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
ENST00000307439	[[74437266, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486004, 74486265]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477512]]
ENST00000342081	[[74438861, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486155, 74486348]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486155, 74486217]]
ENST00000395777	[[74440287, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486004, 74486129]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477512]]
ENST00000335049	[[74441569, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74481607, 74481653], [74486155, 74486217]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74481607, 74481653], [74486155, 74486217]]
ENST00000512591	[[74469795, 74470304], [74477447, 74477546], [74486004, 74486134]]	None
NM_177532	[[74437266, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486004, 74486287]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477512]]
NM_001270391	[[74437266, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486004, 74486287]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477512]]
NM_001270392	[[74437266, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74481607, 74481653], [74486155, 74486348]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74481607, 74481653], [74486155, 74486217]]
NM_201431	[[74437266, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486155, 74486348]]	[[74441951, 74442027], [74442126, 74442224], [74442329, 74442448], [74447533, 74447585], [74447905, 74448007], [74450896, 74451081], [74453556, 74453651], [74459167, 74459310], [74464356, 74464435], [74477447, 74477546], [74486155, 74486217]]

Promoter

Chrom	Start	End	Description
chr4	74486068	74486079	CAGE_peak_7_at_RASSF6_5end
chr4	74486082	74486085	CAGE_peak_9_at_RASSF6_5end
chr4	74486090	74486106	CAGE_peak_2_at_RASSF6_5end
chr4	74486109	74486166	CAGE_peak_1_at_RASSF6_5end
chr4	74486249	74486273	CAGE_peak_4_at_RASSF6_5end
chr4	74486279	74486297	CAGE_peak_5_at_RASSF6_5end
chr4	74486308	74486330	CAGE_peak_3_at_RASSF6_5end
chr4	74486332	74486341	CAGE_peak_6_at_RASSF6_5end
chr4	74486347	74486348	CAGE_peak_10_at_RASSF6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I073668	73668634	73670636	1.09	[{'connected_gene': 'PF4V1', 'score': 10.89}, {'connected_gene': 'MTHFD2L', 'score': 10.58}, {'connected_gene': 'PPBP', 'score': 4.72}, {'connected_gene': 'LOC105377272', 'score': 0.26}, {'connected_gene': 'RASSF6', 'score': 0.25}]
chr4	GH04I073674	73674371	73678067	0.9	[{'connected_gene': 'PF4V1', 'score': 11.27}, {'connected_gene': 'CXCL8', 'score': 10.85}, {'connected_gene': 'CXCL6', 'score': 4.7}, {'connected_gene': 'RASSF6', 'score': 4.62}, {'connected_gene': 'LOC105377272', 'score': 0.29}]
chr4	GH04I073672	73672542	73674167	0.43	[{'connected_gene': 'PF4V1', 'score': 11.27}, {'connected_gene': 'CXCL8', 'score': 10.84}, {'connected_gene': 'MTHFD2L', 'score': 10.64}, {'connected_gene': 'RASSF6', 'score': 4.86}, {'connected_gene': 'CXCL6', 'score': 4.69}, {'connected_gene': 'LOC105377272', 'score': 0.28}]
chr4	GH04I073679	73679713	73680226	0.56	[{'connected_gene': 'PF4V1', 'score': 11.27}, {'connected_gene': 'CXCL8', 'score': 10.85}, {'connected_gene': 'LOC105377272', 'score': 4.44}, {'connected_gene': 'CXCL6', 'score': 1.59}, {'connected_gene': 'CXCL1', 'score': 1.53}, {'connected_gene': 'RASSF6', 'score': 0.22}]
chr4	GH04I073697	73697951	73699232	0.78	[{'connected_gene': 'PF4V1', 'score': 10.83}, {'connected_gene': 'CXCL8', 'score': 10.71}, {'connected_gene': 'LOC105377272', 'score': 0.39}, {'connected_gene': 'RASSF6', 'score': 0.18}]
chr4	GH04I073701	73701000	73702103	0.43	[{'connected_gene': 'PF4V1', 'score': 10.83}, {'connected_gene': 'LOC105377272', 'score': 5.51}, {'connected_gene': 'RASSF6', 'score': 0.18}]
chr4	GH04I073602	73602735	73605199	1.25	[{'connected_gene': 'MTHFD2L', 'score': 9.86}, {'connected_gene': 'RASSF6', 'score': 0.37}, {'connected_gene': 'ENSG00000249970', 'score': 0.21}]
chr4	GH04I073573	73573824	73573993	0.87	[{'connected_gene': 'MTHFD2L', 'score': 9.29}, {'connected_gene': 'ENSG00000249970', 'score': 0.29}, {'connected_gene': 'RASSF6', 'score': 0.25}]
chr4	GH04I073612	73612721	73613842	0.2	[{'connected_gene': 'MTHFD2L', 'score': 9.53}, {'connected_gene': 'RASSF6', 'score': 0.44}, {'connected_gene': 'ENSG00000249970', 'score': 0.2}]
chr4	GH04I073611	73611291	73611506	0.51	[{'connected_gene': 'MTHFD2L', 'score': 9.53}, {'connected_gene': 'RASSF6', 'score': 0.44}, {'connected_gene': 'ENSG00000249970', 'score': 0.2}]
chr4	GH04I073592	73592067	73592984	0.2	[{'connected_gene': 'MTHFD2L', 'score': 10.06}, {'connected_gene': 'RASSF6', 'score': 0.31}, {'connected_gene': 'ENSG00000249970', 'score': 0.25}]
chr4	GH04I073685	73685418	73686320	0.2	[{'connected_gene': 'CXCL8', 'score': 10.33}, {'connected_gene': 'PF4V1', 'score': 10.33}, {'connected_gene': 'LOC105377272', 'score': 0.34}, {'connected_gene': 'RASSF6', 'score': 0.2}]
chr4	GH04I073691	73691761	73693441	0.49	[{'connected_gene': 'CXCL8', 'score': 10.21}, {'connected_gene': 'MTHFD2L', 'score': 9.61}, {'connected_gene': 'LOC105377272', 'score': 0.37}, {'connected_gene': 'RASSF6', 'score': 0.19}]
chr4	GH04I073689	73689349	73691009	0.38	[{'connected_gene': 'CXCL8', 'score': 10.19}, {'connected_gene': 'MTHFD2L', 'score': 9.9}, {'connected_gene': 'LOC105377272', 'score': 4.65}, {'connected_gene': 'RASSF6', 'score': 0.2}]
chr4	GH04I073682	73682249	73684435	0.96	[{'connected_gene': 'CXCL8', 'score': 47.92}, {'connected_gene': 'CXCL3', 'score': 32.05}, {'connected_gene': 'CXCL2', 'score': 18.44}, {'connected_gene': 'MTHFD2L', 'score': 14.01}, {'connected_gene': 'PF4V1', 'score': 11.1}, {'connected_gene': 'LOC105377272', 'score': 5.45}, {'connected_gene': 'CXCL5', 'score': 4.21}, {'connected_gene': 'RASSF6', 'score': 0.21}]
chr4	GH04I073702	73702794	73706602	1.72	[{'connected_gene': 'CXCL8', 'score': 66.38}, {'connected_gene': 'CXCL2', 'score': 34.96}, {'connected_gene': 'CXCL3', 'score': 32.66}, {'connected_gene': 'ANKRD17', 'score': 13.37}, {'connected_gene': 'HMGA1P2', 'score': 12.43}, {'connected_gene': 'PF4V1', 'score': 10.84}, {'connected_gene': 'LOC105377272', 'score': 5.51}, {'connected_gene': 'CXCL5', 'score': 4.32}, {'connected_gene': 'MTHFD2L', 'score': 2.95}, {'connected_gene': 'CXCL1', 'score': 2.02}, {'connected_gene': 'RASSF6', 'score': 0.18}]
chr4	GH04I073660	73660755	73664037	1.43	[{'connected_gene': 'CXCL3', 'score': 53.56}, {'connected_gene': 'CXCL2', 'score': 51.96}, {'connected_gene': 'CXCL8', 'score': 43.29}, {'connected_gene': 'RASSF6', 'score': 15.54}, {'connected_gene': 'MTHFD2L', 'score': 13.45}, {'connected_gene': 'PF4V1', 'score': 10.85}, {'connected_gene': 'LOC105377272', 'score': 0.25}]
chr4	GH04I074319	74319412	74321927	1.37	[{'connected_gene': 'EREG', 'score': 18.08}, {'connected_gene': 'EPGN', 'score': 7.38}, {'connected_gene': 'CXCL2', 'score': 4.9}, {'connected_gene': 'RASSF6', 'score': 4.54}, {'connected_gene': 'GC04M074313', 'score': 0.44}, {'connected_gene': 'LOC105377276', 'score': 0.44}]
chr4	GH04I073595	73595622	73596308	0.49	[{'connected_gene': 'RASSF6', 'score': 12.14}, {'connected_gene': 'PF4V1', 'score': 9.74}, {'connected_gene': 'ENSG00000249970', 'score': 0.23}]
chr4	GH04I073598	73598427	73601958	1.57	[{'connected_gene': 'RASSF6', 'score': 15.16}, {'connected_gene': 'MTHFD2L', 'score': 9.86}, {'connected_gene': 'PF4V1', 'score': 9.74}, {'connected_gene': 'ENSG00000249970', 'score': 0.22}]
chr4	GH04I073588	73588687	73591273	1.08	[{'connected_gene': 'RASSF6', 'score': 16.81}, {'connected_gene': 'MTHFD2L', 'score': 9.85}, {'connected_gene': 'ANKRD17', 'score': 9.84}, {'connected_gene': 'ENSG00000250220', 'score': 9.84}, {'connected_gene': 'ENSG00000221639', 'score': 9.83}, {'connected_gene': 'ENSG00000249970', 'score': 0.25}]
chr4	GH04I073605	73605375	73611270	1.46	[{'connected_gene': 'RASSF6', 'score': 9.9}, {'connected_gene': 'MTHFD2L', 'score': 9.85}, {'connected_gene': 'ENSG00000249970', 'score': 0.21}]
chr4	GH04I073593	73593197	73595232	0.54	[{'connected_gene': 'RASSF6', 'score': 15.72}, {'connected_gene': 'MTHFD2L', 'score': 10.07}, {'connected_gene': 'ENSG00000249970', 'score': 0.23}]
chr4	GH04I073650	73650775	73650805	0.42	[{'connected_gene': 'RASSF6', 'score': 0.29}, {'connected_gene': 'LOC105377272', 'score': 0.22}]
chr4	GH04I073649	73649428	73650671	0.4	[{'connected_gene': 'RASSF6', 'score': 7.84}, {'connected_gene': 'LOC105377272', 'score': 0.21}]
chr4	GH04I073630	73630436	73631641	0.2	[{'connected_gene': 'RASSF6', 'score': 0.39}, {'connected_gene': 'LOC105377272', 'score': 0.18}]
chr4	GH04I073653	73653600	73654033	0.9	[{'connected_gene': 'RASSF6', 'score': 0.29}, {'connected_gene': 'LOC105377272', 'score': 0.22}]
chr4	GH04I073615	73615204	73622378	2.29	[{'connected_gene': 'RASSF6', 'score': 557.44}, {'connected_gene': 'ENSG00000249970', 'score': 0.19}]
chr4	GH04I074326	74326943	74332664	1.59	[{'connected_gene': 'LOC105377276', 'score': 550.77}, {'connected_gene': 'EREG', 'score': 43.8}, {'connected_gene': 'CXCL2', 'score': 24.02}, {'connected_gene': 'CXCL3', 'score': 20.04}, {'connected_gene': 'RASSF6', 'score': 4.16}, {'connected_gene': 'MTHFD2L', 'score': 3.95}, {'connected_gene': 'GC04M074313', 'score': 0.37}]
chr4	GH04I073706	73706992	73709905	1.63	[{'connected_gene': 'LOC105377272', 'score': 555.84}, {'connected_gene': 'CXCL8', 'score': 22.91}, {'connected_gene': 'MTHFD2L', 'score': 9.68}, {'connected_gene': 'CXCL3', 'score': 4.17}, {'connected_gene': 'CXCL2', 'score': 3.51}, {'connected_gene': 'ANKRD17', 'score': 2.72}, {'connected_gene': 'RASSF6', 'score': 0.17}]