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
ENST00000338970	[[40498782, 40498854], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503861]]	[[40498851, 40498854], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503723]]
ENST00000396203	[[40498830, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503859]]	[[40498962, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503723]]
ENST00000416518	[[40498844, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503431, 40503771]]	[[40498962, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503431, 40503452]]
ENST00000435633	[[40498853, 40499238], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503659]]	[[40498962, 40499121]]
ENST00000479563	[[40499367, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503859]]	None
ENST00000481798	[[40499422, 40499482], [40500132, 40500227], [40502897, 40503152], [40503429, 40503623]]	None
ENST00000461368	[[40500121, 40500227], [40502897, 40502961]]	None
ENST00000465325	[[40498793, 40498854], [40499380, 40500107]]	None
ENST00000465280	[[40499381, 40499482], [40500132, 40500647]]	None
NM_003973	[[40498782, 40498854], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503863]]	[[40498851, 40498854], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503723]]
NM_001034996	[[40498829, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503863]]	[[40498962, 40498965], [40499380, 40499482], [40500132, 40500227], [40502897, 40502997], [40503098, 40503152], [40503429, 40503723]]

Promoter

Chrom	Start	End	Description
chr3	40498817	40498838	CAGE_peak_1_at_RPL14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I040456	40456256	40459346	2.22	[{'connected_gene': 'RPL14', 'score': 555.82}, {'connected_gene': 'ENTPD3-AS1', 'score': 32.37}, {'connected_gene': 'ZNF619', 'score': 10.96}, {'connected_gene': 'ENTPD3', 'score': 4.54}, {'connected_gene': 'PIR56082', 'score': 0.44}]
chr3	GH03I040690	40690594	40691566	0.77	[{'connected_gene': 'RPL14', 'score': 6.44}, {'connected_gene': 'GC03M040699', 'score': 0.44}, {'connected_gene': 'ENSG00000226302', 'score': 0.17}]
chr3	GH03I040630	40630713	40632315	0.54	[{'connected_gene': 'RPL14', 'score': 5.02}, {'connected_gene': 'ENSG00000226302', 'score': 0.31}, {'connected_gene': 'GC03M040699', 'score': 0.2}]
chr3	GH03I039638	39638304	39640776	1.38	[{'connected_gene': 'ZNF619', 'score': 10.89}, {'connected_gene': 'RPL14', 'score': 10.38}, {'connected_gene': 'CSRNP1', 'score': 6.02}, {'connected_gene': 'NFU1P1', 'score': 0.77}, {'connected_gene': 'MOBP', 'score': 0.09}]
chr3	GH03I040476	40476401	40477959	1.95	[{'connected_gene': 'ZNF619', 'score': 561.36}, {'connected_gene': 'ENTPD3-AS1', 'score': 26.64}, {'connected_gene': 'RPL14', 'score': 5.06}, {'connected_gene': 'GC03M040498', 'score': 0.34}, {'connected_gene': 'RNU5B-2P', 'score': 0.34}]
chr3	GH03I040417	40417650	40418467	0.82	[{'connected_gene': 'ENTPD3-AS1', 'score': 37.92}, {'connected_gene': 'RPL14', 'score': 10.85}, {'connected_gene': 'GC03P040390', 'score': 0.31}, {'connected_gene': 'ENTPD3', 'score': 0.29}]
chr3	GH03I040313	40313630	40314943	1.03	[{'connected_gene': 'ENTPD3-AS1', 'score': 14.91}, {'connected_gene': 'RPL14', 'score': 13.44}, {'connected_gene': 'ZNF619', 'score': 10.96}, {'connected_gene': 'ENSG00000234287', 'score': 10.47}, {'connected_gene': 'EIF1B-AS1', 'score': 0.77}, {'connected_gene': 'PGAM1P3', 'score': 0.44}]
chr3	GH03I040430	40430090	40430239	0.31	[{'connected_gene': 'ENTPD3-AS1', 'score': 31.87}, {'connected_gene': 'RPL14', 'score': 12.27}, {'connected_gene': 'RNU5B-2P', 'score': 10.97}, {'connected_gene': 'GC03P040390', 'score': 0.26}]
chr3	GH03I040452	40452047	40454304	1.75	[{'connected_gene': 'ENTPD3-AS1', 'score': 579.72}, {'connected_gene': 'RNU5B-2P', 'score': 10.65}, {'connected_gene': 'RPL14', 'score': 5.77}, {'connected_gene': 'MOBP', 'score': 4.81}, {'connected_gene': 'GC03P040390', 'score': 0.21}]
chr3	GH03I040503	40503938	40507001	2.01	[{'connected_gene': 'ZNF620', 'score': 550.77}, {'connected_gene': 'ZNF619', 'score': 10.88}, {'connected_gene': 'RPL14', 'score': 10.65}, {'connected_gene': 'ENTPD3-AS1', 'score': 10.64}, {'connected_gene': 'ZNF621', 'score': 0.37}]
chr3	GH03I041198	41198503	41203721	2.12	[{'connected_gene': 'CTNNB1', 'score': 567.47}, {'connected_gene': 'ZNF619', 'score': 20.59}, {'connected_gene': 'RPL14', 'score': 11.58}, {'connected_gene': 'ENSG00000234287', 'score': 11.17}, {'connected_gene': 'PIR45194', 'score': 0.26}]
chr3	GH03I040308	40308673	40311601	2.07	[{'connected_gene': 'EIF1B', 'score': 550.77}, {'connected_gene': 'EIF1B-AS1', 'score': 550.77}, {'connected_gene': 'SNORA62', 'score': 22.35}, {'connected_gene': 'ENTPD3-AS1', 'score': 18.66}, {'connected_gene': 'ZNF619', 'score': 10.69}, {'connected_gene': 'RPL14', 'score': 4.63}, {'connected_gene': 'PGAM1P3', 'score': 0.39}]
chr3	GH03I040464	40464273	40465219	0.67	[{'connected_gene': 'PIR56082', 'score': 550.77}, {'connected_gene': 'ENTPD3-AS1', 'score': 27.11}, {'connected_gene': 'RPL14', 'score': 13.28}, {'connected_gene': 'ZNF619', 'score': 11.26}, {'connected_gene': 'RNU5B-2P', 'score': 11.11}, {'connected_gene': 'ZNF620', 'score': 10.69}, {'connected_gene': 'ENSG00000234287', 'score': 10.48}]