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
ENST00000326291	[[73356196, 73356487], [73357560, 73357859], [73366584, 73366685], [73369496, 73369695], [73372044, 73372164], [73395986, 73396120], [73401147, 73401256], [73401870, 73402052], [73409380, 73409506], [73428194, 73428293], [73467921, 73468087], [73482668, 73482819], [73491213, 73491304], [73505302, 73505405], [73539411, 73539542], [73547728, 73547813], [73572959, 73573133], [73590006, 73590591]]	[[73357607, 73357859], [73366584, 73366685], [73369496, 73369695], [73372044, 73372164], [73395986, 73396120], [73401147, 73401256], [73401870, 73402052], [73409380, 73409506], [73428194, 73428293], [73467921, 73468087], [73482668, 73482819], [73491213, 73491304], [73505302, 73505405], [73539411, 73539542], [73547728, 73547813], [73572959, 73573133], [73590006, 73590057]]
ENST00000492803	[[73372046, 73372164], [73395986, 73396120], [73401147, 73401256], [73409380, 73409414]]	None
ENST00000489797	[[73356291, 73356487], [73366584, 73366685], [73369496, 73369695], [73372044, 73372164]]	None
ENST00000486330	[[73458581, 73458809], [73467921, 73468009]]	None
ENST00000489922	[[73543740, 73543764], [73544690, 73544846], [73547728, 73547813], [73572959, 73573133], [73590006, 73590199]]	None
ENST00000469712	[[73543776, 73543891], [73547728, 73547813], [73572959, 73573133], [73590006, 73590206]]	None
NM_006346	[[73356229, 73356487], [73357560, 73357859], [73366584, 73366685], [73369496, 73369695], [73372044, 73372164], [73395986, 73396120], [73401147, 73401256], [73401870, 73402052], [73409380, 73409506], [73428194, 73428293], [73467921, 73468087], [73482668, 73482819], [73491213, 73491304], [73505302, 73505405], [73539411, 73539542], [73547728, 73547813], [73572959, 73573133], [73590006, 73590592]]	[[73357607, 73357859], [73366584, 73366685], [73369496, 73369695], [73372044, 73372164], [73395986, 73396120], [73401147, 73401256], [73401870, 73402052], [73409380, 73409506], [73428194, 73428293], [73467921, 73468087], [73482668, 73482819], [73491213, 73491304], [73505302, 73505405], [73539411, 73539542], [73547728, 73547813], [73572959, 73573133], [73590006, 73590057]]

Promoter

Chrom	Start	End	Description
chr13	73356205	73356221	CAGE_peak_3_at_PIBF1_5end
chr13	73356254	73356283	CAGE_peak_1_at_PIBF1_5end
chr13	73356286	73356317	CAGE_peak_2_at_PIBF1_5end
chr13	73356377	73356382	CAGE_peak_5_at_PIBF1_5end
chr13	73356393	73356404	CAGE_peak_4_at_PIBF1_5end
chr13	73458552	73458595	CAGE_peak_6_at_PIBF1_5end
chr13	73543768	73543780	CAGE_peak_7_at_PIBF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I072726	72726363	72729523	2.04	[{'connected_gene': 'BORA', 'score': 572.19}, {'connected_gene': 'MZT1', 'score': 558.82}, {'connected_gene': 'DIS3', 'score': 11.97}, {'connected_gene': 'PIBF1', 'score': 6.28}]
chr13	GH13I073039	73039073	73042394	0.96	[{'connected_gene': 'BORA', 'score': 9.81}, {'connected_gene': 'PIBF1', 'score': 5.43}, {'connected_gene': 'PSMD10P3', 'score': 0.77}, {'connected_gene': 'KLF5', 'score': 0.39}]
chr13	GH13I073035	73035987	73036863	0.31	[{'connected_gene': 'PSMD10P3', 'score': 550.77}, {'connected_gene': 'PIBF1', 'score': 4.86}, {'connected_gene': 'KLF5', 'score': 0.37}]
chr13	GH13I073036	73035743	73035892	0.31	[{'connected_gene': 'PSMD10P3', 'score': 550.77}, {'connected_gene': 'PIBF1', 'score': 5.17}, {'connected_gene': 'GC13M072950', 'score': 0.18}]
chr13	GH13I072970	72970083	72971902	0.65	[{'connected_gene': 'DIS3', 'score': 26.97}, {'connected_gene': 'PIBF1', 'score': 18.02}, {'connected_gene': 'BORA', 'score': 13.07}, {'connected_gene': 'GC13M072950', 'score': 0.37}, {'connected_gene': 'PSMD10P3', 'score': 0.2}]
chr13	GH13I072319	72319590	72319770	0.22	[{'connected_gene': 'DACH1', 'score': 3.0}, {'connected_gene': 'PIBF1', 'score': 1.42}, {'connected_gene': 'GC13P072290', 'score': 0.31}, {'connected_gene': 'GC13P072432', 'score': 0.14}]
chr13	GH13I072661	72661293	72661606	0.4	[{'connected_gene': 'PIBF1', 'score': 5.4}, {'connected_gene': 'MZT1', 'score': 5.07}, {'connected_gene': 'RPL21P110', 'score': 0.26}, {'connected_gene': 'ENSG00000199282', 'score': 0.19}]
chr13	GH13I072982	72982687	72984252	0.89	[{'connected_gene': 'PIBF1', 'score': 4.99}, {'connected_gene': 'GC13M072950', 'score': 0.29}, {'connected_gene': 'PSMD10P3', 'score': 0.23}]
chr13	GH13I072999	72999758	73000824	0.8	[{'connected_gene': 'PIBF1', 'score': 6.78}, {'connected_gene': 'PSMD10P3', 'score': 0.28}, {'connected_gene': 'GC13M072950', 'score': 0.25}]
chr13	GH13I072952	72952903	72954352	0.43	[{'connected_gene': 'PIBF1', 'score': 6.44}, {'connected_gene': 'GC13M072950', 'score': 0.77}, {'connected_gene': 'PSMD10P3', 'score': 0.18}]
chr13	GH13I072959	72959225	72961557	0.77	[{'connected_gene': 'PIBF1', 'score': 6.68}, {'connected_gene': 'GC13M072950', 'score': 0.44}, {'connected_gene': 'PSMD10P3', 'score': 0.18}]
chr13	GH13I072985	72985411	72986528	0.46	[{'connected_gene': 'PIBF1', 'score': 4.58}, {'connected_gene': 'GC13M072950', 'score': 0.29}, {'connected_gene': 'PSMD10P3', 'score': 0.23}]
chr13	GH13I072779	72779201	72779600	0.2	[{'connected_gene': 'PIBF1', 'score': 7.9}, {'connected_gene': 'DIS3', 'score': 0.77}, {'connected_gene': 'MZT1', 'score': 0.23}]
chr13	GH13I073187	73187401	73188898	0.49	[{'connected_gene': 'PIBF1', 'score': 14.17}, {'connected_gene': 'DIS3', 'score': 10.54}, {'connected_gene': 'GC13P073192', 'score': 0.77}, {'connected_gene': 'GC13M073184', 'score': 0.37}, {'connected_gene': 'RNU7-89P', 'score': 0.34}]
chr13	GH13I072821	72820803	72820852	0.59	[{'connected_gene': 'PIBF1', 'score': 11.0}, {'connected_gene': 'DIS3', 'score': 10.43}, {'connected_gene': 'GC13M072882', 'score': 0.21}, {'connected_gene': 'RNU6-79P', 'score': 0.21}]
chr13	GH13I072820	72820928	72820952	0.46	[{'connected_gene': 'PIBF1', 'score': 11.0}, {'connected_gene': 'DIS3', 'score': 10.43}, {'connected_gene': 'GC13M072882', 'score': 0.21}, {'connected_gene': 'RNU6-79P', 'score': 0.21}]
chr13	GH13I072780	72780507	72783757	2.02	[{'connected_gene': 'PIBF1', 'score': 557.1}, {'connected_gene': 'DIS3', 'score': 550.77}]
chr13	GH13I073393	73393601	73394068	0.31	[{'connected_gene': 'PIBF1', 'score': 4.12}, {'connected_gene': 'GC13P073400', 'score': 0.44}, {'connected_gene': 'GC13P073401', 'score': 0.44}, {'connected_gene': 'RNY1P8', 'score': 0.1}]
chr13	GH13I072863	72863794	72865871	0.54	[{'connected_gene': 'PIBF1', 'score': 13.47}, {'connected_gene': 'GC13M072882', 'score': 0.37}, {'connected_gene': 'RNU6-79P', 'score': 0.37}, {'connected_gene': 'DIS3', 'score': 0.18}]
chr13	GH13I072919	72919331	72920853	0.2	[{'connected_gene': 'PIBF1', 'score': 6.82}, {'connected_gene': 'PIR58023', 'score': 0.34}, {'connected_gene': 'GC13M072950', 'score': 0.29}]
chr13	GH13I072649	72649162	72649554	0.48	[{'connected_gene': 'ENSG00000199282', 'score': 11.54}, {'connected_gene': 'PIBF1', 'score': 5.67}, {'connected_gene': 'RPL21P110', 'score': 0.23}]
chr13	GH13I072650	72650262	72651768	0.89	[{'connected_gene': 'ENSG00000199282', 'score': 11.54}, {'connected_gene': 'PIBF1', 'score': 5.47}, {'connected_gene': 'RPL21P110', 'score': 0.23}]
chr13	GH13I072544	72544135	72544337	0.22	[{'connected_gene': 'ENSG00000199282', 'score': 11.38}, {'connected_gene': 'PIBF1', 'score': 1.77}, {'connected_gene': 'ENSG00000278113', 'score': 0.34}, {'connected_gene': 'GC13P072511', 'score': 0.28}]