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
ENST00000370665	[[84864214, 84864372], [84867583, 84867761], [84874119, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880701]]	[[84864247, 84864372], [84867583, 84867761], [84874119, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880551]]
ENST00000370662	[[84873912, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880691]]	[[84878108, 84878229], [84880210, 84880551]]
NM_021233	[[84864214, 84864372], [84867583, 84867761], [84874119, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880691]]	[[84864247, 84864372], [84867583, 84867761], [84874119, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880551]]
NM_058248	[[84874033, 84874201], [84876520, 84876682], [84878031, 84878229], [84880210, 84880691]]	[[84878108, 84878229], [84880210, 84880551]]

Promoter

Chrom	Start	End	Description
chr1	84873943	84873958	CAGE_peak_2_at_DNASE2B_5end
chr1	84873992	84873997	CAGE_peak_4_at_DNASE2B_5end
chr1	84874012	84874020	CAGE_peak_5_at_DNASE2B_5end
chr1	84874026	84874036	CAGE_peak_3_at_DNASE2B_5end
chr1	84874085	84874144	CAGE_peak_1_at_DNASE2B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I084412	84412421	84413132	0.31	[{'connected_gene': 'RPF1', 'score': 10.56}, {'connected_gene': 'DNASE2B', 'score': 0.39}, {'connected_gene': 'GC01M084333', 'score': 0.34}]
chr1	GH01I084442	84442200	84443001	0.98	[{'connected_gene': 'RPF1', 'score': 12.0}, {'connected_gene': 'DNASE2B', 'score': 8.38}, {'connected_gene': 'GC01M084333', 'score': 0.44}]
chr1	GH01I084641	84641335	84644484	0.63	[{'connected_gene': 'RPF1', 'score': 10.36}, {'connected_gene': 'LPAR3', 'score': 10.34}, {'connected_gene': 'DNASE2B', 'score': 9.57}, {'connected_gene': 'UOX', 'score': 9.57}, {'connected_gene': 'SSX2IP', 'score': 6.25}, {'connected_gene': 'ENSG00000232622', 'score': 0.44}]
chr1	GH01I084379	84378652	84378785	0.22	[{'connected_gene': 'DNASE2B', 'score': 12.51}, {'connected_gene': 'ENSG00000199959', 'score': 9.92}, {'connected_gene': 'RPF1', 'score': 9.8}, {'connected_gene': 'SSX2IP', 'score': 5.67}, {'connected_gene': 'SAMD13', 'score': 2.54}, {'connected_gene': 'GNG5', 'score': 1.52}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.31}, {'connected_gene': 'GC01M084333', 'score': 0.22}]
chr1	GH01I084268	84268873	84270229	0.2	[{'connected_gene': 'DNASE2B', 'score': 9.72}, {'connected_gene': 'UOX', 'score': 9.72}, {'connected_gene': 'RPF1', 'score': 9.52}, {'connected_gene': 'SYDE2', 'score': 4.36}, {'connected_gene': 'SAMD13', 'score': 0.44}, {'connected_gene': 'GC01P084245', 'score': 0.31}, {'connected_gene': 'GC01M084160', 'score': 0.18}]
chr1	GH01I084270	84270552	84273779	0.86	[{'connected_gene': 'DNASE2B', 'score': 9.79}, {'connected_gene': 'UOX', 'score': 9.79}, {'connected_gene': 'RPF1', 'score': 9.52}, {'connected_gene': 'SYDE2', 'score': 4.38}, {'connected_gene': 'SAMD13', 'score': 0.77}, {'connected_gene': 'GC01P084245', 'score': 0.31}, {'connected_gene': 'GC01M084160', 'score': 0.18}]
chr1	GH01I084364	84364680	84367590	1.21	[{'connected_gene': 'DNASE2B', 'score': 11.07}, {'connected_gene': 'UOX', 'score': 11.07}, {'connected_gene': 'RPF1', 'score': 9.59}, {'connected_gene': 'GC01M084160', 'score': 0.37}, {'connected_gene': 'GC01M084333', 'score': 0.2}, {'connected_gene': 'SAMD13', 'score': 0.16}]
chr1	GH01I084374	84374849	84378265	0.69	[{'connected_gene': 'DNASE2B', 'score': 11.66}, {'connected_gene': 'UOX', 'score': 11.66}, {'connected_gene': 'ENSG00000199959', 'score': 10.34}, {'connected_gene': 'RPF1', 'score': 9.8}, {'connected_gene': 'GC01M084160', 'score': 0.31}, {'connected_gene': 'GC01M084333', 'score': 0.22}, {'connected_gene': 'SAMD13', 'score': 0.15}]
chr1	GH01I084425	84425605	84425826	0.28	[{'connected_gene': 'DNASE2B', 'score': 12.07}, {'connected_gene': 'UOX', 'score': 12.07}, {'connected_gene': 'ENSG00000199959', 'score': 10.23}, {'connected_gene': 'SAMD13', 'score': 2.45}, {'connected_gene': 'PRKACB', 'score': 1.74}, {'connected_gene': 'GC01M084333', 'score': 0.44}]
chr1	GH01I084291	84291738	84291931	0.22	[{'connected_gene': 'DNASE2B', 'score': 12.2}, {'connected_gene': 'UOX', 'score': 10.18}, {'connected_gene': 'SAMD13', 'score': 2.32}, {'connected_gene': 'ENSG00000199959', 'score': 0.39}, {'connected_gene': 'ENSG00000249237', 'score': 0.23}, {'connected_gene': 'GC01M084160', 'score': 0.22}]
chr1	GH01I084293	84293552	84294925	0.2	[{'connected_gene': 'DNASE2B', 'score': 10.19}, {'connected_gene': 'UOX', 'score': 10.19}, {'connected_gene': 'SAMD13', 'score': 6.75}, {'connected_gene': 'ENSG00000199959', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.23}, {'connected_gene': 'ENSG00000249237', 'score': 0.23}]
chr1	GH01I084295	84295149	84296390	0.2	[{'connected_gene': 'DNASE2B', 'score': 10.19}, {'connected_gene': 'UOX', 'score': 10.19}, {'connected_gene': 'SAMD13', 'score': 7.2}, {'connected_gene': 'ENSG00000199959', 'score': 0.37}, {'connected_gene': 'ENSG00000249237', 'score': 0.25}, {'connected_gene': 'GC01M084160', 'score': 0.23}]
chr1	GH01I084353	84353878	84354027	0.58	[{'connected_gene': 'DNASE2B', 'score': 10.51}, {'connected_gene': 'UOX', 'score': 10.51}, {'connected_gene': 'GC01M084160', 'score': 0.44}, {'connected_gene': 'SAMD13', 'score': 0.18}, {'connected_gene': 'GC01M084333', 'score': 0.18}]
chr1	GH01I084338	84338701	84340217	0.46	[{'connected_gene': 'DNASE2B', 'score': 11.05}, {'connected_gene': 'UOX', 'score': 11.05}, {'connected_gene': 'ENSG00000199959', 'score': 10.94}, {'connected_gene': 'GC01M084160', 'score': 0.44}, {'connected_gene': 'ENSG00000249237', 'score': 0.44}, {'connected_gene': 'SAMD13', 'score': 0.21}, {'connected_gene': 'GC01M084333', 'score': 0.16}]
chr1	GH01I084370	84370538	84371438	0.56	[{'connected_gene': 'DNASE2B', 'score': 11.16}, {'connected_gene': 'UOX', 'score': 11.16}, {'connected_gene': 'ENSG00000199959', 'score': 10.44}, {'connected_gene': 'GC01M084160', 'score': 0.34}, {'connected_gene': 'GC01M084333', 'score': 0.21}, {'connected_gene': 'SAMD13', 'score': 0.15}]
chr1	GH01I084361	84361938	84362067	0.51	[{'connected_gene': 'DNASE2B', 'score': 9.72}, {'connected_gene': 'UOX', 'score': 9.72}, {'connected_gene': 'GC01M084160', 'score': 0.39}, {'connected_gene': 'GC01M084333', 'score': 0.19}, {'connected_gene': 'SAMD13', 'score': 0.17}]
chr1	GH01I084428	84428378	84428459	0.46	[{'connected_gene': 'DNASE2B', 'score': 11.31}, {'connected_gene': 'UOX', 'score': 11.29}, {'connected_gene': 'GC01M084333', 'score': 0.44}]
chr1	GH01I084427	84427598	84428210	0.54	[{'connected_gene': 'DNASE2B', 'score': 19.48}, {'connected_gene': 'UOX', 'score': 11.29}, {'connected_gene': 'GC01M084333', 'score': 0.44}]
chr1	GH01I085240	85240400	85240800	0.83	[{'connected_gene': 'DNASE2B', 'score': 4.63}, {'connected_gene': 'C1orf52', 'score': 0.37}, {'connected_gene': 'LOC105378821', 'score': 0.37}]
chr1	GH01I084281	84281155	84281396	0.48	[{'connected_gene': 'DNASE2B', 'score': 2.01}, {'connected_gene': 'ENSG00000199959', 'score': 0.77}, {'connected_gene': 'SAMD13', 'score': 0.44}, {'connected_gene': 'ENSG00000249237', 'score': 0.21}, {'connected_gene': 'GC01M084160', 'score': 0.2}]
chr1	GH01I084405	84405349	84408558	1.19	[{'connected_gene': 'DNASE2B', 'score': 560.28}, {'connected_gene': 'SAMD13', 'score': 10.46}, {'connected_gene': 'ENSG00000199959', 'score': 9.82}, {'connected_gene': 'GC01M084333', 'score': 0.31}]
chr1	GH01I084678	84678163	84678297	0.22	[{'connected_gene': 'DNASE2B', 'score': 13.19}, {'connected_gene': 'SSX2IP', 'score': 7.56}, {'connected_gene': 'SAMD13', 'score': 2.84}, {'connected_gene': 'LPAR3', 'score': 1.27}, {'connected_gene': 'ENSG00000232622', 'score': 0.26}]
chr1	GH01I084436	84436802	84438200	0.51	[{'connected_gene': 'DNASE2B', 'score': 15.69}, {'connected_gene': 'SPATA1', 'score': 11.4}, {'connected_gene': 'GNG5', 'score': 11.4}, {'connected_gene': 'RPF1', 'score': 10.28}, {'connected_gene': 'UOX', 'score': 10.2}, {'connected_gene': 'GC01M084333', 'score': 0.77}]
chr1	GH01I084363	84363201	84363400	0.51	[{'connected_gene': 'UOX', 'score': 10.27}, {'connected_gene': 'DNASE2B', 'score': 10.25}, {'connected_gene': 'ENSG00000199959', 'score': 10.01}, {'connected_gene': 'RPF1', 'score': 9.89}, {'connected_gene': 'GC01M084160', 'score': 0.39}, {'connected_gene': 'GC01M084333', 'score': 0.19}, {'connected_gene': 'SAMD13', 'score': 0.17}]
chr1	GH01I084775	84775531	84775605	0.46	[{'connected_gene': 'LPAR3', 'score': 12.31}, {'connected_gene': 'RPF1', 'score': 9.56}, {'connected_gene': 'DNASE2B', 'score': 4.08}, {'connected_gene': 'SAMD13', 'score': 1.85}, {'connected_gene': 'SSX2IP', 'score': 1.56}, {'connected_gene': 'LOC102724892', 'score': 0.34}, {'connected_gene': 'GC01P084753', 'score': 0.34}]
chr1	GH01I084758	84758601	84759896	0.69	[{'connected_gene': 'LPAR3', 'score': 12.2}, {'connected_gene': 'DNASE2B', 'score': 7.44}, {'connected_gene': 'SSX2IP', 'score': 5.76}, {'connected_gene': 'SAMD13', 'score': 2.2}, {'connected_gene': 'WDR63', 'score': 1.45}, {'connected_gene': 'GC01P084753', 'score': 0.44}, {'connected_gene': 'LOC102724892', 'score': 0.28}]
chr1	GH01I084297	84297684	84304467	2.21	[{'connected_gene': 'SAMD13', 'score': 556.24}, {'connected_gene': 'ENSG00000271576', 'score': 15.56}, {'connected_gene': 'BCL10', 'score': 10.38}, {'connected_gene': 'DNASE2B', 'score': 10.13}, {'connected_gene': 'UOX', 'score': 10.13}, {'connected_gene': 'RPF1', 'score': 9.76}, {'connected_gene': 'ENSG00000199959', 'score': 0.34}, {'connected_gene': 'ENSG00000249237', 'score': 0.26}, {'connected_gene': 'GC01M084160', 'score': 0.25}]
chr1	GH01I084409	84409401	84410200	0.38	[{'connected_gene': 'SAMD13', 'score': 10.46}, {'connected_gene': 'DNASE2B', 'score': 10.34}, {'connected_gene': 'ENSG00000199959', 'score': 9.81}, {'connected_gene': 'GC01M084333', 'score': 0.34}]
chr1	GH01I084382	84382372	84382808	0.64	[{'connected_gene': 'ENSG00000199959', 'score': 9.94}, {'connected_gene': 'RPF1', 'score': 9.11}, {'connected_gene': 'DNASE2B', 'score': 7.53}, {'connected_gene': 'SSX2IP', 'score': 5.32}, {'connected_gene': 'SAMD13', 'score': 1.8}, {'connected_gene': 'PRKACB', 'score': 1.35}, {'connected_gene': 'UOX', 'score': 0.37}, {'connected_gene': 'GC01M084160', 'score': 0.29}, {'connected_gene': 'GC01M084333', 'score': 0.23}]
chr1	GH01I084432	84432853	84436199	0.93	[{'connected_gene': 'GC01M084333', 'score': 550.77}, {'connected_gene': 'DNASE2B', 'score': 16.05}, {'connected_gene': 'GNG5', 'score': 11.39}, {'connected_gene': 'SPATA1', 'score': 11.39}, {'connected_gene': 'UOX', 'score': 11.11}, {'connected_gene': 'SAMD13', 'score': 10.78}, {'connected_gene': 'RPF1', 'score': 10.35}, {'connected_gene': 'ENSG00000199959', 'score': 10.29}]
chr1	GH01I084348	84348001	84348201	0.66	[{'connected_gene': 'GC01M084160', 'score': 550.77}, {'connected_gene': 'UOX', 'score': 10.51}, {'connected_gene': 'DNASE2B', 'score': 10.49}, {'connected_gene': 'ENSG00000249237', 'score': 0.77}, {'connected_gene': 'SAMD13', 'score': 0.19}, {'connected_gene': 'GC01M084333', 'score': 0.17}]
chr1	GH01I084349	84348378	84348527	0.63	[{'connected_gene': 'GC01M084160', 'score': 550.77}, {'connected_gene': 'UOX', 'score': 10.51}, {'connected_gene': 'DNASE2B', 'score': 10.49}, {'connected_gene': 'ENSG00000249237', 'score': 0.77}, {'connected_gene': 'SAMD13', 'score': 0.19}, {'connected_gene': 'GC01M084333', 'score': 0.17}]