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
ENST00000379882	[[32455299, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32526058, 32526322]]	[[32457119, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32526058, 32526164]]
ENST00000379868	[[32455702, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32493758, 32493940], [32500802, 32500937], [32526058, 32526206]]	[[32457119, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491380]]
ENST00000379883	[[32455702, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32500802, 32500937], [32526058, 32526322]]	[[32457119, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32500802, 32500937], [32526058, 32526164]]
ENST00000545044	[[32466379, 32466435], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32493758, 32493940], [32500802, 32500937], [32526058, 32526193]]	[[32466400, 32466435], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491380]]
ENST00000542096	[[32457007, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32498309, 32498564], [32500802, 32500937], [32502520, 32502734]]	[[32457119, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32498309, 32498337]]
NM_014314	[[32455299, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32500802, 32500937], [32526058, 32526322]]	[[32457119, 32457416], [32459368, 32459512], [32466287, 32466439], [32467759, 32467930], [32472972, 32473063], [32476980, 32477129], [32480216, 32480352], [32481337, 32481495], [32485172, 32485277], [32487468, 32487631], [32487942, 32488201], [32488731, 32488885], [32489341, 32489449], [32491298, 32491418], [32492388, 32492536], [32493758, 32493940], [32500802, 32500937], [32526058, 32526164]]

Promoter

Chrom	Start	End	Description
chr9	32526172	32526181	CAGE_peak_3_at_DDX58_5end
chr9	32526184	32526261	CAGE_peak_1_at_DDX58_5end
chr9	32526299	32526346	CAGE_peak_2_at_DDX58_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I033472	33472114	33475000	2.26	[{'connected_gene': 'NOL6', 'score': 662.79}, {'connected_gene': 'NFX1', 'score': 135.98}, {'connected_gene': 'TOPORS', 'score': 135.28}, {'connected_gene': 'ASS1P12', 'score': 111.06}, {'connected_gene': 'SMU1', 'score': 109.34}, {'connected_gene': 'TCEA1P4', 'score': 90.52}, {'connected_gene': 'ENSG00000228352', 'score': 67.23}, {'connected_gene': 'DFFBP1', 'score': 63.58}, {'connected_gene': 'ENSG00000223440', 'score': 55.62}, {'connected_gene': 'UBAP2', 'score': 47.15}, {'connected_gene': 'SUGT1P1', 'score': 25.61}, {'connected_gene': 'LAGE3P1', 'score': 20.95}, {'connected_gene': 'APTX', 'score': 18.57}, {'connected_gene': 'DDX58', 'score': 11.89}, {'connected_gene': 'ANKRD18B', 'score': 10.54}, {'connected_gene': 'ENSG00000260947', 'score': 10.38}, {'connected_gene': 'B4GALT1', 'score': 10.06}, {'connected_gene': 'CHMP5', 'score': 9.96}, {'connected_gene': 'AQP7', 'score': 5.31}, {'connected_gene': 'MIR6851', 'score': 0.44}]
chr9	GH09I033023	33023378	33027580	2.04	[{'connected_gene': 'APTX', 'score': 575.32}, {'connected_gene': 'DNAJA1', 'score': 550.77}, {'connected_gene': 'TOPORS', 'score': 24.78}, {'connected_gene': 'ENSG00000223440', 'score': 19.15}, {'connected_gene': 'ASS1P12', 'score': 18.3}, {'connected_gene': 'SMU1', 'score': 18.12}, {'connected_gene': 'DDX58', 'score': 15.79}, {'connected_gene': 'DFFBP1', 'score': 12.24}, {'connected_gene': 'NOL6', 'score': 11.6}, {'connected_gene': 'LAGE3P1', 'score': 10.71}, {'connected_gene': 'B4GALT1', 'score': 5.59}, {'connected_gene': 'PIR42660', 'score': 0.39}]
chr9	GH09I032422	32422156	32428674	1.28	[{'connected_gene': 'ACO1', 'score': 19.31}, {'connected_gene': 'NDUFB6', 'score': 11.34}, {'connected_gene': 'TMEM215', 'score': 9.76}, {'connected_gene': 'DDX58', 'score': 6.06}, {'connected_gene': 'LOC105376014', 'score': 0.31}]
chr9	GH09I032429	32429328	32433229	0.94	[{'connected_gene': 'ACO1', 'score': 19.88}, {'connected_gene': 'DDX58', 'score': 9.24}, {'connected_gene': 'TMEM215', 'score': 8.89}, {'connected_gene': 'LOC105376014', 'score': 0.34}]
chr9	GH09I032441	32441423	32442454	0.31	[{'connected_gene': 'ACO1', 'score': 11.59}, {'connected_gene': 'DDX58', 'score': 10.39}, {'connected_gene': 'LOC105376014', 'score': 0.39}]
chr9	GH09I032390	32390252	32392425	0.2	[{'connected_gene': 'ACO1', 'score': 11.69}, {'connected_gene': 'DDX58', 'score': 5.1}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.21}]
chr9	GH09I032393	32393509	32396936	1.09	[{'connected_gene': 'ACO1', 'score': 9.53}, {'connected_gene': 'DDX58', 'score': 6.84}, {'connected_gene': 'TOPORS', 'score': 4.77}, {'connected_gene': 'LOC105376014', 'score': 0.22}]
chr9	GH09I032388	32388496	32390060	0.2	[{'connected_gene': 'ACO1', 'score': 9.63}, {'connected_gene': 'DDX58', 'score': 5.08}, {'connected_gene': 'TOPORS', 'score': 4.69}, {'connected_gene': 'LOC105376014', 'score': 0.2}]
chr9	GH09I033286	33286628	33299625	2.53	[{'connected_gene': 'NFX1', 'score': 583.83}, {'connected_gene': 'PIR32325', 'score': 550.77}, {'connected_gene': 'B4GALT1', 'score': 19.34}, {'connected_gene': 'BAG1', 'score': 17.47}, {'connected_gene': 'ENSG00000228352', 'score': 16.36}, {'connected_gene': 'DFFBP1', 'score': 14.98}, {'connected_gene': 'ANXA2P2', 'score': 14.27}, {'connected_gene': 'SMU1', 'score': 13.53}, {'connected_gene': 'CHMP5', 'score': 12.03}, {'connected_gene': 'DDX58', 'score': 11.88}, {'connected_gene': 'AQP3', 'score': 11.17}, {'connected_gene': 'TOPORS', 'score': 10.76}, {'connected_gene': 'SPINK4', 'score': 9.93}, {'connected_gene': 'GC09M033166', 'score': 0.77}, {'connected_gene': 'GC09M033168', 'score': 0.77}, {'connected_gene': 'GC09M033167', 'score': 0.77}, {'connected_gene': 'LOC100862682', 'score': 0.77}]
chr9	GH09I032571	32571434	32574211	2.04	[{'connected_gene': 'NDUFB6', 'score': 560.54}, {'connected_gene': 'SMU1', 'score': 34.14}, {'connected_gene': 'DFFBP1', 'score': 23.49}, {'connected_gene': 'DDX58', 'score': 22.61}, {'connected_gene': 'TOPORS', 'score': 20.87}, {'connected_gene': 'B4GALT1', 'score': 10.78}, {'connected_gene': 'DNAJA1', 'score': 10.05}, {'connected_gene': 'APTX', 'score': 10.05}, {'connected_gene': 'ASS1P12', 'score': 9.83}]
chr9	GH09I032433	32433833	32436304	0.2	[{'connected_gene': 'DDX58', 'score': 15.18}, {'connected_gene': 'ACO1', 'score': 12.24}, {'connected_gene': 'TMEM215', 'score': 8.89}, {'connected_gene': 'LOC105376014', 'score': 0.37}]
chr9	GH09I032523	32523525	32527799	2.23	[{'connected_gene': 'DDX58', 'score': 572.09}, {'connected_gene': 'NDUFB6', 'score': 11.49}, {'connected_gene': 'ACO1', 'score': 10.28}, {'connected_gene': 'NFX1', 'score': 5.73}, {'connected_gene': 'LOC101060445', 'score': 0.2}]
chr9	GH09I032443	32443272	32443463	0.24	[{'connected_gene': 'DDX58', 'score': 4.91}, {'connected_gene': 'TOPORS', 'score': 1.71}, {'connected_gene': 'LOC105376014', 'score': 0.39}, {'connected_gene': 'ACO1', 'score': 0.22}]
chr9	GH09I032558	32558601	32559399	0.63	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032560	32560660	32561316	0.31	[{'connected_gene': 'DDX58', 'score': 12.93}, {'connected_gene': 'TOPORS', 'score': 0.44}, {'connected_gene': 'SMIM27', 'score': 0.44}, {'connected_gene': 'DFFBP1', 'score': 0.44}, {'connected_gene': 'NDUFB6', 'score': 0.39}]
chr9	GH09I032508	32508843	32508992	0.43	[{'connected_gene': 'DDX58', 'score': 0.37}, {'connected_gene': 'LOC101060445', 'score': 0.25}]
chr9	GH09I032461	32461736	32461766	0.27	[{'connected_gene': 'DDX58', 'score': 8.28}, {'connected_gene': 'LOC101060445', 'score': 0.77}]
chr9	GH09I032500	32500534	32503798	0.72	[{'connected_gene': 'DDX58', 'score': 12.88}, {'connected_gene': 'LOC101060445', 'score': 0.26}]
chr9	GH09I032489	32488103	32488292	0.56	[{'connected_gene': 'DDX58', 'score': 10.95}, {'connected_gene': 'LOC101060445', 'score': 0.31}]
chr9	GH09I032453	32453280	32457015	0.74	[{'connected_gene': 'LOC105376014', 'score': 550.77}, {'connected_gene': 'PIR32057', 'score': 550.77}, {'connected_gene': 'DDX58', 'score': 15.44}, {'connected_gene': 'ACO1', 'score': 7.45}]
chr9	GH09I032404	32404503	32405307	0.66	[{'connected_gene': 'TOPORS', 'score': 16.08}, {'connected_gene': 'DDX58', 'score': 12.0}, {'connected_gene': 'SMIM27', 'score': 11.99}, {'connected_gene': 'ACO1', 'score': 9.73}, {'connected_gene': 'LOC105376014', 'score': 0.23}]
chr9	GH09I032549	32549865	32554977	2.28	[{'connected_gene': 'TOPORS', 'score': 563.4}, {'connected_gene': 'SMIM27', 'score': 550.77}, {'connected_gene': 'NFX1', 'score': 16.62}, {'connected_gene': 'TCEA1P4', 'score': 13.35}, {'connected_gene': 'NDUFB6', 'score': 12.37}, {'connected_gene': 'SMU1', 'score': 11.29}, {'connected_gene': 'ASS1P12', 'score': 10.63}, {'connected_gene': 'NOL6', 'score': 10.24}, {'connected_gene': 'DDX58', 'score': 4.81}]
chr9	GH09I032488	32487283	32487432	0.68	[{'connected_gene': 'LOC101060445', 'score': 0.31}, {'connected_gene': 'DDX58', 'score': 0.28}]
chr9	GH09I032487	32487023	32487172	0.6	[{'connected_gene': 'LOC101060445', 'score': 0.31}, {'connected_gene': 'DDX58', 'score': 0.28}]