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
ENST00000483485	[[17922240, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17931664, 17931971], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17941782, 17942638]]	None
ENST00000377759	[[17922240, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949363]]	[[17923000, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949068]]
ENST00000490175	[[17922240, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949342, 17949443]]	None
ENST00000377768	[[17922240, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949100], [17949342, 17949623]]	[[17923000, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949068]]
ENST00000484809	[[17922243, 17923051], [17923753, 17924266]]	None
ENST00000606570	[[17922243, 17926174]]	None
ENST00000491090	[[17922477, 17923051], [17923753, 17923839], [17924765, 17924788], [17928129, 17928265]]	None
ENST00000476648	[[17922781, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17934639, 17934668]]	None
ENST00000463050	[[17927850, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932181]]	None
ENST00000431277	[[17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17937576, 17937681], [17949017, 17949101]]	[[17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17937576, 17937681], [17949017, 17949068]]
ENST00000419004	[[17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17949017, 17949154]]	[[17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17949017, 17949068]]
ENST00000494401	[[17930965, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934875], [17936008, 17936119], [17937576, 17937590]]	None
ENST00000474883	[[17932169, 17932239], [17933230, 17933354], [17934639, 17934867], [17936008, 17936119], [17937576, 17937681], [17949342, 17949399]]	None
ENST00000475716	[[17934639, 17934867], [17936008, 17936119], [17937576, 17937681], [17941782, 17941969], [17942751, 17942835]]	None
ENST00000469704	[[17934773, 17934867], [17936008, 17936119], [17937576, 17937681], [17949017, 17949403]]	None
ENST00000606557	[[17948330, 17949417]]	[[17948687, 17949068]]
ENST00000606602	[[17948330, 17948804], [17949017, 17949428]]	[[17948687, 17948804], [17949017, 17949068]]
ENST00000481323	[[17948561, 17948932], [17949017, 17949096], [17949342, 17949454]]	[[17948887, 17948932], [17949017, 17949068]]
ENST00000486039	[[17948750, 17948932], [17949017, 17949437]]	[[17948887, 17948932], [17949017, 17949068]]
NM_014426	[[17922239, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949437]]	[[17923000, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949068]]
NM_152227	[[17922239, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949100], [17949342, 17949634]]	[[17923000, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949017, 17949068]]
NM_001282454	[[17922239, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934761], [17936008, 17936119], [17937576, 17937681], [17949342, 17949634]]	[[17923000, 17923051], [17923753, 17923839], [17928129, 17928289], [17929533, 17929620], [17929707, 17929747], [17930775, 17930851], [17930934, 17931040], [17932143, 17932239], [17933230, 17933354], [17934639, 17934713]]

Promoter

Chrom	Start	End	Description
chr20	17926259	17926264	CAGE_peak_9_at_SNX5_5end
chr20	17949081	17949092	CAGE_peak_4_at_SNX5_5end
chr20	17949100	17949135	CAGE_peak_3_at_SNX5_5end
chr20	17949143	17949183	CAGE_peak_2_at_SNX5_5end
chr20	17949202	17949213	CAGE_peak_5_at_SNX5_5end
chr20	17949425	17949444	CAGE_peak_1_at_SNX5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I017984	17984607	17987208	0.94	[{'connected_gene': 'MGME1', 'score': 32.46}, {'connected_gene': 'SNORD17', 'score': 6.15}, {'connected_gene': 'SNX5', 'score': 5.34}, {'connected_gene': 'PIR51456', 'score': 0.44}, {'connected_gene': 'OVOL2', 'score': 0.19}]
chr20	GH20I017954	17954815	17974589	2.61	[{'connected_gene': 'MGME1', 'score': 585.95}, {'connected_gene': 'SNORD17', 'score': 573.21}, {'connected_gene': 'SNX5', 'score': 556.44}, {'connected_gene': 'PIR32960', 'score': 550.77}, {'connected_gene': 'GC20M017966', 'score': 550.77}, {'connected_gene': 'GC20M017968', 'score': 550.77}, {'connected_gene': 'LOC100286962', 'score': 20.25}, {'connected_gene': 'RRBP1', 'score': 10.12}, {'connected_gene': 'OVOL2', 'score': 0.16}]
chr20	GH20I017996	17996001	17996600	1.03	[{'connected_gene': 'MGME1', 'score': 22.51}, {'connected_gene': 'SNX5', 'score': 17.75}, {'connected_gene': 'SNORD17', 'score': 11.93}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'OVOL2', 'score': 10.38}, {'connected_gene': 'ENSG00000229262', 'score': 10.38}, {'connected_gene': 'PIR51456', 'score': 0.77}, {'connected_gene': 'PTMAP3', 'score': 0.37}]
chr20	GH20I018003	18003500	18006410	0.87	[{'connected_gene': 'MGME1', 'score': 27.41}, {'connected_gene': 'SNX5', 'score': 16.62}, {'connected_gene': 'RRBP1', 'score': 10.61}, {'connected_gene': 'PTMAP3', 'score': 0.44}, {'connected_gene': 'PIR51456', 'score': 0.39}, {'connected_gene': 'OVOL2', 'score': 0.23}]
chr20	GH20I018000	18000936	18002226	0.82	[{'connected_gene': 'MGME1', 'score': 20.84}, {'connected_gene': 'SNX5', 'score': 11.77}, {'connected_gene': 'RRBP1', 'score': 10.61}, {'connected_gene': 'PIR51456', 'score': 0.44}, {'connected_gene': 'PTMAP3', 'score': 0.39}, {'connected_gene': 'OVOL2', 'score': 0.22}]
chr20	GH20I017858	17858468	17860694	1.79	[{'connected_gene': 'RRBP1', 'score': 12.52}, {'connected_gene': 'BANF2', 'score': 10.96}, {'connected_gene': 'SNX5', 'score': 1.48}, {'connected_gene': 'MGME1', 'score': 1.32}, {'connected_gene': 'GC20M017851', 'score': 0.44}, {'connected_gene': 'LOC105372548', 'score': 0.39}]
chr20	GH20I018055	18055732	18059726	2.08	[{'connected_gene': 'OVOL2', 'score': 558.71}, {'connected_gene': 'ENSG00000229262', 'score': 550.77}, {'connected_gene': 'SNX5', 'score': 11.04}, {'connected_gene': 'GC20P018011', 'score': 0.25}]
chr20	GH20I018053	18053637	18053786	0.76	[{'connected_gene': 'SNX5', 'score': 11.05}, {'connected_gene': 'OVOL2', 'score': 0.44}, {'connected_gene': 'GC20P018011', 'score': 0.26}]
chr20	GH20I018056	18055317	18055526	0.58	[{'connected_gene': 'SNX5', 'score': 11.04}, {'connected_gene': 'OVOL2', 'score': 0.77}, {'connected_gene': 'GC20P018011', 'score': 0.26}]
chr20	GH20I018143	18143806	18146261	0.75	[{'connected_gene': 'SNX5', 'score': 5.3}, {'connected_gene': 'KAT14', 'score': 0.44}, {'connected_gene': 'GC20P018220', 'score': 0.18}, {'connected_gene': 'LOC100529052', 'score': 0.18}]
chr20	GH20I017934	17934297	17934466	0.2	[{'connected_gene': 'SNX5', 'score': 5.58}, {'connected_gene': 'GC20M017942', 'score': 0.44}, {'connected_gene': 'GC20M017941', 'score': 0.44}, {'connected_gene': 'LOC105372549', 'score': 0.44}]
chr20	GH20I018223	18223415	18224159	0.2	[{'connected_gene': 'SNX5', 'score': 4.45}, {'connected_gene': 'GC20P018220', 'score': 0.77}, {'connected_gene': 'LOC100529052', 'score': 0.77}, {'connected_gene': 'RN7SL14P', 'score': 0.28}]
chr20	GH20I018185	18185881	18188085	0.31	[{'connected_gene': 'SEC23B', 'score': 4.82}, {'connected_gene': 'SNX5', 'score': 4.45}, {'connected_gene': 'GC20P018220', 'score': 0.29}, {'connected_gene': 'LOC100529052', 'score': 0.29}, {'connected_gene': 'KAT14', 'score': 0.25}]
chr20	GH20I018224	18224394	18225947	0.85	[{'connected_gene': 'SEC23B', 'score': 4.73}, {'connected_gene': 'SNX5', 'score': 4.59}, {'connected_gene': 'GC20P018220', 'score': 0.44}, {'connected_gene': 'LOC100529052', 'score': 0.44}, {'connected_gene': 'RN7SL14P', 'score': 0.29}]
chr20	GH20I017992	17992473	17993848	0.69	[{'connected_gene': 'PIR51456', 'score': 550.77}, {'connected_gene': 'MGME1', 'score': 48.87}, {'connected_gene': 'SNORD17', 'score': 17.72}, {'connected_gene': 'SNX5', 'score': 17.62}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'PTMAP3', 'score': 0.37}, {'connected_gene': 'OVOL2', 'score': 0.2}]
chr20	GH20I017991	17991866	17992228	0.59	[{'connected_gene': 'PIR51456', 'score': 550.77}, {'connected_gene': 'MGME1', 'score': 12.64}, {'connected_gene': 'SNX5', 'score': 12.64}, {'connected_gene': 'SNORD17', 'score': 11.95}, {'connected_gene': 'RRBP1', 'score': 11.06}, {'connected_gene': 'OVOL2', 'score': 0.2}]
chr20	GH20I017943	17943457	17943606	0.63	[{'connected_gene': 'GC20M017942', 'score': 550.77}, {'connected_gene': 'GC20M017941', 'score': 550.77}, {'connected_gene': 'PIR32960', 'score': 0.37}, {'connected_gene': 'GC20M017968', 'score': 0.37}, {'connected_gene': 'SNX5', 'score': 0.31}]