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
ENST00000320542	[[29989339, 29990422], [29996047, 29996272], [30001998, 30002202]]	[[29989458, 29990422], [29996047, 29996272], [30001998, 30002117]]
NM_001100916	[[29989186, 29990422], [29996047, 29996272], [30001998, 30002200]]	[[29989458, 29990422], [29996047, 29996272], [30001998, 30002117]]

Promoter

Chrom	Start	End	Description
chr8	30002179	30002185	CAGE_peak_1_at_MBOAT4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030144	30144655	30145141	1.32	[{'connected_gene': 'MBOAT4', 'score': 550.39}, {'connected_gene': 'SARAF', 'score': 12.18}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'RPS15AP24', 'score': 0.31}, {'connected_gene': 'LEPROTL1', 'score': 0.25}]
chr8	GH08I029990	29990112	29991931	1.04	[{'connected_gene': 'MBOAT4', 'score': 2.16}, {'connected_gene': 'PIR57138', 'score': 0.37}, {'connected_gene': 'MAP2K1P1', 'score': 0.28}]
chr8	GH08I029849	29849725	29850051	0.74	[{'connected_gene': 'MBOAT4', 'score': 1.67}, {'connected_gene': 'LOC101929470', 'score': 0.77}, {'connected_gene': 'GC08P029814', 'score': 0.28}]
chr8	GH08I029848	29847623	29848994	1.34	[{'connected_gene': 'MBOAT4', 'score': 1.16}, {'connected_gene': 'LOC101929470', 'score': 0.44}, {'connected_gene': 'GC08P029814', 'score': 0.29}]
chr8	GH08I030149	30149601	30150000	0.2	[{'connected_gene': 'SARAF', 'score': 12.03}, {'connected_gene': 'ENSG00000271869', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.29}, {'connected_gene': 'LEPROTL1', 'score': 0.23}]
chr8	GH08I030136	30136479	30138054	1.09	[{'connected_gene': 'LEPROTL1', 'score': 30.12}, {'connected_gene': 'WRN', 'score': 29.3}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'GTF2E2', 'score': 11.84}, {'connected_gene': 'ENSG00000253708', 'score': 10.19}, {'connected_gene': 'HSPA8P11', 'score': 5.46}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.34}]
chr8	GH08I030132	30132218	30134965	1.07	[{'connected_gene': 'LEPROTL1', 'score': 12.9}, {'connected_gene': 'SARAF', 'score': 12.13}, {'connected_gene': 'RPS15AP24', 'score': 0.37}, {'connected_gene': 'ENSG00000271869', 'score': 0.34}, {'connected_gene': 'MBOAT4', 'score': 0.31}]
chr8	GH08I030097	30097692	30102331	1.6	[{'connected_gene': 'LEPROTL1', 'score': 46.97}, {'connected_gene': 'SARAF', 'score': 14.98}, {'connected_gene': 'MBOAT4', 'score': 5.26}, {'connected_gene': 'GC08M030097', 'score': 0.77}, {'connected_gene': 'RPS15AP24', 'score': 0.37}]
chr8	GH08I030088	30088167	30097403	2.73	[{'connected_gene': 'LEPROTL1', 'score': 595.63}, {'connected_gene': 'SARAF', 'score': 21.72}, {'connected_gene': 'HSPA8P11', 'score': 19.97}, {'connected_gene': 'WRN', 'score': 17.83}, {'connected_gene': 'GTF2E2', 'score': 11.83}, {'connected_gene': 'ENSG00000253708', 'score': 10.1}, {'connected_gene': 'MBOAT4', 'score': 5.37}, {'connected_gene': 'GC08M030097', 'score': 0.77}]
chr8	GH08I030075	30075983	30077546	1.3	[{'connected_gene': 'LEPROTL1', 'score': 40.67}, {'connected_gene': 'SARAF', 'score': 28.52}, {'connected_gene': 'HSPA8P11', 'score': 13.75}, {'connected_gene': 'PURG', 'score': 12.33}, {'connected_gene': 'MBOAT4', 'score': 5.21}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]
chr8	GH08I030059	30059357	30060740	1.14	[{'connected_gene': 'LEPROTL1', 'score': 25.96}, {'connected_gene': 'SARAF', 'score': 11.69}, {'connected_gene': 'DUSP4', 'score': 9.83}, {'connected_gene': 'MBOAT4', 'score': 5.31}, {'connected_gene': 'RNU6-1218P', 'score': 0.37}, {'connected_gene': 'ENSG00000272256', 'score': 0.34}]
chr8	GH08I030141	30141148	30142414	1.06	[{'connected_gene': 'LEPROTL1', 'score': 13.14}, {'connected_gene': 'HSPA8P11', 'score': 12.7}, {'connected_gene': 'SARAF', 'score': 12.19}, {'connected_gene': 'WRN', 'score': 11.76}, {'connected_gene': 'ENSG00000271869', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'RPS15AP24', 'score': 0.34}]
chr8	GH08I030155	30155136	30158594	2.08	[{'connected_gene': 'DCTN6', 'score': 550.77}, {'connected_gene': 'ENSG00000271869', 'score': 550.77}, {'connected_gene': 'MBOAT4', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 24.2}, {'connected_gene': 'LEPROTL1', 'score': 16.59}, {'connected_gene': 'SARAF', 'score': 12.25}, {'connected_gene': 'DUSP4', 'score': 10.55}, {'connected_gene': 'HSPA8P11', 'score': 9.98}]
chr8	GH08I030168	30168678	30170514	0.97	[{'connected_gene': 'RNU6-1218P', 'score': 10.58}, {'connected_gene': 'HSPA8P11', 'score': 6.07}, {'connected_gene': 'LEPROTL1', 'score': 5.4}, {'connected_gene': 'ENSG00000271869', 'score': 5.38}, {'connected_gene': 'ENSG00000253708', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.39}, {'connected_gene': 'MBOAT4', 'score': 0.39}]
chr8	GH08I030419	30419629	30424466	1.59	[{'connected_gene': 'RBPMS-AS1', 'score': 17.44}, {'connected_gene': 'RBPMS', 'score': 13.06}, {'connected_gene': 'GTF2E2', 'score': 4.5}, {'connected_gene': 'MBOAT4', 'score': 2.22}, {'connected_gene': 'PIR31328', 'score': 0.13}]
chr8	GH08I030173	30173123	30173234	0.66	[{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.17}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'MBOAT4', 'score': 0.39}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]
chr8	GH08I030174	30173828	30174454	0.78	[{'connected_gene': 'RBPMS-AS1', 'score': 10.33}, {'connected_gene': 'RBPMS', 'score': 10.33}, {'connected_gene': 'RNU6-1218P', 'score': 10.16}, {'connected_gene': 'ENSG00000253708', 'score': 0.44}, {'connected_gene': 'DCTN6', 'score': 0.37}, {'connected_gene': 'MBOAT4', 'score': 0.37}, {'connected_gene': 'LEPROTL1', 'score': 0.18}]