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

Promoter

Chrom	Start	End	Description
chr19	7812412	7812426	CAGE_peak_2_at_CD209_5end
chr19	7812446	7812473	CAGE_peak_3_at_CD209_5end
chr19	7812475	7812509	CAGE_peak_1_at_CD209_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007482	7482367	7484552	1.22	[{'connected_gene': 'PEX11G', 'score': 49.33}, {'connected_gene': 'ARHGEF18', 'score': 7.59}, {'connected_gene': 'MCOLN1', 'score': 5.81}, {'connected_gene': 'EVI5L', 'score': 2.3}, {'connected_gene': 'STXBP2', 'score': 1.98}, {'connected_gene': 'PNPLA6', 'score': 1.94}, {'connected_gene': 'CD209', 'score': 1.53}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19	GH19I007521	7521845	7523869	2.57	[{'connected_gene': 'MCOLN1', 'score': 553.45}, {'connected_gene': 'GC19M007510', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 80.55}, {'connected_gene': 'ELAVL1', 'score': 73.1}, {'connected_gene': 'XAB2', 'score': 51.63}, {'connected_gene': 'ZNF557', 'score': 34.69}, {'connected_gene': 'MAP2K7', 'score': 28.57}, {'connected_gene': 'ZNF414', 'score': 19.85}, {'connected_gene': 'TIMM44', 'score': 11.63}, {'connected_gene': 'SNAPC2', 'score': 11.12}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'CD209', 'score': 10.17}, {'connected_gene': 'EVI5L', 'score': 10.08}, {'connected_gene': 'PEX11G', 'score': 7.01}, {'connected_gene': 'LOC105372261', 'score': 0.77}]
chr19	GH19I007600	7600121	7600377	0.22	[{'connected_gene': 'XAB2', 'score': 12.4}, {'connected_gene': 'PET100', 'score': 12.4}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CLEC4G', 'score': 10.52}, {'connected_gene': 'CAMSAP3', 'score': 4.68}, {'connected_gene': 'PNPLA6', 'score': 1.73}, {'connected_gene': 'INSR', 'score': 1.65}, {'connected_gene': 'MIR6792', 'score': 0.37}]
chr19	GH19I007605	7605515	7605944	0.7	[{'connected_gene': 'XAB2', 'score': 12.42}, {'connected_gene': 'PET100', 'score': 12.42}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'CLEC4G', 'score': 10.66}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CAMSAP3', 'score': 0.44}, {'connected_gene': 'MIR6792', 'score': 0.39}]
chr19	GH19I007602	7602208	7604746	0.63	[{'connected_gene': 'XAB2', 'score': 25.8}, {'connected_gene': 'PET100', 'score': 12.4}, {'connected_gene': 'RPL21P129', 'score': 11.32}, {'connected_gene': 'CD209', 'score': 11.32}, {'connected_gene': 'ARHGEF18', 'score': 10.57}, {'connected_gene': 'CLEC4G', 'score': 10.52}, {'connected_gene': 'PCP2', 'score': 6.87}, {'connected_gene': 'CAMSAP3', 'score': 0.44}, {'connected_gene': 'MIR6792', 'score': 0.39}]
chr19	GH19I007902	7902532	7905529	2.06	[{'connected_gene': 'MAP2K7', 'score': 561.5}, {'connected_gene': 'GC19M007902', 'score': 550.77}, {'connected_gene': 'ENSG00000214248', 'score': 550.77}, {'connected_gene': 'GC19M007901', 'score': 550.77}, {'connected_gene': 'ZNF558', 'score': 34.01}, {'connected_gene': 'HNRNPM', 'score': 30.76}, {'connected_gene': 'ELAVL1', 'score': 26.77}, {'connected_gene': 'XAB2', 'score': 21.17}, {'connected_gene': 'ZNF414', 'score': 11.9}, {'connected_gene': 'ENSG00000269300', 'score': 11.6}, {'connected_gene': 'ZNF557', 'score': 11.42}, {'connected_gene': 'CD209', 'score': 10.2}, {'connected_gene': 'LRRC8E', 'score': 8.92}, {'connected_gene': 'ENSG00000269139', 'score': 5.51}, {'connected_gene': 'PRR36', 'score': 5.14}, {'connected_gene': 'CD320', 'score': 4.71}, {'connected_gene': 'ENSG00000268149', 'score': 0.44}]
chr19	GH19I008353	8353801	8354400	1.06	[{'connected_gene': 'HNRNPM', 'score': 19.62}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.17}, {'connected_gene': 'ELAVL1', 'score': 14.32}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'MAP2K7', 'score': 10.77}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'MARCH2', 'score': 6.71}, {'connected_gene': 'LOC100129682', 'score': 0.44}, {'connected_gene': 'ANGPTL4', 'score': 0.44}]
chr19	GH19I008566	8566854	8574398	1.21	[{'connected_gene': 'MYO1F', 'score': 40.23}, {'connected_gene': 'ZNF266', 'score': 19.92}, {'connected_gene': 'HNRNPM', 'score': 19.59}, {'connected_gene': 'ZNF699', 'score': 19.38}, {'connected_gene': 'ZNF317', 'score': 15.5}, {'connected_gene': 'ZNF558', 'score': 15.19}, {'connected_gene': 'ELAVL1', 'score': 14.3}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'XAB2', 'score': 11.99}, {'connected_gene': 'PRAM1', 'score': 11.53}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.12}, {'connected_gene': 'ENSG00000267986', 'score': 9.84}, {'connected_gene': 'ZNF426', 'score': 9.73}, {'connected_gene': 'MARCH2', 'score': 3.32}, {'connected_gene': 'RAB11B', 'score': 1.18}, {'connected_gene': 'ENSG00000279396', 'score': 0.44}, {'connected_gene': 'PIR49089', 'score': 0.44}]
chr19	GH19I007791	7791565	7793176	0.57	[{'connected_gene': 'CLEC4GP1', 'score': 15.03}, {'connected_gene': 'TRAPPC5', 'score': 12.63}, {'connected_gene': 'MCEMP1', 'score': 12.63}, {'connected_gene': 'RPL21P129', 'score': 12.36}, {'connected_gene': 'CD209', 'score': 12.36}, {'connected_gene': 'CLEC4G', 'score': 12.17}, {'connected_gene': 'CAMSAP3', 'score': 10.83}, {'connected_gene': 'EXOSC3P2', 'score': 0.34}]
chr19	GH19I007779	7779293	7780464	0.57	[{'connected_gene': 'CLEC4GP1', 'score': 13.1}, {'connected_gene': 'RPL21P129', 'score': 12.74}, {'connected_gene': 'CD209', 'score': 12.72}, {'connected_gene': 'CLEC4G', 'score': 12.59}, {'connected_gene': 'FCER2', 'score': 12.21}, {'connected_gene': 'TRAPPC5', 'score': 12.01}, {'connected_gene': 'MCEMP1', 'score': 12.0}, {'connected_gene': 'ZNF414', 'score': 10.79}, {'connected_gene': 'LOC105372263', 'score': 0.44}, {'connected_gene': 'GC19P007785', 'score': 0.44}]
chr19	GH19I008388	8387709	8397979	2.53	[{'connected_gene': 'RAB11B', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 51.53}, {'connected_gene': 'ELAVL1', 'score': 50.22}, {'connected_gene': 'ZNF699', 'score': 38.92}, {'connected_gene': 'ZNF558', 'score': 38.15}, {'connected_gene': 'XAB2', 'score': 32.85}, {'connected_gene': 'ZNF317', 'score': 23.54}, {'connected_gene': 'ENSG00000269300', 'score': 20.34}, {'connected_gene': 'MAP2K7', 'score': 19.26}, {'connected_gene': 'MARCH2', 'score': 18.5}, {'connected_gene': 'ZNF177', 'score': 13.8}, {'connected_gene': 'ZNF559', 'score': 12.93}, {'connected_gene': 'RAB11B-AS1', 'score': 12.42}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'CD209', 'score': 10.13}, {'connected_gene': 'EVI5L', 'score': 10.05}, {'connected_gene': 'ANGPTL4', 'score': 8.89}, {'connected_gene': 'RPS28', 'score': 4.85}, {'connected_gene': 'MIR4999', 'score': 0.77}, {'connected_gene': 'GC19P008401', 'score': 0.44}]
chr19	GH19I007714	7714170	7715443	0.71	[{'connected_gene': 'CD209', 'score': 17.03}, {'connected_gene': 'TRAPPC5', 'score': 13.16}, {'connected_gene': 'MCEMP1', 'score': 13.14}, {'connected_gene': 'RPL21P129', 'score': 11.88}, {'connected_gene': 'CAMSAP3', 'score': 10.87}, {'connected_gene': 'CLEC4G', 'score': 6.8}, {'connected_gene': 'FCER2', 'score': 6.09}, {'connected_gene': 'XAB2', 'score': 5.54}, {'connected_gene': 'LOC105372262', 'score': 0.44}]
chr19	GH19I007718	7718519	7718953	0.63	[{'connected_gene': 'CD209', 'score': 12.57}, {'connected_gene': 'RPL21P129', 'score': 12.56}, {'connected_gene': 'CLEC4G', 'score': 6.15}, {'connected_gene': 'LOC105372262', 'score': 0.39}]
chr19	GH19I007747	7747001	7747200	0.2	[{'connected_gene': 'CD209', 'score': 550.77}, {'connected_gene': 'LOC100129391', 'score': 0.44}]
chr19	GH19I007748	7747524	7747583	0.61	[{'connected_gene': 'CD209', 'score': 550.77}, {'connected_gene': 'LOC100129391', 'score': 0.44}]
chr19	GH19I007700	7700966	7708009	2.08	[{'connected_gene': 'FCER2', 'score': 567.12}, {'connected_gene': 'STXBP2', 'score': 17.49}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.56}, {'connected_gene': 'XAB2', 'score': 12.91}, {'connected_gene': 'PEX11G', 'score': 12.81}, {'connected_gene': 'MAP2K7', 'score': 12.54}, {'connected_gene': 'CD209', 'score': 12.41}, {'connected_gene': 'CLEC4G', 'score': 12.41}, {'connected_gene': 'RPL21P129', 'score': 12.4}, {'connected_gene': 'MCEMP1', 'score': 10.33}, {'connected_gene': 'MCOLN1', 'score': 10.02}, {'connected_gene': 'PNPLA6', 'score': 5.73}, {'connected_gene': 'RAB11B-AS1', 'score': 5.45}, {'connected_gene': 'ARHGEF18', 'score': 4.88}, {'connected_gene': 'RETN', 'score': 1.51}, {'connected_gene': 'LOC105372262', 'score': 0.77}, {'connected_gene': 'GC19P007703', 'score': 0.44}]
chr19	GH19I007272	7272201	7273714	0.89	[{'connected_gene': 'ELAVL1', 'score': 14.29}, {'connected_gene': 'XAB2', 'score': 12.02}, {'connected_gene': 'ZNF557', 'score': 11.47}, {'connected_gene': 'MAP2K7', 'score': 10.75}, {'connected_gene': 'CD209', 'score': 10.14}, {'connected_gene': 'KHSRP', 'score': 9.71}, {'connected_gene': 'INSR', 'score': 6.39}, {'connected_gene': 'GC19P007214', 'score': 0.22}]
chr19	GH19I007799	7799201	7800600	0.99	[{'connected_gene': 'TRAPPC5', 'score': 12.32}, {'connected_gene': 'MCEMP1', 'score': 12.32}, {'connected_gene': 'CLEC4G', 'score': 12.07}, {'connected_gene': 'RPL21P129', 'score': 11.83}, {'connected_gene': 'CD209', 'score': 11.81}, {'connected_gene': 'XAB2', 'score': 11.47}, {'connected_gene': 'PET100', 'score': 11.47}, {'connected_gene': 'LRRC8E', 'score': 9.94}, {'connected_gene': 'PRR36', 'score': 5.59}, {'connected_gene': 'CLEC4GP1', 'score': 0.39}, {'connected_gene': 'EXOSC3P2', 'score': 0.39}]
chr19	GH19I007807	7807388	7808297	0.8	[{'connected_gene': 'TRAPPC5', 'score': 11.86}, {'connected_gene': 'MCEMP1', 'score': 11.85}, {'connected_gene': 'RPL21P129', 'score': 11.66}, {'connected_gene': 'CD209', 'score': 11.64}, {'connected_gene': 'CLEC4G', 'score': 11.62}, {'connected_gene': 'TEX45', 'score': 10.43}, {'connected_gene': 'PEX11G', 'score': 10.43}, {'connected_gene': 'EXOSC3P2', 'score': 0.44}, {'connected_gene': 'CLEC4GP1', 'score': 0.34}]
chr19	GH19I007915	7915778	7922365	2.06	[{'connected_gene': 'TGFBR3L', 'score': 550.77}, {'connected_gene': 'ENSG00000260500', 'score': 550.77}, {'connected_gene': 'SNAPC2', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 34.28}, {'connected_gene': 'XAB2', 'score': 26.89}, {'connected_gene': 'ZNF558', 'score': 25.65}, {'connected_gene': 'ELAVL1', 'score': 23.72}, {'connected_gene': 'ZNF557', 'score': 21.07}, {'connected_gene': 'MAP2K7', 'score': 20.99}, {'connected_gene': 'CD209', 'score': 10.19}, {'connected_gene': 'LRRC8E', 'score': 6.87}]
chr19	GH19I007798	7798615	7798764	0.43	[{'connected_gene': 'RPL21P129', 'score': 11.83}, {'connected_gene': 'CD209', 'score': 11.81}, {'connected_gene': 'CLEC4G', 'score': 11.77}, {'connected_gene': 'CLEC4GP1', 'score': 0.39}, {'connected_gene': 'EXOSC3P2', 'score': 0.37}]
chr19	GH19I007795	7795231	7796042	0.67	[{'connected_gene': 'RPL21P129', 'score': 11.84}, {'connected_gene': 'CD209', 'score': 11.83}, {'connected_gene': 'CLEC4G', 'score': 11.77}, {'connected_gene': 'CLEC4GP1', 'score': 0.44}, {'connected_gene': 'EXOSC3P2', 'score': 0.37}]
chr19	GH19I007772	7772601	7773400	0.99	[{'connected_gene': 'RPL21P129', 'score': 13.29}, {'connected_gene': 'CD209', 'score': 13.26}, {'connected_gene': 'FCER2', 'score': 12.28}, {'connected_gene': 'CLEC4G', 'score': 11.89}, {'connected_gene': 'CLEC4GP1', 'score': 9.52}, {'connected_gene': 'LOC105372263', 'score': 0.77}, {'connected_gene': 'GC19P007785', 'score': 0.39}]
chr19	GH19I007749	7748855	7749124	0.65	[{'connected_gene': 'RPL21P129', 'score': 550.77}, {'connected_gene': 'GC19P007750', 'score': 550.77}, {'connected_gene': 'CD209', 'score': 550.77}]
chr19	GH19I007815	7815146	7816121	0.69	[{'connected_gene': 'EXOSC3P2', 'score': 550.77}, {'connected_gene': 'RPL21P129', 'score': 11.91}, {'connected_gene': 'CD209', 'score': 11.91}, {'connected_gene': 'CLEC4G', 'score': 11.64}, {'connected_gene': 'EVI5L', 'score': 7.34}]
chr19	GH19I007740	7740401	7741000	0.52	[{'connected_gene': 'LOC100129391', 'score': 550.77}, {'connected_gene': 'CD209', 'score': 0.44}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000301357	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810460], [7810736, 7810973], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810460], [7810736, 7810973], [7812351, 7812397]]
ENST00000315599	[[7804882, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812420]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
ENST00000394173	[[7807396, 7808126], [7808992, 7809105], [7809826, 7809978], [7810886, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812450]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810886, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
ENST00000593660	[[7807532, 7808126], [7808992, 7809105], [7809826, 7809978], [7810541, 7810973], [7812191, 7812397]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810541, 7810973], [7812191, 7812297]]
ENST00000601951	[[7807735, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812404]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812297]]
ENST00000315591	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812251], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812251], [7812351, 7812397]]
ENST00000593821	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7812351, 7812397]]
ENST00000394161	[[7807924, 7808126], [7808992, 7809079], [7810933, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809079], [7810933, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
ENST00000602261	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
ENST00000354397	[[7807924, 7808126], [7808992, 7809087], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809087], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
ENST00000204801	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812351, 7812397]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812351, 7812397]]
ENST00000601256	[[7808060, 7808126], [7809826, 7809978], [7810403, 7810973], [7812191, 7812397]]	[[7808060, 7808126], [7809826, 7809978], [7810403, 7810973], [7812191, 7812297]]
NR_026692	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812464]]	None
NM_021155	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
NM_001144897	[[7804878, 7808126], [7808992, 7809087], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809087], [7809826, 7809978], [7810403, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
NM_001144895	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
NM_001144899	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810886, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810886, 7810973], [7811345, 7811417], [7812191, 7812251], [7812351, 7812397]]
NM_001144896	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812251], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812191, 7812251], [7812351, 7812397]]
NM_001144894	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810403, 7810973], [7812351, 7812397]]
NM_001144893	[[7804878, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7812351, 7812464]]	[[7807924, 7808126], [7808992, 7809105], [7809826, 7809978], [7810679, 7810973], [7812351, 7812397]]