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
ENST00000475662	[[26987156, 26987294], [27014998, 27015108], [27016012, 27016194], [27016679, 27017457]]	None
ENST00000335756	[[27008864, 27009164], [27014998, 27015108], [27015623, 27015701], [27016012, 27016194], [27016679, 27017461]]	[[27009064, 27009164], [27014998, 27015108], [27015623, 27015701], [27016012, 27016147]]
ENST00000472719	[[27008894, 27008948], [27014998, 27015108], [27015623, 27015701], [27016012, 27016194], [27016679, 27016944]]	None
ENST00000233505	[[27008935, 27009164], [27014998, 27015108], [27016012, 27016194], [27016679, 27017457]]	[[27009064, 27009164], [27014998, 27015108], [27016012, 27016147]]
ENST00000419525	[[27008969, 27009164], [27014998, 27015108], [27015369, 27015701], [27016012, 27016194], [27016679, 27016810]]	[[27009064, 27009164], [27014998, 27015108], [27015369, 27015420]]
ENST00000460030	[[27009010, 27009164], [27014998, 27015108], [27015623, 27015701], [27016012, 27016194], [27016679, 27016761], [27023796, 27023935]]	None
NM_001809	[[27008881, 27009164], [27014998, 27015108], [27015623, 27015701], [27016012, 27016194], [27016679, 27017457]]	[[27009064, 27009164], [27014998, 27015108], [27015623, 27015701], [27016012, 27016147]]
NM_001042426	[[27008882, 27009164], [27014998, 27015108], [27016012, 27016194], [27016679, 27017457]]	[[27009064, 27009164], [27014998, 27015108], [27016012, 27016147]]

Promoter

Chrom	Start	End	Description
chr2	26987111	26987210	CAGE_peak_1_at_C2orf18_5end,CAGE_peak_1_at_CENPA_5end
chr2	27008888	27008968	CAGE_peak_2_at_CENPA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I026766	26766601	26773416	1.73	[{'connected_gene': 'SNX17', 'score': 19.31}, {'connected_gene': 'GTF3C2', 'score': 17.0}, {'connected_gene': 'NRBP1', 'score': 16.4}, {'connected_gene': 'TMEM214', 'score': 12.69}, {'connected_gene': 'ASXL2', 'score': 12.43}, {'connected_gene': 'CAD', 'score': 12.36}, {'connected_gene': 'LOC105374363', 'score': 12.12}, {'connected_gene': 'GPN1', 'score': 12.0}, {'connected_gene': 'KHK', 'score': 11.87}, {'connected_gene': 'DPYSL5', 'score': 10.22}, {'connected_gene': 'ATRAID', 'score': 9.73}, {'connected_gene': 'EIF2B4', 'score': 9.68}, {'connected_gene': 'MAPRE3', 'score': 9.31}, {'connected_gene': 'ADGRF3', 'score': 2.01}, {'connected_gene': 'CENPA', 'score': 0.44}, {'connected_gene': 'SLC35F6', 'score': 0.44}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.22}]
chr2	GH02I026438	26438073	26439835	0.46	[{'connected_gene': 'DRC1', 'score': 11.03}, {'connected_gene': 'HADHA', 'score': 9.99}, {'connected_gene': 'HADHB', 'score': 9.99}, {'connected_gene': 'CENPA', 'score': 4.8}, {'connected_gene': 'OTOF', 'score': 0.13}]
chr2	GH02I027122	27122818	27124512	1.91	[{'connected_gene': 'ABHD1', 'score': 550.77}, {'connected_gene': 'TCF23', 'score': 11.5}, {'connected_gene': 'ATRAID', 'score': 10.8}, {'connected_gene': 'SLC5A6', 'score': 10.8}, {'connected_gene': 'KHK', 'score': 10.58}, {'connected_gene': 'EMILIN1', 'score': 10.55}, {'connected_gene': 'CAD', 'score': 10.47}, {'connected_gene': 'CENPA', 'score': 7.32}, {'connected_gene': 'SLC35F6', 'score': 5.31}, {'connected_gene': 'CGREF1', 'score': 0.77}]
chr2	GH02I027264	27263207	27263266	0.99	[{'connected_gene': 'SLC30A3', 'score': 550.39}, {'connected_gene': 'UCN', 'score': 11.77}, {'connected_gene': 'MPV17', 'score': 11.73}, {'connected_gene': 'CAD', 'score': 11.05}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.6}, {'connected_gene': 'TCF23', 'score': 10.57}, {'connected_gene': 'GTF3C2', 'score': 10.56}, {'connected_gene': 'PRR30', 'score': 10.56}, {'connected_gene': 'PREB', 'score': 10.31}, {'connected_gene': 'CENPA', 'score': 5.39}, {'connected_gene': 'DNAJC5G', 'score': 0.39}]
chr2	GH02I026701	26701903	26702992	0.69	[{'connected_gene': 'CAD', 'score': 15.86}, {'connected_gene': 'LOC105374363', 'score': 14.39}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'CENPA', 'score': 4.48}, {'connected_gene': 'GC02P026705', 'score': 0.77}, {'connected_gene': 'KCNK3', 'score': 0.44}]
chr2	GH02I026410	26410650	26413183	1.46	[{'connected_gene': 'ATRAID', 'score': 11.99}, {'connected_gene': 'HADHA', 'score': 10.37}, {'connected_gene': 'OST4', 'score': 10.03}, {'connected_gene': 'RAB10', 'score': 8.67}, {'connected_gene': 'SELENOI', 'score': 7.09}, {'connected_gene': 'DRC1', 'score': 6.11}, {'connected_gene': 'ADGRF3', 'score': 4.43}, {'connected_gene': 'CENPA', 'score': 4.38}, {'connected_gene': 'OTOF', 'score': 0.11}]
chr2	GH02I026804	26804921	26806408	0.46	[{'connected_gene': 'KHK', 'score': 12.48}, {'connected_gene': 'DPYSL5', 'score': 10.99}, {'connected_gene': 'CENPA', 'score': 8.75}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.34}]
chr2	GH02I026932	26932822	26934864	0.46	[{'connected_gene': 'KHK', 'score': 24.76}, {'connected_gene': 'CENPA', 'score': 11.56}, {'connected_gene': 'PIR42524', 'score': 0.31}, {'connected_gene': 'MAPRE3', 'score': 0.28}, {'connected_gene': 'DPYSL5', 'score': 0.17}]
chr2	GH02I026736	26736883	26737492	0.56	[{'connected_gene': 'KCNK3', 'score': 12.1}, {'connected_gene': 'DPYSL5', 'score': 10.04}, {'connected_gene': 'MAPRE3', 'score': 9.14}, {'connected_gene': 'CENPA', 'score': 7.79}, {'connected_gene': 'SLC35F6', 'score': 0.31}, {'connected_gene': 'GC02P026705', 'score': 0.29}]
chr2	GH02I026729	26729759	26734070	0.63	[{'connected_gene': 'KCNK3', 'score': 12.58}, {'connected_gene': 'CENPA', 'score': 10.9}, {'connected_gene': 'DPYSL5', 'score': 10.03}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 7.09}, {'connected_gene': 'GC02P026705', 'score': 0.31}, {'connected_gene': 'SLC35F6', 'score': 0.29}]
chr2	GH02I026178	26178557	26180386	0.76	[{'connected_gene': 'HADHA', 'score': 20.96}, {'connected_gene': 'HADHB', 'score': 10.55}, {'connected_gene': 'GAREM2', 'score': 9.99}, {'connected_gene': 'CENPA', 'score': 5.12}, {'connected_gene': 'GC02P026194', 'score': 0.39}, {'connected_gene': 'GC02P026059', 'score': 0.13}]
chr2	GH02I026968	26968127	26969843	0.6	[{'connected_gene': 'MAPRE3', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 11.18}, {'connected_gene': 'CENPA', 'score': 4.45}, {'connected_gene': 'LOC105374337', 'score': 0.26}, {'connected_gene': 'PIR42524', 'score': 0.21}]
chr2	GH02I027069	27069034	27083953	2.82	[{'connected_gene': 'EMILIN1', 'score': 564.51}, {'connected_gene': 'OST4', 'score': 560.77}, {'connected_gene': 'CAD', 'score': 53.47}, {'connected_gene': 'GTF3C2', 'score': 53.02}, {'connected_gene': 'SNX17', 'score': 47.2}, {'connected_gene': 'NRBP1', 'score': 41.6}, {'connected_gene': 'LOC105374363', 'score': 38.13}, {'connected_gene': 'GPN1', 'score': 36.6}, {'connected_gene': 'KHK', 'score': 34.37}, {'connected_gene': 'TMEM214', 'score': 30.86}, {'connected_gene': 'ATRAID', 'score': 23.51}, {'connected_gene': 'EIF2B4', 'score': 22.95}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.63}, {'connected_gene': 'ZNF513', 'score': 12.84}, {'connected_gene': 'PPM1G', 'score': 11.86}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'CGREF1', 'score': 3.91}, {'connected_gene': 'CENPA', 'score': 1.74}, {'connected_gene': 'SLC5A6', 'score': 1.23}, {'connected_gene': 'DPYSL5', 'score': 1.21}, {'connected_gene': 'AGBL5', 'score': 0.29}]
chr2	GH02I026717	26717182	26727327	1.91	[{'connected_gene': 'CENPA', 'score': 20.77}, {'connected_gene': 'EIF2B4', 'score': 20.39}, {'connected_gene': 'GPN1', 'score': 14.33}, {'connected_gene': 'GTF3C2', 'score': 14.08}, {'connected_gene': 'CAD', 'score': 13.17}, {'connected_gene': 'KCNK3', 'score': 12.61}, {'connected_gene': 'SLC35F6', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.2}, {'connected_gene': 'NRBP1', 'score': 10.94}, {'connected_gene': 'C2orf70', 'score': 10.85}, {'connected_gene': 'OTOF', 'score': 10.84}, {'connected_gene': 'ASXL2', 'score': 10.74}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 6.89}, {'connected_gene': 'DPYSL5', 'score': 5.26}, {'connected_gene': 'HADHB', 'score': 4.66}, {'connected_gene': 'ADGRF3', 'score': 2.86}, {'connected_gene': 'HADHA', 'score': 2.5}, {'connected_gene': 'ATRAID', 'score': 1.31}, {'connected_gene': 'GC02P026705', 'score': 0.37}]
chr2	GH02I026784	26784953	26787262	2.07	[{'connected_gene': 'CENPA', 'score': 564.95}, {'connected_gene': 'ASXL2', 'score': 39.78}, {'connected_gene': 'EIF2B4', 'score': 35.56}, {'connected_gene': 'NRBP1', 'score': 35.38}, {'connected_gene': 'GPN1', 'score': 35.36}, {'connected_gene': 'GTF3C2', 'score': 33.92}, {'connected_gene': 'PPM1G', 'score': 32.7}, {'connected_gene': 'ATRAID', 'score': 28.71}, {'connected_gene': 'CAD', 'score': 20.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 16.15}, {'connected_gene': 'SNX17', 'score': 13.87}, {'connected_gene': 'AGBL5', 'score': 13.32}, {'connected_gene': 'TMEM214', 'score': 12.69}, {'connected_gene': 'LOC105374363', 'score': 12.12}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'OST4', 'score': 10.06}, {'connected_gene': 'MAPRE3', 'score': 9.92}, {'connected_gene': 'SLC35F6', 'score': 4.69}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.26}]
chr2	GH02I026763	26763370	26766267	2.22	[{'connected_gene': 'CENPA', 'score': 550.77}, {'connected_gene': 'SLC35F6', 'score': 550.77}, {'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'EIF2B4', 'score': 14.21}, {'connected_gene': 'ATRAID', 'score': 12.01}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'TMEM214', 'score': 11.88}, {'connected_gene': 'KHK', 'score': 11.77}, {'connected_gene': 'GPN1', 'score': 10.93}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'DPYSL5', 'score': 10.22}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'OST4', 'score': 10.06}, {'connected_gene': 'MAPRE3', 'score': 9.31}, {'connected_gene': 'PREB', 'score': 9.16}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.21}]
chr2	GH02I026740	26740933	26741082	0.54	[{'connected_gene': 'CENPA', 'score': 18.12}, {'connected_gene': 'SLC35F6', 'score': 0.34}, {'connected_gene': 'GC02P026705', 'score': 0.28}]
chr2	GH02I026713	26713893	26716309	0.46	[{'connected_gene': 'CENPA', 'score': 7.52}, {'connected_gene': 'KHK', 'score': 4.9}, {'connected_gene': 'GC02P026705', 'score': 0.44}, {'connected_gene': 'KCNK3', 'score': 0.34}, {'connected_gene': 'SLC35F6', 'score': 0.25}]
chr2	GH02I026902	26902986	26906698	0.38	[{'connected_gene': 'PIR42524', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 22.11}, {'connected_gene': 'DPYSL5', 'score': 11.49}, {'connected_gene': 'MAPRE3', 'score': 10.7}, {'connected_gene': 'TRIM54', 'score': 9.39}, {'connected_gene': 'UCN', 'score': 9.39}, {'connected_gene': 'MPV17', 'score': 9.39}, {'connected_gene': 'CENPA', 'score': 8.27}]