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
ENST00000262811	[[18208602, 18208641], [18218396, 18218428], [18232494, 18232583], [18232659, 18232732], [18233482, 18233561], [18234026, 18234184], [18234389, 18234465], [18234748, 18234958], [18235074, 18235176], [18235451, 18235584], [18239209, 18239268], [18239675, 18239761], [18241303, 18241512], [18242718, 18242857], [18245388, 18245521], [18245626, 18245792], [18246549, 18246651], [18248048, 18248171], [18249824, 18249934], [18252691, 18252825], [18254572, 18254817], [18255275, 18255503], [18255812, 18256039], [18256552, 18256675], [18257690, 18257827], [18258252, 18258434], [18260000, 18262502]]	[[18208602, 18208641], [18218396, 18218428], [18232494, 18232583], [18232659, 18232732], [18233482, 18233561], [18234026, 18234184], [18234389, 18234465], [18234748, 18234958], [18235074, 18235176], [18235451, 18235584], [18239209, 18239268], [18239675, 18239761], [18241303, 18241512], [18242718, 18242857], [18245388, 18245521], [18245626, 18245792], [18246549, 18246651], [18248048, 18248171], [18249824, 18249934], [18252691, 18252825], [18254572, 18254817], [18255275, 18255503], [18255812, 18256039], [18256552, 18256675], [18257690, 18257827], [18258252, 18258434], [18260000, 18260536]]
ENST00000608648	[[18220979, 18221176], [18221461, 18221551], [18232494, 18232583], [18232659, 18232732], [18233482, 18233561], [18234026, 18234184], [18234389, 18234465], [18234748, 18234958], [18235074, 18235176], [18235451, 18235584], [18239209, 18239268], [18239675, 18240169]]	None
ENST00000601226	[[18234208, 18234465], [18234748, 18234942]]	None
ENST00000609494	[[18248164, 18248171], [18249824, 18249934], [18252691, 18252825], [18254757, 18254817], [18255275, 18255318]]	[[18248164, 18248171], [18249824, 18249934], [18252691, 18252825], [18254757, 18254767]]
ENST00000609076	[[18255359, 18255503], [18255951, 18256039], [18256552, 18256675], [18257690, 18257784]]	None
NM_015016	[[18208602, 18208641], [18218396, 18218428], [18232494, 18232583], [18232659, 18232732], [18233482, 18233561], [18234026, 18234184], [18234389, 18234465], [18234748, 18234958], [18235074, 18235176], [18235451, 18235584], [18239209, 18239268], [18239675, 18239761], [18241303, 18241512], [18242718, 18242857], [18245388, 18245521], [18245626, 18245792], [18246549, 18246651], [18248048, 18248171], [18249824, 18249934], [18252691, 18252825], [18254572, 18254817], [18255275, 18255503], [18255812, 18256039], [18256552, 18256675], [18257690, 18257827], [18258252, 18258434], [18260000, 18262499]]	[[18208602, 18208641], [18218396, 18218428], [18232494, 18232583], [18232659, 18232732], [18233482, 18233561], [18234026, 18234184], [18234389, 18234465], [18234748, 18234958], [18235074, 18235176], [18235451, 18235584], [18239209, 18239268], [18239675, 18239761], [18241303, 18241512], [18242718, 18242857], [18245388, 18245521], [18245626, 18245792], [18246549, 18246651], [18248048, 18248171], [18249824, 18249934], [18252691, 18252825], [18254572, 18254817], [18255275, 18255503], [18255812, 18256039], [18256552, 18256675], [18257690, 18257827], [18258252, 18258434], [18260000, 18260536]]

Promoter

Chrom	Start	End	Description
chr19	18208574	18208601	CAGE_peak_1_at_MAST3_5end
chr19	18208603	18208614	CAGE_peak_2_at_MAST3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018057	18057567	18059100	1.36	[{'connected_gene': 'IQCN', 'score': 6.84}, {'connected_gene': 'MAST3', 'score': 5.21}, {'connected_gene': 'RPS18P13', 'score': 0.44}, {'connected_gene': 'IL12RB1', 'score': 0.26}]
chr19	GH19I018150	18150673	18154911	2.28	[{'connected_gene': 'PIK3R2', 'score': 550.77}, {'connected_gene': 'ENSG00000268173', 'score': 550.77}, {'connected_gene': 'ENSG00000269145', 'score': 550.77}, {'connected_gene': 'PDE4C', 'score': 21.71}, {'connected_gene': 'ENSG00000268030', 'score': 21.19}, {'connected_gene': 'UPF1', 'score': 19.99}, {'connected_gene': 'ENSG00000268938', 'score': 17.68}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.1}, {'connected_gene': 'GTPBP3', 'score': 12.55}, {'connected_gene': 'MPV17L2', 'score': 11.83}, {'connected_gene': 'PLVAP', 'score': 11.57}, {'connected_gene': 'IQCN', 'score': 11.38}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ELL', 'score': 10.29}, {'connected_gene': 'IFI30', 'score': 5.5}, {'connected_gene': 'MAST3', 'score': 0.22}]
chr19	GH19I018114	18114361	18116150	0.49	[{'connected_gene': 'PDE4C', 'score': 8.71}, {'connected_gene': 'IQCN', 'score': 5.12}, {'connected_gene': 'PIR61285', 'score': 0.77}, {'connected_gene': 'GC19P019964', 'score': 0.39}, {'connected_gene': 'PIR41371', 'score': 0.39}, {'connected_gene': 'MAST3', 'score': 0.37}]
chr19	GH19I018117	18117201	18121269	1.58	[{'connected_gene': 'PDE4C', 'score': 9.46}, {'connected_gene': 'IL12RB1', 'score': 5.86}, {'connected_gene': 'IQCN', 'score': 5.84}, {'connected_gene': 'FCHO1', 'score': 1.82}, {'connected_gene': 'JAK3', 'score': 1.22}, {'connected_gene': 'PIR61285', 'score': 0.44}, {'connected_gene': 'GC19P019964', 'score': 0.44}, {'connected_gene': 'PIR41371', 'score': 0.44}, {'connected_gene': 'MAST3', 'score': 0.34}]
chr19	GH19I018103	18103505	18105200	1.35	[{'connected_gene': 'PDE4C', 'score': 8.36}, {'connected_gene': 'IL12RB1', 'score': 7.0}, {'connected_gene': 'PIR61285', 'score': 0.44}, {'connected_gene': 'MAST3', 'score': 0.44}]
chr19	GH19I018107	18107251	18111474	1.66	[{'connected_gene': 'PDE4C', 'score': 6.79}, {'connected_gene': 'MAST3', 'score': 6.13}, {'connected_gene': 'IQCN', 'score': 5.04}, {'connected_gene': 'PIR61285', 'score': 0.77}, {'connected_gene': 'IL12RB1', 'score': 0.39}]
chr19	GH19I018123	18123328	18124905	0.43	[{'connected_gene': 'PDE4C', 'score': 9.06}, {'connected_gene': 'IFI30', 'score': 5.44}, {'connected_gene': 'IL12RB1', 'score': 5.03}, {'connected_gene': 'IQCN', 'score': 4.74}, {'connected_gene': 'GC19P019964', 'score': 0.77}, {'connected_gene': 'PIR41371', 'score': 0.77}, {'connected_gene': 'PIR61285', 'score': 0.39}, {'connected_gene': 'MAST3', 'score': 0.31}]
chr19	GH19I018019	18019775	18025420	1.79	[{'connected_gene': 'LOC440514', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 19.41}, {'connected_gene': 'IFI30', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'COMP', 'score': 6.12}, {'connected_gene': 'UBA52', 'score': 4.76}, {'connected_gene': 'LRRC25', 'score': 4.62}, {'connected_gene': 'JUND', 'score': 2.54}, {'connected_gene': 'FCHO1', 'score': 2.28}, {'connected_gene': 'MAP1S', 'score': 2.22}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'PDE4C', 'score': 1.46}, {'connected_gene': 'IL12RB1', 'score': 1.45}, {'connected_gene': 'MAST3', 'score': 1.38}, {'connected_gene': 'KCNN1', 'score': 1.26}, {'connected_gene': 'FAM129C', 'score': 1.21}, {'connected_gene': 'PGPEP1', 'score': 1.2}, {'connected_gene': 'LOC646666', 'score': 0.37}]
chr19	GH19I017845	17845797	17851953	2.18	[{'connected_gene': 'JAK3', 'score': 563.67}, {'connected_gene': 'FCHO1', 'score': 13.96}, {'connected_gene': 'B3GNT3', 'score': 12.85}, {'connected_gene': 'INSL3', 'score': 12.75}, {'connected_gene': 'UNC13A', 'score': 11.27}, {'connected_gene': 'RPL18A', 'score': 9.78}, {'connected_gene': 'MAST3', 'score': 5.47}, {'connected_gene': 'FAM129C', 'score': 4.11}, {'connected_gene': 'IL12RB1', 'score': 3.4}, {'connected_gene': 'ARRDC2', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.47}, {'connected_gene': 'PIR41673', 'score': 0.77}]
chr19	GH19I018086	18086343	18092287	2.5	[{'connected_gene': 'IL12RB1', 'score': 571.7}, {'connected_gene': 'ENSG00000268030', 'score': 70.21}, {'connected_gene': 'UPF1', 'score': 68.58}, {'connected_gene': 'IQCN', 'score': 52.93}, {'connected_gene': 'GTPBP3', 'score': 47.91}, {'connected_gene': 'SUGP2', 'score': 45.53}, {'connected_gene': 'ENSG00000268938', 'score': 36.98}, {'connected_gene': 'ENSG00000269191', 'score': 24.3}, {'connected_gene': 'LOC100507551', 'score': 20.78}, {'connected_gene': 'ELL', 'score': 20.34}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'FKBP8', 'score': 13.44}, {'connected_gene': 'SLC27A1', 'score': 12.01}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ENSG00000269815', 'score': 10.92}, {'connected_gene': 'FCHO1', 'score': 10.23}, {'connected_gene': 'LRRC25', 'score': 8.89}, {'connected_gene': 'UBA52', 'score': 7.84}, {'connected_gene': 'MAST3', 'score': 6.52}, {'connected_gene': 'ARRDC2', 'score': 6.42}, {'connected_gene': 'JAK3', 'score': 6.19}, {'connected_gene': 'IFI30', 'score': 2.68}, {'connected_gene': 'RPS18P13', 'score': 0.26}]
chr19	GH19I018097	18097330	18100204	2.15	[{'connected_gene': 'IL12RB1', 'score': 557.81}, {'connected_gene': 'MAST3', 'score': 550.77}, {'connected_gene': 'PLVAP', 'score': 11.56}, {'connected_gene': 'PDE4C', 'score': 7.07}]
chr19	GH19I018080	18080307	18081270	0.31	[{'connected_gene': 'IL12RB1', 'score': 18.37}, {'connected_gene': 'MAST3', 'score': 0.37}, {'connected_gene': 'RPS18P13', 'score': 0.29}]
chr19	GH19I018072	18072840	18074637	0.49	[{'connected_gene': 'IL12RB1', 'score': 18.21}, {'connected_gene': 'MAST3', 'score': 0.34}, {'connected_gene': 'RPS18P13', 'score': 0.31}]
chr19	GH19I018082	18082284	18082972	0.31	[{'connected_gene': 'IL12RB1', 'score': 16.21}, {'connected_gene': 'MAST3', 'score': 5.17}, {'connected_gene': 'RPS18P13', 'score': 0.29}]
chr19	GH19I018100	18100571	18101270	0.89	[{'connected_gene': 'IL12RB1', 'score': 550.77}, {'connected_gene': 'MAST3', 'score': 0.77}, {'connected_gene': 'PIR61285', 'score': 0.39}]
chr19	GH19I018063	18063015	18064371	0.86	[{'connected_gene': 'IL12RB1', 'score': 8.11}, {'connected_gene': 'RPS18P13', 'score': 0.37}, {'connected_gene': 'MAST3', 'score': 0.29}]
chr19	GH19I018061	18061483	18062938	0.54	[{'connected_gene': 'IL12RB1', 'score': 7.87}, {'connected_gene': 'ENSG00000269481', 'score': 6.17}, {'connected_gene': 'RPS18P13', 'score': 0.39}, {'connected_gene': 'MAST3', 'score': 0.28}]
chr19	GH19I018071	18071286	18072791	0.38	[{'connected_gene': 'IL12RB1', 'score': 18.14}, {'connected_gene': 'RPS18P13', 'score': 0.34}, {'connected_gene': 'MAST3', 'score': 0.31}]
chr19	GH19I018068	18068314	18071220	0.43	[{'connected_gene': 'IL12RB1', 'score': 19.3}, {'connected_gene': 'RPS18P13', 'score': 0.34}, {'connected_gene': 'MAST3', 'score': 0.31}]
chr19	GH19I018054	18054579	18057255	0.62	[{'connected_gene': 'ARRDC2', 'score': 6.41}, {'connected_gene': 'IQCN', 'score': 5.56}, {'connected_gene': 'RPS18P13', 'score': 0.44}, {'connected_gene': 'MAST3', 'score': 0.26}]
chr19	GH19I017778	17778212	17779816	1.89	[{'connected_gene': 'FCHO1', 'score': 17.87}, {'connected_gene': 'ENSG00000268030', 'score': 12.6}, {'connected_gene': 'COLGALT1', 'score': 12.4}, {'connected_gene': 'ENSG00000268743', 'score': 10.39}, {'connected_gene': 'FAM129C', 'score': 5.84}, {'connected_gene': 'JAK3', 'score': 2.57}, {'connected_gene': 'MAST3', 'score': 1.4}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'B3GNT3', 'score': 0.37}]
chr19	GH19I018084	18084462	18085343	0.52	[{'connected_gene': 'FCHO1', 'score': 10.68}, {'connected_gene': 'MAST3', 'score': 0.39}, {'connected_gene': 'IL12RB1', 'score': 0.39}, {'connected_gene': 'RPS18P13', 'score': 0.28}]
chr19	GH19I018093	18093400	18094000	1.17	[{'connected_gene': 'MAST3', 'score': 0.77}, {'connected_gene': 'IL12RB1', 'score': 0.44}, {'connected_gene': 'RPS18P13', 'score': 0.25}]
chr19	GH19I018095	18095162	18096373	0.46	[{'connected_gene': 'MAST3', 'score': 556.36}, {'connected_gene': 'IL12RB1', 'score': 10.98}, {'connected_gene': 'RPS18P13', 'score': 0.25}]
chr19	GH19I018289	18289167	18295305	1.86	[{'connected_gene': 'NR2C2AP', 'score': 74.06}, {'connected_gene': 'ENSG00000268030', 'score': 70.16}, {'connected_gene': 'IQCN', 'score': 52.86}, {'connected_gene': 'SUGP2', 'score': 50.82}, {'connected_gene': 'UPF1', 'score': 46.14}, {'connected_gene': 'COLGALT1', 'score': 38.67}, {'connected_gene': 'ENSG00000268938', 'score': 36.46}, {'connected_gene': 'MVB12A', 'score': 29.85}, {'connected_gene': 'MEF2B', 'score': 28.66}, {'connected_gene': 'ENSG00000269191', 'score': 24.27}, {'connected_gene': 'GTPBP3', 'score': 22.9}, {'connected_gene': 'ELL', 'score': 21.85}, {'connected_gene': 'LOC100507551', 'score': 19.66}, {'connected_gene': 'RPL18A', 'score': 19.4}, {'connected_gene': 'JUND', 'score': 12.78}, {'connected_gene': 'IFI30', 'score': 12.73}, {'connected_gene': 'UBA52', 'score': 11.73}, {'connected_gene': 'TMEM161A', 'score': 11.06}, {'connected_gene': 'ENSG00000269815', 'score': 10.91}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'IL12RB1', 'score': 7.16}, {'connected_gene': 'ARRDC2', 'score': 5.99}, {'connected_gene': 'JAK3', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 4.8}, {'connected_gene': 'LRRC25', 'score': 4.05}, {'connected_gene': 'KCNN1', 'score': 2.58}, {'connected_gene': 'KLHL26', 'score': 2.35}, {'connected_gene': 'PGPEP1', 'score': 2.12}, {'connected_gene': 'REX1BD', 'score': 1.39}, {'connected_gene': 'SSBP4', 'score': 1.31}, {'connected_gene': 'CRTC1', 'score': 1.28}, {'connected_gene': 'MAST3', 'score': 1.21}, {'connected_gene': 'GC19P020225', 'score': 0.77}, {'connected_gene': 'RPL39P38', 'score': 0.44}]
chr19	GH19I018048	18048386	18050125	1.31	[{'connected_gene': 'RPS18P13', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 11.56}, {'connected_gene': 'IFI30', 'score': 1.73}, {'connected_gene': 'MAST3', 'score': 0.25}]
chr19	GH19I018064	18064871	18065020	0.78	[{'connected_gene': 'RPS18P13', 'score': 0.37}, {'connected_gene': 'MAST3', 'score': 0.29}, {'connected_gene': 'IL12RB1', 'score': 0.29}]
chr19	GH19I018052	18052001	18052200	0.63	[{'connected_gene': 'RPS18P13', 'score': 0.77}, {'connected_gene': 'MAST3', 'score': 0.25}]
chr19	GH19I018053	18053531	18053680	0.58	[{'connected_gene': 'RPS18P13', 'score': 0.77}, {'connected_gene': 'MAST3', 'score': 0.26}]
chr19	GH19I018051	18051491	18051881	0.86	[{'connected_gene': 'RPS18P13', 'score': 0.77}, {'connected_gene': 'MAST3', 'score': 0.25}]
chr19	GH19I018127	18127674	18129123	0.74	[{'connected_gene': 'GC19P019964', 'score': 550.77}, {'connected_gene': 'PIR41371', 'score': 550.77}, {'connected_gene': 'PDE4C', 'score': 5.17}, {'connected_gene': 'IQCN', 'score': 5.09}, {'connected_gene': 'PIR61285', 'score': 0.37}, {'connected_gene': 'MAST3', 'score': 0.29}]
chr19	GH19I018112	18112782	18113740	1.06	[{'connected_gene': 'PIR61285', 'score': 550.77}, {'connected_gene': 'MAST3', 'score': 0.37}, {'connected_gene': 'GC19P019964', 'score': 0.37}, {'connected_gene': 'PIR41371', 'score': 0.37}]
chr19	GH19I018135	18135240	18137303	0.88	[{'connected_gene': 'GC19P019964', 'score': 0.44}, {'connected_gene': 'PIR41371', 'score': 0.44}, {'connected_gene': 'GC19P020266', 'score': 0.39}, {'connected_gene': 'MAST3', 'score': 0.28}]
chr19	GH19I018122	18122451	18122461	0.4	[{'connected_gene': 'GC19P019964', 'score': 0.44}, {'connected_gene': 'PIR41371', 'score': 0.44}, {'connected_gene': 'PIR61285', 'score': 0.39}, {'connected_gene': 'MAST3', 'score': 0.34}]