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
ENST00000526417	[[50727513, 50727573], [50733398, 50733865], [50741765, 50741871], [50743854, 50743927], [50744468, 50744862]]	None
ENST00000531674	[[50727536, 50727573], [50730250, 50730391], [50733398, 50733844]]	[[50733406, 50733844]]
ENST00000300589	[[50731049, 50731227], [50733398, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50766988]]	[[50731154, 50731227], [50733398, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50765730]]
ENST00000527070	[[50731050, 50731950], [50733398, 50733865], [50741765, 50741871], [50744468, 50744702]]	[[50731154, 50731262]]
ENST00000532206	[[50731050, 50731227], [50733398, 50733865], [50744468, 50744702]]	None
ENST00000534057	[[50746104, 50746284], [50750497, 50750581], [50753835, 50753919], [50756532, 50756616], [50757211, 50757285]]	[[50746104, 50746284], [50750497, 50750581], [50753835, 50753919], [50756532, 50756616], [50757211, 50757285]]
ENST00000524712	[[50746104, 50746312], [50756532, 50756616], [50757211, 50757285]]	[[50746104, 50746285]]
ENST00000534067	[[50746104, 50746548], [50756532, 50756616], [50757211, 50757285]]	[[50746104, 50746285]]
ENST00000527052	[[50746104, 50746284], [50756532, 50756616], [50757211, 50757285]]	[[50746104, 50746284], [50756532, 50756533]]
ENST00000529633	[[50746104, 50746312], [50753835, 50753919], [50756532, 50756616], [50757211, 50757285]]	[[50746104, 50746285]]
NM_022162	[[50731049, 50731227], [50733398, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50766988]]	[[50731154, 50731227], [50733398, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50765730]]
NM_001293557	[[50733260, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50766988]]	[[50733406, 50733865], [50741765, 50741871], [50744468, 50746284], [50750497, 50750581], [50750801, 50750885], [50753835, 50753919], [50756532, 50756616], [50757211, 50757295], [50759399, 50759483], [50763728, 50763812], [50765657, 50765730]]

Promoter

Chrom	Start	End	Description
chr16	50727479	50727546	CAGE_peak_1_at_NOD2_5end
chr16	50730853	50730871	CAGE_peak_2_at_NOD2_5end
chr16	50730910	50730921	CAGE_peak_6_at_NOD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I050457	50457802	50459629	1.16	[{'connected_gene': 'PAPD5', 'score': 10.76}, {'connected_gene': 'NOD2', 'score': 4.83}, {'connected_gene': 'GC16P050465', 'score': 0.44}, {'connected_gene': 'ENSG00000260573', 'score': 0.23}]
chr16	GH16I050591	50591404	50592913	1.06	[{'connected_gene': 'NOD2', 'score': 4.54}, {'connected_gene': 'PIR48968', 'score': 0.39}, {'connected_gene': 'ENSG00000205414', 'score': 0.34}, {'connected_gene': 'NKD1', 'score': 0.26}]
chr16	GH16I050702	50702001	50704090	0.85	[{'connected_gene': 'NOD2', 'score': 16.22}, {'connected_gene': 'CYLD', 'score': 3.43}, {'connected_gene': 'SNX20', 'score': 3.08}, {'connected_gene': 'ADCY7', 'score': 1.34}, {'connected_gene': 'PIR45400', 'score': 0.77}, {'connected_gene': 'GC16P050707', 'score': 0.77}]
chr16	GH16I050695	50695230	50700663	2.66	[{'connected_gene': 'NOD2', 'score': 611.99}, {'connected_gene': 'SNX20', 'score': 21.2}, {'connected_gene': 'CYLD', 'score': 10.32}, {'connected_gene': 'ADCY7', 'score': 3.43}, {'connected_gene': 'PIR45400', 'score': 0.44}, {'connected_gene': 'GC16P050707', 'score': 0.44}]
chr16	GH16I050721	50721508	50723060	0.83	[{'connected_gene': 'NOD2', 'score': 12.79}, {'connected_gene': 'SNX20', 'score': 12.46}, {'connected_gene': 'CYLD', 'score': 5.64}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}]
chr16	GH16I050718	50718872	50720317	0.92	[{'connected_gene': 'NOD2', 'score': 13.28}, {'connected_gene': 'SNX20', 'score': 13.18}, {'connected_gene': 'ENSG00000270120', 'score': 0.44}, {'connected_gene': 'CYLD', 'score': 0.34}]
chr16	GH16I050671	50671770	50671919	0.89	[{'connected_gene': 'NOD2', 'score': 8.16}, {'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'SNX20', 'score': 0.44}]
chr16	GH16I050467	50467610	50469961	1.3	[{'connected_gene': 'NOD2', 'score': 5.09}, {'connected_gene': 'GC16P050465', 'score': 0.77}, {'connected_gene': 'GC16M050509', 'score': 0.23}, {'connected_gene': 'ENSG00000260573', 'score': 0.21}]
chr16	GH16I050693	50693400	50694699	1.46	[{'connected_gene': 'NOD2', 'score': 550.77}, {'connected_gene': 'PIR45400', 'score': 0.39}, {'connected_gene': 'GC16P050707', 'score': 0.39}]
chr16	GH16I050694	50694730	50694879	0.63	[{'connected_gene': 'NOD2', 'score': 550.77}, {'connected_gene': 'PIR45400', 'score': 0.39}, {'connected_gene': 'GC16P050707', 'score': 0.39}]
chr16	GH16I050280	50280460	50285305	1.48	[{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16	GH16I050766	50766247	50770303	0.2	[{'connected_gene': 'BRD7', 'score': 9.83}, {'connected_gene': 'NOD2', 'score': 9.71}, {'connected_gene': 'LOC102724907', 'score': 9.46}, {'connected_gene': 'CYLD', 'score': 0.31}, {'connected_gene': 'LOC105371251', 'score': 0.28}]
chr16	GH16I050740	50740629	50748340	2.69	[{'connected_gene': 'CYLD', 'score': 561.57}, {'connected_gene': 'LOC102724907', 'score': 560.98}, {'connected_gene': 'NOD2', 'score': 38.31}, {'connected_gene': 'PAPD5', 'score': 19.54}, {'connected_gene': 'SNX20', 'score': 18.92}, {'connected_gene': 'BRD7', 'score': 10.1}, {'connected_gene': 'ADCY7', 'score': 2.35}, {'connected_gene': 'MIR3181', 'score': 0.77}, {'connected_gene': 'LOC105371251', 'score': 0.21}]
chr16	GH16I050759	50759335	50765442	0.59	[{'connected_gene': 'SNX20', 'score': 12.17}, {'connected_gene': 'PAPD5', 'score': 11.21}, {'connected_gene': 'BRD7', 'score': 10.17}, {'connected_gene': 'NOD2', 'score': 9.86}, {'connected_gene': 'LOC102724907', 'score': 9.52}, {'connected_gene': 'CYLD', 'score': 0.34}, {'connected_gene': 'LOC105371251', 'score': 0.26}]
chr16	GH16I050678	50678224	50686983	2.58	[{'connected_gene': 'SNX20', 'score': 581.45}, {'connected_gene': 'NOD2', 'score': 59.37}, {'connected_gene': 'BRD7', 'score': 19.9}, {'connected_gene': 'CYLD', 'score': 10.73}, {'connected_gene': 'ADCY7', 'score': 2.75}]
chr16	GH16I050724	50724464	50724826	0.46	[{'connected_gene': 'SNX20', 'score': 17.89}, {'connected_gene': 'NOD2', 'score': 12.26}, {'connected_gene': 'BRD7', 'score': 9.54}, {'connected_gene': 'CYLD', 'score': 5.72}, {'connected_gene': 'ENSG00000270120', 'score': 0.39}]
chr16	GH16I050731	50731175	50732291	0.69	[{'connected_gene': 'SNX20', 'score': 11.99}, {'connected_gene': 'NOD2', 'score': 11.45}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'ENSG00000270120', 'score': 0.37}]
chr16	GH16I050752	50752088	50754410	0.2	[{'connected_gene': 'SNX20', 'score': 12.01}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.95}, {'connected_gene': 'ENSG00000205414', 'score': 9.56}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.23}]
chr16	GH16I050756	50756019	50757652	0.31	[{'connected_gene': 'SNX20', 'score': 12.18}, {'connected_gene': 'BRD7', 'score': 10.38}, {'connected_gene': 'NOD2', 'score': 9.94}, {'connected_gene': 'ENSG00000205414', 'score': 9.55}, {'connected_gene': 'CYLD', 'score': 0.39}, {'connected_gene': 'LOC102724907', 'score': 0.39}, {'connected_gene': 'LOC105371251', 'score': 0.25}]
chr16	GH16I050666	50666546	50669297	1.22	[{'connected_gene': 'LOC101927272', 'score': 550.77}, {'connected_gene': 'NOD2', 'score': 7.96}, {'connected_gene': 'SNX20', 'score': 0.39}]
chr16	GH16I050581	50581281	50582722	0.38	[{'connected_gene': 'PIR48968', 'score': 550.77}, {'connected_gene': 'NKD1', 'score': 12.22}, {'connected_gene': 'ENSG00000205414', 'score': 11.87}, {'connected_gene': 'NOD2', 'score': 5.4}]
chr16	GH16I050473	50473695	50474229	0.62	[{'connected_gene': 'ENSG00000205414', 'score': 10.59}, {'connected_gene': 'NOD2', 'score': 4.29}, {'connected_gene': 'GC16P050465', 'score': 0.44}, {'connected_gene': 'GC16M050509', 'score': 0.25}, {'connected_gene': 'ENSG00000260573', 'score': 0.2}]
chr16	GH16I050711	50711427	50713364	0.85	[{'connected_gene': 'ENSG00000270120', 'score': 550.77}, {'connected_gene': 'NOD2', 'score': 12.89}, {'connected_gene': 'PIR45400', 'score': 0.77}, {'connected_gene': 'GC16P050707', 'score': 0.77}]
chr16	GH16I050708	50708601	50710000	1.1	[{'connected_gene': 'PIR45400', 'score': 550.77}, {'connected_gene': 'GC16P050707', 'score': 550.77}, {'connected_gene': 'NOD2', 'score': 12.38}, {'connected_gene': 'ENSG00000270120', 'score': 0.77}]
chr16	GH16I050706	50706330	50706396	0.74	[{'connected_gene': 'PIR45400', 'score': 550.77}, {'connected_gene': 'GC16P050707', 'score': 550.77}, {'connected_gene': 'NOD2', 'score': 0.39}]
chr16	GH16I050713	50713685	50715288	0.76	[{'connected_gene': 'ENSG00000270120', 'score': 550.77}, {'connected_gene': 'CYLD', 'score': 6.19}, {'connected_gene': 'NOD2', 'score': 0.34}]