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
ENST00000217429	[[37554954, 37555568], [37570601, 37570769], [37576518, 37576643], [37580181, 37581703]]	[[37554995, 37555568], [37570601, 37570769], [37576518, 37576643], [37580181, 37581163]]
NM_030919	[[37554954, 37555568], [37570601, 37570769], [37576518, 37576643], [37580181, 37581703]]	[[37555085, 37555568], [37570601, 37570769], [37576518, 37576643], [37580181, 37581163]]

Promoter

Chrom	Start	End	Description
chr20	37555048	37555067	CAGE_peak_1_at_FAM83D_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I038897	38897195	38902947	0.46	[{'connected_gene': 'FAM83D', 'score': 27.51}, {'connected_gene': 'DHX35', 'score': 9.48}, {'connected_gene': 'SNORA71B', 'score': 9.24}, {'connected_gene': 'SNORA71A', 'score': 9.24}, {'connected_gene': 'GC20M038907', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.16}]
chr20	GH20I038969	38969360	38971226	0.74	[{'connected_gene': 'FAM83D', 'score': 29.21}, {'connected_gene': 'DHX35', 'score': 10.99}, {'connected_gene': 'ENSG00000277581', 'score': 0.44}, {'connected_gene': 'NPM1P19', 'score': 0.44}]
chr20	GH20I038981	38981938	38982751	0.69	[{'connected_gene': 'FAM83D', 'score': 17.09}, {'connected_gene': 'DHX35', 'score': 11.56}, {'connected_gene': 'NPM1P19', 'score': 0.77}, {'connected_gene': 'PIR38411', 'score': 0.17}]
chr20	GH20I038887	38887556	38891321	0.85	[{'connected_gene': 'FAM83D', 'score': 16.92}, {'connected_gene': 'DHX35', 'score': 5.42}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'GC20M038907', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038904	38904638	38907593	0.49	[{'connected_gene': 'FAM83D', 'score': 16.97}, {'connected_gene': 'DHX35', 'score': 16.31}, {'connected_gene': 'GC20M038907', 'score': 0.44}, {'connected_gene': 'RN7SL116P', 'score': 0.29}, {'connected_gene': 'PPP1R16B', 'score': 0.15}]
chr20	GH20I038944	38944932	38945261	0.38	[{'connected_gene': 'FAM83D', 'score': 12.83}, {'connected_gene': 'DHX35', 'score': 9.15}, {'connected_gene': 'GC20M038952', 'score': 0.44}]
chr20	GH20I038949	38949231	38950067	0.49	[{'connected_gene': 'FAM83D', 'score': 30.71}, {'connected_gene': 'DHX35', 'score': 9.91}, {'connected_gene': 'GC20M038952', 'score': 0.77}]
chr20	GH20I038946	38946735	38949001	1.17	[{'connected_gene': 'FAM83D', 'score': 28.99}, {'connected_gene': 'DHX35', 'score': 9.91}, {'connected_gene': 'GC20M038952', 'score': 0.44}]
chr20	GH20I038925	38925678	38930471	2.28	[{'connected_gene': 'FAM83D', 'score': 569.48}, {'connected_gene': 'SNHG17', 'score': 25.98}, {'connected_gene': 'ACTR5', 'score': 21.73}, {'connected_gene': 'SNORA60', 'score': 21.41}, {'connected_gene': 'SNORA71A', 'score': 21.13}, {'connected_gene': 'RALGAPB', 'score': 13.58}, {'connected_gene': 'SNHG11', 'score': 12.43}, {'connected_gene': 'TTI1', 'score': 12.24}, {'connected_gene': 'RPS3P2', 'score': 11.71}, {'connected_gene': 'RN7SKP173', 'score': 10.73}, {'connected_gene': 'SNORA71C', 'score': 10.37}, {'connected_gene': 'DHX35', 'score': 9.43}, {'connected_gene': 'GC20M038952', 'score': 0.31}]
chr20	GH20I038895	38895586	38897147	0.46	[{'connected_gene': 'FAM83D', 'score': 20.62}, {'connected_gene': 'SNHG17', 'score': 18.62}, {'connected_gene': 'SNORA71A', 'score': 15.84}, {'connected_gene': 'SNORA71C', 'score': 15.6}, {'connected_gene': 'RALGAPB', 'score': 13.9}, {'connected_gene': 'RPS3P2', 'score': 12.14}, {'connected_gene': 'RN7SKP173', 'score': 11.62}, {'connected_gene': 'TTI1', 'score': 11.3}, {'connected_gene': 'ACTR5', 'score': 10.56}, {'connected_gene': 'DHX35', 'score': 9.13}, {'connected_gene': 'GC20M038907', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.16}]
chr20	GH20I038877	38877406	38879064	0.73	[{'connected_gene': 'FAM83D', 'score': 18.76}, {'connected_gene': 'ARHGAP40', 'score': 5.11}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.28}, {'connected_gene': 'PPP1R16B', 'score': 0.19}]
chr20	GH20I039233	39233806	39238074	0.31	[{'connected_gene': 'FAM83D', 'score': 8.37}, {'connected_gene': 'LINC01734', 'score': 0.39}, {'connected_gene': 'PIR62869', 'score': 0.23}]
chr20	GH20I039190	39190798	39190927	0.56	[{'connected_gene': 'FAM83D', 'score': 7.32}, {'connected_gene': 'LINC01734', 'score': 0.29}, {'connected_gene': 'PIR38411', 'score': 0.13}]
chr20	GH20I038888	38887178	38887409	0.55	[{'connected_gene': 'FAM83D', 'score': 11.56}, {'connected_gene': 'PPP1R16B', 'score': 3.75}, {'connected_gene': 'ACTR5', 'score': 1.96}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}]
chr20	GH20I038973	38973382	38974216	0.72	[{'connected_gene': 'FAM83D', 'score': 28.52}, {'connected_gene': 'NPM1P19', 'score': 0.77}, {'connected_gene': 'ENSG00000277581', 'score': 0.39}, {'connected_gene': 'DHX35', 'score': 0.39}]
chr20	GH20I039004	39004618	39004767	0.43	[{'connected_gene': 'FAM83D', 'score': 17.23}, {'connected_gene': 'NPM1P19', 'score': 0.31}, {'connected_gene': 'DHX35', 'score': 0.26}, {'connected_gene': 'PIR38411', 'score': 0.2}]
chr20	GH20I038880	38880871	38884210	0.93	[{'connected_gene': 'FAM83D', 'score': 16.9}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.29}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038886	38886338	38886801	0.2	[{'connected_gene': 'FAM83D', 'score': 16.77}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038879	38879075	38880364	0.69	[{'connected_gene': 'FAM83D', 'score': 11.63}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.28}, {'connected_gene': 'PPP1R16B', 'score': 0.19}]
chr20	GH20I038891	38891683	38894667	1.3	[{'connected_gene': 'FAM83D', 'score': 17.82}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'GC20M038907', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.17}]
chr20	GH20I038932	38932201	38933587	0.92	[{'connected_gene': 'FAM83D', 'score': 18.34}, {'connected_gene': 'GC20M038952', 'score': 0.34}]
chr20	GH20I038935	38935378	38935487	0.59	[{'connected_gene': 'FAM83D', 'score': 0.39}, {'connected_gene': 'GC20M038952', 'score': 0.37}]
chr20	GH20I038825	38825658	38827067	1.19	[{'connected_gene': 'ACTR5', 'score': 19.49}, {'connected_gene': 'FAM83D', 'score': 12.57}, {'connected_gene': 'PPP1R16B', 'score': 0.34}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20	GH20I039035	39035108	39038012	0.31	[{'connected_gene': 'DHX35', 'score': 42.22}, {'connected_gene': 'FAM83D', 'score': 28.69}, {'connected_gene': 'SNHG17', 'score': 17.11}, {'connected_gene': 'RALGAPB', 'score': 12.08}, {'connected_gene': 'SNORA71C', 'score': 11.61}, {'connected_gene': 'RN7SKP173', 'score': 9.7}, {'connected_gene': 'PIR38411', 'score': 0.29}, {'connected_gene': 'NPM1P19', 'score': 0.22}]
chr20	GH20I038997	38997371	38998447	1.05	[{'connected_gene': 'DHX35', 'score': 26.49}, {'connected_gene': 'FAM83D', 'score': 17.24}, {'connected_gene': 'NPM1P19', 'score': 0.37}, {'connected_gene': 'PIR38411', 'score': 0.19}]
chr20	GH20I038936	38936055	38936586	0.46	[{'connected_gene': 'DHX35', 'score': 27.76}, {'connected_gene': 'FAM83D', 'score': 15.93}, {'connected_gene': 'GC20M038952', 'score': 0.37}]
chr20	GH20I038941	38941838	38941987	0.54	[{'connected_gene': 'DHX35', 'score': 11.99}, {'connected_gene': 'GC20M038952', 'score': 0.39}, {'connected_gene': 'FAM83D', 'score': 0.37}]
chr20	GH20I038960	38960895	38963401	2.28	[{'connected_gene': 'DHX35', 'score': 579.55}, {'connected_gene': 'ENSG00000277581', 'score': 550.77}, {'connected_gene': 'ENSG00000261431', 'score': 550.77}, {'connected_gene': 'RALGAPB', 'score': 34.94}, {'connected_gene': 'FAM83D', 'score': 28.89}, {'connected_gene': 'SNHG17', 'score': 27.25}, {'connected_gene': 'SNORA71C', 'score': 21.97}, {'connected_gene': 'RN7SKP173', 'score': 20.42}, {'connected_gene': 'ACTR5', 'score': 20.37}, {'connected_gene': 'TTI1', 'score': 20.29}, {'connected_gene': 'SNORA71A', 'score': 13.01}, {'connected_gene': 'RPS3P2', 'score': 11.71}, {'connected_gene': 'SNORA60', 'score': 10.63}]
chr20	GH20I039225	39225058	39227230	0.38	[{'connected_gene': 'LINC01734', 'score': 550.77}, {'connected_gene': 'FAM83D', 'score': 8.15}, {'connected_gene': 'DHX35', 'score': 7.15}, {'connected_gene': 'PIR62869', 'score': 0.21}]
chr20	GH20I038978	38978972	38980792	0.2	[{'connected_gene': 'NPM1P19', 'score': 550.77}, {'connected_gene': 'FAM83D', 'score': 18.53}, {'connected_gene': 'DHX35', 'score': 10.71}, {'connected_gene': 'PIR38411', 'score': 0.16}]
chr20	GH20I038870	38870237	38877393	1.62	[{'connected_gene': 'RN7SL116P', 'score': 550.77}, {'connected_gene': 'PPP1R16B', 'score': 15.12}, {'connected_gene': 'FAM83D', 'score': 10.94}, {'connected_gene': 'ACTR5', 'score': 6.27}, {'connected_gene': 'SLC32A1', 'score': 2.79}, {'connected_gene': 'DHX35', 'score': 2.26}, {'connected_gene': 'RALGAPB', 'score': 2.09}, {'connected_gene': 'GC20M038907', 'score': 0.26}]