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
ENST00000394485	[[56716335, 56716480], [56717076, 56717142], [56717869, 56718108]]	[[56716452, 56716480], [56717076, 56717142], [56717869, 56717961]]
ENST00000562939	[[56716381, 56716480], [56717076, 56717515]]	[[56716452, 56716480], [56717076, 56717189]]
ENST00000568370	[[56716381, 56718108]]	None
ENST00000564974	[[56716392, 56716480], [56717076, 56717298], [56717869, 56718108]]	[[56716452, 56716480], [56717076, 56717189]]
NM_005952	[[56716381, 56716480], [56717076, 56717142], [56717869, 56718108]]	[[56716452, 56716480], [56717076, 56717142], [56717869, 56717961]]

Promoter

Chrom	Start	End	Description
chr16	56715969	56716003	CAGE_peak_2_at_MT1X_5end
chr16	56716373	56716390	CAGE_peak_1_at_MT1X_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I056874	56874298	56875737	0.56	[{'connected_gene': 'HERPUD1', 'score': 11.69}, {'connected_gene': 'MT1X', 'score': 10.14}, {'connected_gene': 'MT1G', 'score': 9.8}, {'connected_gene': 'MT1H', 'score': 9.8}, {'connected_gene': 'MT1F', 'score': 9.46}, {'connected_gene': 'SLC12A3', 'score': 0.44}, {'connected_gene': 'MIR6863', 'score': 0.31}]
chr16	GH16I056914	56914512	56920080	1.67	[{'connected_gene': 'HERPUD1', 'score': 11.72}, {'connected_gene': 'MIR138-2', 'score': 11.44}, {'connected_gene': 'ENSG00000261270', 'score': 9.41}, {'connected_gene': 'MT1X', 'score': 4.66}, {'connected_gene': 'NLRC5', 'score': 1.74}, {'connected_gene': 'RPS24P17', 'score': 0.39}, {'connected_gene': 'SLC12A3', 'score': 0.23}]
chr16	GH16I056805	56805836	56808030	0.68	[{'connected_gene': 'SLC12A3', 'score': 16.11}, {'connected_gene': 'MT1G', 'score': 11.54}, {'connected_gene': 'MT1H', 'score': 11.54}, {'connected_gene': 'MIR138-2', 'score': 11.36}, {'connected_gene': 'NUP93', 'score': 10.81}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.01}, {'connected_gene': 'MT1X', 'score': 9.98}, {'connected_gene': 'MT1F', 'score': 9.68}, {'connected_gene': 'GC16P056858', 'score': 0.23}]
chr16	GH16I056675	56675305	56676318	0.58	[{'connected_gene': 'MT1IP', 'score': 550.77}, {'connected_gene': 'MT1X', 'score': 7.46}, {'connected_gene': 'MT1H', 'score': 0.44}]
chr16	GH16I056677	56677392	56678338	0.2	[{'connected_gene': 'MT1IP', 'score': 550.77}, {'connected_gene': 'MT1X', 'score': 15.47}]
chr16	GH16I056556	56556877	56559988	0.66	[{'connected_gene': 'BBS2', 'score': 16.71}, {'connected_gene': 'MT4', 'score': 13.17}, {'connected_gene': 'MT3', 'score': 11.9}, {'connected_gene': 'MT1G', 'score': 10.9}, {'connected_gene': 'MT1H', 'score': 10.89}, {'connected_gene': 'MT1F', 'score': 10.83}, {'connected_gene': 'MT1X', 'score': 10.62}, {'connected_gene': 'OGFOD1', 'score': 4.45}, {'connected_gene': 'GC16M056558', 'score': 0.44}]
chr16	GH16I056539	56539544	56541368	0.89	[{'connected_gene': 'BBS2', 'score': 24.91}, {'connected_gene': 'MT3', 'score': 11.49}, {'connected_gene': 'MT1X', 'score': 10.54}, {'connected_gene': 'MT1A', 'score': 10.18}, {'connected_gene': 'MT1G', 'score': 9.99}, {'connected_gene': 'MT1H', 'score': 9.99}, {'connected_gene': 'MT1F', 'score': 9.85}, {'connected_gene': 'OGFOD1', 'score': 8.65}, {'connected_gene': 'MT4', 'score': 8.44}, {'connected_gene': 'NUDT21', 'score': 8.33}]
chr16	GH16I056509	56509463	56511951	0.31	[{'connected_gene': 'OGFOD1', 'score': 30.19}, {'connected_gene': 'MT3', 'score': 11.25}, {'connected_gene': 'NUDT21', 'score': 10.57}, {'connected_gene': 'MT1G', 'score': 10.49}, {'connected_gene': 'MT1H', 'score': 10.49}, {'connected_gene': 'MT1A', 'score': 10.47}, {'connected_gene': 'MT1X', 'score': 10.36}, {'connected_gene': 'BBS2', 'score': 6.87}, {'connected_gene': 'ENSG00000274031', 'score': 0.26}]
chr16	GH16I056551	56551969	56552299	1.28	[{'connected_gene': 'MT3', 'score': 17.83}, {'connected_gene': 'BBS2', 'score': 14.84}, {'connected_gene': 'MT4', 'score': 13.94}, {'connected_gene': 'MT1G', 'score': 10.88}, {'connected_gene': 'MT1H', 'score': 10.88}, {'connected_gene': 'MT1F', 'score': 10.82}, {'connected_gene': 'MT1X', 'score': 10.61}, {'connected_gene': 'GNAO1', 'score': 5.77}]
chr16	GH16I056604	56604775	56615536	2.79	[{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16	GH16I056680	56680009	56680138	0.46	[{'connected_gene': 'MT1X', 'score': 0.77}, {'connected_gene': 'MT1IP', 'score': 0.77}]
chr16	GH16I056681	56680827	56684011	1.95	[{'connected_gene': 'MT1X', 'score': 572.16}, {'connected_gene': 'ENSG00000259827', 'score': 550.77}, {'connected_gene': 'MT1L', 'score': 550.21}, {'connected_gene': 'CES1P2', 'score': 4.47}, {'connected_gene': 'MT1IP', 'score': 0.44}]
chr16	GH16I056701	56701649	56702506	1.12	[{'connected_gene': 'MT1X', 'score': 9.52}, {'connected_gene': 'LOC105371287', 'score': 0.44}, {'connected_gene': 'DPPA2P4', 'score': 0.37}]
chr16	GH16I056691	56691248	56692920	0.94	[{'connected_gene': 'MT1X', 'score': 17.92}, {'connected_gene': 'DPPA2P4', 'score': 0.44}, {'connected_gene': 'LOC105371287', 'score': 0.37}]
chr16	GH16I056616	56616880	56618781	1.3	[{'connected_gene': 'MT1L', 'score': 560.59}, {'connected_gene': 'MT1A', 'score': 12.29}, {'connected_gene': 'MT1F', 'score': 11.9}, {'connected_gene': 'MT1G', 'score': 11.54}, {'connected_gene': 'MT1H', 'score': 11.54}, {'connected_gene': 'MT1CP', 'score': 11.41}, {'connected_gene': 'MT1DP', 'score': 11.41}, {'connected_gene': 'MT1B', 'score': 11.33}, {'connected_gene': 'MT3', 'score': 11.18}, {'connected_gene': 'MT1E', 'score': 10.96}, {'connected_gene': 'MT1X', 'score': 10.92}, {'connected_gene': 'NUP93', 'score': 10.2}, {'connected_gene': 'MIR138-2', 'score': 9.82}, {'connected_gene': 'FAM192A', 'score': 5.24}]
chr16	GH16I056667	56667285	56670439	1.44	[{'connected_gene': 'MT1G', 'score': 555.48}, {'connected_gene': 'MT1H', 'score': 555.14}, {'connected_gene': 'MT1X', 'score': 8.07}, {'connected_gene': 'MT1L', 'score': 6.79}]
chr16	GH16I056603	56603601	56604125	1.21	[{'connected_gene': 'MT1G', 'score': 11.09}, {'connected_gene': 'MT1H', 'score': 11.08}, {'connected_gene': 'MT1B', 'score': 10.88}, {'connected_gene': 'MT1X', 'score': 10.69}, {'connected_gene': 'MT1A', 'score': 10.49}, {'connected_gene': 'MT2A', 'score': 0.77}, {'connected_gene': 'MT3', 'score': 0.39}]
chr16	GH16I056605	56604354	56604409	0.51	[{'connected_gene': 'MT1G', 'score': 11.09}, {'connected_gene': 'MT1H', 'score': 11.08}, {'connected_gene': 'MT1B', 'score': 10.88}, {'connected_gene': 'MT1X', 'score': 10.69}, {'connected_gene': 'MT1A', 'score': 10.49}, {'connected_gene': 'MT2A', 'score': 0.77}, {'connected_gene': 'MT3', 'score': 0.37}]
chr16	GH16I056621	56621132	56621774	0.54	[{'connected_gene': 'MT1F', 'score': 11.9}, {'connected_gene': 'MT1G', 'score': 11.55}, {'connected_gene': 'MT1H', 'score': 11.55}, {'connected_gene': 'MT1DP', 'score': 11.44}, {'connected_gene': 'MT1CP', 'score': 11.41}, {'connected_gene': 'MT1B', 'score': 11.33}, {'connected_gene': 'MT3', 'score': 11.16}, {'connected_gene': 'MT1X', 'score': 10.92}, {'connected_gene': 'NUP93', 'score': 10.21}, {'connected_gene': 'MIR138-2', 'score': 9.82}, {'connected_gene': 'MT1L', 'score': 7.27}, {'connected_gene': 'MT1E', 'score': 0.77}]
chr16	GH16I056657	56657089	56658998	1.85	[{'connected_gene': 'MT1F', 'score': 550.77}, {'connected_gene': 'MT1CP', 'score': 9.95}, {'connected_gene': 'MT1L', 'score': 8.45}, {'connected_gene': 'MT1X', 'score': 4.94}, {'connected_gene': 'MT1E', 'score': 4.61}, {'connected_gene': 'LOC101927536', 'score': 0.77}]
chr16	GH16I056624	56624762	56627746	1.92	[{'connected_gene': 'MT1E', 'score': 581.63}, {'connected_gene': 'MT3', 'score': 12.39}, {'connected_gene': 'MT1G', 'score': 11.58}, {'connected_gene': 'MT1H', 'score': 11.58}, {'connected_gene': 'MT1B', 'score': 11.53}, {'connected_gene': 'MT1F', 'score': 11.43}, {'connected_gene': 'MT1X', 'score': 11.23}, {'connected_gene': 'MT1A', 'score': 10.34}, {'connected_gene': 'BBS2', 'score': 10.23}, {'connected_gene': 'NUP93', 'score': 9.98}, {'connected_gene': 'MT1L', 'score': 9.55}, {'connected_gene': 'MT1M', 'score': 0.44}]
chr16	GH16I056800	56800344	56800953	0.69	[{'connected_gene': 'MIR138-2', 'score': 11.42}, {'connected_gene': 'SLC12A3', 'score': 11.0}, {'connected_gene': 'NUP93', 'score': 10.82}, {'connected_gene': 'MT1G', 'score': 10.64}, {'connected_gene': 'MT1H', 'score': 10.64}, {'connected_gene': 'MT1X', 'score': 10.26}, {'connected_gene': 'MT1B', 'score': 10.17}, {'connected_gene': 'NLRC5', 'score': 10.0}, {'connected_gene': 'BBS2', 'score': 9.98}, {'connected_gene': 'HERPUD1', 'score': 9.88}, {'connected_gene': 'MT1F', 'score': 9.34}, {'connected_gene': 'GC16P056858', 'score': 0.22}]
chr16	GH16I056576	56576741	56577658	0.85	[{'connected_gene': 'MT1DP', 'score': 11.42}, {'connected_gene': 'MT1CP', 'score': 11.41}, {'connected_gene': 'MT1X', 'score': 10.96}, {'connected_gene': 'MT1F', 'score': 10.91}, {'connected_gene': 'MT1B', 'score': 10.88}, {'connected_gene': 'MT4', 'score': 10.38}, {'connected_gene': 'GC16P056575', 'score': 0.77}, {'connected_gene': 'MT3', 'score': 0.39}]
chr16	GH16I056708	56708223	56710522	1.06	[{'connected_gene': 'LOC105371287', 'score': 550.77}, {'connected_gene': 'NUP93', 'score': 20.04}, {'connected_gene': 'MT1X', 'score': 17.34}, {'connected_gene': 'MT1H', 'score': 11.68}, {'connected_gene': 'MT1G', 'score': 11.67}, {'connected_gene': 'MT3', 'score': 11.04}, {'connected_gene': 'NLRC5', 'score': 1.68}, {'connected_gene': 'LOC105371286', 'score': 0.34}]
chr16	GH16I056663	56663001	56663200	0.43	[{'connected_gene': 'LOC101927536', 'score': 550.77}, {'connected_gene': 'MT1G', 'score': 7.52}, {'connected_gene': 'MT1X', 'score': 6.73}]
chr16	GH16I056685	56684798	56686073	0.6	[{'connected_gene': 'DPPA2P4', 'score': 550.77}, {'connected_gene': 'MT1X', 'score': 27.43}, {'connected_gene': 'ENSG00000259827', 'score': 0.77}]