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
ENST00000367470	[[186344889, 186345106], [186348898, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186390499]]	[[186348917, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388208]]
ENST00000419367	[[186344954, 186345106], [186348898, 186349016], [186352153, 186352288], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186363078, 186363147], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388683]]	[[186348917, 186349016], [186352153, 186352288], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186363078, 186363147], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388208]]
ENST00000287859	[[186345000, 186345106], [186348898, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186363078, 186363147], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186390510]]	[[186348917, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186363078, 186363147], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388208]]
ENST00000432021	[[186348917, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388208]]	[[186348917, 186349016], [186352153, 186352288], [186355119, 186355215], [186357573, 186357680], [186358719, 186358756], [186359842, 186359983], [186360827, 186360923], [186367444, 186367573], [186368085, 186368176], [186375214, 186375400], [186386675, 186386786], [186388140, 186388208]]
ENST00000478571	[[186367551, 186367573], [186368085, 186368176], [186375214, 186375400], [186380942, 186381025]]	None
ENST00000461662	[[186386508, 186386786], [186388140, 186388365]]	None

Promoter

Chrom	Start	End	Description
chr1	186344422	186344429	CAGE_peak_13_at_C1orf27_5end
chr1	186344666	186344694	CAGE_peak_4_at_C1orf27_5end
chr1	186344883	186344903	CAGE_peak_3_at_C1orf27_5end
chr1	186344904	186344925	CAGE_peak_2_at_C1orf27_5end
chr1	186344945	186345054	CAGE_peak_1_at_C1orf27_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I186654	186654697	186655098	0.41	[{'connected_gene': 'TPR', 'score': 14.74}, {'connected_gene': 'PTGS2', 'score': 12.56}, {'connected_gene': 'ENSG00000273198', 'score': 7.12}, {'connected_gene': 'PLA2G4A', 'score': 3.8}, {'connected_gene': 'ODR4', 'score': 1.63}, {'connected_gene': 'GC01P186644', 'score': 0.39}, {'connected_gene': 'GC01P186643', 'score': 0.39}]
chr1	GH01I186373	186373510	186377187	2.13	[{'connected_gene': 'TPR', 'score': 625.41}, {'connected_gene': 'ODR4', 'score': 558.18}, {'connected_gene': 'OCLM', 'score': 48.51}, {'connected_gene': 'ENSG00000228238', 'score': 5.29}, {'connected_gene': 'GC01P186372', 'score': 0.77}, {'connected_gene': 'GC01M186369', 'score': 0.18}]
chr1	GH01I186620	186620486	186621873	0.81	[{'connected_gene': 'PTGS2', 'score': 9.27}, {'connected_gene': 'ODR4', 'score': 7.78}, {'connected_gene': 'PLA2G4A', 'score': 1.87}, {'connected_gene': 'GC01P186627', 'score': 0.77}, {'connected_gene': 'GC01P186626', 'score': 0.77}, {'connected_gene': 'LOC100131939', 'score': 0.28}]
chr1	GH01I186617	186617801	186619200	1.26	[{'connected_gene': 'PTGS2', 'score': 12.55}, {'connected_gene': 'ODR4', 'score': 7.88}, {'connected_gene': 'PACERR', 'score': 6.62}, {'connected_gene': 'PLA2G4A', 'score': 2.05}, {'connected_gene': 'GC01P186627', 'score': 0.44}, {'connected_gene': 'GC01P186626', 'score': 0.44}, {'connected_gene': 'LOC100131939', 'score': 0.28}]
chr1	GH01I186738	186738240	186738507	0.22	[{'connected_gene': 'PTGS2', 'score': 10.2}, {'connected_gene': 'PLA2G4A', 'score': 9.07}, {'connected_gene': 'ODR4', 'score': 1.65}, {'connected_gene': 'PACERR', 'score': 0.22}]
chr1	GH01I186740	186740443	186740610	0.58	[{'connected_gene': 'PTGS2', 'score': 13.09}, {'connected_gene': 'PLA2G4A', 'score': 3.12}, {'connected_gene': 'ODR4', 'score': 1.24}, {'connected_gene': 'PACERR', 'score': 0.22}]
chr1	GH01I186655	186655887	186656267	0.69	[{'connected_gene': 'PTGS2', 'score': 14.75}, {'connected_gene': 'PLA2G4A', 'score': 3.67}, {'connected_gene': 'ODR4', 'score': 1.68}, {'connected_gene': 'GC01P186644', 'score': 0.39}, {'connected_gene': 'GC01P186643', 'score': 0.39}]
chr1	GH01I186739	186738673	186739302	0.54	[{'connected_gene': 'PTGS2', 'score': 13.1}, {'connected_gene': 'PLA2G4A', 'score': 10.8}, {'connected_gene': 'PACERR', 'score': 7.14}, {'connected_gene': 'ODR4', 'score': 2.1}]
chr1	GH01I186658	186658734	186658849	0.22	[{'connected_gene': 'ODR4', 'score': 6.87}, {'connected_gene': 'PTGS2', 'score': 6.08}, {'connected_gene': 'PLA2G4A', 'score': 1.56}, {'connected_gene': 'GC01P186644', 'score': 0.37}, {'connected_gene': 'GC01P186643', 'score': 0.37}]
chr1	GH01I186473	186473643	186475336	0.38	[{'connected_gene': 'ODR4', 'score': 10.28}, {'connected_gene': 'ENSG00000273198', 'score': 7.54}, {'connected_gene': 'PDC', 'score': 0.39}]
chr1	GH01I186404	186404169	186405519	0.65	[{'connected_gene': 'ODR4', 'score': 10.92}, {'connected_gene': 'OCLM', 'score': 0.77}, {'connected_gene': 'GC01P186425', 'score': 0.34}, {'connected_gene': 'GC01M186369', 'score': 0.25}]
chr1	GH01I186302	186302980	186306885	0.66	[{'connected_gene': 'ODR4', 'score': 10.8}, {'connected_gene': 'GC01M186320', 'score': 0.44}, {'connected_gene': 'RNU6-1240P', 'score': 0.44}, {'connected_gene': 'PRG4', 'score': 0.44}]
chr1	GH01I186734	186734860	186737598	0.49	[{'connected_gene': 'ODR4', 'score': 7.29}, {'connected_gene': 'PACERR', 'score': 0.22}, {'connected_gene': 'PLA2G4A', 'score': 0.16}]
chr1	GH01I186440	186440168	186441195	0.49	[{'connected_gene': 'ODR4', 'score': 10.17}, {'connected_gene': 'LOC102724919', 'score': 0.44}, {'connected_gene': 'GC01M186369', 'score': 0.39}]
chr1	GH01I186535	186535309	186537157	0.69	[{'connected_gene': 'ODR4', 'score': 9.11}, {'connected_gene': 'ENSG00000273198', 'score': 7.5}, {'connected_gene': 'LOC100131939', 'score': 4.3}, {'connected_gene': 'ENSG00000228238', 'score': 0.26}]
chr1	GH01I186848	186848532	186850292	1.53	[{'connected_gene': 'PLA2G4A', 'score': 567.64}, {'connected_gene': 'ODR4', 'score': 22.59}, {'connected_gene': 'ENSG00000228238', 'score': 20.89}, {'connected_gene': 'PTGS2', 'score': 9.3}, {'connected_gene': 'GC01P187071', 'score': 0.07}]
chr1	GH01I186081	186081789	186083745	1.44	[{'connected_gene': 'OCLM', 'score': 14.07}, {'connected_gene': 'TPR', 'score': 12.65}, {'connected_gene': 'ODR4', 'score': 11.33}, {'connected_gene': 'HMCN1', 'score': 9.22}, {'connected_gene': 'PDC', 'score': 1.32}, {'connected_gene': 'ENSG00000224691', 'score': 0.16}, {'connected_gene': 'GC01M185927', 'score': 0.1}]
chr1	GH01I185374	185374659	185377759	1.19	[{'connected_gene': 'IVNS1ABP', 'score': 35.59}, {'connected_gene': 'EDEM3', 'score': 12.85}, {'connected_gene': 'TPR', 'score': 12.62}, {'connected_gene': 'RNU7-183P', 'score': 11.36}, {'connected_gene': 'ODR4', 'score': 11.3}, {'connected_gene': 'FAM129A', 'score': 11.28}, {'connected_gene': 'SWT1', 'score': 8.84}, {'connected_gene': 'LOC100422414', 'score': 5.45}, {'connected_gene': 'RNF2', 'score': 5.12}, {'connected_gene': 'TRMT1L', 'score': 1.21}, {'connected_gene': 'LOC102724897', 'score': 0.44}]
chr1	GH01I185438	185438872	185443444	1.42	[{'connected_gene': 'IVNS1ABP', 'score': 21.29}, {'connected_gene': 'ODR4', 'score': 11.64}, {'connected_gene': 'SWT1', 'score': 3.17}, {'connected_gene': 'RNF2', 'score': 2.95}, {'connected_gene': 'MCRIP2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000279401', 'score': 0.18}]
chr1	GH01I186626	186626092	186627563	0.2	[{'connected_gene': 'GC01P186627', 'score': 550.77}, {'connected_gene': 'GC01P186626', 'score': 550.77}, {'connected_gene': 'ODR4', 'score': 8.8}, {'connected_gene': 'GC01P186644', 'score': 0.37}, {'connected_gene': 'GC01P186643', 'score': 0.37}]
chr1	GH01I186558	186558617	186561446	0.49	[{'connected_gene': 'ENSG00000273198', 'score': 7.38}, {'connected_gene': 'ODR4', 'score': 6.82}, {'connected_gene': 'ENSG00000228238', 'score': 0.37}]