'score': 9.79}, {'connected_gene': 'LOC101929592', 'score': 9.78}, {'connected_gene': 'FAM183A', 'score': 9.49}, {'connected_gene': 'GC01M043427', 'score': 0.77}, {'connected_gene': 'HYI', 'score': 0.37}]
chr1	GH01I043314	43314606	43320128	0.56	[{'connected_gene': 'MED8', 'score': 53.73}, {'connected_gene': 'SZT2', 'score': 15.85}, {'connected_gene': 'MPL', 'score': 11.83}, {'connected_gene': 'EBNA1BP2', 'score': 11.13}, {'connected_gene': 'CDC20', 'score': 11.01}, {'connected_gene': 'LOC105378687', 'score': 11.01}, {'connected_gene': 'ELOVL1', 'score': 10.98}, {'connected_gene': 'PTPRF', 'score': 10.59}, {'connected_gene': 'ENSG00000229431', 'score': 10.12}, {'connected_gene': 'CFAP57', 'score': 9.93}, {'connected_gene': 'PIR52122', 'score': 0.39}, {'connected_gene': 'TIE1', 'score': 0.37}]
chr1	GH01I043404	43404870	43405948	0.91	[{'connected_gene': 'MED8', 'score': 49.82}, {'connected_gene': 'SZT2', 'score': 31.81}, {'connected_gene': 'PPIH', 'score': 22.47}, {'connected_gene': 'HYI', 'score': 16.23}, {'connected_gene': 'P3H1', 'score': 12.69}, {'connected_gene': 'ENSG00000229431', 'score': 11.52}, {'connected_gene': 'ELOVL1', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.24}, {'connected_gene': 'LOC105378687', 'score': 11.24}, {'connected_gene': 'KDM4A-AS1', 'score': 11.18}, {'connected_gene': 'SZT2-AS1', 'score': 11.05}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'KDM4A', 'score': 10.07}, {'connected_gene': 'EBNA1BP2', 'score': 9.96}, {'connected_gene': 'CFAP57', 'score': 9.91}, {'connected_gene': 'GC01M043435', 'score': 0.29}]
chr1	GH01I043293	43293181	43296964	1.47	[{'connected_gene': 'MED8', 'score': 38.58}, {'connected_gene': 'EBNA1BP2', 'score': 12.19}, {'connected_gene': 'MPL', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.14}, {'connected_gene': 'LOC105378687', 'score': 11.14}, {'connected_gene': 'ELOVL1', 'score': 11.12}, {'connected_gene': 'ENSG00000229431', 'score': 10.03}, {'connected_gene': 'SZT2', 'score': 10.02}, {'connected_gene': 'FAM183A', 'score': 9.36}, {'connected_gene': 'ATP6V0B', 'score': 7.1}, {'connected_gene': 'TIE1', 'score': 2.01}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1	GH01I043152	43152488	43153406	0.52	[{'connected_gene': 'EBNA1BP2', 'score': 17.89}, {'connected_gene': 'ENSG00000229431', 'score': 9.49}, {'connected_gene': 'MED8', 'score': 9.48}, {'connected_gene': 'FAM183A', 'score': 6.0}, {'connected_gene': 'GC01P043162', 'score': 0.44}]
chr1	GH01I043291	43291853	43292559	0.38	[{'connected_gene': 'EBNA1BP2', 'score': 12.19}, {'connected_gene': 'MED8', 'score': 11.13}, {'connected_gene': 'MPL', 'score': 11.01}, {'connected_gene': 'CDC20', 'score': 10.97}, {'connected_gene': 'LOC105378687', 'score': 10.97}, {'connected_gene': 'ELOVL1', 'score': 10.95}, {'connected_gene': 'SZT2', 'score': 9.98}, {'connected_gene': 'ENSG00000229431', 'score': 9.93}, {'connected_gene': 'CFAP57', 'score': 8.79}, {'connected_gene': 'C1orf210', 'score': 0.44}, {'connected_gene': 'GC01P043301', 'score': 0.44}]
chr1	GH01I043253	43253841	43254673	0.31	[{'connected_gene': 'LOC105378685', 'score': 0.77}, {'connected_gene': 'TMEM125', 'score': 0.37}, {'connected_gene': 'EBNA1BP2', 'score': 0.37}, {'connected_gene': 'CFAP57', 'score': 0.18}]
chr1	GH01I043238	43238170	43238319	0.83	[{'connected_gene': 'LOC105378685', 'score': 0.39}, {'connected_gene': 'GC01P043207', 'score': 0.29}, {'connected_gene': 'EBNA1BP2', 'score': 0.29}, {'connected_gene': 'CFAP57', 'score': 0.2}]
chr1	GH01I043200	43200749	43200772	0.34	[{'connected_gene': 'RNA5SP46', 'score': 0.77}, {'connected_gene': 'GC01P043207', 'score': 0.44}, {'connected_gene': 'CFAP57', 'score': 0.31}, {'connected_gene': 'LOC105378685', 'score': 0.25}, {'connected_gene': 'EBNA1BP2', 'score': 0.19}]
chr1	GH01I043204	43204107	43208221	1.32	[{'connected_gene': 'GC01P043207', 'score': 550.77}, {'connected_gene': 'CFAP57', 'score': 11.38}, {'connected_gene': 'FAM183A', 'score': 8.4}, {'connected_gene': 'RNA5SP46', 'score': 0.44}, {'connected_gene': 'LOC105378685', 'score': 0.26}, {'connected_gene': 'EBNA1BP2', 'score': 0.21}]