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
ENST00000310473	[[73685711, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689522], [73692520, 73692677], [73693765, 73694352]]	[[73686051, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689423]]
ENST00000536983	[[73685753, 73686166], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689522], [73692520, 73692677], [73693765, 73693875]]	[[73686122, 73686166], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689423]]
ENST00000544615	[[73685896, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689186]]	[[73686051, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689186]]
ENST00000545212	[[73686574, 73686677], [73687685, 73687787], [73687867, 73688051]]	[[73686574, 73686677], [73687685, 73687787], [73687867, 73688051]]
ENST00000545562	[[73687685, 73687787], [73687867, 73688109]]	None
ENST00000543714	[[73689235, 73689522], [73692520, 73692677], [73693765, 73693888]]	None
ENST00000539764	[[73689325, 73689522], [73691716, 73691983]]	[[73689325, 73689423]]
ENST00000542615	[[73689621, 73689879], [73692520, 73692677], [73693765, 73693888]]	None
ENST00000541027	[[73689740, 73689879], [73690980, 73691097], [73692520, 73692677], [73693765, 73693888]]	None
ENST00000539330	[[73692192, 73692677], [73693765, 73693888]]	None
NM_003355	[[73685715, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689522], [73692520, 73692677], [73693765, 73693889]]	[[73686051, 73686166], [73686535, 73686716], [73687685, 73687787], [73687867, 73688062], [73688930, 73689141], [73689297, 73689423]]

Promoter

Chrom	Start	End	Description
chr11	73687914	73687931	CAGE_peak_6_at_UCP2_5end
chr11	73687932	73687955	CAGE_peak_4_at_UCP2_5end
chr11	73687967	73687985	CAGE_peak_7_at_UCP2_5end
chr11	73687997	73688019	CAGE_peak_5_at_UCP2_5end
chr11	73693878	73693896	CAGE_peak_1_at_UCP2_5end
chr11	73694239	73694253	CAGE_peak_2_at_UCP2_5end
chr11	73694257	73694289	CAGE_peak_3_at_UCP2_5end
chr11	73694346	73694357	CAGE_peak_8_at_UCP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I074030	74030107	74031467	0.51	[{'connected_gene': 'UCP3', 'score': 12.33}, {'connected_gene': 'UCP2', 'score': 11.59}, {'connected_gene': 'ENSG00000255847', 'score': 11.16}, {'connected_gene': 'ENSG00000206913', 'score': 9.4}, {'connected_gene': 'P4HA3', 'score': 4.77}, {'connected_gene': 'ENSG00000256098', 'score': 0.14}, {'connected_gene': 'C2CD3', 'score': 0.11}]
chr11	GH11I074009	74009826	74012807	1.7	[{'connected_gene': 'UCP3', 'score': 550.77}, {'connected_gene': 'UCP2', 'score': 15.81}, {'connected_gene': 'FAM168A', 'score': 3.98}, {'connected_gene': 'LIPT2', 'score': 2.98}, {'connected_gene': 'C2CD3', 'score': 1.99}, {'connected_gene': 'ENSG00000256098', 'score': 0.12}]
chr11	GH11I074037	74037126	74037823	0.46	[{'connected_gene': 'UCP2', 'score': 11.56}, {'connected_gene': 'ENSG00000255847', 'score': 10.97}, {'connected_gene': 'UCP3', 'score': 10.96}, {'connected_gene': 'ENSG00000206913', 'score': 9.19}, {'connected_gene': 'C2CD3', 'score': 6.38}, {'connected_gene': 'ENSG00000256098', 'score': 0.15}]
chr11	GH11I074036	74036716	74036865	0.43	[{'connected_gene': 'UCP2', 'score': 11.56}, {'connected_gene': 'ENSG00000255847', 'score': 10.97}, {'connected_gene': 'UCP3', 'score': 10.96}, {'connected_gene': 'ENSG00000206913', 'score': 9.19}, {'connected_gene': 'ENSG00000256098', 'score': 0.14}, {'connected_gene': 'C2CD3', 'score': 0.12}]
chr11	GH11I074066	74066536	74067475	0.67	[{'connected_gene': 'UCP2', 'score': 11.41}, {'connected_gene': 'UCP3', 'score': 0.22}, {'connected_gene': 'ENSG00000256098', 'score': 0.18}, {'connected_gene': 'C2CD3', 'score': 0.15}]
chr11	GH11I073964	73964202	73964999	0.99	[{'connected_gene': 'UCP2', 'score': 5.53}, {'connected_gene': 'ENSG00000255847', 'score': 0.44}, {'connected_gene': 'DNAJB13', 'score': 0.39}]
chr11	GH11I073965	73965133	73966805	0.43	[{'connected_gene': 'UCP2', 'score': 7.5}, {'connected_gene': 'ENSG00000255847', 'score': 0.77}, {'connected_gene': 'DNAJB13', 'score': 0.37}]
chr11	GH11I073968	73968097	73985029	2.52	[{'connected_gene': 'UCP2', 'score': 559.72}, {'connected_gene': 'POLD3', 'score': 27.32}, {'connected_gene': 'ENSG00000206913', 'score': 20.72}, {'connected_gene': 'RNF169', 'score': 20.39}, {'connected_gene': 'UCP3', 'score': 11.68}, {'connected_gene': 'RN7SL239P', 'score': 9.76}, {'connected_gene': 'MRPL48', 'score': 8.49}, {'connected_gene': 'DNAJB13', 'score': 8.09}, {'connected_gene': 'P4HA3', 'score': 7.96}, {'connected_gene': 'PPME1', 'score': 7.74}, {'connected_gene': 'LOC100421622', 'score': 7.26}, {'connected_gene': 'PAAF1', 'score': 6.92}, {'connected_gene': 'ENSG00000255847', 'score': 0.44}]
chr11	GH11I073783	73783145	73785606	1.18	[{'connected_gene': 'RAB6A', 'score': 11.66}, {'connected_gene': 'UCP2', 'score': 5.0}, {'connected_gene': 'MRPL48', 'score': 0.77}]
chr11	GH11I073778	73778610	73781341	1.62	[{'connected_gene': 'MRPL48', 'score': 17.28}, {'connected_gene': 'RAB6A', 'score': 11.77}, {'connected_gene': 'UCP2', 'score': 6.07}, {'connected_gene': 'FAM168A', 'score': 4.74}]
chr11	GH11I073856	73856176	73856325	0.31	[{'connected_gene': 'MRPL48', 'score': 10.6}, {'connected_gene': 'RAB6A', 'score': 10.48}, {'connected_gene': 'ENSG00000256034', 'score': 10.48}, {'connected_gene': 'UCP2', 'score': 6.98}, {'connected_gene': 'CCDC58P5', 'score': 0.44}, {'connected_gene': 'PAAF1', 'score': 0.34}]
chr11	GH11I074068	74068450	74071824	0.9	[{'connected_gene': 'PPME1', 'score': 16.8}, {'connected_gene': 'P4HA3', 'score': 15.93}, {'connected_gene': 'UCP3', 'score': 10.75}, {'connected_gene': 'UCP2', 'score': 10.65}, {'connected_gene': 'ENSG00000256098', 'score': 0.19}, {'connected_gene': 'C2CD3', 'score': 0.15}]
chr11	GH11I074133	74133138	74143376	1.34	[{'connected_gene': 'PPME1', 'score': 32.29}, {'connected_gene': 'P4HA3', 'score': 20.66}, {'connected_gene': 'C2CD3', 'score': 15.15}, {'connected_gene': 'UCP3', 'score': 10.63}, {'connected_gene': 'UCP2', 'score': 10.63}, {'connected_gene': 'ENSG00000206913', 'score': 9.91}, {'connected_gene': 'ENSG00000256098', 'score': 0.77}]
chr11	GH11I073992	73992885	73998299	1.4	[{'connected_gene': 'LOC100421622', 'score': 550.77}, {'connected_gene': 'P4HA3', 'score': 16.52}, {'connected_gene': 'PPME1', 'score': 12.16}, {'connected_gene': 'ENSG00000255847', 'score': 11.91}, {'connected_gene': 'PAAF1', 'score': 5.71}, {'connected_gene': 'UCP2', 'score': 5.06}, {'connected_gene': 'LIPT2', 'score': 4.53}, {'connected_gene': 'C2CD3', 'score': 1.95}, {'connected_gene': 'LOC100037267', 'score': 0.77}]
chr11	GH11I074546	74546307	74547485	0.91	[{'connected_gene': 'KCNE3', 'score': 30.39}, {'connected_gene': 'ENSG00000254974', 'score': 12.24}, {'connected_gene': 'ENSG00000254928', 'score': 10.97}, {'connected_gene': 'ENSG00000206913', 'score': 9.9}, {'connected_gene': 'UCP2', 'score': 5.22}, {'connected_gene': 'LOC105369386', 'score': 0.31}, {'connected_gene': 'POLD3', 'score': 0.23}]
chr11	GH11I073991	73991451	73992235	0.85	[{'connected_gene': 'LOC100037267', 'score': 550.77}, {'connected_gene': 'UCP2', 'score': 0.44}]
chr11	GH11I074014	74014003	74015890	0.38	[{'connected_gene': 'ENSG00000255847', 'score': 12.63}, {'connected_gene': 'UCP2', 'score': 12.4}, {'connected_gene': 'C2CD3', 'score': 10.05}, {'connected_gene': 'PPME1', 'score': 10.05}, {'connected_gene': 'FAM168A', 'score': 3.97}, {'connected_gene': 'UCP3', 'score': 0.44}, {'connected_gene': 'ENSG00000256098', 'score': 0.13}]