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
ENST00000273158	[[39424838, 39425284], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111], [39433343, 39433512], [39435900, 39436067], [39437888, 39438842]]	[[39425215, 39425284], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111], [39433343, 39433512], [39435900, 39436067], [39437888, 39438011]]
ENST00000431510	[[39424879, 39425284], [39430852, 39430880], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111]]	[[39425255, 39425284], [39430852, 39430880], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111]]
NM_017875	[[39424814, 39425284], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111], [39433343, 39433512], [39435900, 39436067], [39437888, 39438819]]	[[39425215, 39425284], [39430985, 39431107], [39431913, 39431998], [39432931, 39433111], [39433343, 39433512], [39435900, 39436067], [39437888, 39438011]]

Promoter

Chrom	Start	End	Description
chr3	39424828	39424918	CAGE_peak_1_at_SLC25A38_5end
chr3	39425119	39425146	CAGE_peak_2_at_SLC25A38_5end
chr3	39425161	39425167	CAGE_peak_5_at_SLC25A38_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I039266	39266578	39270003	1.36	[{'connected_gene': 'GORASP1', 'score': 16.48}, {'connected_gene': 'CSRNP1', 'score': 15.3}, {'connected_gene': 'XIRP1', 'score': 11.68}, {'connected_gene': 'CCR8', 'score': 10.81}, {'connected_gene': 'HNRNPA1P21', 'score': 10.8}, {'connected_gene': 'TTC21A', 'score': 10.7}, {'connected_gene': 'RPSA', 'score': 8.73}, {'connected_gene': 'WDR48', 'score': 2.46}, {'connected_gene': 'SLC25A38', 'score': 1.96}, {'connected_gene': 'CX3CR1', 'score': 1.54}, {'connected_gene': 'LOC102724104', 'score': 0.28}]
chr3	GH03I039358	39358368	39358694	0.71	[{'connected_gene': 'EEF1A1P24', 'score': 550.77}, {'connected_gene': 'CCR8', 'score': 14.23}, {'connected_gene': 'HNRNPA1P21', 'score': 12.24}, {'connected_gene': 'CX3CR1', 'score': 10.12}, {'connected_gene': 'SLC25A38', 'score': 1.64}, {'connected_gene': 'ENSG00000238267', 'score': 0.37}, {'connected_gene': 'LOC105377644', 'score': 0.34}]
chr3	GH03I039382	39382454	39385110	2.26	[{'connected_gene': 'SLC25A38', 'score': 550.77}, {'connected_gene': 'LOC105377644', 'score': 550.77}, {'connected_gene': 'RPSA', 'score': 41.98}, {'connected_gene': 'GORASP1', 'score': 30.94}, {'connected_gene': 'SNORA62', 'score': 11.07}, {'connected_gene': 'XIRP1', 'score': 4.77}, {'connected_gene': 'GC03M039393', 'score': 0.34}]
chr3	GH03I039413	39413830	39414906	0.72	[{'connected_gene': 'RPSA', 'score': 33.28}, {'connected_gene': 'GORASP1', 'score': 21.72}, {'connected_gene': 'SNORA62', 'score': 17.74}, {'connected_gene': 'SLC25A38', 'score': 10.18}, {'connected_gene': 'GC03P039422', 'score': 0.77}, {'connected_gene': 'LOC105377038', 'score': 0.26}]
chr3	GH03I039387	39387490	39390011	1.01	[{'connected_gene': 'RPSA', 'score': 40.68}, {'connected_gene': 'SLC25A38', 'score': 0.44}, {'connected_gene': 'GC03M039393', 'score': 0.37}]
chr3	GH03I039385	39385490	39385659	0.68	[{'connected_gene': 'RPSA', 'score': 6.52}, {'connected_gene': 'SLC25A38', 'score': 0.77}, {'connected_gene': 'GC03M039393', 'score': 0.34}]
chr3	GH03I039361	39361201	39362812	1.36	[{'connected_gene': 'RPSA', 'score': 23.09}, {'connected_gene': 'HNRNPA1P21', 'score': 19.54}, {'connected_gene': 'CCR8', 'score': 15.48}, {'connected_gene': 'SNORA6', 'score': 10.65}, {'connected_gene': 'CX3CR1', 'score': 10.41}, {'connected_gene': 'XIRP1', 'score': 4.76}, {'connected_gene': 'SLC25A38', 'score': 3.42}, {'connected_gene': 'WDR48', 'score': 1.34}, {'connected_gene': 'EEF1A1P24', 'score': 0.77}, {'connected_gene': 'GC03P039372', 'score': 0.44}, {'connected_gene': 'LOC105377644', 'score': 0.34}]
chr3	GH03I039334	39334229	39334442	0.23	[{'connected_gene': 'HNRNPA1P21', 'score': 550.77}, {'connected_gene': 'GC03P039335', 'score': 550.77}, {'connected_gene': 'CCR8', 'score': 4.83}, {'connected_gene': 'RPSA', 'score': 3.84}, {'connected_gene': 'SLC25A38', 'score': 2.57}, {'connected_gene': 'WDR48', 'score': 1.37}]
chr3	GH03I039326	39326909	39328548	0.92	[{'connected_gene': 'CCR8', 'score': 556.81}, {'connected_gene': 'RPSA', 'score': 10.42}, {'connected_gene': 'HNRNPA1P21', 'score': 5.66}, {'connected_gene': 'CSRNP1', 'score': 4.49}, {'connected_gene': 'SLC25A38', 'score': 3.57}, {'connected_gene': 'WDR48', 'score': 1.96}, {'connected_gene': 'ADAD1P1', 'score': 0.26}]