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
ENST00000344034	[[27604060, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632554]]	[[27604465, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632289]]
ENST00000472077	[[27604061, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607634], [27607841, 27610025], [27632169, 27632422]]	None
ENST00000350803	[[27604067, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632377], [27632430, 27632449]]	[[27604465, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632289]]
ENST00000484925	[[27609462, 27610025], [27632169, 27632442]]	None
NM_177983	[[27604065, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632550]]	[[27604465, 27604672], [27604992, 27605095], [27605342, 27605472], [27606232, 27606467], [27606818, 27606959], [27607539, 27607955], [27608613, 27608746], [27609060, 27609146], [27609955, 27610025], [27632169, 27632289]]

Promoter

Chrom	Start	End	Description
chr2	27607574	27607620	CAGE_peak_4_at_PPM1G_5end
chr2	27607641	27607663	CAGE_peak_2_at_PPM1G_5end
chr2	27632343	27632354	CAGE_peak_8_at_PPM1G_5end
chr2	27632357	27632383	CAGE_peak_3_at_PPM1G_5end
chr2	27632390	27632486	CAGE_peak_1_at_PPM1G_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I027719	27719490	27722005	1.66	[{'connected_gene': 'SUPT7L', 'score': 55.03}, {'connected_gene': 'CAD', 'score': 44.01}, {'connected_gene': 'ZNF512', 'score': 39.33}, {'connected_gene': 'EIF2B4', 'score': 35.14}, {'connected_gene': 'GPN1', 'score': 31.87}, {'connected_gene': 'GTF3C2', 'score': 25.12}, {'connected_gene': 'ZNF513', 'score': 24.26}, {'connected_gene': 'AGBL5', 'score': 23.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 22.82}, {'connected_gene': 'LOC105374363', 'score': 18.86}, {'connected_gene': 'ENSG00000272148', 'score': 14.04}, {'connected_gene': 'IFT172', 'score': 12.78}, {'connected_gene': 'PPM1G', 'score': 12.66}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'C2orf16', 'score': 11.21}, {'connected_gene': 'SNX17', 'score': 11.2}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'RBKS', 'score': 6.1}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'MRPL33', 'score': 0.23}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
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	GH02I027414	27414334	27414483	0.6	[{'connected_gene': 'SNX17', 'score': 35.31}, {'connected_gene': 'PPM1G', 'score': 0.77}, {'connected_gene': 'NRBP1', 'score': 0.39}]
chr2	GH02I027413	27413559	27413775	0.49	[{'connected_gene': 'SNX17', 'score': 42.47}, {'connected_gene': 'PPM1G', 'score': 0.77}, {'connected_gene': 'NRBP1', 'score': 0.39}]
chr2	GH02I028364	28364807	28368220	1.65	[{'connected_gene': 'SNX17', 'score': 23.79}, {'connected_gene': 'NRBP1', 'score': 22.92}, {'connected_gene': 'GPN1', 'score': 15.83}, {'connected_gene': 'FOSL2', 'score': 14.81}, {'connected_gene': 'EIF2B4', 'score': 14.33}, {'connected_gene': 'ZNF513', 'score': 12.8}, {'connected_gene': 'FLJ31356', 'score': 12.39}, {'connected_gene': 'PPM1G', 'score': 11.76}, {'connected_gene': 'WDR43', 'score': 10.34}, {'connected_gene': 'LOC105374382', 'score': 0.44}, {'connected_gene': 'LOC105374383', 'score': 0.39}]
chr2	GH02I027407	27407812	27410552	2.3	[{'connected_gene': 'PPM1G', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 52.85}, {'connected_gene': 'SUPT7L', 'score': 19.16}, {'connected_gene': 'ZNF512', 'score': 18.05}, {'connected_gene': 'GTF3C2', 'score': 17.2}, {'connected_gene': 'NRBP1', 'score': 16.74}, {'connected_gene': 'IFT172', 'score': 12.89}, {'connected_gene': 'TMEM214', 'score': 12.68}, {'connected_gene': 'CAD', 'score': 12.39}, {'connected_gene': 'LOC105374363', 'score': 12.33}, {'connected_gene': 'GPN1', 'score': 12.05}, {'connected_gene': 'EIF2B4', 'score': 9.92}, {'connected_gene': 'KRTCAP3', 'score': 9.77}, {'connected_gene': 'ATRAID', 'score': 9.77}, {'connected_gene': 'C2orf16', 'score': 5.9}, {'connected_gene': 'FTH1P3', 'score': 0.37}]
chr2	GH02I027378	27378650	27382031	2.04	[{'connected_gene': 'ZNF513', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 41.29}, {'connected_gene': 'ATRAID', 'score': 6.83}, {'connected_gene': 'PIR37988', 'score': 0.77}, {'connected_gene': 'GC02P027377', 'score': 0.77}, {'connected_gene': 'PPM1G', 'score': 0.31}]
chr2	GH02I027626	27626253	27630048	2.26	[{'connected_gene': 'GPN1', 'score': 572.56}, {'connected_gene': 'CCDC121', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 25.28}, {'connected_gene': 'CAD', 'score': 18.86}, {'connected_gene': 'GTF3C2', 'score': 17.42}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.62}, {'connected_gene': 'NRBP1', 'score': 14.46}, {'connected_gene': 'EIF2B4', 'score': 14.37}, {'connected_gene': 'ZNF513', 'score': 12.84}, {'connected_gene': 'PPM1G', 'score': 11.81}, {'connected_gene': 'LOC105374363', 'score': 11.25}, {'connected_gene': 'TMEM214', 'score': 9.7}, {'connected_gene': 'FNDC4', 'score': 6.11}, {'connected_gene': 'MAPRE3', 'score': 4.15}, {'connected_gene': 'ENSG00000259080', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
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	GH02I027009	27009784	27011612	1.41	[{'connected_gene': 'LOC105374337', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 30.11}, {'connected_gene': 'CAD', 'score': 18.9}, {'connected_gene': 'GTF3C2', 'score': 17.41}, {'connected_gene': 'GPN1', 'score': 15.83}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.61}, {'connected_gene': 'NRBP1', 'score': 14.42}, {'connected_gene': 'EIF2B4', 'score': 14.35}, {'connected_gene': 'ZNF513', 'score': 12.83}, {'connected_gene': 'PPM1G', 'score': 11.79}, {'connected_gene': 'SNX17', 'score': 11.73}, {'connected_gene': 'LOC105374363', 'score': 11.24}, {'connected_gene': 'TMEM214', 'score': 10.01}, {'connected_gene': 'LOC100129724', 'score': 0.77}, {'connected_gene': 'MAPRE3', 'score': 0.26}]
chr2	GH02I027582	27582038	27584678	2.05	[{'connected_gene': 'ENSG00000259080', 'score': 550.77}, {'connected_gene': 'ZNF512', 'score': 550.77}, {'connected_gene': 'CAD', 'score': 29.17}, {'connected_gene': 'GTF3C2', 'score': 28.19}, {'connected_gene': 'SNX17', 'score': 26.09}, {'connected_gene': 'GPN1', 'score': 25.69}, {'connected_gene': 'NRBP1', 'score': 22.77}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.63}, {'connected_gene': 'EIF2B4', 'score': 14.38}, {'connected_gene': 'ZNF513', 'score': 12.86}, {'connected_gene': 'PPM1G', 'score': 11.83}, {'connected_gene': 'LOC105374363', 'score': 11.26}, {'connected_gene': 'TMEM214', 'score': 9.7}, {'connected_gene': 'C2orf16', 'score': 0.25}, {'connected_gene': 'GC02M027478', 'score': 0.03}]
chr2	GH02I027390	27390845	27392385	0.56	[{'connected_gene': 'GC02M027393', 'score': 550.77}, {'connected_gene': 'GC02M027394', 'score': 550.77}, {'connected_gene': 'FTH1P3', 'score': 550.77}, {'connected_gene': 'SNX17', 'score': 30.66}, {'connected_gene': 'EIF2B4', 'score': 2.13}, {'connected_gene': 'ZNF513', 'score': 0.39}, {'connected_gene': 'PPM1G', 'score': 0.37}]