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
ENST00000315567	[[78783673, 78784033], [78792897, 78793009], [78804395, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78870950, 78871032], [78873642, 78873944]]	[[78784002, 78784033], [78792897, 78793009], [78804395, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78870950, 78871032], [78873642, 78873761]]
ENST00000515625	[[78783983, 78784033], [78804395, 78804652]]	None
ENST00000511521	[[78784021, 78784167], [78792897, 78793009], [78804395, 78804654], [78806409, 78806472]]	None
ENST00000502384	[[78804392, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78873642, 78873903]]	[[78804392, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78873642, 78873699]]
ENST00000506674	[[78804402, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78828099, 78828364], [78830419, 78830466]]	None
ENST00000504901	[[78829478, 78829529], [78830419, 78830526], [78870950, 78871032], [78873642, 78873937]]	[[78829478, 78829529], [78830419, 78830526], [78870950, 78871032], [78873642, 78873761]]
NM_020236	[[78783804, 78784033], [78792897, 78793009], [78804395, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78870950, 78871032], [78873642, 78873944]]	[[78784002, 78784033], [78792897, 78793009], [78804395, 78804654], [78806409, 78806493], [78808373, 78808445], [78815292, 78815404], [78830419, 78830526], [78870950, 78871032], [78873642, 78873761]]

Promoter

Chrom	Start	End	Description
chr4	78783292	78783310	CAGE_peak_4_at_MRPL1_5end
chr4	78783861	78783876	CAGE_peak_3_at_MRPL1_5end
chr4	78783882	78783912	CAGE_peak_2_at_MRPL1_5end
chr4	78783972	78784001	CAGE_peak_1_at_MRPL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I077860	77860527	77864402	2.32	[{'connected_gene': 'MRPL1', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 82.19}, {'connected_gene': 'SERBP1P5', 'score': 24.82}, {'connected_gene': 'RPL7P17', 'score': 11.09}, {'connected_gene': 'ENSG00000250214', 'score': 0.77}]
chr4	GH04I076947	76947523	76952978	2.48	[{'connected_gene': 'SEPT11', 'score': 556.06}, {'connected_gene': 'GC04M076939', 'score': 550.77}, {'connected_gene': 'LOC105377294', 'score': 550.77}, {'connected_gene': 'NUP54', 'score': 20.62}, {'connected_gene': 'SDAD1', 'score': 16.32}, {'connected_gene': 'SOWAHB', 'score': 10.01}, {'connected_gene': 'RPL7P17', 'score': 9.9}, {'connected_gene': 'CNOT6L', 'score': 9.89}, {'connected_gene': 'MRPL1', 'score': 5.69}, {'connected_gene': 'GC04P076953', 'score': 0.77}]
chr4	GH04I077880	77880467	77883096	0.82	[{'connected_gene': 'CNOT6L', 'score': 30.3}, {'connected_gene': 'FRAS1', 'score': 4.93}, {'connected_gene': 'HMGB1P44', 'score': 4.88}, {'connected_gene': 'MRPL1', 'score': 0.37}, {'connected_gene': 'ENSG00000250214', 'score': 0.37}, {'connected_gene': 'LOC102724916', 'score': 0.19}]
chr4	GH04I077827	77826402	77826536	0.4	[{'connected_gene': 'CNOT6L', 'score': 0.44}, {'connected_gene': 'MRPL1', 'score': 0.28}]
chr4	GH04I077858	77858353	77860220	0.54	[{'connected_gene': 'CNOT6L', 'score': 38.52}, {'connected_gene': 'MRPL1', 'score': 0.77}]
chr4	GH04I077856	77856387	77857599	0.6	[{'connected_gene': 'CNOT6L', 'score': 44.8}, {'connected_gene': 'MRPL1', 'score': 0.77}]
chr4	GH04I077917	77917004	77917967	0.2	[{'connected_gene': 'CNOT6L', 'score': 24.6}, {'connected_gene': 'LOC102724916', 'score': 0.28}, {'connected_gene': 'ENSG00000250214', 'score': 0.23}, {'connected_gene': 'MRPL1', 'score': 0.22}]
chr4	GH04I077816	77816358	77824361	2.77	[{'connected_gene': 'CNOT6L', 'score': 620.02}, {'connected_gene': 'RPL7P17', 'score': 11.09}, {'connected_gene': 'FRAS1', 'score': 5.12}, {'connected_gene': 'MRPL1', 'score': 0.26}]
chr4	GH04I077927	77927976	77928816	0.97	[{'connected_gene': 'CNOT6L', 'score': 20.04}, {'connected_gene': 'RPL7P17', 'score': 11.92}, {'connected_gene': 'LOC102724916', 'score': 0.34}, {'connected_gene': 'ENSG00000250214', 'score': 0.21}, {'connected_gene': 'MRPL1', 'score': 0.2}]
chr4	GH04I077826	77826678	77828717	0.51	[{'connected_gene': 'CNOT6L', 'score': 32.95}, {'connected_gene': 'HMGB1P44', 'score': 7.22}, {'connected_gene': 'MRPL1', 'score': 0.29}]
chr4	GH04I077851	77851721	77855764	1.19	[{'connected_gene': 'CNOT6L', 'score': 43.71}, {'connected_gene': 'HMGB1P44', 'score': 5.05}, {'connected_gene': 'MRPL1', 'score': 0.44}]
chr4	GH04I077920	77920229	77924036	1.24	[{'connected_gene': 'CNOT6L', 'score': 24.35}, {'connected_gene': 'HMGB1P44', 'score': 4.73}, {'connected_gene': 'LOC102724916', 'score': 0.29}, {'connected_gene': 'ENSG00000250214', 'score': 0.22}, {'connected_gene': 'MRPL1', 'score': 0.21}]
chr4	GH04I077930	77930746	77932650	0.58	[{'connected_gene': 'CNOT6L', 'score': 23.9}, {'connected_gene': 'HMGB1P44', 'score': 4.81}, {'connected_gene': 'LOC102724916', 'score': 0.34}, {'connected_gene': 'MRPL1', 'score': 0.2}, {'connected_gene': 'ENSG00000250214', 'score': 0.2}]
chr4	GH04I077893	77893401	77893800	0.46	[{'connected_gene': 'ENSG00000250214', 'score': 0.31}, {'connected_gene': 'MRPL1', 'score': 0.29}, {'connected_gene': 'LOC102724916', 'score': 0.22}]
chr4	GH04I077902	77902383	77902598	0.24	[{'connected_gene': 'ENSG00000250214', 'score': 0.28}, {'connected_gene': 'MRPL1', 'score': 0.26}, {'connected_gene': 'LOC102724916', 'score': 0.23}]