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
ENST00000320270	[[67341262, 67342966]]	[[67341366, 67342464]]
NM_015169	[[67341262, 67342968]]	[[67341366, 67342464]]

Promoter

Chrom	Start	End	Description
chr8	67341239	67341352	CAGE_peak_1_at_RRS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I065755	65755149	65760089	0.52	[{'connected_gene': 'MTFR1', 'score': 26.44}, {'connected_gene': 'ENSG00000272010', 'score': 15.94}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'GC08P065773', 'score': 0.37}, {'connected_gene': 'GC08M065706', 'score': 0.31}, {'connected_gene': 'PDE7A', 'score': 0.18}]
chr8	GH08I065782	65782971	65783771	0.2	[{'connected_gene': 'MTFR1', 'score': 16.72}, {'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'LINC01299', 'score': 6.13}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8	GH08I065959	65959926	65960721	0.54	[{'connected_gene': 'DNAJC5B', 'score': 12.02}, {'connected_gene': 'RRS1', 'score': 9.93}, {'connected_gene': 'ADHFE1', 'score': 9.93}, {'connected_gene': 'RRS1-AS1', 'score': 9.93}, {'connected_gene': 'MTFR1', 'score': 8.79}, {'connected_gene': 'GC08P065965', 'score': 0.44}, {'connected_gene': 'GC08M065874', 'score': 0.17}]
chr8	GH08I065763	65763238	65763959	0.2	[{'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065706', 'score': 0.28}, {'connected_gene': 'PDE7A', 'score': 0.18}, {'connected_gene': 'MTFR1', 'score': 0.13}]
chr8	GH08I066045	66045640	66046431	0.43	[{'connected_gene': 'DNAJC5B', 'score': 10.7}, {'connected_gene': 'ADHFE1', 'score': 10.56}, {'connected_gene': 'RRS1', 'score': 10.56}, {'connected_gene': 'RRS1-AS1', 'score': 10.56}, {'connected_gene': 'CRH', 'score': 10.49}, {'connected_gene': 'MTFR1', 'score': 9.63}, {'connected_gene': 'LOC105375883', 'score': 0.34}, {'connected_gene': 'GC08P066013', 'score': 0.29}, {'connected_gene': 'GC08M066089', 'score': 0.22}]
chr8	GH08I066171	66171538	66173935	0.49	[{'connected_gene': 'TRIM55', 'score': 11.53}, {'connected_gene': 'RRS1', 'score': 10.15}, {'connected_gene': 'ADHFE1', 'score': 10.15}, {'connected_gene': 'RRS1-AS1', 'score': 10.15}, {'connected_gene': 'LINC00967', 'score': 6.82}, {'connected_gene': 'GC08P066170', 'score': 0.77}, {'connected_gene': 'CRH', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.1}]
chr8	GH08I065944	65944443	65957102	1.75	[{'connected_gene': 'PDE7A', 'score': 18.93}, {'connected_gene': 'MTFR1', 'score': 13.34}, {'connected_gene': 'ARMC1', 'score': 11.15}, {'connected_gene': 'DNAJC5B', 'score': 11.01}, {'connected_gene': 'LINC01299', 'score': 5.29}, {'connected_gene': 'ENSG00000272010', 'score': 4.26}, {'connected_gene': 'RRS1', 'score': 1.29}, {'connected_gene': 'GC08P065965', 'score': 0.37}, {'connected_gene': 'GC08M065874', 'score': 0.18}]
chr8	GH08I066026	66026288	66030648	1.16	[{'connected_gene': 'PDE7A', 'score': 16.61}, {'connected_gene': 'MTFR1', 'score': 14.98}, {'connected_gene': 'ADHFE1', 'score': 10.71}, {'connected_gene': 'RRS1', 'score': 10.71}, {'connected_gene': 'RRS1-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000272010', 'score': 4.13}, {'connected_gene': 'LOC105375883', 'score': 0.77}, {'connected_gene': 'DNAJC5B', 'score': 0.39}, {'connected_gene': 'GC08P066013', 'score': 0.37}, {'connected_gene': 'GC08M066089', 'score': 0.19}]
chr8	GH08I065785	65785146	65785295	0.63	[{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8	GH08I065780	65780520	65781778	0.31	[{'connected_gene': 'PDE7A', 'score': 11.53}, {'connected_gene': 'DNAJC5B', 'score': 10.74}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065824', 'score': 0.25}]
chr8	GH08I065784	65784001	65784200	0.4	[{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.26}]
chr8	GH08I065764	65764021	65764758	0.38	[{'connected_gene': 'PDE7A', 'score': 11.29}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'MTFR1', 'score': 9.94}, {'connected_gene': 'GC08P065773', 'score': 0.44}, {'connected_gene': 'GC08M065706', 'score': 0.28}]
chr8	GH08I065786	65786712	65787200	0.86	[{'connected_gene': 'PDE7A', 'score': 11.54}, {'connected_gene': 'DNAJC5B', 'score': 10.58}, {'connected_gene': 'ADHFE1', 'score': 10.36}, {'connected_gene': 'RRS1', 'score': 10.36}, {'connected_gene': 'RRS1-AS1', 'score': 10.36}, {'connected_gene': 'MTFR1', 'score': 4.87}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065824', 'score': 0.28}]
chr8	GH08I065788	65788891	65791600	1.65	[{'connected_gene': 'PDE7A', 'score': 550.23}, {'connected_gene': 'ADHFE1', 'score': 9.9}, {'connected_gene': 'RRS1', 'score': 9.9}, {'connected_gene': 'RRS1-AS1', 'score': 9.9}, {'connected_gene': 'LINC01299', 'score': 6.07}, {'connected_gene': 'MTFR1', 'score': 4.7}, {'connected_gene': 'GC08P065773', 'score': 0.37}, {'connected_gene': 'GC08M065824', 'score': 0.28}]
chr8	GH08I066605	66605952	66614801	2.53	[{'connected_gene': 'MYBL1', 'score': 558.84}, {'connected_gene': 'ARFGEF1', 'score': 16.66}, {'connected_gene': 'C8orf44', 'score': 14.44}, {'connected_gene': 'ADHFE1', 'score': 11.98}, {'connected_gene': 'RRS1', 'score': 10.42}, {'connected_gene': 'RRS1-AS1', 'score': 10.42}, {'connected_gene': 'C8orf46', 'score': 4.71}, {'connected_gene': 'VCPIP1', 'score': 2.9}, {'connected_gene': 'GC08M066612', 'score': 0.77}, {'connected_gene': 'GC08M066613', 'score': 0.77}, {'connected_gene': 'LOC105375884', 'score': 0.77}, {'connected_gene': 'RNU6-1324P', 'score': 0.14}]
chr8	GH08I066494	66493246	66493395	0.9	[{'connected_gene': 'C8orf46', 'score': 550.29}, {'connected_gene': 'RRS1', 'score': 10.48}, {'connected_gene': 'ADHFE1', 'score': 10.48}, {'connected_gene': 'RRS1-AS1', 'score': 10.48}, {'connected_gene': 'RNU6-1324P', 'score': 0.44}, {'connected_gene': 'LOC100131770', 'score': 0.39}]
chr8	GH08I066454	66454951	66457684	0.77	[{'connected_gene': 'C8orf46', 'score': 30.32}, {'connected_gene': 'ADHFE1', 'score': 26.44}, {'connected_gene': 'C8orf44', 'score': 11.51}, {'connected_gene': 'RRS1', 'score': 10.55}, {'connected_gene': 'RRS1-AS1', 'score': 10.55}, {'connected_gene': 'LOC102724687', 'score': 0.34}]
chr8	GH08I066489	66489084	66492307	0.83	[{'connected_gene': 'C8orf46', 'score': 19.7}, {'connected_gene': 'ADHFE1', 'score': 19.43}, {'connected_gene': 'RRS1', 'score': 10.48}, {'connected_gene': 'RRS1-AS1', 'score': 10.48}, {'connected_gene': 'RNU6-1324P', 'score': 0.39}, {'connected_gene': 'LOC100131770', 'score': 0.39}]
chr8	GH08I066452	66451811	66453928	0.78	[{'connected_gene': 'C8orf46', 'score': 29.12}, {'connected_gene': 'ADHFE1', 'score': 26.96}, {'connected_gene': 'RRS1', 'score': 10.58}, {'connected_gene': 'RRS1-AS1', 'score': 10.58}, {'connected_gene': 'LOC102724687', 'score': 0.34}]
chr8	GH08I066485	66485732	66486564	0.72	[{'connected_gene': 'RRS1', 'score': 10.49}, {'connected_gene': 'ADHFE1', 'score': 10.49}, {'connected_gene': 'RRS1-AS1', 'score': 10.49}, {'connected_gene': 'C8orf46', 'score': 9.47}, {'connected_gene': 'LOC100131770', 'score': 0.44}, {'connected_gene': 'RNU6-1324P', 'score': 0.37}]
chr8	GH08I066490	66488377	66489000	0.76	[{'connected_gene': 'RRS1', 'score': 10.49}, {'connected_gene': 'ADHFE1', 'score': 10.49}, {'connected_gene': 'RRS1-AS1', 'score': 10.49}, {'connected_gene': 'LOC100131770', 'score': 0.44}, {'connected_gene': 'RNU6-1324P', 'score': 0.39}, {'connected_gene': 'C8orf46', 'score': 0.31}]
chr8	GH08I066103	66103059	66104284	0.43	[{'connected_gene': 'CRH', 'score': 11.08}, {'connected_gene': 'RRS1', 'score': 10.02}, {'connected_gene': 'ADHFE1', 'score': 10.02}, {'connected_gene': 'RRS1-AS1', 'score': 10.02}, {'connected_gene': 'GC08M066089', 'score': 0.77}, {'connected_gene': 'TRIM55', 'score': 0.44}, {'connected_gene': 'TRY-GTA5-1', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.16}]
chr8	GH08I066063	66063808	66065853	0.96	[{'connected_gene': 'CRH', 'score': 12.48}, {'connected_gene': 'RRS1', 'score': 10.88}, {'connected_gene': 'RRS1-AS1', 'score': 10.88}, {'connected_gene': 'ADHFE1', 'score': 10.88}, {'connected_gene': 'GC08M066089', 'score': 0.28}, {'connected_gene': 'LOC105375883', 'score': 0.26}, {'connected_gene': 'DNAJC5B', 'score': 0.25}, {'connected_gene': 'GC08P066013', 'score': 0.23}]
chr8	GH08I066427	66427855	66433434	2.28	[{'connected_gene': 'ADHFE1', 'score': 568.63}, {'connected_gene': 'RRS1', 'score': 550.77}, {'connected_gene': 'LOC102724687', 'score': 550.77}, {'connected_gene': 'RRS1-AS1', 'score': 550.77}, {'connected_gene': 'C8orf46', 'score': 9.06}, {'connected_gene': 'PIR44367', 'score': 0.77}, {'connected_gene': 'GC08P066013', 'score': 0.05}]
chr8	GH08I066455	66454026	66454175	0.4	[{'connected_gene': 'ADHFE1', 'score': 10.58}, {'connected_gene': 'RRS1', 'score': 10.55}, {'connected_gene': 'RRS1-AS1', 'score': 10.55}, {'connected_gene': 'C8orf46', 'score': 0.44}, {'connected_gene': 'LOC102724687', 'score': 0.34}]
chr8	GH08I066451	66451080	66451606	0.31	[{'connected_gene': 'ADHFE1', 'score': 25.59}, {'connected_gene': 'RRS1', 'score': 10.58}, {'connected_gene': 'RRS1-AS1', 'score': 10.58}, {'connected_gene': 'C8orf46', 'score': 5.16}, {'connected_gene': 'LOC102724687', 'score': 0.37}]
chr8	GH08I066488	66488001	66488200	0.2	[{'connected_gene': 'ADHFE1', 'score': 19.46}, {'connected_gene': 'RRS1', 'score': 10.49}, {'connected_gene': 'RRS1-AS1', 'score': 10.49}, {'connected_gene': 'C8orf46', 'score': 5.33}, {'connected_gene': 'LOC100131770', 'score': 0.44}, {'connected_gene': 'RNU6-1324P', 'score': 0.39}]
chr8	GH08I066674	66674746	66674895	0.65	[{'connected_gene': 'ADHFE1', 'score': 9.84}, {'connected_gene': 'RRS1', 'score': 9.84}, {'connected_gene': 'RRS1-AS1', 'score': 9.84}, {'connected_gene': 'C8orf44-SGK3', 'score': 0.44}, {'connected_gene': 'C8orf44', 'score': 0.44}, {'connected_gene': 'SGK3', 'score': 0.28}]
chr8	GH08I066021	66021141	66023423	1.9	[{'connected_gene': 'LOC105375883', 'score': 550.77}, {'connected_gene': 'DNAJC5B', 'score': 550.44}, {'connected_gene': 'PDE7A', 'score': 16.02}, {'connected_gene': 'MTFR1', 'score': 11.4}, {'connected_gene': 'ADHFE1', 'score': 10.06}, {'connected_gene': 'RRS1', 'score': 10.06}, {'connected_gene': 'RRS1-AS1', 'score': 10.06}, {'connected_gene': 'GC08P066013', 'score': 0.44}, {'connected_gene': 'GC08M066012', 'score': 0.44}]
chr8	GH08I066165	66165694	66169362	0.58	[{'connected_gene': 'LINC00967', 'score': 17.02}, {'connected_gene': 'TRIM55', 'score': 11.55}, {'connected_gene': 'ADHFE1', 'score': 10.15}, {'connected_gene': 'RRS1', 'score': 10.15}, {'connected_gene': 'RRS1-AS1', 'score': 10.15}, {'connected_gene': 'GC08P066170', 'score': 0.77}, {'connected_gene': 'PIR59286', 'score': 0.23}, {'connected_gene': 'GC08P066144', 'score': 0.23}, {'connected_gene': 'GC08P066148', 'score': 0.23}, {'connected_gene': 'GC08P066013', 'score': 0.1}]
chr8	GH08I066139	66139126	66139275	0.4	[{'connected_gene': 'TRY-GTA5-1', 'score': 12.3}, {'connected_gene': 'CRH', 'score': 10.93}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'PIR59286', 'score': 0.31}, {'connected_gene': 'GC08P066144', 'score': 0.31}, {'connected_gene': 'GC08P066148', 'score': 0.31}, {'connected_gene': 'TRIM55', 'score': 0.31}, {'connected_gene': 'GC08P066170', 'score': 0.29}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8	GH08I066136	66136874	66138209	0.51	[{'connected_gene': 'TRY-GTA5-1', 'score': 12.32}, {'connected_gene': 'CRH', 'score': 10.92}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'PIR59286', 'score': 0.34}, {'connected_gene': 'GC08P066144', 'score': 0.34}, {'connected_gene': 'GC08P066148', 'score': 0.34}, {'connected_gene': 'TRIM55', 'score': 0.34}, {'connected_gene': 'GC08P066170', 'score': 0.29}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8	GH08I066141	66141401	66143580	1.26	[{'connected_gene': 'TRY-GTA5-1', 'score': 12.3}, {'connected_gene': 'CRH', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'LINC00967', 'score': 5.4}, {'connected_gene': 'GC08P066170', 'score': 0.31}, {'connected_gene': 'PIR59286', 'score': 0.31}, {'connected_gene': 'GC08P066144', 'score': 0.31}, {'connected_gene': 'GC08P066148', 'score': 0.31}, {'connected_gene': 'TRIM55', 'score': 0.31}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8	GH08I065963	65963941	65966095	0.97	[{'connected_gene': 'GC08P065965', 'score': 550.77}, {'connected_gene': 'DNAJC5B', 'score': 11.16}, {'connected_gene': 'RRS1', 'score': 9.93}, {'connected_gene': 'RRS1-AS1', 'score': 9.93}, {'connected_gene': 'ADHFE1', 'score': 9.93}, {'connected_gene': 'MTFR1', 'score': 8.79}, {'connected_gene': 'PDE7A', 'score': 5.83}, {'connected_gene': 'LINC01299', 'score': 5.29}, {'connected_gene': 'GC08M065874', 'score': 0.16}]
chr8	GH08I065760	65760966	65762595	1.05	[{'connected_gene': 'ENSG00000272010', 'score': 12.89}, {'connected_gene': 'DNAJC5B', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.05}, {'connected_gene': 'RRS1', 'score': 10.05}, {'connected_gene': 'RRS1-AS1', 'score': 10.05}, {'connected_gene': 'MTFR1', 'score': 7.27}, {'connected_gene': 'LINC01299', 'score': 6.37}, {'connected_gene': 'GC08P065773', 'score': 0.39}, {'connected_gene': 'GC08M065706', 'score': 0.29}, {'connected_gene': 'PDE7A', 'score': 0.18}]