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
ENST00000261667	[[50273446, 50276034], [50276521, 50276616], [50279756, 50279919], [50280233, 50280305], [50280403, 50280508], [50283707, 50283836], [50285026, 50285158], [50293910, 50293955], [50296090, 50296260], [50296612, 50296699], [50299551, 50299637], [50306506, 50306602], [50306740, 50306793], [50306882, 50306912], [50307092, 50307182], [50321084, 50321129], [50366573, 50367057]]	[[50275935, 50276034], [50276521, 50276616], [50279756, 50279919], [50280233, 50280305], [50280403, 50280508], [50283707, 50283836], [50285026, 50285158], [50293910, 50293955], [50296090, 50296260], [50296612, 50296699], [50299551, 50299637], [50306506, 50306602], [50306740, 50306793], [50306882, 50306912], [50307092, 50307182], [50321084, 50321129], [50366573, 50366642]]
ENST00000436760	[[50275345, 50275663], [50275991, 50276034], [50276521, 50276616], [50279756, 50279888]]	[[50275658, 50275663], [50275991, 50276034], [50276521, 50276616], [50279756, 50279888]]
NM_002267	[[50273442, 50276034], [50276521, 50276616], [50279756, 50279919], [50280233, 50280305], [50280403, 50280508], [50283707, 50283836], [50285026, 50285158], [50293910, 50293955], [50296090, 50296260], [50296612, 50296699], [50299551, 50299637], [50306506, 50306602], [50306740, 50306793], [50306882, 50306912], [50307092, 50307182], [50321084, 50321129], [50366573, 50367057]]	[[50275935, 50276034], [50276521, 50276616], [50279756, 50279919], [50280233, 50280305], [50280403, 50280508], [50283707, 50283836], [50285026, 50285158], [50293910, 50293955], [50296090, 50296260], [50296612, 50296699], [50299551, 50299637], [50306506, 50306602], [50306740, 50306793], [50306882, 50306912], [50307092, 50307182], [50321084, 50321129], [50366573, 50366642]]

Promoter

Chrom	Start	End	Description
chr13	50366662	50366734	CAGE_peak_1_at_KPNA3_5end
chr13	50366782	50366800	CAGE_peak_3_at_KPNA3_5end
chr13	50366811	50366827	CAGE_peak_2_at_KPNA3_5end
chr13	50366833	50366852	CAGE_peak_4_at_KPNA3_5end
chr13	50367127	50367142	CAGE_peak_7_at_KPNA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I049856	49856871	49860394	1.13	[{'connected_gene': 'EBPL', 'score': 16.26}, {'connected_gene': 'SPRYD7', 'score': 7.86}, {'connected_gene': 'DLEU1', 'score': 6.09}, {'connected_gene': 'CTAGE10P', 'score': 5.03}, {'connected_gene': 'TRIM13', 'score': 4.52}, {'connected_gene': 'RNY4P30', 'score': 0.29}, {'connected_gene': 'KPNA3', 'score': 0.2}]
chr13	GH13I049809	49809847	49813554	1.02	[{'connected_gene': 'EBPL', 'score': 37.18}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'KPNA3', 'score': 0.37}, {'connected_gene': 'RNY4P30', 'score': 0.18}]
chr13	GH13I049710	49710808	49712222	0.59	[{'connected_gene': 'EBPL', 'score': 22.0}, {'connected_gene': 'KPNA3', 'score': 10.85}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'SETDB2', 'score': 4.25}, {'connected_gene': 'GC13P049698', 'score': 0.39}, {'connected_gene': 'ENSG00000276436', 'score': 0.18}]
chr13	GH13I049820	49820332	49821617	0.75	[{'connected_gene': 'EBPL', 'score': 32.78}, {'connected_gene': 'KPNA3', 'score': 11.91}, {'connected_gene': 'RCBTB1', 'score': 5.09}, {'connected_gene': 'TRIM13', 'score': 4.68}, {'connected_gene': 'RNY4P30', 'score': 0.2}]
chr13	GH13I049814	49814152	49815767	0.56	[{'connected_gene': 'EBPL', 'score': 16.09}, {'connected_gene': 'KPNA3', 'score': 11.88}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'RNY4P30', 'score': 0.19}]
chr13	GH13I049827	49827586	49828340	0.2	[{'connected_gene': 'EBPL', 'score': 20.11}, {'connected_gene': 'KPNA3', 'score': 10.95}, {'connected_gene': 'RNY4P30', 'score': 0.21}]
chr13	GH13I049837	49837831	49839325	0.54	[{'connected_gene': 'EBPL', 'score': 15.37}, {'connected_gene': 'KPNA3', 'score': 0.25}, {'connected_gene': 'RNY4P30', 'score': 0.23}]
chr13	GH13I049806	49806185	49806334	0.75	[{'connected_gene': 'EBPL', 'score': 17.53}, {'connected_gene': 'KPNA3', 'score': 0.39}, {'connected_gene': 'RNY4P30', 'score': 0.18}]
chr13	GH13I049649	49649308	49653468	0.83	[{'connected_gene': 'EBPL', 'score': 28.28}, {'connected_gene': 'ARL11', 'score': 13.05}, {'connected_gene': 'KPNA3', 'score': 10.96}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'RCBTB1', 'score': 5.97}, {'connected_gene': 'GC13M049652', 'score': 0.77}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I049453	49453294	49455321	0.92	[{'connected_gene': 'SETDB2', 'score': 14.8}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'KPNA3', 'score': 9.36}, {'connected_gene': 'RCBTB1', 'score': 4.85}, {'connected_gene': 'CAB39L', 'score': 0.39}, {'connected_gene': 'SNRPGP14', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13	GH13I049847	49847601	49848579	1.11	[{'connected_gene': 'SETDB2', 'score': 15.01}, {'connected_gene': 'TRIM13', 'score': 10.03}, {'connected_gene': 'DLEU1', 'score': 6.25}, {'connected_gene': 'EBPL', 'score': 5.04}, {'connected_gene': 'RNY4P30', 'score': 0.26}, {'connected_gene': 'KPNA3', 'score': 0.22}]
chr13	GH13I050115	50115335	50115839	0.38	[{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.96}, {'connected_gene': 'DLEU1', 'score': 12.37}, {'connected_gene': 'KCNRG', 'score': 11.63}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13	GH13I049960	49960260	49960532	0.26	[{'connected_gene': 'SPRYD7', 'score': 11.8}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'KPNA3', 'score': 9.34}, {'connected_gene': 'GC13P049955', 'score': 0.44}, {'connected_gene': 'GC13P049980', 'score': 0.37}]
chr13	GH13I049640	49640976	49644200	1.31	[{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13	GH13I049790	49790706	49794054	2.05	[{'connected_gene': 'KPNA3', 'score': 556.01}, {'connected_gene': 'ENSG00000276436', 'score': 550.77}, {'connected_gene': 'EBPL', 'score': 26.25}, {'connected_gene': 'SPRYD7', 'score': 6.68}, {'connected_gene': 'SETDB2', 'score': 5.19}, {'connected_gene': 'DLEU1', 'score': 5.02}, {'connected_gene': 'GC13P049698', 'score': 0.16}]
chr13	GH13I050243	50243798	50246016	1.49	[{'connected_gene': 'KPNA3', 'score': 1.17}, {'connected_gene': 'GC13P050248', 'score': 0.77}, {'connected_gene': 'GC13P050224', 'score': 0.34}, {'connected_gene': 'DLEU1', 'score': 0.1}]
chr13	GH13I049840	49840565	49840714	0.2	[{'connected_gene': 'KPNA3', 'score': 0.25}, {'connected_gene': 'RNY4P30', 'score': 0.25}]
chr13	GH13I050111	50111060	50113155	0.38	[{'connected_gene': 'DLEU1', 'score': 12.57}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.7}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'EBPL', 'score': 8.4}, {'connected_gene': 'ENSG00000273541', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13	GH13I049669	49669800	49670200	0.92	[{'connected_gene': 'GC13P049668', 'score': 550.77}, {'connected_gene': 'EBPL', 'score': 16.02}, {'connected_gene': 'KPNA3', 'score': 8.55}, {'connected_gene': 'GC13P049655', 'score': 0.39}]
chr13	GH13I049615	49615388	49617200	0.4	[{'connected_gene': 'GC13P049617', 'score': 550.77}, {'connected_gene': 'RCBTB1', 'score': 19.17}, {'connected_gene': 'EBPL', 'score': 10.73}, {'connected_gene': 'KPNA3', 'score': 10.18}, {'connected_gene': 'LOC105370204', 'score': 0.77}]
chr13	GH13I049653	49653585	49653772	0.31	[{'connected_gene': 'GC13M049652', 'score': 550.77}, {'connected_gene': 'GC13P049655', 'score': 550.77}, {'connected_gene': 'ARL11', 'score': 13.03}, {'connected_gene': 'EBPL', 'score': 11.76}, {'connected_gene': 'KPNA3', 'score': 10.7}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13	GH13I049619	49619011	49620718	0.74	[{'connected_gene': 'GC13P049618', 'score': 550.77}, {'connected_gene': 'ENSG00000176882', 'score': 550.77}, {'connected_gene': 'LOC105370204', 'score': 550.77}, {'connected_gene': 'RCBTB1', 'score': 25.16}, {'connected_gene': 'ARL11', 'score': 15.53}, {'connected_gene': 'EBPL', 'score': 10.74}, {'connected_gene': 'KPNA3', 'score': 10.18}]
chr13	GH13I049951	49951446	49955979	0.6	[{'connected_gene': 'GC13P049953', 'score': 550.77}, {'connected_gene': 'GC13P049954', 'score': 550.77}, {'connected_gene': 'GC13P049951', 'score': 550.77}, {'connected_gene': 'GC13P049955', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 11.55}, {'connected_gene': 'TRIM13', 'score': 10.27}, {'connected_gene': 'KPNA3', 'score': 10.2}, {'connected_gene': 'EBPL', 'score': 8.47}, {'connected_gene': 'SPRYD7', 'score': 0.26}]