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
ENST00000306846	[[43526368, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43557181]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43556948]]
ENST00000436644	[[43527193, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43557195]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43556948]]
ENST00000514816	[[43527194, 43527571], [43529898, 43529981], [43533839, 43533894]]	[[43527559, 43527571], [43529898, 43529981], [43533839, 43533894]]
ENST00000338972	[[43527194, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43557441, 43557797]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556030]]
ENST00000514514	[[43527214, 43527571], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43557179]]	[[43527530, 43527571], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43556948]]
ENST00000504639	[[43527246, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43557155]]	[[43536979, 43537046], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43556948]]
ENST00000511321	[[43536955, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43557802, 43557836]]	[[43536955, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556030]]
ENST00000508537	[[43539030, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556304, 43556480]]	[[43539030, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556030]]
ENST00000504075	[[43543162, 43543218], [43547829, 43548015], [43556920, 43557179]]	[[43543162, 43543191]]
ENST00000515338	[[43547829, 43548015], [43555931, 43556063], [43557452, 43557860]]	[[43547829, 43548015], [43555931, 43556030]]
NM_006451	[[43526368, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43557195]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556683, 43556948]]
NM_182789	[[43526368, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43557195]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43556920, 43556948]]
NM_183323	[[43526368, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556101], [43557441, 43557521]]	[[43527477, 43527571], [43529887, 43529981], [43533839, 43533894], [43534954, 43535072], [43535635, 43535742], [43536920, 43537046], [43539025, 43539137], [43543105, 43543218], [43547829, 43548015], [43555931, 43556030]]

Promoter

Chrom	Start	End	Description
chr5	43556857	43556875	CAGE_peak_5_at_PAIP1_5end
chr5	43556916	43556962	CAGE_peak_2_at_PAIP1_5end
chr5	43556964	43556977	CAGE_peak_6_at_PAIP1_5end
chr5	43557095	43557123	CAGE_peak_3_at_PAIP1_5end
chr5	43557129	43557200	CAGE_peak_1_at_PAIP1_5end
chr5	43557476	43557526	CAGE_peak_4_at_PAIP1_5end
chr5	43557791	43557805	CAGE_peak_9_at_PAIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I043033	43033309	43043637	2.75	[{'connected_gene': 'ANXA2R', 'score': 562.74}, {'connected_gene': 'ZNF131', 'score': 34.09}, {'connected_gene': 'ENSG00000249492', 'score': 19.33}, {'connected_gene': 'TMEM267', 'score': 17.9}, {'connected_gene': 'EEF1A1P19', 'score': 12.68}, {'connected_gene': 'AMD1P3', 'score': 12.01}, {'connected_gene': 'RPL29P12', 'score': 11.58}, {'connected_gene': 'LOC153684', 'score': 11.44}, {'connected_gene': 'ENSG00000272382', 'score': 11.14}, {'connected_gene': 'PAIP1', 'score': 10.79}, {'connected_gene': 'ENSG00000248240', 'score': 10.53}, {'connected_gene': 'ENSG00000272144', 'score': 5.18}, {'connected_gene': 'ENSG00000271788', 'score': 5.13}, {'connected_gene': 'NIM1K', 'score': 4.56}, {'connected_gene': 'LOC648987', 'score': 4.16}]
chr5	GH05I043191	43191720	43194537	1.99	[{'connected_gene': 'NIM1K', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 26.51}, {'connected_gene': 'TMEM267', 'score': 23.58}, {'connected_gene': 'EEF1A1P19', 'score': 23.06}, {'connected_gene': 'ENSG00000249492', 'score': 23.04}, {'connected_gene': 'RPL29P12', 'score': 21.61}, {'connected_gene': 'C5orf34', 'score': 21.44}, {'connected_gene': 'LOC153684', 'score': 19.0}, {'connected_gene': 'AMD1P3', 'score': 12.72}, {'connected_gene': 'PAIP1', 'score': 12.27}, {'connected_gene': 'SERBP1P6', 'score': 12.14}, {'connected_gene': 'ENSG00000272382', 'score': 10.47}, {'connected_gene': 'ANXA2R', 'score': 10.17}, {'connected_gene': 'LOC100419037', 'score': 0.39}]
chr5	GH05I043554	43554770	43557978	2.04	[{'connected_gene': 'PAIP1', 'score': 550.77}, {'connected_gene': 'NNT', 'score': 24.58}, {'connected_gene': 'C5orf34', 'score': 21.91}, {'connected_gene': 'ENSG00000249492', 'score': 19.54}, {'connected_gene': 'ENSG00000248240', 'score': 16.59}, {'connected_gene': 'EEF1A1P19', 'score': 12.85}, {'connected_gene': 'NNT-AS1', 'score': 12.14}, {'connected_gene': 'RPL29P12', 'score': 11.68}, {'connected_gene': 'FGF10-AS1', 'score': 10.76}, {'connected_gene': 'LOC153684', 'score': 10.7}, {'connected_gene': 'ENSG00000272382', 'score': 10.4}, {'connected_gene': 'ANXA2R', 'score': 10.09}, {'connected_gene': 'ENSG00000248554', 'score': 9.95}, {'connected_gene': 'ZNF131', 'score': 9.76}, {'connected_gene': 'CCL28', 'score': 7.69}]
chr5	GH05I043336	43336379	43336508	0.87	[{'connected_gene': 'ENSG00000188850', 'score': 550.77}, {'connected_gene': 'TMEM267', 'score': 53.9}, {'connected_gene': 'ZNF131', 'score': 48.4}, {'connected_gene': 'EEF1A1P19', 'score': 23.09}, {'connected_gene': 'AMD1P3', 'score': 22.99}, {'connected_gene': 'RPL29P12', 'score': 21.62}, {'connected_gene': 'ENSG00000249492', 'score': 19.61}, {'connected_gene': 'LOC153684', 'score': 10.73}, {'connected_gene': 'ENSG00000248554', 'score': 10.51}, {'connected_gene': 'ENSG00000272382', 'score': 10.43}, {'connected_gene': 'ENSG00000248240', 'score': 10.21}, {'connected_gene': 'ANXA2R', 'score': 10.12}, {'connected_gene': 'PAIP1', 'score': 9.86}, {'connected_gene': 'NNT', 'score': 4.79}, {'connected_gene': 'CCL28', 'score': 0.18}, {'connected_gene': 'GC05P043232', 'score': 0.15}]