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
ENST00000473684	[[119148346, 119151061], [119153608, 119153729], [119154601, 119154782], [119155637, 119155663]]	[[119154751, 119154782], [119155637, 119155663]]
ENST00000438581	[[119148346, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119170055, 119170164], [119171293, 119171377], [119176864, 119177087], [119180808, 119180995], [119182182, 119182444]]	[[119170143, 119170164], [119171293, 119171377], [119176864, 119177087], [119180808, 119180921]]
ENST00000319172	[[119148346, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180995], [119182182, 119182529]]	[[119150827, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180921]]
ENST00000468545	[[119155435, 119155825], [119156601, 119156786]]	None
ENST00000491685	[[119155790, 119155825], [119156601, 119156950], [119180808, 119180995], [119182182, 119182463]]	[[119155790, 119155825], [119156601, 119156950], [119180808, 119180921]]
ENST00000486159	[[119156780, 119156950], [119176864, 119177087], [119180808, 119180995], [119182182, 119182428]]	None
ENST00000486235	[[119165488, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180855]]	None
ENST00000468676	[[119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180951], [119182182, 119182512]]	[[119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180921]]
ENST00000490099	[[119165865, 119166019], [119171293, 119171377], [119176864, 119177031], [119180808, 119180995], [119182182, 119182458]]	[[119177003, 119177031], [119180808, 119180921]]
ENST00000497993	[[119171293, 119171377], [119176864, 119177087], [119180808, 119180995], [119187581, 119187677]]	[[119171293, 119171377], [119176864, 119177087], [119180808, 119180921]]
ENST00000482162	[[119171355, 119171377], [119176864, 119176930], [119180808, 119180995], [119182182, 119182461]]	None
ENST00000461654	[[119176864, 119177087], [119180808, 119180995], [119182182, 119182319], [119182452, 119182493]]	[[119176864, 119177087], [119180808, 119180921]]
NR_073506	[[119147806, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119170055, 119170164], [119171293, 119171377], [119176864, 119177087], [119180808, 119180995], [119182182, 119182529]]	None
NM_018266	[[119147806, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180995], [119182182, 119182529]]	[[119150827, 119151061], [119153608, 119153729], [119155637, 119155825], [119156601, 119156950], [119165864, 119166019], [119171293, 119171377], [119176864, 119177087], [119180808, 119180921]]

Promoter

Chrom	Start	End	Description
chr3	119182394	119182405	CAGE_peak_9_at_TMEM39A_5end
chr3	119182453	119182498	CAGE_peak_1_at_TMEM39A_5end
chr3	119182506	119182517	CAGE_peak_3_at_TMEM39A_5end
chr3	119182523	119182534	CAGE_peak_2_at_TMEM39A_5end
chr3	119188104	119188112	CAGE_peak_15_at_TMEM39A_5end
chr3	119188119	119188129	CAGE_peak_18_at_TMEM39A_5end
chr3	119188142	119188154	CAGE_peak_6_at_TMEM39A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119570	119570001	119571999	1.3	[{'connected_gene': 'CD80', 'score': 19.97}, {'connected_gene': 'PLA1A', 'score': 12.4}, {'connected_gene': 'ARHGAP31', 'score': 12.16}, {'connected_gene': 'ADPRH', 'score': 11.85}, {'connected_gene': 'POPDC2', 'score': 10.64}, {'connected_gene': 'POGLUT1', 'score': 9.71}, {'connected_gene': 'TMEM39A', 'score': 9.71}, {'connected_gene': 'COX17', 'score': 2.25}]
chr3	GH03I119557	119557641	119563425	2.14	[{'connected_gene': 'CD80', 'score': 575.92}, {'connected_gene': 'ADPRH', 'score': 20.7}, {'connected_gene': 'ARHGAP31', 'score': 6.57}, {'connected_gene': 'TMEM39A', 'score': 1.33}]
chr3	GH03I119518	119518509	119518999	0.25	[{'connected_gene': 'CD80', 'score': 28.27}, {'connected_gene': 'ADPRH', 'score': 12.73}, {'connected_gene': 'POGLUT1', 'score': 8.28}, {'connected_gene': 'COX17', 'score': 1.61}, {'connected_gene': 'TMEM39A', 'score': 1.54}, {'connected_gene': 'ARHGAP31', 'score': 1.54}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'PIR33513', 'score': 0.37}, {'connected_gene': 'GC03P119501', 'score': 0.37}, {'connected_gene': 'TIMMDC1', 'score': 0.34}]
chr3	GH03I119468	119468013	119470237	2.01	[{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3	GH03I119462	119462057	119464818	2.08	[{'connected_gene': 'TMEM39A', 'score': 550.44}, {'connected_gene': 'POGLUT1', 'score': 30.64}, {'connected_gene': 'TIMMDC1', 'score': 11.56}, {'connected_gene': 'GC03P119428', 'score': 0.29}]
chr3	GH03I119595	119595328	119598332	1.73	[{'connected_gene': 'PLA1A', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 15.37}, {'connected_gene': 'ADPRH', 'score': 13.01}, {'connected_gene': 'COX17', 'score': 7.58}, {'connected_gene': 'ARHGAP31', 'score': 4.79}, {'connected_gene': 'TMEM39A', 'score': 1.65}, {'connected_gene': 'POGLUT1', 'score': 1.62}, {'connected_gene': 'ENSG00000272967', 'score': 0.37}]
chr3	GH03I119497	119497379	119501067	2.05	[{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3	GH03I120090	120090372	120097503	2.29	[{'connected_gene': 'GSK3B', 'score': 566.45}, {'connected_gene': 'ENSG00000242622', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 12.93}, {'connected_gene': 'TMEM39A', 'score': 12.32}, {'connected_gene': 'GC03M119752', 'score': 0.39}]
chr3	GH03I118995	118995819	118998286	0.46	[{'connected_gene': 'IGSF11', 'score': 5.23}, {'connected_gene': 'TMEM39A', 'score': 5.08}, {'connected_gene': 'GC03M119012', 'score': 0.34}, {'connected_gene': 'IGSF11-AS1', 'score': 0.23}]
chr3	GH03I120347	120347723	120351131	2.04	[{'connected_gene': 'LOC100130701', 'score': 575.85}, {'connected_gene': 'LRRC58', 'score': 550.77}, {'connected_gene': 'GPR156', 'score': 18.99}, {'connected_gene': 'TMEM39A', 'score': 11.91}, {'connected_gene': 'MAATS1', 'score': 10.11}, {'connected_gene': 'LOC442087', 'score': 5.63}]