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
ENST00000465198	[[46768944, 46769099], [46803225, 46803388]]	None
ENST00000238738	[[46769866, 46770327], [46770892, 46770951], [46803225, 46803390], [46803699, 46803795], [46808066, 46810260]]	[[46770185, 46770327], [46770892, 46770951], [46803225, 46803390], [46803699, 46803795], [46808066, 46808222]]
ENST00000432183	[[46769874, 46770327], [46803225, 46803390], [46803699, 46803795]]	[[46770185, 46770327], [46803225, 46803236]]
ENST00000489471	[[46770287, 46770327], [46770892, 46770951], [46787662, 46787828], [46803225, 46803390], [46803699, 46803795], [46808066, 46808409]]	[[46770287, 46770327], [46770892, 46770951], [46787662, 46787828], [46803225, 46803236]]
ENST00000482449	[[46770538, 46770951], [46803225, 46803390], [46803699, 46803795]]	[[46803261, 46803390], [46803699, 46803795]]
ENST00000473428	[[46770905, 46770951], [46799866, 46799925], [46803225, 46803390], [46803699, 46803795], [46808066, 46808457]]	[[46770905, 46770951], [46799866, 46799923]]
ENST00000494370	[[46803266, 46803390], [46803699, 46804264]]	None
ENST00000489448	[[46807422, 46807863], [46808066, 46808185]]	None
NM_012249	[[46769866, 46770327], [46770892, 46770951], [46803225, 46803390], [46803699, 46803795], [46808066, 46811827]]	[[46770185, 46770327], [46770892, 46770951], [46803225, 46803390], [46803699, 46803795], [46808066, 46808222]]

Promoter

Chrom	Start	End	Description
chr2	46769506	46769526	CAGE_peak_6_at_RHOQ_5end
chr2	46769556	46769568	CAGE_peak_7_at_RHOQ_5end
chr2	46769615	46769692	CAGE_peak_1_at_RHOQ_5end
chr2	46769798	46769842	CAGE_peak_2_at_RHOQ_5end
chr2	46770531	46770576	CAGE_peak_3_at_RHOQ_5end
chr2	46770597	46770607	CAGE_peak_13_at_RHOQ_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I046481	46481144	46482371	0.95	[{'connected_gene': 'SOCS5', 'score': 13.79}, {'connected_gene': 'RHOQ', 'score': 11.32}, {'connected_gene': 'ATP6V1E2', 'score': 11.32}, {'connected_gene': 'MSH2', 'score': 11.3}, {'connected_gene': 'LOC101805491', 'score': 10.4}, {'connected_gene': 'EPAS1', 'score': 9.65}, {'connected_gene': 'PRKCE', 'score': 9.24}, {'connected_gene': 'TMEM247', 'score': 0.77}, {'connected_gene': 'ENSG00000253515', 'score': 0.37}, {'connected_gene': 'ENSG00000284608', 'score': 0.23}]
chr2	GH02I046557	46557658	46560871	0.38	[{'connected_gene': 'CRIPT', 'score': 14.42}, {'connected_gene': 'ATP6V1E2', 'score': 12.67}, {'connected_gene': 'RHOQ', 'score': 0.37}, {'connected_gene': 'LOC100506142', 'score': 0.34}]
chr2	GH02I046551	46551692	46551998	0.4	[{'connected_gene': 'CRIPT', 'score': 13.78}, {'connected_gene': 'ATP6V1E2', 'score': 0.44}, {'connected_gene': 'RHOQ', 'score': 0.39}, {'connected_gene': 'LOC100506142', 'score': 0.31}]
chr2	GH02I046561	46561146	46562556	0.43	[{'connected_gene': 'CRIPT', 'score': 14.39}, {'connected_gene': 'ATP6V1E2', 'score': 0.37}, {'connected_gene': 'LOC100506142', 'score': 0.37}, {'connected_gene': 'RHOQ', 'score': 0.34}]
chr2	GH02I046567	46567373	46571702	1.19	[{'connected_gene': 'ATP6V1E2', 'score': 22.97}, {'connected_gene': 'CRIPT', 'score': 15.38}, {'connected_gene': 'RHOQ', 'score': 11.94}, {'connected_gene': 'ENSG00000253515', 'score': 11.62}, {'connected_gene': 'SOCS5', 'score': 10.53}, {'connected_gene': 'LOC100506142', 'score': 7.74}]
chr2	GH02I046587	46587375	46590190	0.57	[{'connected_gene': 'ATP6V1E2', 'score': 22.98}, {'connected_gene': 'CRIPT', 'score': 12.99}, {'connected_gene': 'RHOQ', 'score': 11.9}, {'connected_gene': 'ENSG00000253515', 'score': 11.55}, {'connected_gene': 'LOC100506142', 'score': 0.44}, {'connected_gene': 'PIGF', 'score': 0.31}]
chr2	GH02I046554	46554175	46555311	0.77	[{'connected_gene': 'ATP6V1E2', 'score': 16.28}, {'connected_gene': 'CRIPT', 'score': 14.45}, {'connected_gene': 'RHOQ', 'score': 0.39}, {'connected_gene': 'LOC100506142', 'score': 0.31}]
chr2	GH02I046519	46519793	46521831	1.63	[{'connected_gene': 'ATP6V1E2', 'score': 557.18}, {'connected_gene': 'ENSG00000253515', 'score': 12.57}, {'connected_gene': 'CRIPT', 'score': 9.28}, {'connected_gene': 'LOC101805491', 'score': 6.66}, {'connected_gene': 'TTC7A', 'score': 4.27}, {'connected_gene': 'RHOQ', 'score': 3.31}, {'connected_gene': 'GC02M046499', 'score': 0.34}]
chr2	GH02I046538	46538001	46539000	1.01	[{'connected_gene': 'ATP6V1E2', 'score': 25.84}, {'connected_gene': 'ENSG00000253515', 'score': 12.61}, {'connected_gene': 'TTC7A', 'score': 5.16}, {'connected_gene': 'RHOQ', 'score': 3.54}, {'connected_gene': 'MCFD2', 'score': 1.36}, {'connected_gene': 'GC02M046499', 'score': 0.28}]
chr2	GH02I046540	46540175	46546263	2.28	[{'connected_gene': 'ATP6V1E2', 'score': 583.58}, {'connected_gene': 'RHOQ', 'score': 558.45}, {'connected_gene': 'ENSG00000253515', 'score': 12.07}, {'connected_gene': 'ENSG00000228925', 'score': 12.01}, {'connected_gene': 'SOCS5', 'score': 11.21}, {'connected_gene': 'LOC100506142', 'score': 0.28}]
chr2	GH02I046582	46582660	46585725	0.2	[{'connected_gene': 'ATP6V1E2', 'score': 24.08}, {'connected_gene': 'RHOQ', 'score': 12.06}, {'connected_gene': 'ENSG00000253515', 'score': 11.29}, {'connected_gene': 'LOC100506142', 'score': 0.77}, {'connected_gene': 'CRIPT', 'score': 0.29}, {'connected_gene': 'PIGF', 'score': 0.29}]
chr2	GH02I046546	46546601	46550190	1.32	[{'connected_gene': 'ATP6V1E2', 'score': 24.46}, {'connected_gene': 'ENSG00000253515', 'score': 11.58}, {'connected_gene': 'RHOQ', 'score': 9.33}, {'connected_gene': 'LOC100506142', 'score': 0.29}]
chr2	GH02I046534	46534336	46536199	1.16	[{'connected_gene': 'ATP6V1E2', 'score': 25.69}, {'connected_gene': 'ENSG00000253515', 'score': 12.28}, {'connected_gene': 'RHOQ', 'score': 8.25}, {'connected_gene': 'GC02M046499', 'score': 0.28}]
chr2	GH02I046563	46563914	46567142	0.57	[{'connected_gene': 'ATP6V1E2', 'score': 14.89}, {'connected_gene': 'ENSG00000253515', 'score': 11.74}, {'connected_gene': 'LOC100506142', 'score': 0.39}, {'connected_gene': 'RHOQ', 'score': 0.34}]
chr2	GH02I046909	46909003	46911011	1.61	[{'connected_gene': 'MCFD2', 'score': 612.86}, {'connected_gene': 'ENSG00000226548', 'score': 10.11}, {'connected_gene': 'LINC01119', 'score': 10.04}, {'connected_gene': 'TTC7A', 'score': 1.7}, {'connected_gene': 'RHOQ', 'score': 1.39}, {'connected_gene': 'GC02P046913', 'score': 0.77}, {'connected_gene': 'PIR31573', 'score': 0.44}]
chr2	GH02I046963	46963601	46972628	1.73	[{'connected_gene': 'TTC7A', 'score': 42.01}, {'connected_gene': 'MCFD2', 'score': 20.06}, {'connected_gene': 'CALM2', 'score': 10.38}, {'connected_gene': 'MSH6', 'score': 9.75}, {'connected_gene': 'ENSG00000228925', 'score': 4.72}, {'connected_gene': 'RHOQ', 'score': 3.77}, {'connected_gene': 'GC02M046968', 'score': 0.44}, {'connected_gene': 'PIR42793', 'score': 0.39}]
chr2	GH02I046977	46977445	46990415	1.74	[{'connected_gene': 'TTC7A', 'score': 36.09}, {'connected_gene': 'MCFD2', 'score': 21.16}, {'connected_gene': 'ENSG00000233845', 'score': 11.6}, {'connected_gene': 'CALM2', 'score': 10.9}, {'connected_gene': 'ENSG00000228925', 'score': 5.47}, {'connected_gene': 'RHOQ', 'score': 4.06}, {'connected_gene': 'GC02M046968', 'score': 0.44}]
chr2	GH02I046573	46573978	46575236	0.63	[{'connected_gene': 'RHOQ', 'score': 11.93}, {'connected_gene': 'ATP6V1E2', 'score': 11.93}, {'connected_gene': 'ENSG00000253515', 'score': 11.3}, {'connected_gene': 'LOC100506142', 'score': 0.44}]
chr2	GH02I046387	46387464	46387606	0.48	[{'connected_gene': 'EPAS1', 'score': 10.29}, {'connected_gene': 'RHOQ', 'score': 1.55}, {'connected_gene': 'LINC01820', 'score': 0.44}, {'connected_gene': 'LOC105374583', 'score': 0.25}, {'connected_gene': 'GC02M046254', 'score': 0.25}]
chr2	GH02I046224	46224216	46226270	1.38	[{'connected_gene': 'EPAS1', 'score': 12.26}, {'connected_gene': 'RHOQ', 'score': 2.41}, {'connected_gene': 'LOC101926974', 'score': 0.34}, {'connected_gene': 'ENSG00000231336', 'score': 0.22}]
chr2	GH02I046578	46578860	46581204	0.38	[{'connected_gene': 'LOC100506142', 'score': 550.77}, {'connected_gene': 'CRIPT', 'score': 15.03}, {'connected_gene': 'ATP6V1E2', 'score': 14.96}, {'connected_gene': 'PIGF', 'score': 6.61}, {'connected_gene': 'RHOQ', 'score': 0.28}]
chr2	GH02I046564	46563001	46563400	0.51	[{'connected_gene': 'LOC100506142', 'score': 0.37}, {'connected_gene': 'RHOQ', 'score': 0.34}, {'connected_gene': 'ATP6V1E2', 'score': 0.34}]
chr2	GH02I046562	46562562	46562711	0.58	[{'connected_gene': 'LOC100506142', 'score': 0.37}, {'connected_gene': 'RHOQ', 'score': 0.34}, {'connected_gene': 'ATP6V1E2', 'score': 0.34}]
chr2	GH02I046256	46256721	46257061	1.09	[{'connected_gene': 'RPL36AP14', 'score': 550.77}, {'connected_gene': 'LOC105374581', 'score': 550.77}, {'connected_gene': 'EPAS1', 'score': 11.68}, {'connected_gene': 'ENSG00000253515', 'score': 9.96}, {'connected_gene': 'ENSG00000232696', 'score': 9.93}, {'connected_gene': 'ENSG00000226548', 'score': 4.49}, {'connected_gene': 'RHOQ', 'score': 1.93}, {'connected_gene': 'LOC101926974', 'score': 0.39}, {'connected_gene': 'GC02M046254', 'score': 0.1}]
chr2	GH02I046568	46567222	46567371	0.66	[{'connected_gene': 'ENSG00000253515', 'score': 10.75}, {'connected_gene': 'SOCS5', 'score': 10.51}, {'connected_gene': 'LOC100506142', 'score': 0.39}, {'connected_gene': 'ATP6V1E2', 'score': 0.34}, {'connected_gene': 'RHOQ', 'score': 0.31}]
chr2	GH02I046537	46537067	46537677	0.38	[{'connected_gene': 'ENSG00000253515', 'score': 12.61}, {'connected_gene': 'RHOQ', 'score': 0.77}, {'connected_gene': 'ATP6V1E2', 'score': 0.44}, {'connected_gene': 'GC02M046499', 'score': 0.28}]
chr2	GH02I046539	46537931	46537931	0.4	[{'connected_gene': 'ENSG00000253515', 'score': 12.61}, {'connected_gene': 'RHOQ', 'score': 0.77}, {'connected_gene': 'ATP6V1E2', 'score': 0.77}, {'connected_gene': 'GC02M046499', 'score': 0.28}]
chr2	GH02I046469	46469652	46470835	0.75	[{'connected_gene': 'ENSG00000253515', 'score': 12.5}, {'connected_gene': 'LOC101805491', 'score': 10.7}, {'connected_gene': 'MCFD2', 'score': 5.43}, {'connected_gene': 'TTC7A', 'score': 4.97}, {'connected_gene': 'RHOQ', 'score': 2.88}, {'connected_gene': 'TMEM247', 'score': 0.44}, {'connected_gene': 'RN7SL817P', 'score': 0.34}, {'connected_gene': 'ENSG00000284608', 'score': 0.26}]
chr2	GH02I046460	46460203	46462551	1.36	[{'connected_gene': 'ENSG00000253515', 'score': 11.47}, {'connected_gene': 'ENSG00000232696', 'score': 10.31}, {'connected_gene': 'LOC101805491', 'score': 9.9}, {'connected_gene': 'TTC7A', 'score': 8.28}, {'connected_gene': 'RHOQ', 'score': 2.66}, {'connected_gene': 'MCFD2', 'score': 2.1}, {'connected_gene': 'RN7SL817P', 'score': 0.39}, {'connected_gene': 'TMEM247', 'score': 0.37}, {'connected_gene': 'ENSG00000284608', 'score': 0.29}]
chr2	GH02I046530	46530658	46530905	0.43	[{'connected_gene': 'ENSG00000253515', 'score': 12.68}, {'connected_gene': 'LINC01119', 'score': 9.7}, {'connected_gene': 'ENSG00000226548', 'score': 9.69}, {'connected_gene': 'ATP6V1E2', 'score': 7.31}, {'connected_gene': 'TTC7A', 'score': 3.74}, {'connected_gene': 'RHOQ', 'score': 2.7}, {'connected_gene': 'GC02M046499', 'score': 0.29}]
chr2	GH02I046525	46525290	46526425	0.31	[{'connected_gene': 'ENSG00000253515', 'score': 13.4}, {'connected_gene': 'LINC01119', 'score': 9.7}, {'connected_gene': 'ENSG00000226548', 'score': 9.69}, {'connected_gene': 'RHOQ', 'score': 0.37}, {'connected_gene': 'ATP6V1E2', 'score': 0.37}, {'connected_gene': 'GC02M046499', 'score': 0.31}]