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
ENST00000416007	[[36767769, 36768396], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789882]]	[[36768288, 36768396], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]
ENST00000318473	[[36767773, 36768393], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789833]]	[[36768288, 36768393], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]
ENST00000359527	[[36767795, 36768396], [36769990, 36770029], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789813]]	[[36768376, 36768396], [36769990, 36770029], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]
ENST00000604154	[[36768322, 36768396], [36769990, 36770226]]	None
ENST00000604768	[[36768323, 36768396], [36769990, 36770029], [36774294, 36774510], [36777297, 36777395], [36780778, 36780796]]	None
ENST00000605579	[[36777222, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789783]]	[[36777276, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789783]]
ENST00000604336	[[36777362, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784142], [36785898, 36786018], [36789665, 36789803]]	[[36777362, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784142], [36785898, 36786018], [36789665, 36789794]]
ENST00000603913	[[36780778, 36780931], [36781164, 36781230], [36782495, 36783519]]	None
ENST00000603139	[[36780782, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36789665, 36789830]]	[[36780782, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36789665, 36789794]]
ENST00000604160	[[36783906, 36784121], [36785898, 36786018], [36788790, 36789076]]	[[36783906, 36784121], [36785898, 36786018], [36788790, 36788793]]
NM_016586	[[36767763, 36768396], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789882]]	[[36768288, 36768396], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]
NM_001144891	[[36767763, 36768393], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789882]]	[[36768288, 36768393], [36769990, 36770029], [36777297, 36777395], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]
NM_001308110	[[36767763, 36768396], [36769990, 36770029], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789882]]	[[36768376, 36768396], [36769990, 36770029], [36780778, 36780931], [36781164, 36781230], [36783717, 36783814], [36783896, 36784121], [36785898, 36786018], [36789665, 36789794]]

Promoter

Chrom	Start	End	Description
chr14	36789763	36789774	CAGE_peak_3_at_MBIP_5end
chr14	36789789	36789860	CAGE_peak_1_at_MBIP_5end
chr14	36789865	36789886	CAGE_peak_2_at_MBIP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I036173	36173120	36173406	0.22	[{'connected_gene': 'NKX2-1', 'score': 2.57}, {'connected_gene': 'MBIP', 'score': 1.83}, {'connected_gene': 'NKX2-8', 'score': 1.52}, {'connected_gene': 'PTCSC3', 'score': 0.77}, {'connected_gene': 'GC14P036113', 'score': 0.22}]
chr14	GH14I036508	36508306	36508449	0.88	[{'connected_gene': 'NKX2-1', 'score': 16.33}, {'connected_gene': 'SFTA3', 'score': 12.78}, {'connected_gene': 'MBIP', 'score': 2.54}, {'connected_gene': 'ENSG00000257520', 'score': 0.39}, {'connected_gene': 'GC14P036424', 'score': 0.18}, {'connected_gene': 'ENSG00000283098', 'score': 0.09}]
chr14	GH14I037167	37167275	37169342	1.16	[{'connected_gene': 'MBIP', 'score': 10.73}, {'connected_gene': 'SLC25A21', 'score': 0.77}, {'connected_gene': 'SLC25A21-AS1', 'score': 0.77}, {'connected_gene': 'GC14P037106', 'score': 0.21}]
chr14	GH14I036345	36345096	36346731	0.98	[{'connected_gene': 'MBIP', 'score': 17.3}, {'connected_gene': 'RPL29P3', 'score': 9.7}, {'connected_gene': 'NKX2-8', 'score': 9.7}, {'connected_gene': 'ENSG00000283098', 'score': 0.31}, {'connected_gene': 'DPPA3P2', 'score': 0.31}]
chr14	GH14I036272	36272201	36272724	1.15	[{'connected_gene': 'MBIP', 'score': 17.45}, {'connected_gene': 'RPL29P3', 'score': 9.41}, {'connected_gene': 'NKX2-8', 'score': 9.41}, {'connected_gene': 'RN7SKP21', 'score': 0.26}]
chr14	GH14I036269	36269088	36270005	0.89	[{'connected_gene': 'MBIP', 'score': 10.82}, {'connected_gene': 'RPL29P3', 'score': 9.41}, {'connected_gene': 'NKX2-8', 'score': 9.41}, {'connected_gene': 'RN7SKP21', 'score': 0.28}]
chr14	GH14I036318	36318591	36321284	2.03	[{'connected_gene': 'MBIP', 'score': 561.49}, {'connected_gene': 'ENSG00000283098', 'score': 550.77}, {'connected_gene': 'LOC644584', 'score': 12.97}, {'connected_gene': 'RALGAPA1', 'score': 9.99}, {'connected_gene': 'RN7SKP21', 'score': 0.17}]
chr14	GH14I036454	36454994	36455281	0.83	[{'connected_gene': 'MBIP', 'score': 4.79}, {'connected_gene': 'GC14P036424', 'score': 0.29}, {'connected_gene': 'SFTA3', 'score': 0.22}, {'connected_gene': 'ENSG00000283098', 'score': 0.12}]
chr14	GH14I036317	36317755	36317904	0.72	[{'connected_gene': 'MBIP', 'score': 0.77}, {'connected_gene': 'RN7SKP21', 'score': 0.17}]
chr14	GH14I036295	36295815	36295964	0.38	[{'connected_gene': 'MBIP', 'score': 11.52}, {'connected_gene': 'RN7SKP21', 'score': 0.21}]
chr14	GH14I036515	36514552	36515145	0.89	[{'connected_gene': 'SFTA3', 'score': 571.4}, {'connected_gene': 'NKX2-1', 'score': 19.49}, {'connected_gene': 'MBIP', 'score': 4.18}, {'connected_gene': 'NKX2-1-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000257520', 'score': 0.77}, {'connected_gene': 'ENSG00000283098', 'score': 0.08}]
chr14	GH14I036279	36279235	36280312	0.46	[{'connected_gene': 'SFTA3', 'score': 9.92}, {'connected_gene': 'NKX2-1', 'score': 9.91}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.91}, {'connected_gene': 'RPL29P3', 'score': 9.06}, {'connected_gene': 'NKX2-8', 'score': 9.06}, {'connected_gene': 'MBIP', 'score': 7.5}, {'connected_gene': 'RN7SKP21', 'score': 0.25}]
chr14	GH14I036281	36281435	36281584	0.6	[{'connected_gene': 'SFTA3', 'score': 9.92}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.91}, {'connected_gene': 'NKX2-1', 'score': 9.91}, {'connected_gene': 'RPL29P3', 'score': 9.06}, {'connected_gene': 'NKX2-8', 'score': 9.06}, {'connected_gene': 'MBIP', 'score': 6.8}, {'connected_gene': 'RN7SKP21', 'score': 0.25}]
chr14	GH14I036504	36504570	36505380	1.12	[{'connected_gene': 'RALGAPA1', 'score': 12.07}, {'connected_gene': 'RPL29P3', 'score': 11.12}, {'connected_gene': 'NKX2-8', 'score': 11.11}, {'connected_gene': 'MBIP', 'score': 10.55}, {'connected_gene': 'SFTA3', 'score': 0.44}, {'connected_gene': 'ENSG00000257520', 'score': 0.39}, {'connected_gene': 'GC14P036424', 'score': 0.18}, {'connected_gene': 'ENSG00000283098', 'score': 0.09}]
chr14	GH14I035814	35814515	35814664	0.75	[{'connected_gene': 'RALGAPA1', 'score': 11.96}, {'connected_gene': 'MBIP', 'score': 10.93}, {'connected_gene': 'NUTF2P2', 'score': 0.44}]
chr14	GH14I036268	36268078	36268353	0.4	[{'connected_gene': 'RN7SKP21', 'score': 0.28}, {'connected_gene': 'MBIP', 'score': 0.23}]
chr14	GH14I036238	36238289	36239275	0.74	[{'connected_gene': 'RN7SKP21', 'score': 0.44}, {'connected_gene': 'MBIP', 'score': 0.18}]
chr14	GH14I036174	36174860	36175302	0.24	[{'connected_gene': 'PTCSC3', 'score': 550.77}, {'connected_gene': 'NKX2-1', 'score': 2.74}, {'connected_gene': 'MBIP', 'score': 2.01}, {'connected_gene': 'NKX2-8', 'score': 1.42}, {'connected_gene': 'GC14P036113', 'score': 0.21}]
chr14	GH14I037142	37142429	37143767	0.86	[{'connected_gene': 'SLC25A21-AS1', 'score': 12.48}, {'connected_gene': 'MBIP', 'score': 10.73}, {'connected_gene': 'SLC25A21', 'score': 0.31}, {'connected_gene': 'GC14P037106', 'score': 0.28}]
chr14	GH14I036767	36767293	36768727	0.91	[{'connected_gene': 'ENSG00000258601', 'score': 38.51}, {'connected_gene': 'RALGAPA1', 'score': 11.55}, {'connected_gene': 'MBIP', 'score': 10.94}, {'connected_gene': 'ENSG00000258690', 'score': 0.34}, {'connected_gene': 'LOC105370455', 'score': 0.14}, {'connected_gene': 'SLC25A21', 'score': 0.05}]