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
ENST00000514924	[[41258429, 41258504], [41258609, 41258778], [41258966, 41259026], [41259131, 41259143], [41259625, 41259754]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754]]
ENST00000503431	[[41258785, 41258820], [41258966, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270273]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270090]]
ENST00000284440	[[41258849, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270446]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270090]]
ENST00000381760	[[41258924, 41259026], [41259131, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270445]]	None
ENST00000512419	[[41258927, 41259037], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270472]]	[[41258993, 41259037], [41259625, 41259754], [41262663, 41262700]]
ENST00000505232	[[41258948, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265245, 41265308], [41266119, 41266178], [41270003, 41270125]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265245, 41265257]]
ENST00000504818	[[41258949, 41259026], [41259390, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940]]	None
ENST00000508768	[[41258956, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41265241, 41265308], [41266119, 41266178], [41270003, 41270256]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41265241, 41265308], [41266119, 41266178], [41270003, 41270090]]
ENST00000512788	[[41258961, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266207], [41270003, 41270142]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266207], [41270003, 41270115]]
ENST00000472501	[[41258962, 41259037], [41259131, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270444]]	None
ENST00000514764	[[41262655, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270446]]	None
ENST00000510566	[[41263755, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266482]]	None
NM_004181	[[41258897, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270446]]	[[41258993, 41259026], [41259131, 41259143], [41259625, 41259754], [41262663, 41262814], [41263731, 41263817], [41263892, 41263940], [41265241, 41265308], [41266119, 41266178], [41270003, 41270090]]

Promoter

Chrom	Start	End	Description
chr4	41258938	41258954	CAGE_peak_1_at_UCHL1_5end
chr4	41259142	41259146	CAGE_peak_5_at_UCHL1_5end
chr4	41259402	41259415	CAGE_peak_3_at_UCHL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I041281	41281144	41281293	0.71	[{'connected_gene': 'UCHL1', 'score': 21.43}, {'connected_gene': 'LIMCH1', 'score': 12.0}, {'connected_gene': 'LOC105374421', 'score': 11.86}, {'connected_gene': 'UCHL1-AS1', 'score': 11.06}, {'connected_gene': 'GC04P041269', 'score': 0.39}, {'connected_gene': 'PIR50176', 'score': 0.39}, {'connected_gene': 'GC04M041303', 'score': 0.34}, {'connected_gene': 'ENSG00000207481', 'score': 0.34}]
chr4	GH04I041256	41256244	41259065	1.92	[{'connected_gene': 'UCHL1', 'score': 561.77}, {'connected_gene': 'UCHL1-AS1', 'score': 550.77}, {'connected_gene': 'SLC30A9', 'score': 10.76}, {'connected_gene': 'GC04P041269', 'score': 0.39}, {'connected_gene': 'PIR50176', 'score': 0.39}]
chr4	GH04I040625	40625388	40632600	2.12	[{'connected_gene': 'RBM47', 'score': 550.77}, {'connected_gene': 'UCHL1', 'score': 4.49}, {'connected_gene': 'MIR4802', 'score': 0.13}]
chr4	GH04I041211	41211604	41217882	2.26	[{'connected_gene': 'APBB2', 'score': 560.33}, {'connected_gene': 'ATP1B1P1', 'score': 16.21}, {'connected_gene': 'UCHL1-AS1', 'score': 11.5}, {'connected_gene': 'UCHL1', 'score': 11.5}, {'connected_gene': 'ENSG00000250906', 'score': 11.46}, {'connected_gene': 'SLC30A9', 'score': 10.55}, {'connected_gene': 'RNU6-1195P', 'score': 0.15}]
chr4	GH04I040976	40976201	40976800	1	[{'connected_gene': 'APBB2', 'score': 12.36}, {'connected_gene': 'RNU6-836P', 'score': 10.33}, {'connected_gene': 'UCHL1-AS1', 'score': 10.1}, {'connected_gene': 'UCHL1', 'score': 10.1}, {'connected_gene': 'RNA5SP160', 'score': 0.39}, {'connected_gene': 'GC04M040906', 'score': 0.2}]
chr4	GH04I040989	40989600	40995531	1.52	[{'connected_gene': 'APBB2', 'score': 17.03}, {'connected_gene': 'UCHL1-AS1', 'score': 9.74}, {'connected_gene': 'UCHL1', 'score': 9.74}, {'connected_gene': 'RBM47', 'score': 2.98}, {'connected_gene': 'RNA5SP160', 'score': 0.77}, {'connected_gene': 'GC04M041050', 'score': 0.22}]
chr4	GH04I041327	41327864	41328033	0.38	[{'connected_gene': 'LIMCH1', 'score': 12.31}, {'connected_gene': 'UCHL1', 'score': 5.17}, {'connected_gene': 'GC04M041303', 'score': 0.34}, {'connected_gene': 'ENSG00000207481', 'score': 0.34}]
chr4	GH04I041317	41317556	41321690	1.02	[{'connected_gene': 'LIMCH1', 'score': 23.66}, {'connected_gene': 'UCHL1', 'score': 4.84}, {'connected_gene': 'GC04M041303', 'score': 0.37}, {'connected_gene': 'ENSG00000207481', 'score': 0.37}]
chr4	GH04I040998	40998046	40999705	0.96	[{'connected_gene': 'RNU6-836P', 'score': 10.12}, {'connected_gene': 'UCHL1-AS1', 'score': 9.74}, {'connected_gene': 'UCHL1', 'score': 9.74}, {'connected_gene': 'RBM47', 'score': 4.69}, {'connected_gene': 'RNA5SP160', 'score': 0.44}, {'connected_gene': 'GC04M041050', 'score': 0.23}, {'connected_gene': 'APBB2', 'score': 0.08}]
chr4	GH04I041185	41185601	41186200	0.4	[{'connected_gene': 'RNU6-836P', 'score': 10.56}, {'connected_gene': 'UCHL1-AS1', 'score': 9.87}, {'connected_gene': 'UCHL1', 'score': 9.87}, {'connected_gene': 'APBB2', 'score': 0.29}, {'connected_gene': 'RNU6-1195P', 'score': 0.19}]
chr4	GH04I041346	41346338	41347373	1.04	[{'connected_gene': 'SLC30A9', 'score': 28.73}, {'connected_gene': 'LIMCH1', 'score': 20.8}, {'connected_gene': 'UCHL1', 'score': 11.73}, {'connected_gene': 'ATP1B1P1', 'score': 9.67}, {'connected_gene': 'GC04M041303', 'score': 0.26}, {'connected_gene': 'ENSG00000207481', 'score': 0.26}]
chr4	GH04I041856	41856993	41857795	0.93	[{'connected_gene': 'UCHL1-AS1', 'score': 9.67}, {'connected_gene': 'UCHL1', 'score': 9.67}, {'connected_gene': 'PHOX2B', 'score': 4.95}, {'connected_gene': 'HMGB1P28', 'score': 0.39}, {'connected_gene': 'LINC00682', 'score': 0.31}]
chr4	GH04I041164	41164409	41165845	0.64	[{'connected_gene': 'UCHL1-AS1', 'score': 9.45}, {'connected_gene': 'UCHL1', 'score': 9.45}, {'connected_gene': 'APBB2', 'score': 0.23}, {'connected_gene': 'RNU6-1195P', 'score': 0.23}]
chr4	GH04I041101	41101953	41103466	0.52	[{'connected_gene': 'UCHL1-AS1', 'score': 9.46}, {'connected_gene': 'UCHL1', 'score': 9.46}, {'connected_gene': 'GC04P041113', 'score': 0.39}, {'connected_gene': 'GC04P041085', 'score': 0.37}, {'connected_gene': 'APBB2', 'score': 0.14}]