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
ENST00000447619	[[27293339, 27293610], [27294193, 27294331], [27294468, 27294517]]	[[27294216, 27294330]]
ENST00000456793	[[27293339, 27293589], [27294193, 27294331], [27294468, 27294641]]	[[27294216, 27294330]]
ENST00000429985	[[27293354, 27293589], [27294193, 27294517]]	[[27294216, 27294330]]
NM_001134693	[[27293339, 27293589], [27294193, 27294331], [27294468, 27294567]]	[[27294216, 27294330]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I027662	27662437	27664854	2.14	[{'connected_gene': 'SUPT7L', 'score': 626.29}, {'connected_gene': 'SLC4A1AP', 'score': 562.73}, {'connected_gene': 'IFT172', 'score': 86.94}, {'connected_gene': 'GTF3C2', 'score': 83.29}, {'connected_gene': 'CAD', 'score': 69.97}, {'connected_gene': 'ZNF512', 'score': 64.61}, {'connected_gene': 'GPN1', 'score': 57.67}, {'connected_gene': 'NRBP1', 'score': 51.44}, {'connected_gene': 'EIF2B4', 'score': 50.65}, {'connected_gene': 'SNX17', 'score': 43.13}, {'connected_gene': 'LOC105374363', 'score': 41.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 33.54}, {'connected_gene': 'ENSG00000272148', 'score': 33.32}, {'connected_gene': 'TMEM214', 'score': 31.87}, {'connected_gene': 'CCDC121', 'score': 21.4}, {'connected_gene': 'ZNF513', 'score': 20.79}, {'connected_gene': 'ATRAID', 'score': 20.76}, {'connected_gene': 'AGBL5-IT1', 'score': 20.67}, {'connected_gene': 'PPM1G', 'score': 20.5}, {'connected_gene': 'OST4', 'score': 12.66}, {'connected_gene': 'ENSG00000206731', 'score': 11.53}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'FOSL2', 'score': 10.65}, {'connected_gene': 'MPV17', 'score': 10.34}, {'connected_gene': 'FLJ31356', 'score': 10.22}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027636	27636637	27639813	0.69	[{'connected_gene': 'SNX17', 'score': 16.94}, {'connected_gene': 'SLC4A1AP', 'score': 11.64}, {'connected_gene': 'KRTCAP3', 'score': 6.8}, {'connected_gene': 'CGREF1', 'score': 4.78}, {'connected_gene': 'OST4', 'score': 4.37}, {'connected_gene': 'ENSG00000206731', 'score': 0.77}, {'connected_gene': 'GC02M027644', 'score': 0.77}, {'connected_gene': 'CCDC121', 'score': 0.44}, {'connected_gene': 'GPN1', 'score': 0.44}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027703	27703314	27707399	1.39	[{'connected_gene': 'CCDC121', 'score': 10.04}, {'connected_gene': 'GPN1', 'score': 10.04}, {'connected_gene': 'FNDC4', 'score': 6.45}, {'connected_gene': 'OST4', 'score': 4.24}, {'connected_gene': 'LINC01460', 'score': 0.39}, {'connected_gene': 'LOC105374378', 'score': 0.39}, {'connected_gene': 'SUPT7L', 'score': 0.26}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
chr2	GH02I027707	27707439	27711429	0.69	[{'connected_gene': 'FNDC4', 'score': 7.0}, {'connected_gene': 'OST4', 'score': 4.24}, {'connected_gene': 'LINC01460', 'score': 0.44}, {'connected_gene': 'LOC105374378', 'score': 0.44}, {'connected_gene': 'SUPT7L', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
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	GH02I027684	27684445	27687171	0.63	[{'connected_gene': 'SLC4A1AP', 'score': 21.16}, {'connected_gene': 'SUPT7L', 'score': 12.0}, {'connected_gene': 'LINC01460', 'score': 11.39}, {'connected_gene': 'CCDC121', 'score': 10.51}, {'connected_gene': 'GPN1', 'score': 10.51}, {'connected_gene': 'ZNF512', 'score': 10.25}, {'connected_gene': 'C2orf16', 'score': 9.65}, {'connected_gene': 'KRTCAP3', 'score': 7.13}, {'connected_gene': 'OST4', 'score': 4.2}, {'connected_gene': 'LOC105374378', 'score': 0.29}, {'connected_gene': 'GC02M027478', 'score': 0.04}]
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	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	GH02I027714	27714523	27717823	1.79	[{'connected_gene': 'LINC01460', 'score': 550.77}, {'connected_gene': 'LOC105374378', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 12.22}, {'connected_gene': 'FNDC4', 'score': 8.47}, {'connected_gene': 'KRTCAP3', 'score': 6.99}, {'connected_gene': 'OST4', 'score': 5.32}, {'connected_gene': 'TRIM54', 'score': 3.73}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2	GH02I027062	27062341	27064322	0.89	[{'connected_gene': 'ENSG00000272148', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 43.94}, {'connected_gene': 'ATRAID', 'score': 10.34}, {'connected_gene': 'SLC5A6', 'score': 10.34}, {'connected_gene': 'LOC100129724', 'score': 10.1}, {'connected_gene': 'MAPRE3', 'score': 10.06}, {'connected_gene': 'LOC105374337', 'score': 10.04}, {'connected_gene': 'TRIM54', 'score': 9.69}, {'connected_gene': 'UCN', 'score': 9.68}, {'connected_gene': 'MPV17', 'score': 9.68}, {'connected_gene': 'ZNF512', 'score': 4.03}, {'connected_gene': 'OST4', 'score': 0.44}, {'connected_gene': 'AGBL5', 'score': 0.34}]