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
ENST00000371269	[[55315305, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352561, 55352891]]	[[55317905, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352561, 55352792]]
ENST00000436604	[[55316548, 55316918], [55317875, 55318059], [55319106, 55319285], [55319709, 55319839]]	[[55317905, 55318059], [55319106, 55319285], [55319709, 55319839]]
ENST00000537443	[[55317395, 55318059], [55319106, 55319285], [55319709, 55319907], [55337022, 55337286], [55340765, 55340884], [55341614, 55341668]]	[[55317905, 55318059], [55319106, 55319285], [55319709, 55319907], [55337022, 55337286], [55340765, 55340873]]
ENST00000535035	[[55317582, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352290, 55352481]]	[[55317905, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352290, 55352398]]
NM_014762	[[55315299, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352561, 55352921]]	[[55317905, 55318059], [55319106, 55319285], [55319709, 55319907], [55330975, 55331119], [55337022, 55337286], [55340765, 55340884], [55341614, 55341720], [55349290, 55349446], [55352561, 55352792]]

Promoter

Chrom	Start	End	Description
chr1	55331310	55331365	CAGE_peak_3_at_DHCR24_5end
chr1	55352834	55352876	CAGE_peak_1_at_DHCR24_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I054792	54792785	54802259	2.29	[{'connected_gene': 'TTC22', 'score': 556.82}, {'connected_gene': 'LEXM', 'score': 14.56}, {'connected_gene': 'PARS2', 'score': 11.8}, {'connected_gene': 'TTC4', 'score': 10.29}, {'connected_gene': 'ENSG00000242396', 'score': 9.65}, {'connected_gene': 'DHCR24', 'score': 9.65}, {'connected_gene': 'ENSG00000233203', 'score': 9.64}, {'connected_gene': 'ENSG00000237453', 'score': 0.77}, {'connected_gene': 'PIR51709', 'score': 0.77}, {'connected_gene': 'GC01M054800', 'score': 0.77}]
chr1	GH01I054948	54948289	54948554	0.51	[{'connected_gene': 'TMEM61', 'score': 12.54}, {'connected_gene': 'ENSG00000233271', 'score': 12.48}, {'connected_gene': 'ENSG00000242396', 'score': 11.04}, {'connected_gene': 'DHCR24', 'score': 11.04}, {'connected_gene': 'ENSG00000233203', 'score': 11.04}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.25}, {'connected_gene': 'PIR41856', 'score': 0.77}, {'connected_gene': 'GC01M054958', 'score': 0.44}]
chr1	GH01I054939	54939665	54940807	0.43	[{'connected_gene': 'TMEM61', 'score': 24.19}, {'connected_gene': 'ENSG00000233271', 'score': 12.45}, {'connected_gene': 'ENSG00000242396', 'score': 10.7}, {'connected_gene': 'DHCR24', 'score': 10.7}, {'connected_gene': 'ENSG00000233203', 'score': 10.7}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.08}, {'connected_gene': 'GC01M054936', 'score': 0.77}, {'connected_gene': 'PIR41856', 'score': 0.44}]
chr1	GH01I054926	54926637	54929194	0.78	[{'connected_gene': 'DHCR24', 'score': 16.77}, {'connected_gene': 'ENSG00000242396', 'score': 11.5}, {'connected_gene': 'ENSG00000233203', 'score': 11.5}, {'connected_gene': 'TMEM61', 'score': 11.19}, {'connected_gene': 'TTC22', 'score': 9.91}, {'connected_gene': 'ENSG00000237453', 'score': 9.9}, {'connected_gene': 'GC01P054924', 'score': 0.77}, {'connected_gene': 'GC01M054936', 'score': 0.44}]
chr1	GH01I054904	54904036	54906028	0.49	[{'connected_gene': 'DHCR24', 'score': 11.56}, {'connected_gene': 'GC01M054900', 'score': 0.77}, {'connected_gene': 'GC01P054911', 'score': 0.44}]
chr1	GH01I054871	54871024	54872962	0.65	[{'connected_gene': 'ENSG00000233203', 'score': 11.55}, {'connected_gene': 'TTC22', 'score': 10.71}, {'connected_gene': 'TMEM61', 'score': 10.32}, {'connected_gene': 'ENSG00000237453', 'score': 10.28}, {'connected_gene': 'MROH7', 'score': 9.56}, {'connected_gene': 'LEXM', 'score': 5.15}, {'connected_gene': 'PIR36544', 'score': 0.77}, {'connected_gene': 'DHCR24', 'score': 0.37}, {'connected_gene': 'GC01P054854', 'score': 0.37}]
chr1	GH01I054849	54849788	54851977	0.76	[{'connected_gene': 'ENSG00000233203', 'score': 21.5}, {'connected_gene': 'TTC22', 'score': 10.87}, {'connected_gene': 'ENSG00000242396', 'score': 10.8}, {'connected_gene': 'DHCR24', 'score': 10.8}, {'connected_gene': 'ENSG00000237453', 'score': 10.67}, {'connected_gene': 'LEXM', 'score': 6.59}, {'connected_gene': 'GC01P054854', 'score': 0.77}, {'connected_gene': 'GC01P054809', 'score': 0.26}]
chr1	GH01I054868	54868633	54870022	0.83	[{'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TTC22', 'score': 10.3}, {'connected_gene': 'ENSG00000237453', 'score': 10.28}, {'connected_gene': 'DHCR24', 'score': 9.52}, {'connected_gene': 'PIR36544', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.37}]
chr1	GH01I054877	54874368	54874686	0.66	[{'connected_gene': 'PIR36544', 'score': 550.77}, {'connected_gene': 'MROH7', 'score': 38.79}, {'connected_gene': 'LEXM', 'score': 24.57}, {'connected_gene': 'DHCR24', 'score': 0.39}, {'connected_gene': 'GC01P054854', 'score': 0.34}]
chr1	GH01I054945	54945002	54946175	1.16	[{'connected_gene': 'PIR41856', 'score': 550.77}, {'connected_gene': 'TMEM61', 'score': 23.52}, {'connected_gene': 'ENSG00000233271', 'score': 12.46}, {'connected_gene': 'ENSG00000242396', 'score': 10.69}, {'connected_gene': 'DHCR24', 'score': 10.69}, {'connected_gene': 'ENSG00000233203', 'score': 10.69}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 10.07}, {'connected_gene': 'USP24', 'score': 1.61}, {'connected_gene': 'GC01M054936', 'score': 0.44}]
chr1	GH01I054882	54882271	54890116	2.29	[{'connected_gene': 'ENSG00000233203', 'score': 564.79}, {'connected_gene': 'DHCR24', 'score': 562.33}, {'connected_gene': 'ENSG00000242396', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 23.2}, {'connected_gene': 'HSPB11', 'score': 14.4}, {'connected_gene': 'ENSG00000279049', 'score': 12.58}, {'connected_gene': 'TMEM61', 'score': 10.71}, {'connected_gene': 'TTC22', 'score': 10.62}, {'connected_gene': 'PARS2', 'score': 10.52}, {'connected_gene': 'LRRC42', 'score': 10.5}, {'connected_gene': 'ENSG00000237453', 'score': 10.04}, {'connected_gene': 'TTC4', 'score': 9.99}, {'connected_gene': 'LEXM', 'score': 5.27}, {'connected_gene': 'PIR36544', 'score': 0.39}]
chr1	GH01I054864	54864880	54868308	1.11	[{'connected_gene': 'ENSG00000233203', 'score': 21.5}, {'connected_gene': 'DHCR24', 'score': 19.7}, {'connected_gene': 'ENSG00000242396', 'score': 11.81}, {'connected_gene': 'TTC22', 'score': 10.31}, {'connected_gene': 'ENSG00000237453', 'score': 10.29}, {'connected_gene': 'LEXM', 'score': 5.8}, {'connected_gene': 'TMEM61', 'score': 5.22}, {'connected_gene': 'PIR36544', 'score': 0.44}, {'connected_gene': 'GC01P054854', 'score': 0.39}]
chr1	GH01I054853	54853050	54855204	0.43	[{'connected_gene': 'GC01P054854', 'score': 550.77}, {'connected_gene': 'ENSG00000233203', 'score': 21.8}, {'connected_gene': 'DHCR24', 'score': 18.82}, {'connected_gene': 'ENSG00000242396', 'score': 11.16}, {'connected_gene': 'TTC22', 'score': 10.09}, {'connected_gene': 'ENSG00000237453', 'score': 9.99}, {'connected_gene': 'GC01P054809', 'score': 0.26}]
chr1	GH01I054923	54923057	54923670	0.66	[{'connected_gene': 'GC01P054925', 'score': 550.77}, {'connected_gene': 'GC01P054924', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 19.8}, {'connected_gene': 'ENSG00000242396', 'score': 11.52}, {'connected_gene': 'ENSG00000233203', 'score': 11.52}, {'connected_gene': 'TMEM61', 'score': 10.93}, {'connected_gene': 'TTC22', 'score': 9.91}, {'connected_gene': 'ENSG00000237453', 'score': 9.9}, {'connected_gene': 'GC01P054911', 'score': 0.39}]
chr1	GH01I054934	54934093	54935672	1.11	[{'connected_gene': 'GC01M054936', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 16.12}, {'connected_gene': 'TMEM61', 'score': 11.39}, {'connected_gene': 'ENSG00000242396', 'score': 10.67}, {'connected_gene': 'ENSG00000233203', 'score': 10.67}, {'connected_gene': 'GC01P054924', 'score': 0.39}]
chr1	GH01I054856	54856102	54863609	1.37	[{'connected_gene': 'ENSG00000233203', 'score': 21.3}, {'connected_gene': 'DHCR24', 'score': 19.24}, {'connected_gene': 'LEXM', 'score': 18.32}, {'connected_gene': 'ENSG00000242396', 'score': 11.78}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 9.99}, {'connected_gene': 'LDLRAD1', 'score': 9.33}, {'connected_gene': 'TCEANC2', 'score': 8.86}, {'connected_gene': 'TMEM59', 'score': 8.86}, {'connected_gene': 'TMEM61', 'score': 5.9}, {'connected_gene': 'GC01P054854', 'score': 0.44}, {'connected_gene': 'PIR36544', 'score': 0.37}]
chr1	GH01I054875	54875725	54876318	0.46	[{'connected_gene': 'PIR36544', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 10.4}, {'connected_gene': 'ENSG00000242396', 'score': 0.39}]
chr1	GH01I054876	54876703	54877349	0.31	[{'connected_gene': 'PIR36544', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 12.09}, {'connected_gene': 'ENSG00000242396', 'score': 0.44}]
chr1	GH01I054874	54874907	54875545	0.52	[{'connected_gene': 'PIR36544', 'score': 550.77}, {'connected_gene': 'DHCR24', 'score': 11.29}, {'connected_gene': 'GC01P054854', 'score': 0.34}]