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
ENST00000392872	[[104359581, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104382652]]	[[104359815, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380868]]
ENST00000436021	[[104359599, 104359838], [104361631, 104361749], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376588]]	[[104370747, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376588]]
ENST00000545698	[[104359619, 104359838], [104373608, 104374251]]	None
ENST00000266775	[[104359622, 104359838], [104366737, 104366811], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380970]]	[[104366800, 104366811], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380868]]
ENST00000544861	[[104359622, 104359838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380972]]	[[104374691, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380868]]
ENST00000537100	[[104359663, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376597, 104376712], [104376913, 104376996], [104377072, 104377167]]	[[104359815, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376597, 104376712], [104376913, 104376996], [104377072, 104377167]]
ENST00000544060	[[104359680, 104359838], [104370695, 104370838], [104373608, 104374446]]	None
ENST00000542926	[[104373642, 104373850], [104374670, 104374740], [104376576, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380835]]	None
ENST00000540956	[[104373732, 104373850], [104374670, 104374740], [104376576, 104376712], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104381022]]	[[104373732, 104373850], [104374670, 104374740], [104376576, 104376712], [104377072, 104377082]]
ENST00000542036	[[104373732, 104373850], [104374670, 104374740], [104376576, 104376712], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104381022]]	[[104376627, 104376712], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380868]]
ENST00000536395	[[104380011, 104380243], [104380370, 104380803]]	None
NM_003211	[[104359592, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104382656]]	[[104359815, 104359838], [104370695, 104370838], [104373608, 104373850], [104374670, 104374740], [104376576, 104376712], [104376913, 104376996], [104377072, 104377167], [104378526, 104378698], [104379380, 104379506], [104380725, 104380868]]

Promoter

Chrom	Start	End	Description
chr12	104359576	104359601	CAGE_peak_3_at_TDG_5end
chr12	104359614	104359628	CAGE_peak_2_at_TDG_5end
chr12	104359641	104359689	CAGE_peak_1_at_TDG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I104048	104048486	104050947	1.72	[{'connected_gene': 'GLT8D2', 'score': 550.39}, {'connected_gene': 'TDG', 'score': 6.88}, {'connected_gene': 'C12orf73', 'score': 6.76}, {'connected_gene': 'ENSG00000257681', 'score': 5.61}, {'connected_gene': 'GC12M104037', 'score': 0.39}, {'connected_gene': 'PIR60229', 'score': 0.37}, {'connected_gene': 'GC12P104035', 'score': 0.37}, {'connected_gene': 'GC12M104050', 'score': 0.37}, {'connected_gene': 'GC12P104034', 'score': 0.37}, {'connected_gene': 'GC12P104033', 'score': 0.37}, {'connected_gene': 'GC12P104032', 'score': 0.37}, {'connected_gene': 'GC12P104022', 'score': 0.31}]
chr12	GH12I104215	104215163	104222310	2.52	[{'connected_gene': 'TXNRD1', 'score': 555.1}, {'connected_gene': 'TDG', 'score': 19.11}, {'connected_gene': 'WASHC4', 'score': 17.14}, {'connected_gene': 'RPL18AP3', 'score': 12.86}, {'connected_gene': 'EID3', 'score': 10.7}, {'connected_gene': 'CHST11', 'score': 1.25}]
chr12	GH12I104283	104283995	104290677	2.32	[{'connected_gene': 'TXNRD1', 'score': 550.19}, {'connected_gene': 'EID3', 'score': 43.72}, {'connected_gene': 'WASHC4', 'score': 12.48}, {'connected_gene': 'TDG', 'score': 12.27}, {'connected_gene': 'APPL2', 'score': 9.77}, {'connected_gene': 'ENSG00000257732', 'score': 0.44}]
chr12	GH12I103997	103997422	103998059	0.59	[{'connected_gene': 'C12orf73', 'score': 9.69}, {'connected_gene': 'TDG', 'score': 6.05}, {'connected_gene': 'GC12P104022', 'score': 0.34}, {'connected_gene': 'GLT8D2', 'score': 0.2}]
chr12	GH12I104006	104006457	104007652	0.38	[{'connected_gene': 'C12orf73', 'score': 6.9}, {'connected_gene': 'GC12P104022', 'score': 0.37}, {'connected_gene': 'TDG', 'score': 0.26}, {'connected_gene': 'GLT8D2', 'score': 0.22}]
chr12	GH12I103994	103994034	103994997	0.2	[{'connected_gene': 'C12orf73', 'score': 7.78}, {'connected_gene': 'GC12P104022', 'score': 0.31}, {'connected_gene': 'TDG', 'score': 0.31}, {'connected_gene': 'GLT8D2', 'score': 0.2}]
chr12	GH12I103955	103955644	103958248	2.12	[{'connected_gene': 'C12orf73', 'score': 563.56}, {'connected_gene': 'TDG', 'score': 14.89}, {'connected_gene': 'TTC41P', 'score': 12.37}, {'connected_gene': 'HSP90B1', 'score': 12.37}, {'connected_gene': 'GC12P103942', 'score': 0.39}]
chr12	GH12I103986	103986443	103987552	0.2	[{'connected_gene': 'C12orf73', 'score': 11.71}, {'connected_gene': 'TDG', 'score': 8.9}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I103968	103968836	103970167	0.59	[{'connected_gene': 'C12orf73', 'score': 13.22}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'TDG', 'score': 0.77}, {'connected_gene': 'GC12P104022', 'score': 0.23}]
chr12	GH12I104010	104010162	104012083	0.87	[{'connected_gene': 'TDG', 'score': 7.48}, {'connected_gene': 'GC12P104022', 'score': 0.39}, {'connected_gene': 'GLT8D2', 'score': 0.23}]
chr12	GH12I103998	103998676	104000060	0.2	[{'connected_gene': 'TDG', 'score': 8.49}, {'connected_gene': 'GC12P104022', 'score': 0.34}, {'connected_gene': 'GLT8D2', 'score': 0.21}]
chr12	GH12I103936	103936620	103936774	0.46	[{'connected_gene': 'TDG', 'score': 5.77}, {'connected_gene': 'C12orf73', 'score': 5.21}, {'connected_gene': 'HSP90B1', 'score': 0.44}, {'connected_gene': 'MIR3652', 'score': 0.44}, {'connected_gene': 'GC12P103942', 'score': 0.44}]
chr12	GH12I103964	103964391	103967512	2.11	[{'connected_gene': 'TDG', 'score': 600.16}, {'connected_gene': 'C12orf73', 'score': 563.48}, {'connected_gene': 'NFYB', 'score': 11.8}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'GC12P104022', 'score': 0.22}]
chr12	GH12I104057	104057803	104057932	0.6	[{'connected_gene': 'TDG', 'score': 9.96}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I104058	104058951	104059115	0.42	[{'connected_gene': 'TDG', 'score': 9.96}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'TXNRD1', 'score': 1.2}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I104180	104180543	104182991	0.94	[{'connected_gene': 'TDG', 'score': 10.24}, {'connected_gene': 'EID3', 'score': 9.15}, {'connected_gene': 'GC12P104172', 'score': 0.39}, {'connected_gene': 'TXNRD1', 'score': 0.29}]
chr12	GH12I103858	103858152	103861135	1.56	[{'connected_gene': 'TDG', 'score': 21.63}, {'connected_gene': 'TTC41P', 'score': 11.58}, {'connected_gene': 'C12orf73', 'score': 10.39}, {'connected_gene': 'NT5DC3', 'score': 5.26}, {'connected_gene': 'ENSG00000257327', 'score': 0.37}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I104611	104611401	104612743	0.74	[{'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.38}, {'connected_gene': 'CHST11', 'score': 9.93}, {'connected_gene': 'GC12M104604', 'score': 0.77}, {'connected_gene': 'PIR42556', 'score': 0.16}]
chr12	GH12I104585	104585709	104586721	0.86	[{'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.37}, {'connected_gene': 'GC12M104578', 'score': 0.77}, {'connected_gene': 'GC12P104580', 'score': 0.44}, {'connected_gene': 'CHST11', 'score': 0.12}]
chr12	GH12I104254	104254876	104256860	0.63	[{'connected_gene': 'TDG', 'score': 16.98}, {'connected_gene': 'WASHC4', 'score': 14.0}, {'connected_gene': 'NFYB', 'score': 6.06}, {'connected_gene': 'EID3', 'score': 5.72}, {'connected_gene': 'RPL18AP3', 'score': 0.44}, {'connected_gene': 'TXNRD1', 'score': 0.26}]
chr12	GH12I104381	104381801	104382399	0.98	[{'connected_gene': 'TDG', 'score': 10.28}, {'connected_gene': 'LOC105369949', 'score': 0.77}, {'connected_gene': 'GC12P104415', 'score': 0.29}]
chr12	GH12I103742	103742217	103743415	0.52	[{'connected_gene': 'TDG', 'score': 15.14}, {'connected_gene': 'ENSG00000212594', 'score': 9.55}, {'connected_gene': 'ENSG00000257681', 'score': 0.31}, {'connected_gene': 'LOC105369946', 'score': 0.19}, {'connected_gene': 'STAB2', 'score': 0.1}]
chr12	GH12I103839	103839921	103842672	2.24	[{'connected_gene': 'NT5DC3', 'score': 560.01}, {'connected_gene': 'ENSG00000257327', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 30.95}, {'connected_gene': 'RPL18AP3', 'score': 10.93}, {'connected_gene': 'C12orf73', 'score': 7.89}, {'connected_gene': 'TTC41P', 'score': 7.35}]
chr12	GH12I103831	103831963	103833000	0.66	[{'connected_gene': 'NT5DC3', 'score': 36.07}, {'connected_gene': 'TDG', 'score': 5.21}, {'connected_gene': 'ENSG00000257754', 'score': 0.39}]
chr12	GH12I103827	103827563	103828391	0.2	[{'connected_gene': 'NT5DC3', 'score': 32.31}, {'connected_gene': 'ENSG00000257681', 'score': 13.78}, {'connected_gene': 'TDG', 'score': 5.16}, {'connected_gene': 'ENSG00000257754', 'score': 0.44}]
chr12	GH12I103797	103797434	103807399	1.69	[{'connected_gene': 'NT5DC3', 'score': 35.13}, {'connected_gene': 'ENSG00000257681', 'score': 18.46}, {'connected_gene': 'TDG', 'score': 10.33}, {'connected_gene': 'ENSG00000257754', 'score': 0.37}]
chr12	GH12I104602	104602752	104606999	1.7	[{'connected_gene': 'CHST11', 'score': 17.43}, {'connected_gene': 'TDG', 'score': 14.02}, {'connected_gene': 'WASHC4', 'score': 12.37}, {'connected_gene': 'TXNRD1', 'score': 2.86}, {'connected_gene': 'EID3', 'score': 2.39}, {'connected_gene': 'GC12M104604', 'score': 0.77}, {'connected_gene': 'MIR3922', 'score': 0.39}]
chr12	GH12I104496	104496791	104498992	1.09	[{'connected_gene': 'CHST11', 'score': 11.49}, {'connected_gene': 'TDG', 'score': 10.19}, {'connected_gene': 'GC12P104505', 'score': 0.44}, {'connected_gene': 'GC12P104468', 'score': 0.31}]
chr12	GH12I104666	104666759	104674599	1.77	[{'connected_gene': 'CHST11', 'score': 30.39}, {'connected_gene': 'WASHC4', 'score': 22.07}, {'connected_gene': 'TDG', 'score': 16.51}, {'connected_gene': 'RPL18AP3', 'score': 10.57}, {'connected_gene': 'EID3', 'score': 9.84}, {'connected_gene': 'HCFC2', 'score': 9.77}, {'connected_gene': 'TXNRD1', 'score': 2.42}, {'connected_gene': 'SLC41A2', 'score': 1.27}, {'connected_gene': 'PIR42556', 'score': 0.28}, {'connected_gene': 'GC12M104604', 'score': 0.21}]
chr12	GH12I104344	104344576	104345717	0.31	[{'connected_gene': 'EID3', 'score': 21.03}, {'connected_gene': 'TDG', 'score': 5.25}, {'connected_gene': 'GC12P104350', 'score': 0.77}, {'connected_gene': 'PIR31122', 'score': 0.77}, {'connected_gene': 'TXNRD1', 'score': 0.13}]
chr12	GH12I104302	104302714	104304942	1.88	[{'connected_gene': 'EID3', 'score': 595.57}, {'connected_gene': 'TDG', 'score': 12.31}, {'connected_gene': 'GC12P104350', 'score': 0.25}, {'connected_gene': 'PIR31122', 'score': 0.25}, {'connected_gene': 'TXNRD1', 'score': 0.17}]
chr12	GH12I104177	104177143	104179010	1.08	[{'connected_gene': 'EID3', 'score': 9.54}, {'connected_gene': 'TDG', 'score': 6.03}, {'connected_gene': 'LINC02385', 'score': 0.44}, {'connected_gene': 'GC12P104172', 'score': 0.44}, {'connected_gene': 'TXNRD1', 'score': 0.28}]
chr12	GH12I104316	104316662	104318102	0.31	[{'connected_gene': 'EID3', 'score': 40.53}, {'connected_gene': 'NFYB', 'score': 5.92}, {'connected_gene': 'TDG', 'score': 5.25}, {'connected_gene': 'GC12P104350', 'score': 0.29}, {'connected_gene': 'PIR31122', 'score': 0.29}, {'connected_gene': 'TXNRD1', 'score': 0.15}]
chr12	GH12I104054	104054907	104055712	0.38	[{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'C12orf73', 'score': 6.0}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.39}, {'connected_gene': 'PIR60229', 'score': 0.34}, {'connected_gene': 'GC12P104035', 'score': 0.34}, {'connected_gene': 'GC12P104034', 'score': 0.34}, {'connected_gene': 'GC12P104033', 'score': 0.34}, {'connected_gene': 'GC12P104032', 'score': 0.34}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12	GH12I104055	104055800	104057399	0.79	[{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12	GH12I104136	104136133	104139386	1.98	[{'connected_gene': 'NFYB', 'score': 556.21}, {'connected_gene': 'TDG', 'score': 27.79}, {'connected_gene': 'WASHC4', 'score': 21.03}, {'connected_gene': 'RNA5SP370', 'score': 0.39}]
chr12	GH12I104351	104351840	104352682	0.46	[{'connected_gene': 'NFYB', 'score': 5.9}, {'connected_gene': 'TDG', 'score': 5.24}, {'connected_gene': 'GC12P104350', 'score': 0.77}, {'connected_gene': 'PIR31122', 'score': 0.77}, {'connected_gene': 'GC12P104371', 'score': 0.37}]
chr12	GH12I103905	103905857	103906759	0.68	[{'connected_gene': 'TTC41P', 'score': 21.1}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.89}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103907	103907510	103907893	0.85	[{'connected_gene': 'TTC41P', 'score': 11.77}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.99}, {'connected_gene': 'NT5DC3', 'score': 10.17}, {'connected_gene': 'ENSG00000257327', 'score': 0.2}]
chr12	GH12I103883	103883023	103883172	0.54	[{'connected_gene': 'TTC41P', 'score': 11.94}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'ENSG00000257327', 'score': 0.26}]
chr12	GH12I103879	103879888	103882020	0.81	[{'connected_gene': 'TTC41P', 'score': 25.26}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'C12orf73', 'score': 4.8}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I103927	103927133	103933562	2.3	[{'connected_gene': 'TTC41P', 'score': 561.01}, {'connected_gene': 'HSP90B1', 'score': 550.77}, {'connected_gene': 'MIR3652', 'score': 550.77}, {'connected_gene': 'GC12P103934', 'score': 550.77}, {'connected_gene': 'GC12P103932', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 19.2}, {'connected_gene': 'RPL18AP3', 'score': 10.94}, {'connected_gene': 'C12orf73', 'score': 10.08}, {'connected_gene': 'NT5DC3', 'score': 6.31}, {'connected_gene': 'ENSG00000257681', 'score': 5.73}]
chr12	GH12I103878	103878023	103878212	0.77	[{'connected_gene': 'TTC41P', 'score': 24.24}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'HSP90B1', 'score': 10.95}, {'connected_gene': 'TDG', 'score': 10.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I104595	104595723	104602073	1.41	[{'connected_gene': 'WASHC4', 'score': 12.88}, {'connected_gene': 'RPL18AP3', 'score': 10.88}, {'connected_gene': 'CHST11', 'score': 10.6}, {'connected_gene': 'TDG', 'score': 9.93}, {'connected_gene': 'MIR3922', 'score': 0.44}, {'connected_gene': 'GC12M104604', 'score': 0.44}]