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
ENST00000302334	[[133118838, 133119416], [133166160, 133166243], [133167332, 133167489], [133169146, 133169308], [133185671, 133185803], [133191188, 133191409], [133193812, 133194037]]	[[133118927, 133119416], [133166160, 133166243], [133167332, 133167489], [133169146, 133169308], [133185671, 133185803], [133191188, 133191409], [133193812, 133193816]]
ENST00000511434	[[133167909, 133168104], [133169146, 133169308], [133185671, 133185803], [133191188, 133191359]]	None
ENST00000513441	[[133118917, 133119416], [133123696, 133123718]]	None
ENST00000511140	[[133119305, 133119416], [133131131, 133131394]]	None
ENST00000510039	[[133169266, 133169308], [133185677, 133185803], [133191188, 133191409], [133193812, 133194066]]	None
ENST00000503047	[[133191185, 133191409], [133193812, 133194050]]	None
NM_003571	[[133118838, 133119416], [133166160, 133166243], [133167332, 133167489], [133169146, 133169308], [133185671, 133185803], [133191188, 133191409], [133193812, 133194056]]	[[133118927, 133119416], [133166160, 133166243], [133167332, 133167489], [133169146, 133169308], [133185671, 133185803], [133191188, 133191409], [133193812, 133193816]]

Promoter

Chrom	Start	End	Description
chr3	133118890	133118925	CAGE_peak_1_at_BFSP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I133489	133488135	133488186	0.38	[{'connected_gene': 'BFSP2-AS1', 'score': 11.7}, {'connected_gene': 'BFSP2', 'score': 9.62}, {'connected_gene': 'LOC391578', 'score': 0.77}, {'connected_gene': 'GC03P133482', 'score': 0.44}]
chr3	GH03I133479	133479537	133480774	1.13	[{'connected_gene': 'BFSP2-AS1', 'score': 11.98}, {'connected_gene': 'ENSG00000250983', 'score': 11.82}, {'connected_gene': 'ENSG00000201827', 'score': 11.81}, {'connected_gene': 'CDV3', 'score': 11.53}, {'connected_gene': 'TFP1', 'score': 10.34}, {'connected_gene': 'TOPBP1', 'score': 10.34}, {'connected_gene': 'BFSP2', 'score': 9.7}, {'connected_gene': 'GC03P133482', 'score': 0.77}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}]
chr3	GH03I133041	133041194	133041966	0.69	[{'connected_gene': 'BFSP2', 'score': 10.6}, {'connected_gene': 'TMEM108', 'score': 0.77}, {'connected_gene': 'TMEM108-AS1', 'score': 0.08}]
chr3	GH03I133440	133440617	133441026	0.2	[{'connected_gene': 'BFSP2', 'score': 11.77}, {'connected_gene': 'CDV3', 'score': 11.38}, {'connected_gene': 'BFSP2-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000249820', 'score': 0.29}]
chr3	GH03I133437	133437378	133440347	0.74	[{'connected_gene': 'BFSP2', 'score': 11.79}, {'connected_gene': 'CDV3', 'score': 11.38}, {'connected_gene': 'TFP1', 'score': 10.29}, {'connected_gene': 'BFSP2-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000249820', 'score': 0.31}]
chr3	GH03I133441	133441304	133466097	1.39	[{'connected_gene': 'BFSP2', 'score': 19.61}, {'connected_gene': 'CDV3', 'score': 11.95}, {'connected_gene': 'TFP1', 'score': 10.69}, {'connected_gene': 'TOPBP1', 'score': 10.69}, {'connected_gene': 'RNU6-678P', 'score': 10.26}, {'connected_gene': 'BFSP2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000249820', 'score': 0.26}]
chr3	GH03I133466	133466279	133468755	0.96	[{'connected_gene': 'BFSP2', 'score': 19.87}, {'connected_gene': 'TOPBP1', 'score': 10.31}, {'connected_gene': 'RNU6-678P', 'score': 9.47}, {'connected_gene': 'TFP1', 'score': 4.21}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}, {'connected_gene': 'BFSP2-AS1', 'score': 0.39}]
chr3	GH03I133267	133267989	133269005	0.46	[{'connected_gene': 'BFSP2', 'score': 9.58}, {'connected_gene': 'TMEM108-AS1', 'score': 0.39}, {'connected_gene': 'GC03M133285', 'score': 0.29}, {'connected_gene': 'TMEM108', 'score': 0.07}]
chr3	GH03I132731	132731257	132731326	0.52	[{'connected_gene': 'BFSP2', 'score': 10.18}, {'connected_gene': 'TFP1', 'score': 9.7}, {'connected_gene': 'TOPBP1', 'score': 9.7}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.44}, {'connected_gene': 'NPHP3-AS1', 'score': 0.44}, {'connected_gene': 'NPHP3', 'score': 0.44}, {'connected_gene': 'LOC105374115', 'score': 0.19}]
chr3	GH03I133400	133400010	133400069	0.5	[{'connected_gene': 'BFSP2', 'score': 550.77}, {'connected_gene': 'ENSG00000249820', 'score': 0.44}]
chr3	GH03I133124	133124811	133124870	0.61	[{'connected_gene': 'TMEM108', 'score': 560.05}, {'connected_gene': 'ENSG00000249725', 'score': 10.05}, {'connected_gene': 'BFSP2', 'score': 9.62}, {'connected_gene': 'TMEM108-AS1', 'score': 0.12}]
chr3	GH03I133411	133411995	133414290	1.34	[{'connected_gene': 'TMEM108', 'score': 2.66}, {'connected_gene': 'SRPRB', 'score': 1.91}, {'connected_gene': 'ENSG00000249820', 'score': 0.77}, {'connected_gene': 'BFSP2', 'score': 0.39}, {'connected_gene': 'BFSP2-AS1', 'score': 0.26}]
chr3	GH03I133494	133494597	133494746	0.58	[{'connected_gene': 'CDV3', 'score': 11.62}, {'connected_gene': 'BFSP2-AS1', 'score': 10.9}, {'connected_gene': 'TOPBP1', 'score': 10.28}, {'connected_gene': 'BFSP2', 'score': 10.15}, {'connected_gene': 'TFP1', 'score': 9.81}, {'connected_gene': 'GC03P133492', 'score': 0.77}, {'connected_gene': 'ENSG00000272832', 'score': 0.25}]
chr3	GH03I132771	132771882	132773720	0.2	[{'connected_gene': 'NPHP3', 'score': 12.08}, {'connected_gene': 'BFSP2', 'score': 10.47}, {'connected_gene': 'TMEM108', 'score': 4.42}, {'connected_gene': 'LOC105374115', 'score': 0.29}, {'connected_gene': 'NPHP3-ACAD11', 'score': 0.23}, {'connected_gene': 'NPHP3-AS1', 'score': 0.23}]
chr3	GH03I133404	133404254	133405411	0.2	[{'connected_gene': 'NPHP3', 'score': 4.89}, {'connected_gene': 'BFSP2', 'score': 0.77}, {'connected_gene': 'ENSG00000249820', 'score': 0.44}]
chr3	GH03I133206	133206648	133207548	0.31	[{'connected_gene': 'TMEM108-AS1', 'score': 10.43}, {'connected_gene': 'BFSP2', 'score': 10.23}, {'connected_gene': 'TMEM108', 'score': 0.1}]
chr3	GH03I133284	133284179	133284670	0.31	[{'connected_gene': 'TMEM108-AS1', 'score': 11.79}, {'connected_gene': 'BFSP2', 'score': 10.09}, {'connected_gene': 'GC03M133285', 'score': 0.37}, {'connected_gene': 'TMEM108', 'score': 0.07}]
chr3	GH03I133591	133591108	133592000	0.79	[{'connected_gene': 'TFP1', 'score': 17.69}, {'connected_gene': 'TOPBP1', 'score': 11.22}, {'connected_gene': 'BFSP2-AS1', 'score': 10.9}, {'connected_gene': 'RNU6-678P', 'score': 10.45}, {'connected_gene': 'BFSP2', 'score': 9.91}, {'connected_gene': 'CDV3', 'score': 0.37}, {'connected_gene': 'GC03P133653', 'score': 0.21}]
chr3	GH03I133469	133469336	133469698	1.08	[{'connected_gene': 'TFP1', 'score': 10.31}, {'connected_gene': 'TOPBP1', 'score': 10.31}, {'connected_gene': 'BFSP2', 'score': 10.16}, {'connected_gene': 'RNU6-678P', 'score': 9.47}, {'connected_gene': 'GC03P133476', 'score': 0.44}, {'connected_gene': 'GC03P133475', 'score': 0.44}, {'connected_gene': 'BFSP2-AS1', 'score': 0.39}]
chr3	GH03I133523	133523897	133524046	0.46	[{'connected_gene': 'ENSG00000250983', 'score': 13.19}, {'connected_gene': 'ENSG00000201827', 'score': 13.16}, {'connected_gene': 'BFSP2-AS1', 'score': 11.36}, {'connected_gene': 'BFSP2', 'score': 9.75}, {'connected_gene': 'ENSG00000272832', 'score': 0.37}, {'connected_gene': 'GC03P133492', 'score': 0.29}]
chr3	GH03I133473	133473769	133479231	1.19	[{'connected_gene': 'GC03P133476', 'score': 550.77}, {'connected_gene': 'GC03P133475', 'score': 550.77}, {'connected_gene': 'BFSP2', 'score': 14.45}, {'connected_gene': 'BFSP2-AS1', 'score': 11.98}, {'connected_gene': 'ENSG00000250983', 'score': 11.82}, {'connected_gene': 'ENSG00000201827', 'score': 11.81}, {'connected_gene': 'CDV3', 'score': 11.52}, {'connected_gene': 'TFP1', 'score': 10.33}, {'connected_gene': 'TOPBP1', 'score': 10.33}, {'connected_gene': 'GC03P133482', 'score': 0.44}]
chr3	GH03I133424	133424710	133426377	0.59	[{'connected_gene': 'ENSG00000249820', 'score': 0.37}, {'connected_gene': 'BFSP2', 'score': 0.31}, {'connected_gene': 'BFSP2-AS1', 'score': 0.29}]
chr3	GH03I133426	133426800	133427001	0.38	[{'connected_gene': 'ENSG00000249820', 'score': 0.37}, {'connected_gene': 'BFSP2', 'score': 0.31}, {'connected_gene': 'BFSP2-AS1', 'score': 0.31}]
chr3	GH03I133423	133423476	133424200	0.85	[{'connected_gene': 'ENSG00000249820', 'score': 0.39}, {'connected_gene': 'BFSP2', 'score': 0.34}, {'connected_gene': 'BFSP2-AS1', 'score': 0.29}]
chr3	GH03I133428	133428697	133428826	0.85	[{'connected_gene': 'ENSG00000249820', 'score': 0.37}, {'connected_gene': 'BFSP2', 'score': 0.31}, {'connected_gene': 'BFSP2-AS1', 'score': 0.31}]
chr3	GH03I133488	133488665	133493560	1.18	[{'connected_gene': 'GC03P133492', 'score': 550.77}, {'connected_gene': 'LOC391578', 'score': 550.77}, {'connected_gene': 'CDV3', 'score': 12.38}, {'connected_gene': 'BFSP2-AS1', 'score': 11.7}, {'connected_gene': 'TOPBP1', 'score': 10.32}, {'connected_gene': 'TFP1', 'score': 10.25}, {'connected_gene': 'BFSP2', 'score': 10.15}, {'connected_gene': 'ENSG00000272832', 'score': 0.23}]
chr3	GH03I133408	133408614	133409610	0.51	[{'connected_gene': 'ENSG00000249820', 'score': 550.77}, {'connected_gene': 'NPHP3', 'score': 4.48}, {'connected_gene': 'SRPRB', 'score': 4.06}, {'connected_gene': 'BFSP2', 'score': 0.44}]