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
ENST00000474629	[[122399464, 122399917], [122404031, 122404165], [122405926, 122405960], [122411147, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122439235], [122446658, 122446833], [122447154, 122449687]]	[[122399730, 122399917], [122404031, 122404165], [122405926, 122405960], [122411147, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122439235], [122446658, 122446833], [122447154, 122447444]]
ENST00000460683	[[122411269, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122440500], [122446658, 122446833], [122447154, 122449687]]	[[122411269, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122439337]]
ENST00000474669	[[122419372, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122441494]]	None
ENST00000494811	[[122399705, 122399917], [122404031, 122404165], [122405926, 122405960], [122414272, 122414473]]	[[122399705, 122399917], [122404031, 122404165], [122405926, 122405960], [122414272, 122414473]]
ENST00000483611	[[122405605, 122405960], [122411147, 122411186]]	None
ENST00000475640	[[122437230, 122437805], [122439101, 122439235], [122439674, 122439815]]	None
NM_017554	[[122399671, 122399917], [122404031, 122404165], [122405926, 122405960], [122411147, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122439235], [122446658, 122446833], [122447154, 122449687]]	[[122399730, 122399917], [122404031, 122404165], [122405926, 122405960], [122411147, 122411390], [122414272, 122414509], [122418236, 122420482], [122422588, 122422825], [122423373, 122423595], [122427036, 122427115], [122432270, 122432420], [122432718, 122432781], [122433108, 122433276], [122436917, 122437124], [122437205, 122437805], [122439101, 122439235], [122446658, 122446833], [122447154, 122447444]]

Promoter

Chrom	Start	End	Description
chr3	122399444	122399464	CAGE_peak_4_at_PARP14_5end
chr3	122399581	122399599	CAGE_peak_3_at_PARP14_5end
chr3	122399656	122399694	CAGE_peak_1_at_PARP14_5end
chr3	122399697	122399719	CAGE_peak_2_at_PARP14_5end
chr3	122399875	122399886	CAGE_peak_7_at_PARP14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I122797	122797371	122797589	0.45	[{'connected_gene': 'DIRC2', 'score': 11.83}, {'connected_gene': 'HSPBAP1', 'score': 10.39}, {'connected_gene': 'PARP14', 'score': 6.47}, {'connected_gene': 'PARP9', 'score': 5.4}, {'connected_gene': 'DTX3L', 'score': 5.33}, {'connected_gene': 'CSTA', 'score': 3.05}, {'connected_gene': 'KPNA1', 'score': 1.5}, {'connected_gene': 'GC03P122849', 'score': 0.23}]
chr3	GH03I122766	122766442	122770200	1.02	[{'connected_gene': 'DIRC2', 'score': 50.68}, {'connected_gene': 'HSPBAP1', 'score': 42.84}, {'connected_gene': 'PARP14', 'score': 31.06}, {'connected_gene': 'PARP9', 'score': 10.84}, {'connected_gene': 'DTX3L', 'score': 10.42}, {'connected_gene': 'LINC02035', 'score': 9.09}, {'connected_gene': 'CSTA', 'score': 3.95}, {'connected_gene': 'KPNA1', 'score': 3.36}]
chr3	GH03I122746	122746149	122746313	0.34	[{'connected_gene': 'DIRC2', 'score': 12.25}, {'connected_gene': 'HSPBAP1', 'score': 11.84}, {'connected_gene': 'DTX3L', 'score': 9.71}, {'connected_gene': 'PARP14', 'score': 8.2}, {'connected_gene': 'PARP9', 'score': 7.57}]
chr3	GH03I122232	122232394	122234400	1.23	[{'connected_gene': 'CASR', 'score': 11.19}, {'connected_gene': 'IQCB1', 'score': 4.58}, {'connected_gene': 'CD86', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 2.92}, {'connected_gene': 'PARP9', 'score': 2.4}, {'connected_gene': 'DTX3L', 'score': 1.97}, {'connected_gene': 'KPNA1', 'score': 1.85}, {'connected_gene': 'GOLGB1', 'score': 1.81}, {'connected_gene': 'CSTA', 'score': 1.65}, {'connected_gene': 'HNRNPA1P23', 'score': 0.18}]
chr3	GH03I122245	122245528	122248308	1.08	[{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3	GH03I122562	122562968	122565971	2.2	[{'connected_gene': 'PARP9', 'score': 550.77}, {'connected_gene': 'DTX3L', 'score': 550.77}, {'connected_gene': 'LOC102723582', 'score': 14.08}, {'connected_gene': 'PARP14', 'score': 12.11}, {'connected_gene': 'WDR5B', 'score': 11.32}, {'connected_gene': 'KPNA1', 'score': 11.17}]
chr3	GH03I122792	122792480	122796371	2.27	[{'connected_gene': 'HSPBAP1', 'score': 558.98}, {'connected_gene': 'DIRC2', 'score': 558.07}, {'connected_gene': 'ENSG00000273454', 'score': 24.14}, {'connected_gene': 'IQCB1', 'score': 23.0}, {'connected_gene': 'PARP14', 'score': 13.75}, {'connected_gene': 'SEC22A', 'score': 13.35}, {'connected_gene': 'LOC102723582', 'score': 11.3}, {'connected_gene': 'LINC02035', 'score': 9.31}]
chr3	GH03I122689	122689125	122691838	1.03	[{'connected_gene': 'HSPBAP1', 'score': 18.33}, {'connected_gene': 'DIRC2', 'score': 17.4}, {'connected_gene': 'PARP14', 'score': 15.3}, {'connected_gene': 'LINC02035', 'score': 5.44}]
chr3	GH03I122754	122754982	122755609	0.63	[{'connected_gene': 'HSPBAP1', 'score': 23.1}, {'connected_gene': 'DIRC2', 'score': 18.83}, {'connected_gene': 'PARP14', 'score': 10.19}]
chr3	GH03I122694	122694677	122695213	0.8	[{'connected_gene': 'HSPBAP1', 'score': 16.64}, {'connected_gene': 'DIRC2', 'score': 10.13}, {'connected_gene': 'LINC02035', 'score': 6.78}, {'connected_gene': 'PARP14', 'score': 0.39}]
chr3	GH03I122758	122758601	122760307	0.78	[{'connected_gene': 'HSPBAP1', 'score': 22.86}, {'connected_gene': 'DIRC2', 'score': 17.89}, {'connected_gene': 'LINC02035', 'score': 9.12}, {'connected_gene': 'PARP14', 'score': 6.39}]
chr3	GH03I122744	122744830	122746099	0.79	[{'connected_gene': 'HSPBAP1', 'score': 11.37}, {'connected_gene': 'PARP14', 'score': 9.82}, {'connected_gene': 'DIRC2', 'score': 0.25}]
chr3	GH03I122760	122760565	122762400	1.03	[{'connected_gene': 'HSPBAP1', 'score': 11.76}, {'connected_gene': 'PARP14', 'score': 10.92}, {'connected_gene': 'DIRC2', 'score': 7.54}]
chr3	GH03I122697	122697634	122698909	0.66	[{'connected_gene': 'HSPBAP1', 'score': 21.18}, {'connected_gene': 'PARP14', 'score': 11.78}, {'connected_gene': 'DIRC2', 'score': 10.13}]
chr3	GH03I122788	122788401	122790742	0.86	[{'connected_gene': 'HSPBAP1', 'score': 13.81}, {'connected_gene': 'PARP14', 'score': 10.72}, {'connected_gene': 'LINC02035', 'score': 9.42}, {'connected_gene': 'DIRC2', 'score': 0.44}]
chr3	GH03I122673	122673077	122676668	0.2	[{'connected_gene': 'HSPBAP1', 'score': 9.11}, {'connected_gene': 'PARP14', 'score': 6.28}, {'connected_gene': 'LINC02035', 'score': 5.41}, {'connected_gene': 'EIF4BP8', 'score': 0.39}]
chr3	GH03I122770	122770401	122770912	0.68	[{'connected_gene': 'PARP14', 'score': 22.63}, {'connected_gene': 'DIRC2', 'score': 16.31}, {'connected_gene': 'HSPBAP1', 'score': 15.29}, {'connected_gene': 'PARP9', 'score': 6.36}, {'connected_gene': 'DTX3L', 'score': 6.22}, {'connected_gene': 'CSTA', 'score': 3.36}, {'connected_gene': 'KPNA1', 'score': 1.51}]
chr3	GH03I123154	123154440	123154641	0.28	[{'connected_gene': 'PARP14', 'score': 9.36}, {'connected_gene': 'DIRC2', 'score': 2.63}, {'connected_gene': 'HSPBAP1', 'score': 1.92}, {'connected_gene': 'MIR7110', 'score': 0.44}, {'connected_gene': 'GC03P123071', 'score': 0.18}, {'connected_gene': 'PDIA5', 'score': 0.17}]
chr3	GH03I122712	122712540	122724640	0.52	[{'connected_gene': 'PARP14', 'score': 32.85}, {'connected_gene': 'HSPBAP1', 'score': 21.77}, {'connected_gene': 'DIRC2', 'score': 18.14}, {'connected_gene': 'LINC02035', 'score': 9.05}]
chr3	GH03I122784	122784021	122786841	0.51	[{'connected_gene': 'PARP14', 'score': 10.73}, {'connected_gene': 'HSPBAP1', 'score': 10.38}, {'connected_gene': 'DIRC2', 'score': 7.68}]
chr3	GH03I122773	122773247	122775034	1.36	[{'connected_gene': 'PARP14', 'score': 18.67}, {'connected_gene': 'HSPBAP1', 'score': 13.22}, {'connected_gene': 'DTX3L', 'score': 11.67}, {'connected_gene': 'PARP9', 'score': 10.13}, {'connected_gene': 'DIRC2', 'score': 9.87}, {'connected_gene': 'CSTA', 'score': 3.04}, {'connected_gene': 'KPNA1', 'score': 1.87}]
chr3	GH03I122725	122725271	122732892	0.71	[{'connected_gene': 'PARP14', 'score': 21.87}, {'connected_gene': 'HSPBAP1', 'score': 11.25}, {'connected_gene': 'LINC02035', 'score': 8.96}, {'connected_gene': 'DIRC2', 'score': 7.67}]
chr3	GH03I122798	122798887	122801731	0.43	[{'connected_gene': 'PARP14', 'score': 13.74}, {'connected_gene': 'HSPBAP1', 'score': 11.71}, {'connected_gene': 'LINC02035', 'score': 8.76}, {'connected_gene': 'DIRC2', 'score': 0.44}, {'connected_gene': 'GC03P122849', 'score': 0.25}]
chr3	GH03I122572	122572731	122574061	1.36	[{'connected_gene': 'PARP14', 'score': 11.98}, {'connected_gene': 'ENSG00000273454', 'score': 10.84}, {'connected_gene': 'PARP15', 'score': 10.66}, {'connected_gene': 'PARP9', 'score': 0.44}, {'connected_gene': 'DTX3L', 'score': 0.44}]
chr3	GH03I122678	122678325	122684270	2.66	[{'connected_gene': 'PARP14', 'score': 574.37}, {'connected_gene': 'DTX3L', 'score': 18.81}, {'connected_gene': 'PARP9', 'score': 14.59}, {'connected_gene': 'HSPBAP1', 'score': 9.8}, {'connected_gene': 'DIRC2', 'score': 8.06}, {'connected_gene': 'LINC02035', 'score': 5.29}, {'connected_gene': 'CSTA', 'score': 3.1}, {'connected_gene': 'KPNA1', 'score': 1.46}]
chr3	GH03I122589	122589314	122589463	0.97	[{'connected_gene': 'PARP14', 'score': 11.36}, {'connected_gene': 'LOC100421636', 'score': 0.44}, {'connected_gene': 'PARP15', 'score': 0.39}]
chr3	GH03I122533	122533495	122534568	0.83	[{'connected_gene': 'WDR5B', 'score': 22.43}, {'connected_gene': 'LOC102723582', 'score': 13.88}, {'connected_gene': 'PARP14', 'score': 11.54}, {'connected_gene': 'LOC105374071', 'score': 0.37}, {'connected_gene': 'PARP9', 'score': 0.29}, {'connected_gene': 'DTX3L', 'score': 0.29}]
chr3	GH03I122409	122409001	122410200	0.51	[{'connected_gene': 'WDR5B', 'score': 20.12}, {'connected_gene': 'LOC102723582', 'score': 12.72}, {'connected_gene': 'FAM162A', 'score': 10.77}, {'connected_gene': 'CCDC58', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 9.84}]
chr3	GH03I122931	122931026	122935098	0.64	[{'connected_gene': 'SEMA5B', 'score': 18.97}, {'connected_gene': 'PARP14', 'score': 7.56}, {'connected_gene': 'HSPBAP1', 'score': 6.25}, {'connected_gene': 'DIRC2', 'score': 5.31}, {'connected_gene': 'LINC02035', 'score': 0.25}, {'connected_gene': 'GC03P122991', 'score': 0.22}]
chr3	GH03I122892	122892908	122894570	0.83	[{'connected_gene': 'SEMA5B', 'score': 10.53}, {'connected_gene': 'LINC02035', 'score': 7.37}, {'connected_gene': 'PARP14', 'score': 6.93}, {'connected_gene': 'HSPBAP1', 'score': 6.8}, {'connected_gene': 'DIRC2', 'score': 4.34}, {'connected_gene': 'GC03P122991', 'score': 0.15}]
chr3	GH03I122468	122468837	122469727	0.57	[{'connected_gene': 'KPNA1', 'score': 11.64}, {'connected_gene': 'PARP14', 'score': 11.26}, {'connected_gene': 'ENSG00000275348', 'score': 0.39}, {'connected_gene': 'ENSG00000242531', 'score': 0.23}]
chr3	GH03I122660	122660824	122661115	0.49	[{'connected_gene': 'EIF4BP8', 'score': 550.77}, {'connected_gene': 'PARP14', 'score': 0.37}]
chr3	GH03I122662	122662001	122662200	0.38	[{'connected_gene': 'EIF4BP8', 'score': 550.77}, {'connected_gene': 'PARP14', 'score': 0.37}]
chr3	GH03I122645	122645946	122647489	1	[{'connected_gene': 'GOLGB1', 'score': 68.73}, {'connected_gene': 'IQCB1', 'score': 67.64}, {'connected_gene': 'SEC22A', 'score': 61.15}, {'connected_gene': 'LOC102723582', 'score': 42.33}, {'connected_gene': 'ENSG00000273454', 'score': 15.1}, {'connected_gene': 'PARP14', 'score': 12.06}, {'connected_gene': 'EIF4BP8', 'score': 0.39}, {'connected_gene': 'PIR41127', 'score': 0.29}]
chr3	GH03I122575	122575229	122579662	2.26	[{'connected_gene': 'PARP15', 'score': 570.05}, {'connected_gene': 'GOLGB1', 'score': 11.32}, {'connected_gene': 'SEC22A', 'score': 10.35}, {'connected_gene': 'LOC102723582', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 3.44}, {'connected_gene': 'DIRC2', 'score': 2.58}, {'connected_gene': 'PARP9', 'score': 2.27}, {'connected_gene': 'DTX3L', 'score': 1.91}, {'connected_gene': 'HSPBAP1', 'score': 1.52}, {'connected_gene': 'CD86', 'score': 1.11}]
chr3	GH03I122313	122313907	122315436	0.88	[{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3	GH03I122294	122294401	122295800	0.96	[{'connected_gene': 'CSTA', 'score': 13.0}, {'connected_gene': 'WDR5B', 'score': 9.62}, {'connected_gene': 'LOC102723582', 'score': 8.48}, {'connected_gene': 'PARP14', 'score': 4.34}, {'connected_gene': 'PARP9', 'score': 2.72}, {'connected_gene': 'CD86', 'score': 2.61}, {'connected_gene': 'DIRC2', 'score': 2.57}, {'connected_gene': 'DTX3L', 'score': 2.46}, {'connected_gene': 'HSPBAP1', 'score': 1.96}, {'connected_gene': 'HNRNPA1P23', 'score': 0.34}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3	GH03I122314	122313429	122313581	0.42	[{'connected_gene': 'CSTA', 'score': 13.04}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.73}, {'connected_gene': 'PARP14', 'score': 8.53}, {'connected_gene': 'PARP9', 'score': 3.36}, {'connected_gene': 'DTX3L', 'score': 3.23}, {'connected_gene': 'DIRC2', 'score': 1.27}, {'connected_gene': 'KPNA1', 'score': 1.19}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3	GH03I123377	123377904	123382487	0.46	[{'connected_gene': 'ADCY5', 'score': 17.62}, {'connected_gene': 'SEC22A', 'score': 9.12}, {'connected_gene': 'PARP14', 'score': 7.1}, {'connected_gene': 'PARP9', 'score': 5.17}, {'connected_gene': 'GC03P123375', 'score': 0.77}]
chr3	GH03I122513	122513279	122515543	2.03	[{'connected_gene': 'LOC105374071', 'score': 550.77}, {'connected_gene': 'KPNA1', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 22.93}, {'connected_gene': 'LOC102723582', 'score': 15.5}, {'connected_gene': 'ENSG00000273454', 'score': 15.09}, {'connected_gene': 'PARP14', 'score': 11.61}, {'connected_gene': 'GC03P122484', 'score': 0.31}]
chr3	GH03I122322	122322085	122323183	1.09	[{'connected_gene': 'LOC102723582', 'score': 5.1}, {'connected_gene': 'PARP14', 'score': 4.6}, {'connected_gene': 'CSTA', 'score': 2.49}, {'connected_gene': 'PARP9', 'score': 1.94}, {'connected_gene': 'DTX3L', 'score': 1.59}, {'connected_gene': 'CD86', 'score': 1.5}, {'connected_gene': 'HNRNPA1P23', 'score': 0.44}]
chr3	GH03I122470	122470201	122470400	0.31	[{'connected_gene': 'LOC102723582', 'score': 13.41}, {'connected_gene': 'WDR5B', 'score': 11.8}, {'connected_gene': 'KPNA1', 'score': 11.66}, {'connected_gene': 'PARP14', 'score': 11.26}, {'connected_gene': 'ENSG00000275348', 'score': 0.39}, {'connected_gene': 'ENSG00000242531', 'score': 0.23}]
chr3	GH03I122854	122854636	122855996	0.43	[{'connected_gene': 'LINC02035', 'score': 8.76}, {'connected_gene': 'DIRC2', 'score': 7.67}, {'connected_gene': 'PARP14', 'score': 6.41}, {'connected_gene': 'GC03P122849', 'score': 0.44}]
chr3	GH03I122889	122889556	122891165	0.69	[{'connected_gene': 'LINC02035', 'score': 8.15}, {'connected_gene': 'DIRC2', 'score': 7.61}, {'connected_gene': 'PARP14', 'score': 4.36}, {'connected_gene': 'GC03P122991', 'score': 0.15}]
chr3	GH03I122668	122668954	122670228	0.67	[{'connected_gene': 'LINC02035', 'score': 5.54}, {'connected_gene': 'PARP14', 'score': 5.36}, {'connected_gene': 'EIF4BP8', 'score': 0.44}]